Variant report for huAF3C63
- Data source: huAF3C63: var-GS000037988-ASM.tsv.bz2
- This report: evidence.pgp-hms.org/genomes?23adb6f5f9dc83cd1a2a5c8546bca0fe9d462f26
- Person ID: huAF3C63
- public profile: my.pgp-hms.org/profile/huAF3C63
- Download: source data, dbSNP and nsSNP report (119 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | SERPINA1-E366K | High | Well-established | Well-established pathogenic Recessive, Carrier (Heterozygous) | 0.0117122 | This is also called the "Pi Z" or "Z" allele. When homozygous (acting in a recessive manner) this variant is the major cause of severe alpha-1-antitrypsin deficiency (95% of cases) which often leads to emphysema or chronic obstructive pulmonary disease (COPD) and liver disease in adults and children. Heterozygosity for this variant may also be associated with increased rate of lung or liver problems, especially when combined with another variant with reduced function (compound heterozygous). | 1 |
| 2 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
| 3 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 4 | DRD2-S311C | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.0168247 | Various studies report this variant in a dopamine receptor is associated with increased risk for schizophrenia. Assuming an average 1% chance of schizophrenia in the general population, combined data suggests carriers of this variant have a risk of 1.4% (0.4% increased risk above average). | 1 |
| 5 | CETP-A390P | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0388548 | This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl). | 1 |
| 6 | rs5186 | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
| 7 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
| 8 | AGBL1-R1028X | Low | Uncertain | Uncertain pathogenic Dominant, Heterozygous | Despite a relatively high allele frequency, Riazuddin et al. 2013 reported finding it causing high penetrance Fuchs endothelial corneal dystrophy in a three generation family. The authors claimed that the allele frequency in the general population (1 in 330 Europeans are carriers) was not inconsistent with their hypothesis, as it is "considerably below" the >4% incidence of this late onset disease. Although the variant is rarer than the disease, the authors' hypothesis implies the variant accounts for a very significant fraction of the disease (>5%), and would be easily confirmed with case/control studies. The combination of a lack of confirming evidence, and relatively high allele frequency,appears to contradict the hypothesis proposed by Riazuddin et al. | 1 | |
| 9 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Homozygous | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 10 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Homozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 11 | DYX1C1-E417X | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.20147 | One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. | 1 |
| 12 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
| 13 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 14 | HFE-H63D | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.109965 | There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles. | 1 |
| 15 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 16 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 17 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Homozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
| 18 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 19 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
| 20 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Heterozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 21 | MTR-D919G | Low | Uncertain | Uncertain protective Complex/Other, Heterozygous | 0.217234 | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. | 1 |
| 22 | IRS2-G1057D | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.232615 | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). | 1 |
| 23 | LPL-S474X | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.0844953 | This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. | 1 |
| 24 | TYR-R402Q | Low | Well-established | Well-established benign Complex/Other, Heterozygous | 0.204964 | This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene. | 1 |
| 25 | CEP290-D664G | Low | Likely | Likely benign Unknown, Heterozygous | 0.00878754 | Reported as a non-pathogenic polymorphism, appears to be more common in East Asians. | 1 |
| 26 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 27 | NEFL-S472Shift | Low | Likely | Likely benign Unknown, Homozygous | Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC. | 1 | |
| 28 | COL7A1-P1277L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0407139 | Polymorphism, presumed benign. | 1 |
| 29 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
| 30 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 31 | MAPT-R370W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155549 | Probably benign. | 1 |
| 32 | FMO3-V257M | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0570738 | This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism. | 1 |
| 33 | CD19-R514H | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0482432 | Presumed benign. | 1 |
| 34 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 35 | PHYH-P29S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155326 | Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis. | 1 |
| 36 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 37 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 38 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 39 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 40 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 31157811 / 33212919 = 93.81%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.1119257086999 | 5451 | 6138 | 955553-955753, 957584-957842, 970657-970668, 970674-970704, 976045-976260, 976553-976777, 976858-977016, 977052-977082, 977342-977343, 977351-977528, 977536-977542, 978619-978648, 978681-978837, 978920-978921, 978928-978940, 978949-979112, 979203-979222, 979240-979241, 979264, 979273-979403, 979489-979555, 979574-979637, 979714-979764, 979777, 979784-979802, 979816-979819, 980541-980554, 980571-980657, 980768-980824, 980849-980857, 980870-980903, 981113-981131, 981133, 981137-981143, 981159-981161, 981164-981172, 981175-981178, 981182, 981186-981218, 981233-981256, 981344-981466, 981579-981645, 981777-981787, 981796, 981812-981836, 981845-981847, 981853-982040, 982046-982059, 982063-982064, 982083-982115, 982200-982337, 982707-982782, 982795-982812, 982968-983044, 983050-983067, 983156-983275, 983392-983745, 984247-984383, 984393-984422, 984432, 984436-984439, 984616-984831, 984946-985175, 985283-985417, 985613-985709, 985807-985829, 985837-985878, 985893-985948, 985955-985971, 986106-986155, 986187-986217, 986633-986749, 986833-986917, 986926-987006, 987108-987195, 989133-989159, 989183-989262, 989306-989352, 989828-989841, 989847-989853, 989865-989931, 990204-990265, 990272-990361 |
| 2 | GABRD | 1 | 0.56953642384106 | 585 | 1359 | 1950863-1950930, 1956431-1956444, 1956467, 1956481-1956482, 1956773-1956784, 1956957-1957004, 1957031-1957045, 1957091-1957112, 1957132, 1957136-1957152, 1957157-1957162, 1959016-1959038, 1959594-1959630, 1959653-1959656, 1959703-1959712, 1959729-1959731, 1960550-1960611, 1960642-1960648, 1960660-1960705, 1960990-1961032, 1961052-1961069, 1961083-1961105, 1961182-1961187, 1961448-1961501, 1961504, 1961556-1961562, 1961593-1961599, 1961610, 1961638-1961663, 1961702 |
| 3 | PEX10 | 1 | 0.85015290519878 | 147 | 981 | 2337923-2337941, 2338167, 2338253-2338266, 2340200, 2343830-2343941 |
| 4 | NPHP4 | 1 | 0.93342676944639 | 285 | 4281 | 5935060-5935067, 5935118-5935121, 5947495, 5947498-5947501, 6012838, 6029206, 6038330-6038473, 6046215-6046284, 6046298-6046349 |
| 5 | ESPN | 1 | 0.68421052631579 | 810 | 2565 | 6485016-6485145, 6485161-6485309, 6488299-6488336, 6488377-6488392, 6488424-6488433, 6488461-6488479, 6500386-6500397, 6500418, 6500425-6500426, 6500431-6500437, 6500452-6500454, 6500457, 6500469-6500476, 6500485, 6500696-6500729, 6500737-6500799, 6500833, 6500839, 6500867, 6501022-6501065, 6501100, 6505726-6505738, 6505779, 6505795, 6505872-6505923, 6508730, 6508760-6508766, 6508804-6508857, 6508872, 6508885, 6508922-6508928, 6509016-6509062, 6509103, 6509139-6509145, 6511703-6511709, 6511907-6511933, 6512106-6512146 |
| 6 | PLEKHG5 | 1 | 0.89181561618062 | 345 | 3189 | 6527988, 6528050-6528062, 6528111, 6528169-6528181, 6528242-6528258, 6529179-6529212, 6530342-6530346, 6530577-6530609, 6530646-6530650, 6530826, 6530834-6530855, 6530884-6530894, 6530938-6530942, 6531058, 6531082-6531123, 6531127, 6531648, 6532629-6532642, 6533393, 6534090-6534092, 6534100, 6534511-6534512, 6534514-6534526, 6534534-6534573, 6534630-6534647, 6535183-6535198, 6535544-6535546, 6537634-6537636, 6537700, 6556565-6556573, 6556583-6556586, 6556601, 6556609, 6556613, 6556626-6556629, 6557380-6557383 |
| 7 | PEX14 | 1 | 0.94797178130511 | 59 | 1134 | 10535024-10535029, 10535037, 10684444-10684459, 10689705, 10689800-10689811, 10689975, 10690004-10690011, 10690028-10690029, 10690033-10690044 |
| 8 | TARDBP | 1 | 0.96305220883534 | 46 | 1245 | 11082261, 11082272-11082275, 11082322-11082362 |
| 9 | MASP2 | 1 | 0.77244056283358 | 469 | 2061 | 11094885, 11094902-11094903, 11097755-11097772, 11097848-11097849, 11097868, 11102932-11102998, 11103040, 11103066-11103079, 11103396-11103405, 11103433, 11103437, 11103443-11103446, 11103452-11103453, 11103492-11103505, 11103523-11103572, 11105465-11105515, 11105530-11105571, 11105596, 11106616-11106635, 11106657-11106673, 11106727-11106761, 11106784, 11106787-11106790, 11106958, 11106961, 11106964, 11106977-11106994, 11107064-11107086, 11107113-11107115, 11107119-11107176, 11107260-11107264 |
| 10 | MTHFR | 1 | 0.94266869609335 | 113 | 1971 | 11853988-11854001, 11854077-11854107, 11854476, 11854518-11854523, 11854535-11854537, 11854855-11854856, 11854867-11854874, 11855182-11855183, 11855224-11855239, 11855275-11855276, 11855344, 11861298, 11861310-11861320, 11863090-11863104 |
| 11 | PLOD1 | 1 | 0.93086080586081 | 151 | 2184 | 11994837-11994885, 12008033-12008042, 12008054, 12009921, 12010495-12010502, 12012724, 12012769-12012776, 12020721, 12023629-12023635, 12023674-12023693, 12024346, 12024722-12024737, 12026312-12026330, 12026366-12026369, 12030862-12030865, 12030868 |
| 12 | CLCNKA | 1 | 0.70639534883721 | 606 | 2064 | 16349176-16349182, 16351275, 16353036, 16353050-16353051, 16353235, 16353239-16353256, 16354363, 16355257-16355262, 16355292-16355316, 16355624-16355653, 16355700-16355750, 16355782-16355794, 16356243-16356255, 16356272-16356295, 16356471-16356504, 16356565-16356570, 16356956-16356973, 16356976-16356981, 16356989-16357046, 16357061, 16357090-16357137, 16358205-16358208, 16358241, 16358268-16358326, 16358334-16358338, 16358698-16358703, 16358721-16358786, 16358938-16358973, 16358994-16359001, 16359693-16359705, 16359713-16359723, 16360106-16360124, 16360140-16360153 |
| 13 | CLCNKB | 1 | 0.75387596899225 | 508 | 2064 | 16371037, 16371051-16371053, 16371067, 16372068, 16372078-16372097, 16372111, 16373030-16373034, 16373124, 16373157-16373158, 16374400-16374403, 16374406, 16374533, 16374887, 16375042, 16375063-16375064, 16375068-16375069, 16375073-16375074, 16375644-16375654, 16377012-16377023, 16377068-16377074, 16377370-16377392, 16377419-16377449, 16377458-16377484, 16377973, 16377985-16377988, 16377994, 16378205-16378236, 16378264-16378295, 16378693-16378861, 16378879-16378893, 16380193, 16380196, 16380200, 16380243, 16380252-16380253, 16380256-16380258, 16381930-16381931, 16382171-16382175, 16382189, 16382192-16382193, 16382231-16382253, 16382917-16382919, 16382969-16382973, 16382985, 16382988, 16383364-16383405 |
| 14 | ATP13A2 | 1 | 0.94778436353373 | 185 | 3543 | 17312716-17312717, 17312743, 17312809-17312815, 17313000-17313009, 17313340-17313366, 17313374, 17313564, 17313574-17313576, 17313586-17313629, 17313671-17313680, 17314818, 17314942, 17314945-17314956, 17314966, 17316397-17316404, 17316442, 17316781, 17322553, 17322556-17322578, 17322936-17322937, 17322990-17322991, 17323530-17323539, 17323552-17323555, 17326548, 17326556, 17326564-17326573 |
| 15 | ALDH4A1 | 1 | 0.98758865248227 | 21 | 1692 | 19209672-19209673, 19228996-19229014 |
| 16 | PINK1 | 1 | 0.98109965635739 | 33 | 1746 | 20960201-20960216, 20960261-20960263, 20960278-20960286, 20960322-20960323, 20960383-20960385 |
| 17 | HSPG2 | 1 | 0.91993017607772 | 1055 | 13176 | 22149809-22149855, 22149870-22149907, 22149917-22149923, 22149935, 22149941-22149968, 22150109-22150113, 22150125, 22150176-22150212, 22150636-22150652, 22150657, 22150692-22150697, 22150800-22150820, 22150825, 22150832, 22150865-22150869, 22151076-22151108, 22151197-22151198, 22151249, 22151253-22151255, 22151262-22151271, 22154387-22154392, 22154532-22154536, 22154542-22154546, 22154549, 22154562-22154597, 22154602, 22154617-22154629, 22154635-22154645, 22154748-22154777, 22154791-22154804, 22154817, 22154820, 22154831-22154847, 22154919, 22155328-22155359, 22155459-22155476, 22155500-22155572, 22155876, 22155924-22155929, 22155966-22156048, 22156056-22156070, 22156574-22156583, 22157524, 22157775-22157777, 22157790, 22157970-22157972, 22158253-22158254, 22159094-22159096, 22161172-22161176, 22163386, 22163389, 22163405-22163410, 22163415-22163418, 22163466, 22163490, 22165428-22165431, 22165442-22165444, 22165903-22165909, 22167684-22167685, 22168032-22168042, 22168075, 22168086, 22168106-22168130, 22168615-22168617, 22169351-22169362, 22169913-22169919, 22173859-22173892, 22173956-22173962, 22175193-22175196, 22175485-22175496, 22175503-22175512, 22176894-22176904, 22176945-22176951, 22178148-22178150, 22178153-22178156, 22178581-22178586, 22179521-22179524, 22181251-22181254, 22181392, 22181420-22181426, 22181800-22181803, 22183791-22183795, 22186094, 22186348-22186353, 22186407-22186409, 22186444-22186455, 22186473, 22186681-22186692, 22188486-22188493, 22190593-22190594, 22191351, 22191364-22191372, 22191442-22191456, 22191800-22191803, 22199141-22199145, 22199507-22199528, 22202521-22202526, 22211088-22211094, 22211101-22211102, 22263648-22263710 |
| 18 | WNT4 | 1 | 0.92613636363636 | 78 | 1056 | 22456124, 22469339-22469415 |
| 19 | HMGCL | 1 | 0.98670756646217 | 13 | 978 | 24134715-24134724, 24137254, 24137265-24137266 |
| 20 | FUCA1 | 1 | 0.90149892933619 | 138 | 1401 | 24186386, 24189726, 24194428-24194466, 24194477, 24194491, 24194528-24194552, 24194570-24194572, 24194615-24194652, 24194689, 24194718-24194735, 24194741-24194742, 24194755, 24194770-24194776 |
| 21 | LDLRAP1 | 1 | 0.98058252427184 | 18 | 927 | 25870233-25870250 |
| 22 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 23 | YARS | 1 | 0.99117832388154 | 14 | 1587 | 33256797-33256810 |
| 24 | KCNQ4 | 1 | 0.79454022988506 | 429 | 2088 | 41249766-41249915, 41249927-41249953, 41249977-41250041, 41250060-41250079, 41284177-41284205, 41284259-41284300, 41284321-41284333, 41285076-41285079, 41287994, 41296876-41296882, 41296971-41296976, 41298761-41298770, 41300709-41300723, 41303983-41304006, 41304127-41304142 |
| 25 | LEPRE1 | 1 | 0.99638172772501 | 8 | 2211 | 43212431, 43232401-43232406, 43232609 |
| 26 | POMGNT1 | 1 | 0.97781139687342 | 44 | 1983 | 46660585, 46663411-46663453 |
| 27 | PCSK9 | 1 | 0.94612794612795 | 112 | 2079 | 55505540, 55505553-55505555, 55521674-55521675, 55521692-55521708, 55521718-55521779, 55521825-55521850, 55524237 |
| 28 | COL11A1 | 1 | 0.99010445299615 | 54 | 5457 | 103364222-103364238, 103364259-103364279, 103364322-103364326, 103364530, 103364535-103364544 |
| 29 | VANGL1 | 1 | 0.99936507936508 | 1 | 1575 | 116228140 |
| 30 | NOTCH2 | 1 | 0.98274002157497 | 128 | 7416 | 120539665-120539714, 120539739-120539784, 120539913-120539919, 120539936, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120611960, 120611964, 120612003-120612004, 120612006 |
| 31 | PRPF3 | 1 | 0.9995126705653 | 1 | 2052 | 150305596 |
| 32 | FLG | 1 | 0.90686033152798 | 1135 | 12186 | 152276276, 152276441-152276447, 152276523-152276543, 152276556, 152276583, 152276616, 152276626, 152276696-152276729, 152276758-152276785, 152276845-152276892, 152277081-152277087, 152277158-152277182, 152277238-152277268, 152277393-152277399, 152277693-152277721, 152278044-152278052, 152278083-152278096, 152278385-152278406, 152278555, 152278665-152278692, 152278853-152278859, 152279016-152279022, 152279524-152279530, 152279685-152279733, 152279778-152279805, 152279841, 152280029-152280035, 152280151-152280157, 152280170, 152280347, 152280594-152280630, 152280736, 152280759, 152280782, 152280788, 152281007-152281008, 152281039, 152281621-152281649, 152281687-152281731, 152281745-152281751, 152281935-152281972, 152282013-152282033, 152282098-152282123, 152282267, 152282299, 152282574-152282580, 152282656, 152283001-152283007, 152283070-152283108, 152283190-152283196, 152283346, 152283467-152283473, 152283532-152283538, 152283801, 152283941-152283980, 152284061-152284090, 152284169-152284177, 152284200-152284222, 152284235-152284253, 152284421-152284427, 152284475-152284521, 152284626-152284632, 152284688-152284694, 152284854, 152284882-152284922, 152284961, 152285033-152285051, 152285096-152285140, 152285185-152285209, 152285512-152285534, 152285574-152285580, 152285640-152285657, 152285811-152285817, 152286002, 152286013-152286020, 152286178-152286185, 152287013-152287019, 152287795-152287805, 152287870, 152287874-152287876 |
| 33 | CHRNB2 | 1 | 0.99602385685885 | 6 | 1509 | 154544382-154544386, 154544390 |
| 34 | GBA | 1 | 0.99916457811195 | 1 | 1197 | 155184367 |
| 35 | SEMA4A | 1 | 0.99562554680665 | 10 | 2286 | 156131158-156131167 |
| 36 | NTRK1 | 1 | 0.99205353408616 | 19 | 2391 | 156830751-156830767, 156846260-156846261 |
| 37 | F5 | 1 | 0.99895131086142 | 7 | 6675 | 169510337-169510343 |
| 38 | DARS2 | 1 | 0.99638802889577 | 7 | 1938 | 173794453, 173794456-173794459, 173814389-173814390 |
| 39 | NPHS2 | 1 | 0.99826388888889 | 2 | 1152 | 179544866-179544867 |
| 40 | HMCN1 | 1 | 0.99994085639934 | 1 | 16908 | 185897752 |
| 41 | CFHR1 | 1 | 0.99899295065458 | 1 | 993 | 196797357 |
| 42 | ADCK3 | 1 | 0.99279835390947 | 14 | 1944 | 227153425-227153429, 227169788-227169796 |
| 43 | GJC2 | 1 | 0.50681818181818 | 651 | 1320 | 228345460-228345461, 228345491-228345495, 228345573-228345579, 228345638-228345640, 228345645-228345647, 228345651, 228345658-228345659, 228345779-228345816, 228345828, 228345839-228345842, 228345851-228345858, 228345873-228345874, 228345891, 228345896, 228345902, 228345952-228346008, 228346017-228346047, 228346053, 228346069-228346077, 228346083-228346095, 228346102-228346127, 228346134-228346152, 228346196-228346205, 228346235-228346285, 228346292-228346457, 228346466-228346502, 228346526-228346548, 228346579, 228346592-228346694, 228346723-228346747 |
| 44 | ACTA1 | 1 | 0.98941798941799 | 12 | 1134 | 229567591-229567595, 229567885, 229567927, 229567930-229567932, 229568793-229568794 |
| 45 | LYST | 1 | 0.99798351744696 | 23 | 11406 | 235875449-235875461, 235907427-235907429, 235944241-235944247 |
| 46 | RYR2 | 1 | 0.99946323134729 | 8 | 14904 | 237729970-237729977 |
| 47 | NET1 | 10 | 0.99944165270798 | 1 | 1791 | 5454749 |
| 48 | GATA3 | 10 | 0.99475655430712 | 7 | 1335 | 8100739-8100745 |
| 49 | CUBN | 10 | 0.99935614422369 | 7 | 10872 | 16967262-16967268 |
| 50 | PTF1A | 10 | 0.84701114488349 | 151 | 987 | 23481460, 23481633-23481672, 23481748-23481751, 23481758-23481774, 23481802-23481808, 23481862-23481883, 23481909-23481956, 23482013, 23482140-23482150 |
| 51 | MASTL | 10 | 0.99507015547971 | 13 | 2637 | 27444361, 27459109-27459113, 27462169-27462172, 27469978-27469980 |
| 52 | RET | 10 | 0.97668161434978 | 78 | 3345 | 43572707-43572772, 43600510-43600521 |
| 53 | CHAT | 10 | 0.99510458388963 | 11 | 2247 | 50822377-50822379, 50822409, 50822413-50822419 |
| 54 | EGR2 | 10 | 0.99510831586303 | 7 | 1431 | 64573019-64573021, 64573024-64573027 |
| 55 | KIAA1279 | 10 | 0.9930332261522 | 13 | 1866 | 70748713, 70748876-70748880, 70748957-70748962, 70760271 |
| 56 | NODAL | 10 | 0.9904214559387 | 10 | 1044 | 72201295-72201297, 72201300-72201301, 72201344, 72201394-72201397 |
| 57 | CDH23 | 10 | 0.9837907716786 | 163 | 10056 | 73405680-73405686, 73406320-73406326, 73406367-73406371, 73439160, 73439164, 73439207-73439208, 73442207-73442234, 73442309-73442316, 73453937-73453948, 73453981, 73455252-73455269, 73461788-73461789, 73462328, 73462332-73462335, 73462440-73462451, 73464684-73464689, 73464767-73464791, 73464875-73464887, 73466723, 73490234, 73494002, 73494008-73494014 |
| 58 | VCL | 10 | 0.99882525697504 | 4 | 3405 | 75873985-75873988 |
| 59 | LDB3 | 10 | 0.98855311355311 | 25 | 2184 | 88466421-88466442, 88476185-88476186, 88476334 |
| 60 | GLUD1 | 10 | 0.91413237924866 | 144 | 1677 | 88811627, 88854085-88854091, 88854241-88854246, 88854345-88854385, 88854405-88854412, 88854418-88854447, 88854453-88854456, 88854471-88854517 |
| 61 | ZFYVE27 | 10 | 0.99919093851133 | 1 | 1236 | 99517402 |
| 62 | HPS1 | 10 | 0.97815764482431 | 46 | 2106 | 100177368-100177385, 100177934-100177955, 100189552-100189556, 100189566 |
| 63 | FBXW4 | 10 | 0.99435028248588 | 7 | 1239 | 103371139-103371142, 103454285-103454287 |
| 64 | HPS6 | 10 | 0.86125429553265 | 323 | 2328 | 103825232-103825239, 103825281-103825343, 103825378-103825405, 103825431-103825520, 103825655, 103825667, 103825684-103825726, 103825772-103825817, 103826087, 103826710-103826713, 103826946-103826949, 103827015-103827025, 103827052-103827057, 103827288-103827297, 103827444-103827450 |
| 65 | CYP17A1 | 10 | 0.95612311722331 | 67 | 1527 | 104590605-104590607, 104591280-104591316, 104592346, 104592349-104592352, 104592436, 104593814-104593820, 104594600, 104594728-104594731, 104594761, 104595025-104595032 |
| 66 | COL17A1 | 10 | 0.99554962171785 | 20 | 4494 | 105816897-105816899, 105816903-105816919 |
| 67 | HTRA1 | 10 | 0.89466389466389 | 152 | 1443 | 124221169-124221176, 124221188, 124221194-124221232, 124221239-124221251, 124221257, 124221260-124221261, 124221264-124221273, 124221276-124221284, 124221332-124221393, 124221467, 124266224-124266229 |
| 68 | HRAS | 11 | 0.49824561403509 | 286 | 570 | 532636-532755, 533493-533519, 533572-533573, 533581, 533611, 533786-533859, 533869, 533876, 533882-533885, 533916-533918, 533929-533944, 534215-534225, 534229-534235, 534239-534243, 534278, 534297, 534307-534308, 534311-534315, 534319-534322 |
| 69 | TALDO1 | 11 | 0.71794871794872 | 286 | 1014 | 747482-747578, 755942-755960, 755986-755997, 763344-763431, 763510-763519, 763747-763753, 763774, 763874-763912, 764341-764351, 764827, 764840 |
| 70 | SLC25A22 | 11 | 0.35699588477366 | 625 | 972 | 791923, 791926-791930, 791933-791945, 791953, 791991-792068, 792142-792206, 792309, 792325-792407, 792415-792458, 792553-792569, 792583-792633, 792641-792642, 792646-792727, 792870-792920, 792949-792988, 793550, 793556, 793559, 793569-793572, 793588, 793591, 793599-793600, 793603-793611, 794482-794484, 794493-794513, 794776-794781, 794808-794809, 794814-794829, 794887-794901, 794992-794999 |
| 71 | PNPLA2 | 11 | 0.65082508250825 | 529 | 1515 | 819719-819905, 821641-821644, 821723-821755, 821775, 821779-821780, 821794-821795, 822005, 822483-822491, 823556-823586, 823732-823737, 823740, 823788-823789, 823799-823804, 823809, 823998-824004, 824007-824008, 824011-824012, 824023, 824034-824036, 824055-824071, 824076, 824101-824103, 824113-824130, 824314-824315, 824322-824330, 824334-824341, 824358-824379, 824389-824398, 824415, 824424-824436, 824526, 824531-824549, 824561, 824570, 824574-824583, 824652-824670, 824676-824681, 824716, 824723-824724, 824759-824769, 824788-824815, 824821-824843, 824854, 824860 |
| 72 | CTSD | 11 | 0.71025020177563 | 359 | 1239 | 1774752-1774780, 1774807-1774815, 1774854, 1775231-1775254, 1775319-1775330, 1775348-1775358, 1775365-1775368, 1778571-1778588, 1778621-1778663, 1778705-1778706, 1778766-1778769, 1780204-1780236, 1780267-1780292, 1780754, 1780758-1780759, 1780813-1780832, 1782539-1782546, 1782594, 1782639-1782676, 1782694-1782698, 1785022-1785089 |
| 73 | TNNI2 | 11 | 0.64845173041894 | 193 | 549 | 1861633-1861639, 1861645-1861671, 1861758-1861784, 1861812-1861863, 1861870-1861886, 1862054-1862073, 1862087-1862107, 1862361-1862382 |
| 74 | TNNT3 | 11 | 0.11969111969112 | 684 | 777 | 1944278, 1944282-1944287, 1944785-1944787, 1944790-1944796, 1946329-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953714-1953717, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955780, 1955789-1955843, 1955851-1955885, 1956059-1956149, 1958193-1958233, 1959668-1959722 |
| 75 | H19 | 11 | 0.9953314659197 | 5 | 1071 | 2017829, 2018134, 2018159, 2018167-2018168 |
| 76 | IGF2 | 11 | 0.12517580872011 | 622 | 711 | 2154217-2154453, 2154747-2154895, 2156597-2156614, 2156629-2156636, 2156664-2156699, 2156716-2156752, 2156758-2156759, 2161367-2161413, 2161417-2161418, 2161423-2161441, 2161447-2161505, 2161519-2161526 |
| 77 | TH | 11 | 0.093333333333333 | 1428 | 1575 | 2185463-2185580, 2185590-2185591, 2185603-2185622, 2186462-2186463, 2186473-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189378, 2189405-2189409, 2189721-2189815, 2189821-2189860, 2189870, 2189886-2189892, 2189895, 2190880-2190936, 2190948-2191101, 2191920-2192000, 2192927-2192928, 2192945, 2192948-2192951, 2192979-2193011 |
| 78 | KCNQ1 | 11 | 0.77449532250123 | 458 | 2031 | 2466329-2466714, 2591874-2591885, 2592555-2592563, 2592587-2592596, 2593262-2593266, 2594131-2594135, 2790116-2790146 |
| 79 | CDKN1C | 11 | 0.087276550998948 | 868 | 951 | 2905234-2905295, 2905319-2905331, 2905353-2905364, 2905900-2906590, 2906610-2906680, 2906701-2906719 |
| 80 | SMPD1 | 11 | 0.99103375527426 | 17 | 1896 | 6411931-6411947 |
| 81 | SBF2 | 11 | 0.99981981981982 | 1 | 5550 | 9829576 |
| 82 | ABCC8 | 11 | 0.99873577749684 | 6 | 4746 | 17417468-17417472, 17498304 |
| 83 | ANO5 | 11 | 0.99744711889132 | 7 | 2742 | 22277033-22277039 |
| 84 | WT1 | 11 | 0.94530244530245 | 85 | 1554 | 32456502, 32456591-32456594, 32456612-32456627, 32456639-32456656, 32456681, 32456714-32456749, 32456759-32456761, 32456811-32456816 |
| 85 | SLC35C1 | 11 | 0.97159090909091 | 30 | 1056 | 45827408-45827425, 45827597-45827608 |
| 86 | PEX16 | 11 | 0.78866474543708 | 220 | 1041 | 45931664-45931694, 45931717-45931728, 45935696-45935726, 45935952-45935994, 45937073-45937081, 45937353-45937387, 45939254-45939261, 45939267-45939273, 45939279-45939320, 45939325-45939326 |
| 87 | F2 | 11 | 0.99571963616907 | 8 | 1869 | 46747423, 46747629-46747635 |
| 88 | DDB2 | 11 | 0.99376947040498 | 8 | 1284 | 47259689-47259696 |
| 89 | MYBPC3 | 11 | 0.98065359477124 | 74 | 3825 | 47365162-47365164, 47367905-47367906, 47367918-47367921, 47369443-47369445, 47370038-47370053, 47370088-47370092, 47371468-47371473, 47371600-47371609, 47372124-47372138, 47372790, 47372919-47372920, 47372947, 47372984-47372987, 47373053, 47373056 |
| 90 | SLC39A13 | 11 | 0.9758064516129 | 27 | 1116 | 47431808-47431821, 47435001-47435002, 47435007-47435012, 47436616-47436617, 47436839-47436840, 47436876 |
| 91 | RAPSN | 11 | 0.86924939467312 | 162 | 1239 | 47459539-47459545, 47460283-47460313, 47460337-47460341, 47460388-47460394, 47460441-47460470, 47462762-47462763, 47463220, 47463282-47463285, 47463387-47463401, 47464242-47464266, 47469546-47469548, 47470353-47470384 |
| 92 | NDUFS3 | 11 | 0.9937106918239 | 5 | 795 | 47600860-47600864 |
| 93 | SERPING1 | 11 | 0.99268130405855 | 11 | 1503 | 57381923-57381933 |
| 94 | TMEM216 | 11 | 0.97348484848485 | 7 | 264 | 61165326-61165332 |
| 95 | BEST1 | 11 | 0.99146757679181 | 15 | 1758 | 61723190-61723204 |
| 96 | ROM1 | 11 | 0.96590909090909 | 36 | 1056 | 62380787-62380791, 62380816-62380846 |
| 97 | BSCL2 | 11 | 0.98776097912167 | 17 | 1389 | 62458779-62458793, 62469968, 62472929 |
| 98 | SLC22A12 | 11 | 0.59446450060168 | 674 | 1662 | 64359040-64359046, 64359066-64359113, 64359143-64359184, 64359203-64359216, 64359251, 64359286-64359288, 64359299, 64359311-64359314, 64359325-64359332, 64359338, 64359344-64359345, 64359363-64359374, 64359387-64359392, 64359404-64359410, 64359419, 64359423-64359424, 64360251-64360254, 64360269-64360316, 64360327-64360354, 64360883, 64360898-64360899, 64360910-64360913, 64360923-64360942, 64361007, 64361031, 64361107-64361126, 64361162-64361199, 64361220-64361228, 64366006, 64366299-64366368, 64367151-64367155, 64367165-64367168, 64367174, 64367179, 64367184-64367187, 64367192, 64367204-64367338, 64367839-64367924, 64368219-64368242, 64368317-64368323 |
| 99 | PYGM | 11 | 0.97706603400554 | 58 | 2529 | 64521024, 64521033-64521041, 64521083-64521086, 64521470-64521471, 64521807-64521813, 64522302-64522305, 64526080-64526086, 64527145-64527168 |
| 100 | MEN1 | 11 | 0.98593073593074 | 26 | 1848 | 64571968-64571977, 64572615-64572622, 64575028, 64577256, 64577572-64577577 |
| 101 | CST6 | 11 | 0.98444444444444 | 7 | 450 | 65779586, 65780330-65780335 |
| 102 | SPTBN2 | 11 | 0.9721176634602 | 200 | 7173 | 66461646, 66467998-66468006, 66468242, 66468251, 66468263, 66468308-66468311, 66468404, 66468450-66468458, 66468489-66468513, 66468579-66468581, 66468623, 66468741-66468753, 66469131-66469132, 66472246-66472252, 66472274, 66472278, 66472417, 66472627-66472634, 66473179-66473185, 66473228, 66473233-66473238, 66473249-66473250, 66473253, 66475128-66475133, 66475159-66475166, 66475179-66475220, 66475260, 66475669-66475675, 66475687-66475693, 66475707-66475710, 66478213, 66478220-66478221, 66481787-66481790, 66481793-66481794, 66481800, 66483307-66483308, 66483316, 66483320-66483324, 66483327 |
| 103 | PC | 11 | 0.93582131750071 | 227 | 3537 | 66616744-66616756, 66617089-66617111, 66617201-66617205, 66617261, 66617282, 66617430-66617431, 66617459, 66617707, 66617866, 66617893, 66618154, 66618248-66618254, 66618270-66618271, 66618550-66618577, 66618638-66618640, 66618743-66618750, 66620035-66620073, 66620102-66620104, 66620107-66620111, 66620122, 66620814-66620816, 66620819, 66631335, 66631348, 66633658-66633678, 66633699-66633702, 66633773, 66633785-66633807, 66638356-66638358, 66638638, 66638949, 66639200-66639213, 66639502-66639507, 66639548 |
| 104 | CABP4 | 11 | 0.86111111111111 | 115 | 828 | 67222948-67222990, 67223112-67223135, 67223212, 67223817, 67223910, 67225135-67225153, 67225911-67225934, 67225938-67225939 |
| 105 | AIP | 11 | 0.52870090634441 | 468 | 993 | 67254502, 67254560-67254578, 67254612, 67254616, 67256767, 67256770-67256772, 67256805-67256828, 67256864-67256873, 67256880, 67256883-67256884, 67256900, 67256914-67256926, 67257509-67257510, 67257524-67257578, 67257587-67257614, 67257626-67257643, 67257649-67257685, 67257787-67257797, 67257809-67257887, 67257895-67257928, 67258276-67258309, 67258328-67258378, 67258383-67258385, 67258391, 67258394-67258400, 67258404-67258411, 67258436-67258458 |
| 106 | NDUFV1 | 11 | 0.99784946236559 | 3 | 1395 | 67376045-67376047 |
| 107 | NDUFS8 | 11 | 0.78988941548183 | 133 | 633 | 67799619-67799630, 67799669-67799676, 67799771-67799803, 67800394, 67800441-67800475, 67800679-67800700, 67800716-67800722, 67803748-67803751, 67803947-67803953, 67804000, 67804058-67804060 |
| 108 | TCIRG1 | 11 | 0.89530685920578 | 261 | 2493 | 67809244-67809250, 67810110-67810122, 67810133, 67810167-67810203, 67810262-67810295, 67810430-67810454, 67810892-67810894, 67810912, 67811038-67811039, 67811312-67811357, 67811619, 67814979, 67814987, 67815266-67815271, 67816548, 67816757-67816758, 67817130-67817152, 67817184-67817229, 67817625, 67817670, 67817992-67817997, 67818082-67818084 |
| 109 | LRP5 | 11 | 0.9463696369637 | 260 | 4848 | 68080183-68080273, 68131267-68131272, 68131361-68131400, 68174250-68174258, 68201232-68201233, 68201249-68201253, 68204427-68204428, 68204449, 68207340-68207341, 68207351, 68207355-68207357, 68207360-68207363, 68207370-68207384, 68213944-68213963, 68216336, 68216339-68216362, 68216401-68216406, 68216453-68216461, 68216464-68216479, 68216519, 68216529-68216530 |
| 110 | CPT1A | 11 | 0.99483204134367 | 12 | 2322 | 68527726-68527733, 68540753-68540756 |
| 111 | IGHMBP2 | 11 | 0.98289738430584 | 51 | 2982 | 68671421-68671430, 68671467-68671478, 68682402, 68696700-68696701, 68696704, 68696710-68696718, 68704075-68704081, 68704348-68704352, 68704529-68704531, 68705709 |
| 112 | MYO7A | 11 | 0.76955475330927 | 1532 | 6648 | 76858907-76858946, 76858962, 76858991-76858995, 76867779-76867782, 76873342-76873347, 76873354, 76873902, 76883801-76883904, 76883921-76883925, 76885802-76885812, 76885826, 76885841-76885902, 76885922-76885960, 76886418-76886457, 76886467, 76886476-76886477, 76886487-76886510, 76888595-76888689, 76890091-76890138, 76890159-76890175, 76890781-76890851, 76890865-76890999, 76891420-76891527, 76892435-76892457, 76892465-76892511, 76892546-76892635, 76892997-76893104, 76893115-76893200, 76893469-76893489, 76893509-76893596, 76893604-76893645, 76894113-76894137, 76895633-76895665, 76895742-76895755, 76900418-76900441, 76901065-76901069, 76901140, 76901164-76901184, 76901805, 76901809-76901818, 76903096-76903157, 76903311-76903320 |
| 113 | FZD4 | 11 | 0.9634448574969 | 59 | 1614 | 86665847-86665857, 86665916, 86666043-86666046, 86666075-86666117 |
| 114 | TRPC6 | 11 | 0.99749642346209 | 7 | 2796 | 101454159-101454165 |
| 115 | ALG9 | 11 | 0.99945533769063 | 1 | 1836 | 111742117 |
| 116 | DLAT | 11 | 0.99794238683128 | 4 | 1944 | 111896228, 111896233-111896234, 111896239 |
| 117 | APOA1 | 11 | 0.96019900497512 | 32 | 804 | 116706622-116706624, 116706789-116706811, 116706838-116706842, 116706930 |
| 118 | FXYD2 | 11 | 0.82648401826484 | 76 | 438 | 117693024-117693030, 117693255, 117693269-117693272, 117693290-117693339, 117693414, 117693420-117693421, 117693428-117693432, 117695369-117695374 |
| 119 | HMBS | 11 | 0.97329650092081 | 29 | 1086 | 118955748-118955776 |
| 120 | TECTA | 11 | 0.99907192575406 | 6 | 6465 | 120989165, 120989170, 120989197, 120989368, 120989371, 120996374 |
| 121 | ROBO3 | 11 | 0.99927901946647 | 3 | 4161 | 124735619-124735621 |
| 122 | ACAD8 | 11 | 0.99919871794872 | 1 | 1248 | 134123600 |
| 123 | WNK1 | 12 | 0.99608336830326 | 28 | 7149 | 862982-862989, 863186, 863190-863203, 863207-863208, 863353-863355 |
| 124 | CACNA1C | 12 | 0.99344612101814 | 43 | 6561 | 2566860, 2676771, 2676784, 2676788, 2676892-2676896, 2760870-2760875, 2794937, 2797831-2797848, 2800349-2800357 |
| 125 | KCNA1 | 12 | 0.99932795698925 | 1 | 1488 | 5020841 |
| 126 | VWF | 12 | 0.98460080549633 | 130 | 8442 | 6058181-6058196, 6058280-6058315, 6058335-6058339, 6059002-6059007, 6131925-6131932, 6131955-6131982, 6132003-6132033 |
| 127 | TNFRSF1A | 12 | 0.99707602339181 | 4 | 1368 | 6438680, 6438683-6438685 |
| 128 | TPI1 | 12 | 0.996 | 3 | 750 | 6976731, 6976844-6976845 |
| 129 | ATN1 | 12 | 0.99916036943745 | 3 | 3573 | 7045892-7045894 |
| 130 | CDKN1B | 12 | 0.93299832495812 | 40 | 597 | 12870851-12870890 |
| 131 | GYS2 | 12 | 0.99526515151515 | 10 | 2112 | 21712033, 21712040-21712041, 21712045-21712049, 21712052, 21733302 |
| 132 | ABCC9 | 12 | 0.99978494623656 | 1 | 4650 | 22025633 |
| 133 | DNM1L | 12 | 0.99864314789688 | 3 | 2211 | 32866244-32866245, 32884796 |
| 134 | PKP2 | 12 | 0.92124105011933 | 198 | 2514 | 33031150-33031158, 33031235-33031236, 33031348-33031379, 33049443-33049460, 33049468-33049471, 33049480-33049484, 33049491-33049535, 33049542-33049563, 33049589, 33049598, 33049607-33049665 |
| 135 | LRRK2 | 12 | 0.99986814345992 | 1 | 7584 | 40761564 |
| 136 | COL2A1 | 12 | 0.99798387096774 | 9 | 4464 | 48369785, 48370342, 48374359-48374365 |
| 137 | MLL2 | 12 | 0.96388587937884 | 600 | 16614 | 49420771-49420773, 49424146-49424161, 49425162-49425165, 49425711-49425719, 49425723, 49425790, 49425824-49425826, 49426158-49426159, 49426568-49426570, 49426770-49426786, 49426896-49426926, 49427043-49427092, 49427120-49427122, 49427125, 49427134, 49427266-49427288, 49427313-49427332, 49427443-49427451, 49427544-49427578, 49427639, 49427648-49427664, 49430929-49430935, 49430981-49431001, 49431025-49431026, 49431156-49431167, 49431191-49431210, 49431289-49431296, 49431303-49431322, 49431339-49431363, 49431419-49431425, 49431495-49431554, 49431574-49431594, 49431738-49431740, 49431786-49431791, 49431817-49431829, 49431847-49431848, 49431885-49431911, 49431990-49432012, 49432066-49432071, 49432074-49432076, 49432190, 49432500-49432506, 49432572-49432573, 49432619, 49433121-49433123, 49433251-49433257, 49433316-49433317, 49433323-49433336, 49433368-49433372, 49434054-49434071, 49434074, 49434383, 49434940, 49435187 |
| 138 | TUBA1A | 12 | 0.98684210526316 | 6 | 456 | 49522213, 49522268-49522269, 49522445, 49522457, 49522468 |
| 139 | KRT81 | 12 | 0.9828722002635 | 26 | 1518 | 52684038-52684057, 52685188-52685193 |
| 140 | KRT6B | 12 | 0.97994100294985 | 34 | 1695 | 52845528-52845534, 52845598-52845613, 52845677-52845686, 52845801 |
| 141 | KRT6C | 12 | 0.9882005899705 | 20 | 1695 | 52867190, 52867257-52867263, 52867324, 52867339-52867342, 52867457-52867463 |
| 142 | KRT6A | 12 | 0.99587020648968 | 7 | 1695 | 52886908-52886914 |
| 143 | KRT4 | 12 | 0.99607843137255 | 7 | 1785 | 53204544-53204550 |
| 144 | AAAS | 12 | 0.9945155393053 | 9 | 1641 | 53702943-53702948, 53708153, 53708553-53708554 |
| 145 | RPS26 | 12 | 0.99137931034483 | 3 | 348 | 56436209-56436211 |
| 146 | CYP27B1 | 12 | 0.99869024230517 | 2 | 1527 | 58158975-58158976 |
| 147 | GNS | 12 | 0.99758890898131 | 4 | 1659 | 65152981-65152984 |
| 148 | LEMD3 | 12 | 0.99597953216374 | 11 | 2736 | 65563396-65563405, 65563926 |
| 149 | GNPTAB | 12 | 0.99840891010342 | 6 | 3771 | 102224448-102224453 |
| 150 | UNG | 12 | 0.97983014861996 | 19 | 942 | 109535587-109535605 |
| 151 | MMAB | 12 | 0.8406374501992 | 120 | 753 | 109994839-109994843, 109998886-109998888, 109998892-109998894, 109999279-109999282, 109999585-109999586, 110009510-110009515, 110011157-110011204, 110011218-110011227, 110011234-110011241, 110011255-110011285 |
| 152 | MVK | 12 | 0.99328295549958 | 8 | 1191 | 110013836-110013840, 110017679-110017681 |
| 153 | TRPV4 | 12 | 0.99770642201835 | 6 | 2616 | 110246164-110246169 |
| 154 | ATP2A2 | 12 | 0.99680409076382 | 10 | 3129 | 110719600-110719603, 110719608, 110719613-110719614, 110719623, 110719629, 110784236 |
| 155 | MYL2 | 12 | 0.98203592814371 | 9 | 501 | 111348885-111348893 |
| 156 | ATXN2 | 12 | 0.83333333333333 | 657 | 3942 | 112036588-112036844, 112036860-112037028, 112037044-112037169, 112037183-112037190, 112037201-112037238, 112037260-112037318 |
| 157 | SDS | 12 | 0.99696048632219 | 3 | 987 | 113835117, 113835122-113835123 |
| 158 | ACADS | 12 | 0.98305084745763 | 21 | 1239 | 121176387-121176402, 121176967-121176971 |
| 159 | HNF1A | 12 | 0.9873417721519 | 24 | 1896 | 121416692, 121416840-121416846, 121434197-121434199, 121437380-121437382, 121438958-121438965, 121438994-121438995 |
| 160 | HPD | 12 | 0.84856175972927 | 179 | 1182 | 122284773-122284776, 122284979-122284986, 122285058-122285095, 122286947-122286953, 122287593-122287629, 122287681-122287696, 122292611-122292634, 122292693, 122294275-122294310, 122294498, 122294515, 122294522-122294525, 122295335, 122295695 |
| 161 | EIF2B1 | 12 | 0.92483660130719 | 69 | 918 | 124114716-124114735, 124115035, 124116892-124116925, 124116980, 124118092-124118104 |
| 162 | ATP6V0A2 | 12 | 0.99922209257098 | 2 | 2571 | 124197165-124197166 |
| 163 | PUS1 | 12 | 0.85046728971963 | 192 | 1284 | 132414281-132414310, 132414318-132414319, 132414455-132414469, 132414482-132414531, 132414598-132414636, 132414660, 132414673-132414676, 132425971-132425987, 132426313-132426319, 132426490-132426516 |
| 164 | SACS | 13 | 0.9990538573508 | 13 | 13740 | 23911968, 23912784, 23913016-23913024, 23949271-23949272 |
| 165 | PDX1 | 13 | 0.97769953051643 | 19 | 852 | 28494579-28494597 |
| 166 | B3GALTL | 13 | 0.97661990647963 | 35 | 1497 | 31774222-31774240, 31774249-31774264 |
| 167 | BRCA2 | 13 | 0.99970751681778 | 3 | 10257 | 32911596-32911598 |
| 168 | FREM2 | 13 | 0.99905362776025 | 9 | 9510 | 39261906-39261907, 39261912, 39420806-39420810, 39433713 |
| 169 | TNFSF11 | 13 | 0.9979035639413 | 2 | 954 | 43148548-43148549 |
| 170 | ZIC2 | 13 | 0.87492182614134 | 200 | 1599 | 100634390-100634421, 100634440-100634457, 100634516, 100634541-100634559, 100634592-100634602, 100634883, 100634886, 100635008-100635013, 100635059-100635060, 100637603, 100637606, 100637609-100637610, 100637683-100637687, 100637693, 100637713-100637716, 100637731, 100637734-100637762, 100637780-100637781, 100637790-100637831, 100637853-100637865, 100637887, 100637929-100637935 |
| 171 | PCCA | 13 | 0.99359853680841 | 14 | 2187 | 100741431-100741437, 101101514-101101520 |
| 172 | COL4A1 | 13 | 0.99740518962076 | 13 | 5010 | 110838788-110838795, 110864268-110864269, 110959313, 110959316, 110959327 |
| 173 | F7 | 13 | 0.29737827715356 | 938 | 1335 | 113760156-113760201, 113760212-113760219, 113765004-113765048, 113765053-113765055, 113765070-113765160, 113768085-113768090, 113768169-113768199, 113768226-113768274, 113769974-113770114, 113771110-113771121, 113771128, 113771148-113771151, 113771155, 113771177-113771183, 113771815-113771863, 113771884-113771896, 113772727-113773004, 113773027-113773047, 113773092-113773095, 113773110, 113773120-113773143, 113773162, 113773165-113773193, 113773230-113773252, 113773273-113773322 |
| 174 | F10 | 13 | 0.93319700068166 | 98 | 1467 | 113777170-113777175, 113777198-113777239, 113798222-113798228, 113803370-113803372, 113803384, 113803406, 113803565-113803585, 113803596-113803599, 113803681-113803687, 113803692, 113803826-113803830 |
| 175 | GRK1 | 13 | 0.96513002364066 | 59 | 1692 | 114321933-114321942, 114322158-114322164, 114322189, 114322222-114322239, 114325951-114325971, 114426048, 114426052 |
| 176 | TEP1 | 14 | 0.98997970573313 | 79 | 7884 | 20841298-20841306, 20841869, 20846950, 20848465-20848471, 20849175-20849181, 20850469-20850476, 20851772, 20852759-20852789, 20853177-20853187, 20854619, 20854629-20854630 |
| 177 | RPGRIP1 | 14 | 0.998704998705 | 5 | 3861 | 21762905-21762907, 21769156, 21769159 |
| 178 | SLC7A7 | 14 | 0.98828125 | 18 | 1536 | 23282117-23282131, 23282384, 23282431, 23282498 |
| 179 | PABPN1 | 14 | 0.9500542888165 | 46 | 921 | 23790681-23790683, 23790700-23790702, 23790705-23790707, 23790743, 23790758, 23790882-23790898, 23791012-23791029 |
| 180 | MYH6 | 14 | 0.99931271477663 | 4 | 5820 | 23863302, 23863307-23863308, 23871995 |
| 181 | NRL | 14 | 0.99439775910364 | 4 | 714 | 24550545, 24550614-24550615, 24550627 |
| 182 | TGM1 | 14 | 0.98777506112469 | 30 | 2454 | 24724379-24724383, 24724426-24724433, 24725241-24725243, 24727584-24727588, 24727785-24727791, 24731426, 24731431 |
| 183 | FOXG1 | 14 | 0.74421768707483 | 376 | 1470 | 29236528-29236548, 29236620-29236964, 29237059, 29237302, 29237313-29237320 |
| 184 | NKX2-1 | 14 | 0.98590381426202 | 17 | 1206 | 36986670-36986672, 36986824, 36986827, 36986830-36986835, 36986889-36986893, 36988391 |
| 185 | MGAT2 | 14 | 0.99776785714286 | 3 | 1344 | 50088126-50088128 |
| 186 | C14orf104 | 14 | 0.90731901352426 | 233 | 2514 | 50100593, 50100601, 50100683, 50100712-50100721, 50100748-50100784, 50100819, 50100938-50100947, 50100977-50101022, 50101039-50101048, 50101071, 50101074, 50101077-50101078, 50101081-50101096, 50101124, 50101132, 50101137, 50101253-50101259, 50101370, 50101380, 50101406-50101432, 50101451-50101479, 50101546-50101571, 50101638, 50101682 |
| 187 | GCH1 | 14 | 0.89641434262948 | 78 | 753 | 55312498-55312509, 55369048-55369090, 55369133-55369138, 55369274-55369284, 55369310-55369313, 55369327, 55369373 |
| 188 | VSX2 | 14 | 0.97421731123389 | 28 | 1086 | 74706347, 74706425, 74706467-74706491, 74706495 |
| 189 | EIF2B2 | 14 | 0.98863636363636 | 12 | 1056 | 75471592-75471603 |
| 190 | POMT2 | 14 | 0.97114957833999 | 65 | 2253 | 77786777-77786783, 77786862-77786893, 77786896, 77786901-77786902, 77786937-77786945, 77786967-77786974, 77787007-77787012 |
| 191 | ATXN3 | 14 | 0.99723756906077 | 3 | 1086 | 92537355-92537357 |
| 192 | SERPINA1 | 14 | 0.99840891010342 | 2 | 1257 | 94849348, 94849370 |
| 193 | AMN | 14 | 0.050660792951542 | 1293 | 1362 | 103389026-103389068, 103390048-103390063, 103390072-103390166, 103390272-103390279, 103390310-103390313, 103394763-103394836, 103394849-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395815, 103395822-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396787, 103396798-103396830, 103396913-103397017 |
| 194 | INF2 | 14 | 0.31466666666667 | 2570 | 3750 | 105167703-105167725, 105167736-105167752, 105167772-105167773, 105167778-105167800, 105167807, 105167823-105168054, 105168083-105168093, 105169442, 105169459-105169476, 105169513-105169534, 105169632-105169654, 105169662-105169664, 105169679-105169684, 105169697, 105169706-105169718, 105169733-105169791, 105170253-105170286, 105172372-105172472, 105172493-105172513, 105173247, 105173261-105173287, 105173291-105173294, 105173313-105173336, 105173355-105173380, 105173590-105173618, 105173648-105173699, 105173715, 105173719-105173834, 105173844-105174293, 105174318-105174339, 105174773-105174881, 105174889-105174924, 105175054-105175064, 105175640, 105175644, 105175650-105175657, 105175670-105175679, 105175705-105175720, 105175957-105176036, 105176425-105176464, 105176471, 105176489-105176525, 105177274-105177285, 105177302-105177344, 105177460-105177523, 105177996-105178000, 105178013-105178036, 105178778-105178798, 105178808-105178840, 105178846-105178850, 105178863-105178890, 105179194, 105179204-105179290, 105179319-105179321, 105179325-105179329, 105179544-105179572, 105179599-105179635, 105179782-105179830, 105179852-105179884, 105179906-105179934, 105180558-105180566, 105180596-105180668, 105180695, 105180700, 105180706, 105180773, 105180778, 105180782-105180790, 105180793, 105180799, 105180847-105180886, 105180918-105180942, 105180953-105180983, 105180994, 105181001-105181016, 105181050-105181057, 105181067-105181157, 105181178, 105181182-105181191, 105181628-105181655 |
| 195 | NIPA1 | 15 | 0.81010101010101 | 188 | 990 | 23048847, 23049072-23049079, 23062287, 23086234-23086411 |
| 196 | SLC12A6 | 15 | 0.99942079351289 | 2 | 3453 | 34628819-34628820 |
| 197 | IVD | 15 | 0.99531615925059 | 6 | 1281 | 40698020-40698025 |
| 198 | CHST14 | 15 | 0.91777188328912 | 93 | 1131 | 40763417, 40763423-40763425, 40763428-40763455, 40763498-40763501, 40763504-40763541, 40763567-40763572, 40763576-40763587, 40763815 |
| 199 | STRC | 15 | 0.9923048048048 | 41 | 5328 | 43910863-43910903 |
| 200 | SPG11 | 15 | 0.99972722313148 | 2 | 7332 | 44864903-44864904 |
| 201 | DUOX2 | 15 | 0.99720249623413 | 13 | 4647 | 45403625, 45403722, 45403752-45403755, 45404054-45404060 |
| 202 | CEP152 | 15 | 0.99838872104733 | 8 | 4965 | 49036437-49036443, 49037170 |
| 203 | SCG3 | 15 | 0.99786780383795 | 3 | 1407 | 51988113-51988114, 51988117 |
| 204 | TPM1 | 15 | 0.91111111111111 | 76 | 855 | 63335047, 63335080-63335104, 63335123-63335142, 63335944-63335972, 63336030 |
| 205 | SPG21 | 15 | 0.99460625674218 | 5 | 927 | 65257678-65257681, 65257684 |
| 206 | CLN6 | 15 | 0.97222222222222 | 26 | 936 | 68500484-68500496, 68521910-68521922 |
| 207 | HEXA | 15 | 0.98993710691824 | 16 | 1590 | 72668117-72668132 |
| 208 | HCN4 | 15 | 0.89617940199336 | 375 | 3612 | 73614831-73614834, 73614876-73614895, 73614922-73614928, 73614992-73614999, 73615096-73615097, 73615150-73615170, 73615358-73615360, 73615425, 73659827-73659831, 73659976-73659992, 73660032-73660065, 73660105-73660174, 73660239-73660262, 73660339-73660381, 73660406-73660457, 73660469, 73660480, 73660486-73660489, 73660493-73660511, 73660551-73660555, 73660559-73660581, 73660593, 73660602-73660611 |
| 209 | PSTPIP1 | 15 | 0.15987210231815 | 1051 | 1251 | 77310489-77310589, 77310800-77310809, 77310831-77310872, 77317625-77317630, 77317647-77317648, 77317654, 77317659, 77317859, 77317894-77317938, 77320193-77320255, 77320895-77320993, 77321870-77321886, 77321898-77321915, 77322847, 77322866-77322900, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 210 | POLG | 15 | 0.99301075268817 | 26 | 3720 | 89876808-89876821, 89876828-89876839 |
| 211 | MESP2 | 15 | 0.83082077051926 | 202 | 1194 | 90319665-90319677, 90319765-90319778, 90319795-90319837, 90319846-90319873, 90319903-90319904, 90319974, 90319999-90320003, 90320118-90320127, 90320135-90320146, 90320149, 90320161, 90320176, 90320229, 90320235-90320251, 90320388-90320397, 90320416-90320451, 90321518-90321524 |
| 212 | BLM | 15 | 0.99083215796897 | 39 | 4254 | 91337525-91337527, 91337552-91337587 |
| 213 | IGF1R | 15 | 0.99731968810916 | 11 | 4104 | 99192861-99192871 |
| 214 | HBZ | 16 | 0.47785547785548 | 224 | 429 | 202918, 202921, 202969-202993, 203899, 203928-204058, 204085-204095, 204274-204320, 204329-204335 |
| 215 | HBA2 | 16 | 0.79254079254079 | 89 | 429 | 222919, 222924-222937, 222960-223006, 223168-223187, 223263, 223299-223300, 223532-223535 |
| 216 | GNPTG | 16 | 0.83986928104575 | 147 | 918 | 1401967-1402018, 1402106-1402145, 1402156-1402160, 1402240-1402255, 1402277-1402307, 1412276-1412278 |
| 217 | CLCN7 | 16 | 0.58808933002481 | 996 | 2418 | 1496632-1496675, 1497017-1497056, 1497080-1497087, 1497393-1497523, 1497537-1497554, 1497656-1497715, 1498356-1498394, 1498409-1498414, 1498417-1498435, 1498443-1498485, 1498682-1498685, 1498706, 1498709, 1498721-1498767, 1498980-1499005, 1499044-1499069, 1499277-1499328, 1500498-1500508, 1500538-1500564, 1500577-1500667, 1501650-1501655, 1501660-1501670, 1501679-1501717, 1502765, 1502768-1502786, 1502832-1502866, 1503873-1503876, 1504412-1504425, 1505787, 1505791-1505794, 1506115-1506122, 1506149-1506166, 1506169, 1506177, 1506190-1506207, 1507333-1507338, 1509169-1509184, 1524835, 1524850, 1524878-1524975 |
| 218 | IGFALS | 16 | 0.26915113871636 | 1412 | 1932 | 1840601-1840669, 1840691, 1840699, 1840708, 1840719-1840731, 1840755-1840811, 1840846-1840874, 1840892-1840929, 1840944-1840974, 1840984-1841165, 1841171-1841181, 1841205-1841318, 1841330-1841334, 1841337-1841344, 1841352-1841367, 1841379-1841406, 1841425-1841436, 1841445-1841497, 1841506-1841597, 1841604-1841649, 1841657, 1841679, 1841685-1841777, 1841783, 1841808-1841888, 1841898-1842000, 1842028-1842104, 1842110-1842127, 1842161, 1842178-1842199, 1842209-1842214, 1842243-1842244, 1842247-1842251, 1842255-1842292, 1842297, 1842312-1842334, 1842357-1842365, 1842371-1842485, 1843646-1843653 |
| 219 | GFER | 16 | 0.18608414239482 | 503 | 618 | 2034220-2034477, 2034751, 2034780-2034785, 2034789-2034841, 2034844, 2034858-2034864, 2034872, 2034887-2034911, 2034925-2034928, 2034934, 2035868, 2035878-2035991, 2035999-2036029 |
| 220 | TSC2 | 16 | 0.3158185840708 | 3711 | 5424 | 2098626-2098632, 2098710-2098711, 2098715-2098728, 2098748-2098754, 2100401-2100438, 2103345, 2103384-2103387, 2103419-2103441, 2106202-2106209, 2106216, 2106220-2106228, 2106666, 2108752-2108779, 2110690, 2110719, 2110731, 2110767-2110814, 2111909, 2111949-2111981, 2112498-2112508, 2112554, 2112570-2112599, 2112983-2113036, 2113051-2113054, 2114273-2114291, 2114297, 2114343-2114425, 2115523-2115541, 2115576, 2115580-2115601, 2115604, 2120457, 2120484-2120490, 2120537-2120577, 2121511-2121513, 2121523-2121610, 2121617, 2121838-2121935, 2122242-2122258, 2122279-2122309, 2122317-2122333, 2122339, 2122354-2122356, 2122360-2122364, 2122880-2122926, 2122935-2122961, 2122965, 2124201-2124230, 2124242-2124256, 2124269-2124346, 2124357-2124377, 2125800-2125835, 2125851, 2126079-2126121, 2126137-2126171, 2126492-2126586, 2127635-2127682, 2127699-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131701, 2131713-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138076, 2138094-2138140, 2138228-2138326, 2138447-2138597, 2138610-2138611 |
| 221 | PKD1 | 16 | 0.00023234200743494 | 12909 | 12912 | 2139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142186, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690 |
| 222 | ABCA3 | 16 | 0.94291300097752 | 292 | 5115 | 2326675, 2327620, 2327937-2327941, 2328299-2328301, 2328307-2328310, 2328313-2328315, 2328387-2328391, 2328404-2328405, 2328413-2328417, 2328977-2328981, 2328985-2328990, 2331137-2331146, 2331397-2331416, 2331430, 2331441-2331444, 2331502-2331510, 2333196-2333204, 2333228-2333237, 2333256-2333260, 2333333-2333359, 2334323-2334324, 2334350-2334356, 2334958-2334959, 2334994-2334999, 2338079, 2338201, 2339523, 2339558-2339562, 2339597, 2345643-2345662, 2345665, 2345675-2345678, 2347341-2347366, 2347396-2347407, 2347413, 2347430-2347441, 2347767-2347783, 2347889-2347894, 2348528-2348541, 2349523-2349526, 2350006-2350008, 2350027-2350030, 2354149-2354151, 2367688-2367690, 2369615 |
| 223 | MEFV | 16 | 0.97442455242967 | 60 | 2346 | 3293284-3293296, 3293888, 3297244-3297246, 3299490, 3299497, 3299504, 3304487-3304495, 3304665-3304667, 3304670-3304672, 3304681-3304682, 3304700, 3306339-3306352, 3306369-3306371, 3306375, 3306389, 3306393-3306394, 3306412 |
| 224 | SLX4 | 16 | 0.98365122615804 | 90 | 5505 | 3632523, 3632532-3632534, 3639273-3639275, 3639341, 3639451, 3639782-3639785, 3639849-3639851, 3639957, 3639987, 3639992, 3642805-3642808, 3644488, 3646220-3646224, 3646265, 3647444, 3647548-3647577, 3647885-3647911, 3651168, 3652143 |
| 225 | CREBBP | 16 | 0.960021831082 | 293 | 7329 | 3777772-3777803, 3778136-3778138, 3778147, 3778150-3778160, 3778286-3778320, 3778401-3778403, 3778424-3778467, 3778629-3778649, 3778680-3778689, 3778897-3778898, 3778905, 3778909-3778912, 3778975-3779020, 3779063-3779097, 3779106, 3779110-3779113, 3779122, 3779157-3779158, 3779450-3779482, 3779486-3779488, 3779491 |
| 226 | GLIS2 | 16 | 0.0044444444444445 | 1568 | 1575 | 4382282-4382453, 4383348-4383520, 4384802-4384978, 4385061-4385194, 4385276-4385387, 4386726-4387525 |
| 227 | ALG1 | 16 | 0.89605734767025 | 145 | 1395 | 5121893-5121907, 5128815-5128829, 5128836, 5128853-5128854, 5128864-5128869, 5129065, 5129069, 5130947-5130984, 5131013-5131047, 5134807-5134821, 5134867-5134882 |
| 228 | ABAT | 16 | 0.99467731204258 | 8 | 1503 | 8873411-8873418 |
| 229 | MYH11 | 16 | 0.99983164983165 | 1 | 5940 | 15847358 |
| 230 | ABCC6 | 16 | 0.80873226950355 | 863 | 4512 | 16244028, 16244035-16244043, 16244084, 16244548, 16244552-16244556, 16253356, 16253393, 16253399, 16253426-16253440, 16255295-16255379, 16255391, 16255408-16255421, 16256856-16256889, 16256917-16256939, 16256957, 16256964, 16256968, 16256981-16257020, 16257032-16257049, 16259480, 16259486-16259557, 16259560-16259588, 16259616-16259696, 16259766-16259790, 16263507-16263617, 16263625-16263672, 16263682-16263710, 16267154, 16267160-16267202, 16267238-16267249, 16267253-16267257, 16269768-16269791, 16271355-16271359, 16271363, 16271375-16271377, 16271407-16271443, 16271470-16271474, 16271480-16271483, 16272665, 16272670, 16276299, 16276347-16276353, 16276414, 16276701, 16276704-16276705, 16276717, 16276763-16276787, 16278869, 16284161-16284167, 16291880, 16292014-16292017, 16317266-16317286 |
| 231 | UMOD | 16 | 0.97035881435257 | 57 | 1923 | 20359854-20359879, 20360064-20360066, 20360309-20360317, 20360352-20360370 |
| 232 | OTOA | 16 | 0.99502923976608 | 17 | 3420 | 21689836, 21696651-21696666 |
| 233 | CLN3 | 16 | 0.98861047835991 | 15 | 1317 | 28497681, 28497714, 28497717-28497718, 28498987-28498990, 28499009, 28499034-28499039 |
| 234 | TUFM | 16 | 0.95760233918129 | 58 | 1368 | 28857407-28857427, 28857554-28857590 |
| 235 | ATP2A1 | 16 | 0.99700598802395 | 9 | 3006 | 28893772-28893778, 28893904, 28895896 |
| 236 | PHKG2 | 16 | 0.96723996723997 | 40 | 1221 | 30760142-30760172, 30760187, 30760229-30760236 |
| 237 | FUS | 16 | 0.99810246679317 | 3 | 1581 | 31195279, 31195290, 31196471 |
| 238 | SLC5A2 | 16 | 0.99009410599307 | 20 | 2019 | 31494527, 31500014, 31500075-31500082, 31500087, 31500225, 31500334-31500340, 31500477 |
| 239 | PHKB | 16 | 0.99969530773918 | 1 | 3282 | 47732375 |
| 240 | NOD2 | 16 | 0.99359590137688 | 20 | 3123 | 50745369-50745379, 50745382, 50745523, 50746148-50746154 |
| 241 | SALL1 | 16 | 0.99672955974843 | 13 | 3975 | 51175656-51175661, 51185097-51185103 |
| 242 | SLC12A3 | 16 | 0.91238279987068 | 271 | 3093 | 56899217-56899223, 56904587, 56906644-56906656, 56911989-56911990, 56912038-56912045, 56913022-56913027, 56913478-56913512, 56918106-56918108, 56919260-56919276, 56920307, 56920376-56920377, 56920380-56920387, 56920865-56920867, 56920888-56920909, 56920949-56920981, 56921004-56921005, 56921837-56921943, 56936316 |
| 243 | CNGB1 | 16 | 0.99946751863685 | 2 | 3756 | 57996880-57996881 |
| 244 | TK2 | 16 | 0.98917748917749 | 10 | 924 | 66584013-66584018, 66584032, 66584044-66584046 |
| 245 | HSD11B2 | 16 | 0.86781609195402 | 161 | 1218 | 67465169-67465278, 67465287-67465315, 67465348-67465352, 67465400-67465416 |
| 246 | LCAT | 16 | 0.87528344671202 | 165 | 1323 | 67973819-67973820, 67973823-67973833, 67973875-67973880, 67973915-67973945, 67974008-67974010, 67974096-67974100, 67974181-67974185, 67974278-67974292, 67974377-67974381, 67976332-67976336, 67976403-67976408, 67976415, 67976419-67976420, 67976424, 67976433-67976444, 67976472-67976486, 67976596, 67976599-67976606, 67976774-67976775, 67976778, 67976967-67976985, 67977007-67977012, 67977979-67977980, 67977990 |
| 247 | CDH3 | 16 | 0.97429718875502 | 64 | 2490 | 68718654-68718668, 68718716, 68721589-68721613, 68725746-68725757, 68725781, 68725795-68725804 |
| 248 | CDH1 | 16 | 0.99622499056248 | 10 | 2649 | 68771319-68771323, 68771348-68771352 |
| 249 | COG8 | 16 | 0.84176182707993 | 291 | 1839 | 69364742-69364746, 69364772-69364850, 69364857-69364862, 69364885-69364941, 69364951, 69364962, 69364970, 69364973, 69366735, 69366739, 69368615, 69373079-69373102, 69373128-69373154, 69373204-69373251, 69373262-69373266, 69373274-69373275, 69373310-69373334, 69373387, 69373404, 69373415-69373418 |
| 250 | AARS | 16 | 0.99243206054352 | 22 | 2907 | 70286643-70286649, 70298919-70298930, 70299512-70299513, 70316593 |
| 251 | HP | 16 | 0.99344799344799 | 8 | 1221 | 72094347-72094353, 72094654 |
| 252 | GCSH | 16 | 0.7816091954023 | 114 | 522 | 81129736-81129778, 81129791-81129843, 81129866-81129883 |
| 253 | GAN | 16 | 0.98383500557414 | 29 | 1794 | 81348719, 81348762-81348769, 81348790-81348809 |
| 254 | MLYCD | 16 | 0.90688259109312 | 138 | 1482 | 83932830-83932848, 83932920-83932939, 83932979-83932980, 83932985-83933011, 83933080-83933113, 83933119-83933128, 83933168-83933184, 83933205-83933206, 83948761-83948767 |
| 255 | LRRC50 | 16 | 0.97750229568411 | 49 | 2178 | 84199429-84199462, 84203806-84203814, 84209562-84209567 |
| 256 | FOXF1 | 16 | 0.93508771929825 | 74 | 1140 | 86544178-86544184, 86544188-86544190, 86544207-86544253, 86544263-86544269, 86544384-86544389, 86544695-86544697, 86544700 |
| 257 | FOXC2 | 16 | 0.67330677290837 | 492 | 1506 | 86600954-86600955, 86600967, 86601038-86601052, 86601092-86601145, 86601324-86601341, 86601412-86601453, 86601476-86601487, 86601502, 86601504-86601520, 86601531-86601536, 86601542-86601550, 86601557, 86601596, 86601660-86601728, 86601749-86601752, 86601781-86601796, 86601822-86601834, 86601852-86601884, 86601903-86601951, 86601969-86601972, 86601986-86601994, 86602002, 86602022-86602059, 86602120-86602122, 86602128-86602133, 86602183-86602213, 86602261-86602278, 86602302-86602320 |
| 258 | JPH3 | 16 | 0.88117489986649 | 267 | 2247 | 87636869-87636875, 87678097, 87678492-87678495, 87717832-87717872, 87723255, 87723260-87723261, 87723271-87723274, 87723313-87723338, 87723359-87723382, 87723409-87723436, 87723474-87723487, 87723523-87723545, 87723549-87723583, 87723602-87723614, 87723670-87723689, 87723736, 87723744-87723752, 87723979-87723980, 87723988-87723992, 87723998, 87724003-87724008 |
| 259 | CYBA | 16 | 0.24829931972789 | 442 | 588 | 88709761-88709979, 88712524-88712567, 88712574, 88712584-88712605, 88713201-88713209, 88713221-88713246, 88713509-88713583, 88714470, 88714507, 88714511, 88717364-88717375, 88717385-88717415 |
| 260 | APRT | 16 | 0.28545119705341 | 388 | 543 | 88876108-88876141, 88876188-88876248, 88876478-88876520, 88876531-88876556, 88876831-88876859, 88876882, 88876886-88876901, 88876905, 88876912, 88876924-88876943, 88877958-88877985, 88877997-88878026, 88878034-88878064, 88878228-88878256, 88878270-88878307 |
| 261 | GALNS | 16 | 0.58317399617591 | 654 | 1569 | 88880847-88880867, 88884415-88884452, 88884459, 88884466, 88884472-88884508, 88888997-88889039, 88889050-88889058, 88889076-88889082, 88889097-88889118, 88891240, 88891262-88891277, 88893110-88893134, 88893157-88893163, 88893173-88893207, 88901636-88901639, 88901752-88901754, 88902198-88902226, 88902247-88902257, 88902609-88902615, 88904050-88904086, 88907420-88907457, 88907468-88907502, 88908321-88908334, 88908362-88908378, 88909114-88909161, 88909189-88909216, 88923166-88923285 |
| 262 | SPG7 | 16 | 0.92587939698492 | 177 | 2388 | 89574826-89574838, 89574849-89574857, 89574892-89574900, 89574913, 89574926, 89574984-89575008, 89598391-89598398, 89611140, 89614426-89614429, 89614442-89614445, 89614448-89614461, 89614490-89614521, 89616956, 89616962, 89616984-89616987, 89619400, 89619439-89619446, 89619461, 89619496-89619504, 89623386-89623389, 89623461-89623462, 89623466-89623490 |
| 263 | FANCA | 16 | 0.90842490842491 | 400 | 4368 | 89805010-89805011, 89805039-89805042, 89805052-89805068, 89805328-89805349, 89805600, 89805672, 89805676-89805694, 89805886-89805898, 89805920-89805925, 89807226-89807227, 89807262-89807274, 89809227-89809238, 89809251-89809298, 89811417, 89811439-89811442, 89811463-89811478, 89815139-89815153, 89831365, 89836432, 89837016-89837028, 89838122, 89839725, 89839754-89839755, 89842163-89842175, 89842182-89842186, 89862314-89862328, 89877123, 89877339-89877361, 89882286-89882325, 89882369-89882377, 89882945-89883023 |
| 264 | TUBB3 | 16 | 0.71175166297118 | 390 | 1353 | 89989810-89989866, 89998979-89998984, 89999044-89999045, 89999065-89999087, 89999899-89999906, 90001273, 90001276, 90001339-90001379, 90001425, 90001428, 90001432-90001441, 90001469-90001510, 90001546, 90001549, 90001588-90001596, 90001645, 90001674-90001702, 90001731-90001732, 90001736-90001750, 90001782, 90001792-90001802, 90001840-90001841, 90001853-90001866, 90001903-90001926, 90001931, 90001935, 90001967-90001969, 90002052, 90002120-90002163, 90002176-90002212 |
| 265 | PRPF8 | 17 | 0.98615867579909 | 97 | 7008 | 1554096, 1554139-1554154, 1554509-1554510, 1554591, 1555058-1555076, 1557091-1557104, 1557211-1557223, 1557299-1557310, 1558712-1558720, 1562829-1562831, 1564573-1564575, 1565433-1565436 |
| 266 | CTNS | 17 | 0.82128013300083 | 215 | 1203 | 3559781-3559811, 3559841-3559862, 3559981-3560073, 3560076, 3561302-3561322, 3561428, 3563152-3563176, 3563237-3563255, 3563542, 3563633 |
| 267 | CHRNE | 17 | 0.78205128205128 | 323 | 1482 | 4802046-4802073, 4802090-4802117, 4802309-4802327, 4802359-4802370, 4802493-4802494, 4802511-4802517, 4802552-4802582, 4802607, 4802630-4802631, 4802642-4802655, 4802763-4802789, 4802798-4802831, 4804156-4804191, 4804342-4804345, 4804393-4804399, 4804421-4804468, 4805358-4805379, 4806019 |
| 268 | GP1BA | 17 | 0.99791666666667 | 4 | 1920 | 4837171-4837172, 4837212, 4837220 |
| 269 | PITPNM3 | 17 | 0.87623931623932 | 362 | 2925 | 6358690-6358711, 6358725-6358751, 6358785-6358786, 6358849-6358875, 6358919, 6358948-6358963, 6367567-6367572, 6373614-6373621, 6373717-6373719, 6374481-6374492, 6374514-6374521, 6374560-6374578, 6374673-6374675, 6376059-6376104, 6376116-6376147, 6377814-6377822, 6377831-6377836, 6377891-6377924, 6380480-6380481, 6380486-6380487, 6381394-6381397, 6381412-6381413, 6382013-6382034, 6382046-6382050, 6386851-6386858, 6387001, 6387022-6387034, 6459705-6459726 |
| 270 | ACADVL | 17 | 0.99491869918699 | 10 | 1968 | 7123336-7123342, 7123461, 7123465-7123466 |
| 271 | CHRNB1 | 17 | 0.96613545816733 | 51 | 1506 | 7348447-7348496, 7348709 |
| 272 | GUCY2D | 17 | 0.97916666666667 | 69 | 3312 | 7906391-7906398, 7906447-7906454, 7906567-7906585, 7906599-7906617, 7906659-7906664, 7906668, 7906787-7906793, 7906858 |
| 273 | MYH8 | 17 | 0.99879600963192 | 7 | 5814 | 10302119-10302125 |
| 274 | FLCN | 17 | 0.96724137931034 | 57 | 1740 | 17117094-17117099, 17124904-17124925, 17125839, 17125857-17125860, 17127389-17127391, 17129522, 17129525, 17131252-17131259, 17131268-17131272, 17131283-17131288 |
| 275 | RAI1 | 17 | 0.97028491522461 | 170 | 5721 | 17696697-17696707, 17696753-17696755, 17697094-17697096, 17697099-17697115, 17697611-17697619, 17697847-17697866, 17698056-17698059, 17698251-17698254, 17698643-17698645, 17698649-17698656, 17698826-17698829, 17698955-17698957, 17698991-17699003, 17699261, 17699264, 17699376-17699393, 17699441-17699447, 17699621, 17699827-17699831, 17699838, 17701592-17701612, 17712732-17712744 |
| 276 | ATPAF2 | 17 | 0.98275862068966 | 15 | 870 | 17925068, 17925072, 17929672, 17931938-17931949 |
| 277 | MYO15A | 17 | 0.88133673180402 | 1257 | 10593 | 18022373-18022406, 18022461-18022467, 18022594-18022610, 18022646-18022678, 18022900-18022906, 18023027-18023029, 18023038, 18023074, 18023077-18023092, 18023433-18023447, 18023482-18023489, 18023626-18023651, 18023733-18023755, 18023781-18023795, 18023866, 18023908, 18023912-18023915, 18023928-18023932, 18023942, 18023973-18023982, 18023989-18023997, 18024001-18024002, 18024008-18024059, 18024083-18024114, 18024138-18024388, 18024397-18024495, 18024535-18024589, 18024598-18024599, 18024616-18024691, 18024722-18024740, 18024768-18024818, 18024843, 18024860, 18024869-18024872, 18024875-18024880, 18024887-18024897, 18024905-18024906, 18024910-18024911, 18024917-18024940, 18024947-18024970, 18025049-18025072, 18025083, 18025098-18025134, 18025182-18025185, 18025332-18025341, 18025394-18025428, 18025438-18025444, 18027835-18027839, 18029756-18029760, 18045393-18045413, 18046887-18046893, 18046908, 18047297-18047306, 18052836, 18057100-18057104, 18061098-18061120, 18061129-18061171, 18061853-18061858, 18070911-18070947, 18070959-18070977, 18075081-18075082, 18082083-18082085 |
| 278 | ALDH3A2 | 17 | 0.99738048461035 | 4 | 1527 | 19552356, 19559793-19559795 |
| 279 | UNC119 | 17 | 0.76348547717842 | 171 | 723 | 26875110-26875119, 26875661, 26879356-26879456, 26879480, 26879501, 26879507-26879523, 26879529-26879568 |
| 280 | NEK8 | 17 | 0.98364598364598 | 34 | 2079 | 27064866, 27067541-27067545, 27067963-27067990 |
| 281 | SLC6A4 | 17 | 0.99260433174855 | 14 | 1893 | 28543183-28543196 |
| 282 | NF1 | 17 | 0.99988262910798 | 1 | 8520 | 29665102 |
| 283 | TCAP | 17 | 0.87896825396825 | 61 | 504 | 37822077-37822097, 37822112-37822118, 37822203-37822217, 37822297-37822314 |
| 284 | KRT10 | 17 | 0.9988603988604 | 2 | 1755 | 38975328-38975329 |
| 285 | KRT9 | 17 | 0.97275641025641 | 51 | 1872 | 39727865-39727915 |
| 286 | KRT14 | 17 | 0.83932346723044 | 228 | 1419 | 39739487-39739515, 39739546-39739555, 39739563, 39739568-39739570, 39739582-39739587, 39741304-39741309, 39742642-39742648, 39742771-39742835, 39742846-39742872, 39742984-39743020, 39743029-39743065 |
| 287 | KRT16 | 17 | 0.87904360056259 | 172 | 1422 | 39766630, 39767462-39767482, 39768490-39768496, 39768686-39768732, 39768740-39768771, 39768794-39768822, 39768830-39768864 |
| 288 | KRT17 | 17 | 0.75519630484988 | 318 | 1299 | 39776924-39776935, 39776958-39776992, 39776999-39777029, 39777045-39777051, 39777100, 39777857, 39777896-39777930, 39779225-39779256, 39780331-39780338, 39780349, 39780371, 39780379, 39780385, 39780388-39780391, 39780516-39780617, 39780675-39780711, 39780722, 39780729-39780734, 39780760-39780761 |
| 289 | FKBP10 | 17 | 0.94453973699257 | 97 | 1749 | 39969336-39969340, 39969343-39969358, 39969418-39969430, 39973310-39973312, 39973323, 39974365-39974372, 39974383, 39974398-39974399, 39974438, 39974512-39974514, 39974520-39974521, 39974684-39974686, 39974723-39974740, 39975498-39975499, 39975595, 39977268-39977272, 39978599-39978608, 39978630-39978632 |
| 290 | STAT5B | 17 | 0.98773265651438 | 29 | 2364 | 40370741-40370742, 40371442-40371444, 40371738-40371761 |
| 291 | NAGLU | 17 | 0.95430107526882 | 102 | 2232 | 40688364-40688403, 40688413-40688420, 40688459-40688465, 40688518-40688554, 40688589, 40695106, 40695110, 40695707-40695712, 40695801 |
| 292 | NAGS | 17 | 0.99501557632399 | 8 | 1605 | 42082234-42082241 |
| 293 | SLC4A1 | 17 | 0.99086257309942 | 25 | 2736 | 42330686, 42330729, 42331895, 42335129-42335140, 42335402, 42335457-42335460, 42335871-42335875 |
| 294 | GRN | 17 | 0.94725028058361 | 94 | 1782 | 42426573-42426579, 42428786, 42428788-42428789, 42428925-42428929, 42429121, 42429388-42429391, 42429394-42429401, 42429433, 42429540-42429564, 42429732-42429737, 42429872-42429889, 42430059-42430074 |
| 295 | ITGA2B | 17 | 0.98814102564103 | 37 | 3120 | 42452378-42452394, 42452397-42452398, 42452461-42452465, 42452981, 42452984-42452985, 42452999, 42453512-42453518, 42457505-42457506 |
| 296 | GFAP | 17 | 0.99923017705928 | 1 | 1299 | 42992700 |
| 297 | PLEKHM1 | 17 | 0.9993692841375 | 2 | 3171 | 43552717, 43552921 |
| 298 | MAPT | 17 | 0.98670098670099 | 31 | 2331 | 44055752-44055765, 44055792-44055793, 44060673-44060687 |
| 299 | WNT3 | 17 | 0.9934456928839 | 7 | 1068 | 44851057-44851058, 44851252-44851256 |
| 300 | COL1A1 | 17 | 0.99613196814562 | 17 | 4395 | 48263373, 48264424, 48266750, 48266765, 48266768-48266776, 48271773-48271776 |
| 301 | RAD51C | 17 | 0.98762157382847 | 14 | 1131 | 56770055-56770057, 56772385-56772395 |
| 302 | CA4 | 17 | 0.97231096911608 | 26 | 939 | 58227417-58227442 |
| 303 | TBX4 | 17 | 0.98901098901099 | 18 | 1638 | 59534006-59534023 |
| 304 | ACE | 17 | 0.97781178270849 | 87 | 3921 | 61554456-61554533, 61554609-61554617 |
| 305 | GH1 | 17 | 0.87155963302752 | 84 | 654 | 61994708-61994725, 61994731, 61994761-61994767, 61994855-61994866, 61995145-61995151, 61995247, 61995377-61995413, 61995723 |
| 306 | SCN4A | 17 | 0.99491925240428 | 28 | 5511 | 62018244, 62018673, 62019103, 62041863-62041871, 62043530-62043531, 62043841-62043851, 62048590-62048592 |
| 307 | COG1 | 17 | 0.99932042133877 | 2 | 2943 | 71189491-71189492 |
| 308 | DNAI2 | 17 | 0.98954895489549 | 19 | 1818 | 72305460-72305466, 72308307-72308309, 72308336-72308338, 72308364-72308369 |
| 309 | USH1G | 17 | 0.95021645021645 | 69 | 1386 | 72915576-72915585, 72915602, 72915841-72915850, 72915944-72915957, 72916211-72916217, 72916424-72916431, 72916464-72916473, 72916488-72916489, 72916492-72916497, 72916560 |
| 310 | SLC25A19 | 17 | 0.76635514018692 | 225 | 963 | 73269654, 73269693-73269713, 73269718, 73273434-73273438, 73273477-73273526, 73273540-73273564, 73274233-73274259, 73274280-73274282, 73274345-73274348, 73274380-73274414, 73279525-73279527, 73279530-73279537, 73279624, 73279636, 73279643, 73279659, 73282389-73282404, 73282735-73282756 |
| 311 | TSEN54 | 17 | 0.77798861480076 | 351 | 1581 | 73512642-73512697, 73512828-73512882, 73512900-73512991, 73513090-73513131, 73513144-73513153, 73513242-73513252, 73513302-73513316, 73517921, 73517923-73517948, 73518243-73518247, 73518306-73518338, 73518383-73518385, 73518392, 73519413 |
| 312 | ITGB4 | 17 | 0.9460596087036 | 295 | 5469 | 73723533-73723539, 73726470-73726471, 73726479-73726483, 73726559-73726564, 73726569-73726571, 73726965, 73736481-73736491, 73738467-73738470, 73739831, 73739836, 73746928-73746934, 73748430-73748437, 73748527-73748533, 73749904-73749964, 73749972-73749974, 73750020-73750029, 73750722-73750743, 73751782-73751804, 73751848-73751859, 73751878-73751881, 73751888-73751926, 73752573-73752583, 73752609, 73752611, 73753045-73753048, 73753087-73753089, 73753120-73753133, 73753340-73753342, 73753497-73753512, 73753523-73753524, 73753527-73753529 |
| 313 | GALK1 | 17 | 0.82866836301951 | 202 | 1179 | 73754201-73754208, 73754291-73754316, 73754322-73754331, 73754376-73754409, 73754440-73754453, 73754530-73754545, 73754629-73754664, 73758808-73758814, 73759189-73759195, 73761080-73761099, 73761181-73761204 |
| 314 | UNC13D | 17 | 0.78215704246868 | 713 | 3273 | 73824061-73824077, 73824121-73824129, 73824987-73825009, 73825054-73825064, 73826123-73826129, 73826216-73826230, 73826464-73826487, 73826501-73826503, 73826741-73826742, 73827205, 73827215, 73827219, 73827246-73827250, 73827330-73827349, 73827382-73827386, 73827413-73827419, 73829047-73829049, 73830171-73830175, 73830182-73830184, 73830465-73830502, 73830530, 73830533, 73830745-73830782, 73831086-73831092, 73831526-73831541, 73831816-73831834, 73832093-73832114, 73832171-73832190, 73832312-73832337, 73832680-73832683, 73832711-73832742, 73832760-73832777, 73832897-73832903, 73832954, 73836103-73836120, 73836191, 73836895-73836899, 73838514, 73838585-73838611, 73838654-73838665, 73838684-73838694, 73838938-73838953, 73838970-73839000, 73839095-73839099, 73839110-73839154, 73839240-73839265, 73839310-73839343, 73839572-73839579, 73839595-73839600, 73840302-73840303, 73840340-73840392 |
| 315 | SEPT9 | 17 | 0.79102782509938 | 368 | 1761 | 75277626-75277636, 75398605-75398612, 75478226-75478233, 75478255-75478261, 75478267-75478323, 75478369, 75478389-75478396, 75478405-75478415, 75483623-75483628, 75483634, 75484825-75484871, 75484910-75484946, 75486850-75486855, 75486894-75486897, 75486936-75486940, 75488740, 75488765-75488771, 75488773-75488775, 75489155-75489158, 75494605-75494740 |
| 316 | GAA | 17 | 0.79993004547044 | 572 | 2859 | 78078397, 78078430-78078431, 78078506, 78078652-78078653, 78078706-78078728, 78079555, 78079610-78079633, 78079646, 78079659-78079662, 78079669, 78079691-78079693, 78081411-78081416, 78081450-78081484, 78081599-78081607, 78081639-78081642, 78081645, 78081648-78081662, 78081674-78081682, 78082089-78082120, 78082159-78082177, 78082201-78082208, 78082311-78082315, 78082323-78082341, 78082496-78082510, 78082569-78082617, 78083751-78083794, 78083854, 78084555-78084558, 78084769, 78085792-78085799, 78086397-78086438, 78086456-78086459, 78086498-78086504, 78086682-78086692, 78086752-78086757, 78090809-78090842, 78091451-78091454, 78091512-78091548, 78092027-78092034, 78092038-78092045, 78092142-78092156, 78092497-78092544, 78092578 |
| 317 | SGSH | 17 | 0.88071570576541 | 180 | 1509 | 78184357-78184360, 78184386-78184388, 78184472, 78184477, 78184493-78184497, 78184699-78184705, 78185976-78185995, 78186052-78186073, 78188084, 78188494, 78188543-78188564, 78188856, 78188862-78188863, 78188866, 78188877-78188885, 78190848-78190874, 78190907, 78194046-78194097 |
| 318 | ACTG1 | 17 | 0.69060283687943 | 349 | 1128 | 79477716-79477717, 79477824, 79477953-79477970, 79477986, 79478007, 79478038-79478085, 79478108-79478124, 79478237, 79478250-79478359, 79478373, 79478384-79478385, 79478472, 79478513-79478518, 79478522, 79478533, 79478545-79478556, 79478583-79478596, 79478624, 79478976-79478983, 79478986-79479001, 79479063-79479073, 79479263-79479264, 79479272-79479321, 79479329-79479345, 79479355, 79479375-79479380 |
| 319 | FSCN2 | 17 | 0.05341446923597 | 1400 | 1479 | 79495567-79495615, 79495626-79495898, 79495907-79495945, 79495961-79496099, 79496113-79496383, 79502078-79502169, 79502191-79502230, 79502234, 79503172-79503293, 79503648-79503815, 79503901-79504106 |
| 320 | LPIN2 | 18 | 0.99591230026013 | 11 | 2691 | 2922171-2922173, 2951113-2951120 |
| 321 | TGIF1 | 18 | 0.99751243781095 | 3 | 1206 | 3452222-3452223, 3452226 |
| 322 | AFG3L2 | 18 | 0.95446950710109 | 109 | 2394 | 12337405-12337408, 12371605-12371616, 12371621, 12376990-12377081 |
| 323 | NPC1 | 18 | 0.99713317696117 | 11 | 3837 | 21115647-21115649, 21166289, 21166298-21166304 |
| 324 | LAMA3 | 18 | 0.99870025994801 | 13 | 10002 | 21269648-21269660 |
| 325 | DSC3 | 18 | 0.98439241917503 | 42 | 2691 | 28587010, 28587014-28587017, 28598742-28598745, 28604388-28604391, 28622567-28622590, 28622622-28622626 |
| 326 | DSG2 | 18 | 0.98927613941019 | 36 | 3357 | 29078221-29078255, 29078258 |
| 327 | MYO5B | 18 | 0.99657472507662 | 19 | 5547 | 47364149-47364155, 47421389, 47429031, 47432802, 47432811, 47432943-47432950 |
| 328 | FECH | 18 | 0.98139534883721 | 24 | 1290 | 55253786-55253809 |
| 329 | CCBE1 | 18 | 0.96150696150696 | 47 | 1221 | 57134074-57134111, 57136761-57136769 |
| 330 | TNFRSF11A | 18 | 0.9708265802269 | 54 | 1851 | 59992586-59992639 |
| 331 | CTDP1 | 18 | 0.84961884961885 | 434 | 2886 | 77439948-77440126, 77440134-77440261, 77455307, 77455997-77455999, 77456019-77456039, 77457885-77457890, 77457969, 77474678-77474716, 77474788-77474790, 77474951, 77475046-77475053, 77475188-77475193, 77477551-77477576, 77496436-77496437, 77496480-77496486, 77496489, 77496507, 77496513 |
| 332 | ELANE | 19 | 0.1181592039801 | 709 | 804 | 852329-852388, 852876-853032, 853262-853403, 855575-855654, 855666-855669, 855685-855688, 855697-855794, 855958-856086, 856130-856164 |
| 333 | KISS1R | 19 | 0.49624060150376 | 603 | 1197 | 917503-917512, 917526-917572, 917584-917671, 917696-917740, 918544-918549, 918561-918610, 918623-918668, 919581-919586, 919589-919599, 919602-919603, 919882, 919895-919897, 919907-919977, 919989-920004, 920023-920045, 920069-920075, 920290-920328, 920345-920351, 920355-920397, 920418, 920551-920554, 920562-920602, 920638-920642, 920698-920723, 920744-920748 |
| 334 | STK11 | 19 | 0.16436251920123 | 1088 | 1302 | 1206914-1206956, 1206965, 1207019-1207032, 1207036-1207039, 1207044-1207048, 1207065-1207091, 1207135, 1218416-1218454, 1218467-1218499, 1219323-1219412, 1220372-1220504, 1220580-1220716, 1221212-1221339, 1221948-1222005, 1222984-1223171, 1226453-1226550, 1226558-1226646 |
| 335 | NDUFS7 | 19 | 0.59657320872274 | 259 | 642 | 1383926, 1387844, 1388524-1388555, 1388567-1388580, 1388901-1388936, 1390885-1390887, 1390894-1390906, 1390969, 1391017-1391023, 1391118-1391154, 1393241-1393245, 1393248-1393268, 1393280-1393283, 1393292-1393297, 1395391-1395443, 1395463-1395487 |
| 336 | GAMT | 19 | 0.52469135802469 | 385 | 810 | 1398766-1398770, 1398773-1398778, 1398799, 1398804-1398805, 1398810-1398811, 1398859-1398896, 1398912-1398919, 1398943-1398989, 1399008-1399025, 1399142-1399167, 1399537-1399546, 1399792-1399799, 1399820-1399866, 1399892-1399905, 1399915-1399937, 1401295-1401359, 1401368-1401379, 1401383-1401384, 1401386, 1401391-1401393, 1401396-1401397, 1401411-1401447, 1401450-1401452, 1401471-1401475 |
| 337 | RAX2 | 19 | 0.30810810810811 | 384 | 555 | 3770619-3770715, 3770744-3770800, 3770813-3770957, 3771562-3771577, 3771597-3771627, 3771652-3771656, 3771696, 3771709-3771740 |
| 338 | MAP2K2 | 19 | 0.62094763092269 | 456 | 1203 | 4090596-4090601, 4090607-4090609, 4090617, 4090622-4090639, 4090645-4090653, 4090687-4090706, 4094472-4094477, 4094488-4094490, 4095391-4095447, 4097284-4097341, 4099199-4099238, 4099248-4099284, 4099308-4099312, 4099367-4099372, 4099400-4099412, 4101039, 4101043, 4101086-4101129, 4102443, 4110507-4110522, 4110562, 4110578, 4117448-4117449, 4117461-4117463, 4117537-4117538, 4117549, 4117554-4117557, 4117560, 4117565-4117568, 4123781-4123872 |
| 339 | NDUFA11 | 19 | 0.98591549295775 | 6 | 426 | 5903623-5903628 |
| 340 | TUBB4 | 19 | 0.99850187265918 | 2 | 1335 | 6501404-6501405 |
| 341 | C3 | 19 | 0.98036858974359 | 98 | 4992 | 6697406, 6707113, 6707218-6707240, 6707248-6707256, 6707281-6707284, 6707831-6707838, 6709766-6709775, 6710737, 6713286, 6713506-6713507, 6714004-6714027, 6714038-6714051 |
| 342 | INSR | 19 | 0.96119546878766 | 161 | 4149 | 7117141-7117149, 7132312-7132328, 7142906, 7152746-7152752, 7152783-7152784, 7152811-7152818, 7163043-7163045, 7174676-7174695, 7184341-7184390, 7184579-7184581, 7184648, 7267393, 7293859-7293879, 7293885-7293902 |
| 343 | MCOLN1 | 19 | 0.88066551921974 | 208 | 1743 | 7587641-7587657, 7593727, 7593801-7593819, 7593995-7594028, 7594061-7594067, 7594476-7594487, 7594513-7594536, 7595236-7595269, 7595314-7595326, 7595372-7595387, 7598409-7598434, 7598654-7598658 |
| 344 | PNPLA6 | 19 | 0.90085341365462 | 395 | 3984 | 7600449-7600463, 7600822-7600827, 7600860-7600861, 7600889-7600899, 7601121-7601138, 7604811-7604826, 7604836-7604839, 7605035-7605040, 7605130-7605141, 7605165-7605172, 7605896-7605902, 7606477-7606499, 7606909-7606918, 7607447-7607470, 7607700-7607714, 7607812-7607814, 7607894, 7607910-7607922, 7614988-7614992, 7615184-7615193, 7615219-7615230, 7615274-7615315, 7615406-7615455, 7615495-7615504, 7615880-7615897, 7615919-7615921, 7615930, 7615944-7615967, 7616248-7616258, 7616283-7616285, 7616307-7616318 |
| 345 | STXBP2 | 19 | 0.93827160493827 | 110 | 1782 | 7702068-7702072, 7704629-7704635, 7706637-7706642, 7706997, 7707105-7707109, 7707112, 7707189, 7707192, 7707363-7707375, 7711135-7711168, 7711199-7711222, 7712064-7712074, 7712379 |
| 346 | ADAMTS10 | 19 | 0.95803140096618 | 139 | 3312 | 8649813-8649821, 8650085, 8650088, 8650455-8650464, 8651037-8651041, 8651460-8651462, 8654169-8654213, 8654220-8654249, 8654359, 8654838-8654841, 8669931-8669933, 8670004-8670027, 8670171, 8670233-8670234 |
| 347 | TYK2 | 19 | 0.45145903479237 | 1955 | 3564 | 10461510-10461517, 10461631-10461644, 10461728-10461736, 10461759-10461795, 10461830-10461838, 10463113, 10463122-10463154, 10463168-10463212, 10463602-10463642, 10463665-10463774, 10464204-10464295, 10464298-10464322, 10464718-10464765, 10464786-10464834, 10464855-10464888, 10465202-10465228, 10465245, 10465249, 10465252-10465283, 10467252-10467272, 10467311, 10467383, 10468440-10468465, 10468472-10468541, 10468548, 10468564-10468571, 10468679-10468746, 10468770-10468814, 10469851-10469903, 10469930-10469936, 10469948, 10469955, 10469961-10469978, 10472194, 10472197, 10472446-10472453, 10472516, 10472610-10472611, 10472628-10472631, 10472754-10472758, 10473025, 10473050-10473056, 10473060, 10473086-10473094, 10473106-10473132, 10473225-10473242, 10475291, 10475294, 10475301-10475302, 10475306-10475335, 10475338-10475339, 10475347, 10475350-10475364, 10475372-10475379, 10475386-10475387, 10475391-10475423, 10475427, 10475446-10475447, 10475527-10475605, 10475691-10475719, 10476229-10476295, 10476315-10476467, 10476474-10476506, 10476516-10476532, 10476569, 10476572, 10477093-10477120, 10477131-10477160, 10477193-10477238, 10478731-10478748, 10478755-10478800, 10478830-10478843, 10478846, 10478971-10478992, 10479015-10479056, 10479066-10479079, 10479092, 10488890-10489082 |
| 348 | DNM2 | 19 | 0.98737083811711 | 33 | 2613 | 10829033-10829039, 10829044, 10870424, 10870435-10870439, 10870452, 10922958-10922959, 10923018, 10923021, 10923025, 10923046-10923048, 10923052-10923053, 10941665-10941671, 10941717 |
| 349 | LDLR | 19 | 0.92837785520712 | 185 | 2583 | 11200268-11200286, 11215950-11215956, 11216153-11216157, 11216230-11216235, 11218135, 11221328-11221330, 11221349-11221352, 11221394, 11221417-11221441, 11222249-11222255, 11222300, 11222305-11222308, 11222314-11222315, 11223964-11224008, 11224065-11224066, 11224213-11224214, 11224281-11224304, 11224349, 11226874-11226888, 11231171-11231178, 11233945, 11234010, 11241959 |
| 350 | LDLR | 19 | 0.93333333333333 | 19 | 285 | 11241959, 11242099-11242116 |
| 351 | PRKCSH | 19 | 0.97101449275362 | 46 | 1587 | 11557889-11557895, 11558338-11558376 |
| 352 | MAN2B1 | 19 | 0.99472990777339 | 16 | 3036 | 12767860-12767865, 12768308-12768316, 12768325 |
| 353 | GCDH | 19 | 0.99924069855733 | 1 | 1317 | 13006845 |
| 354 | CACNA1A | 19 | 0.90081106235873 | 746 | 7521 | 13318127-13318140, 13318175-13318177, 13318185-13318205, 13318268-13318302, 13318306-13318313, 13318326, 13318329, 13318351-13318421, 13318436-13318455, 13318481-13318718, 13318732-13318778, 13318788-13318821, 13318835, 13318848-13318857, 13319593-13319597, 13319617-13319660, 13319694-13319696, 13409458-13409508, 13409538-13409547, 13409615, 13409835-13409853, 13616778-13616779, 13616887-13616936, 13616943-13616961, 13616968-13617005 |
| 355 | NOTCH3 | 19 | 0.90180878552972 | 684 | 6966 | 15271960, 15272033-15272041, 15272246, 15272333-15272347, 15281321-15281329, 15284992-15285010, 15285059-15285060, 15285094, 15285102-15285106, 15285123-15285124, 15285128, 15285159-15285165, 15285201-15285208, 15288362, 15288365, 15288369, 15288497, 15288553-15288555, 15288637, 15288648-15288649, 15288652, 15288661, 15288802-15288813, 15288817-15288818, 15291834, 15291839, 15292605-15292612, 15299859, 15299906, 15299950, 15302235-15302273, 15302287-15302296, 15302313, 15302322, 15302327-15302332, 15302336, 15302339-15302377, 15302401-15302406, 15302432, 15302435, 15302450-15302468, 15302556-15302614, 15302635, 15302638, 15302642-15302643, 15302771-15302782, 15302806-15302815, 15302842-15302848, 15302882-15302886, 15302890-15302906, 15302926-15303026, 15303032-15303065, 15303106-15303109, 15303188-15303208, 15303217-15303229, 15303255-15303265, 15303298, 15308354-15308379, 15311601-15311716 |
| 356 | JAK3 | 19 | 0.90696296296296 | 314 | 3375 | 17940917-17940969, 17941009-17941015, 17941312-17941326, 17941351-17941352, 17941377, 17941388-17941394, 17941408-17941429, 17945501-17945502, 17946857-17946859, 17949089-17949092, 17950387-17950391, 17953202, 17953209-17953245, 17953252, 17953255-17953257, 17953300-17953306, 17953362-17953364, 17953836-17953861, 17953864-17953866, 17953890-17953933, 17954197-17954202, 17954623-17954657, 17955099-17955107, 17955166-17955183 |
| 357 | SLC5A5 | 19 | 0.84989648033126 | 290 | 1932 | 17983136-17983139, 17983147, 17983150-17983151, 17983234, 17983273, 17983281-17983288, 17983317-17983327, 17983349-17983364, 17983372, 17983453-17983485, 17984947-17985009, 17985303-17985322, 17985328, 17985490-17985533, 17986774-17986788, 17986852-17986886, 17988651-17988659, 17991688, 17992809, 17994490-17994497, 17994531-17994538, 17994682-17994688 |
| 358 | IL12RB1 | 19 | 0.8667672197084 | 265 | 1989 | 18180413-18180418, 18180498-18180523, 18182935-18182936, 18186575, 18186578, 18186584-18186588, 18186609-18186633, 18186642-18186659, 18186670, 18188326, 18188360-18188369, 18188403-18188407, 18188455, 18191723-18191743, 18191755-18191757, 18191769-18191811, 18194270-18194301, 18197570-18197633 |
| 359 | COMP | 19 | 0.72779243623571 | 619 | 2274 | 18893864-18893866, 18893890, 18895046-18895048, 18896321, 18896502-18896536, 18896551, 18896604, 18896775-18896793, 18896804-18896805, 18896832-18896864, 18896889-18896938, 18898303-18898332, 18898386, 18898437, 18899021-18899080, 18899234-18899253, 18899283-18899305, 18899401-18899428, 18899449-18899486, 18899499-18899542, 18899552-18899556, 18899986-18900016, 18900035-18900043, 18900099-18900106, 18900754-18900794, 18900807-18900821, 18900862-18900881, 18900904-18900923, 18901659-18901710, 18902024-18902029, 18902053-18902070 |
| 360 | CEBPA | 19 | 0.34911792014856 | 701 | 1077 | 33792244-33792245, 33792273-33792279, 33792375-33792392, 33792492-33792521, 33792581-33792597, 33792621-33792631, 33792657-33792718, 33792724-33792868, 33792878-33793100, 33793133-33793252, 33793255-33793320 |
| 361 | SCN1B | 19 | 0.95910780669145 | 33 | 807 | 35521725-35521752, 35521760-35521764 |
| 362 | MAG | 19 | 0.81818181818182 | 342 | 1881 | 35786566, 35786576, 35786594, 35786810-35786819, 35790457-35790470, 35790477-35790505, 35790516, 35790529-35790595, 35790637-35790652, 35790682-35790716, 35790724-35790753, 35791050-35791087, 35791104-35791185, 35791286-35791288, 35800801-35800814 |
| 363 | TYROBP | 19 | 0.66371681415929 | 114 | 339 | 36398124-36398137, 36398348-36398359, 36398414, 36398422, 36398426-36398444, 36398477-36398478, 36398632-36398655, 36399070-36399110 |
| 364 | SDHAF1 | 19 | 0.98275862068966 | 6 | 348 | 36486178-36486183 |
| 365 | WDR62 | 19 | 0.99409448818898 | 27 | 4572 | 36595731-36595744, 36595888-36595900 |
| 366 | RYR1 | 19 | 0.96996758616128 | 454 | 15117 | 38931478-38931481, 38976646-38976654, 38980005, 38980009, 38987115, 38987140-38987141, 38987522-38987543, 39055685-39055688, 39055717-39055743, 39055759-39056045, 39056058-39056061, 39056079, 39056136-39056142, 39056155-39056185, 39056192, 39056197-39056202, 39056211-39056239, 39056285, 39056288, 39056298, 39056311, 39056314-39056315, 39056319-39056328, 39056355 |
| 367 | ACTN4 | 19 | 0.93092105263158 | 189 | 2736 | 39138492-39138493, 39138496-39138503, 39138514, 39207938-39207939, 39214802-39214813, 39214844, 39214953-39214954, 39215071-39215079, 39215109-39215127, 39215141, 39218636-39218651, 39219730, 39219773-39219789, 39219925-39219958, 39219970-39220010, 39220033-39220055 |
| 368 | DLL3 | 19 | 0.98976844372644 | 19 | 1857 | 39997720-39997724, 39997858-39997871 |
| 369 | PRX | 19 | 0.99794801641587 | 9 | 4386 | 40909648-40909652, 40909745-40909748 |
| 370 | TGFB1 | 19 | 0.9079283887468 | 108 | 1173 | 41837080, 41854234-41854274, 41858695-41858711, 41858823-41858829, 41858864-41858884, 41858909-41858929 |
| 371 | BCKDHA | 19 | 0.96487294469357 | 47 | 1338 | 41919982, 41929004-41929014, 41930468-41930502 |
| 372 | ATP1A3 | 19 | 0.99673735725938 | 12 | 3678 | 42470808-42470810, 42471028-42471031, 42471438-42471442 |
| 373 | BCAM | 19 | 0.95018547959724 | 94 | 1887 | 45312382-45312463, 45315423-45315428, 45324071-45324076 |
| 374 | BLOC1S3 | 19 | 0.89983579638752 | 61 | 609 | 45682572-45682573, 45682577-45682584, 45682896-45682901, 45682910-45682927, 45682939, 45682980-45683005 |
| 375 | ERCC2 | 19 | 0.87691633815156 | 281 | 2283 | 45867001-45867010, 45867020-45867031, 45867035, 45867072-45867113, 45867122-45867169, 45867247-45867335, 45867349, 45867369-45867373, 45867507-45867512, 45867575-45867589, 45867746-45867747, 45873438-45873481, 45873490, 45873794-45873798 |
| 376 | OPA3 | 19 | 0.97053406998158 | 16 | 543 | 46032405, 46087926-46087936, 46087944, 46087956-46087958 |
| 377 | SIX5 | 19 | 0.77747747747748 | 494 | 2220 | 46268914-46268927, 46268976-46269007, 46269164-46269198, 46269258-46269262, 46269638-46269642, 46269737-46269760, 46269948-46269994, 46270080, 46270147-46270159, 46270189, 46270194, 46270212-46270215, 46270345-46270369, 46271346, 46271358-46271368, 46271372-46271401, 46271407, 46271410, 46271462-46271475, 46271540-46271574, 46271601-46271612, 46271697-46271726, 46271761-46271767, 46271796-46271825, 46271835-46271877, 46271926-46271972, 46272045, 46272076-46272099 |
| 378 | DMPK | 19 | 0.87195767195767 | 242 | 1890 | 46273753, 46274239-46274245, 46274249-46274262, 46274265, 46274271, 46278292, 46280616-46280618, 46280631-46280633, 46280645-46280647, 46280761-46280762, 46281035-46281046, 46281394, 46281756-46281765, 46281793-46281804, 46281807-46281811, 46281851-46281863, 46281868-46281887, 46282617, 46285479-46285610 |
| 379 | FKRP | 19 | 0.62634408602151 | 556 | 1488 | 47258738-47258739, 47258779-47258786, 47258808-47258817, 47258839-47258842, 47258849-47258851, 47258937-47258938, 47259032-47259038, 47259068-47259084, 47259133-47259153, 47259165-47259187, 47259218-47259238, 47259252-47259301, 47259312, 47259339-47259363, 47259382-47259411, 47259429-47259458, 47259475-47259510, 47259522, 47259534-47259561, 47259573-47259587, 47259598-47259633, 47259636-47259645, 47259660-47259711, 47259719-47259748, 47259755, 47259788-47259794, 47259859-47259860, 47259920-47259924, 47259966-47259987, 47259996-47260025, 47260096-47260099, 47260171-47260193 |
| 380 | DBP | 19 | 0.39979550102249 | 587 | 978 | 49134102-49134104, 49134107, 49134112-49134131, 49134159-49134175, 49134182-49134228, 49134245-49134256, 49134297-49134309, 49136767-49136807, 49136815-49136818, 49136837, 49136840, 49136862-49136877, 49136912, 49138837-49139062, 49139082-49139189, 49139192, 49139204-49139217, 49139230-49139247, 49140152, 49140167-49140207, 49140250 |
| 381 | BCAT2 | 19 | 0.93893129770992 | 72 | 1179 | 49300216, 49303057-49303095, 49303238-49303248, 49303294-49303301, 49303308, 49303314, 49303466-49303468, 49309793, 49310325-49310331 |
| 382 | FTL | 19 | 0.97727272727273 | 12 | 528 | 49469105-49469116 |
| 383 | GYS1 | 19 | 0.9747064137308 | 56 | 2214 | 49488824-49488825, 49494657-49494662, 49494666, 49494716-49494740, 49496252-49496263, 49496319, 49496326-49496334 |
| 384 | MED25 | 19 | 0.97504456327986 | 56 | 2244 | 50321603, 50321617-50321626, 50321674-50321696, 50321728-50321732, 50322514, 50333154, 50333434-50333435, 50335403-50335405, 50338828-50338835, 50339659-50339660 |
| 385 | MYH14 | 19 | 0.98461790214368 | 94 | 6111 | 50720872-50720880, 50726563-50726570, 50752962-50752964, 50764743-50764748, 50764780-50764798, 50764885-50764890, 50766577-50766591, 50766623-50766638, 50770206-50770211, 50770213-50770214, 50770218, 50770222-50770223, 50771609 |
| 386 | KCNC3 | 19 | 0.8768689533861 | 280 | 2274 | 50823513-50823517, 50823577-50823583, 50831686-50831705, 50831728-50831733, 50831745-50831746, 50831753, 50831766-50831774, 50831887-50831898, 50831930, 50831946-50831948, 50831976-50831977, 50832011-50832019, 50832025, 50832088-50832112, 50832149-50832152, 50832156-50832168, 50832180-50832339 |
| 387 | KLK4 | 19 | 0.98954248366013 | 8 | 765 | 51412617-51412623, 51412666 |
| 388 | NLRP12 | 19 | 0.91462649089768 | 272 | 3186 | 54299250-54299256, 54301647-54301667, 54304572-54304601, 54307333, 54307357-54307376, 54308554-54308555, 54308645-54308690, 54310895, 54312849-54312912, 54312971, 54313199-54313205, 54313333-54313359, 54313509, 54313597, 54313662-54313686, 54313884, 54313969, 54313974-54313975, 54313994, 54314008-54314012, 54314100-54314102, 54314331, 54314338-54314339, 54314383, 54314386 |
| 389 | PRKCG | 19 | 0.90305635148042 | 203 | 2094 | 54392934-54392947, 54392965-54392966, 54392993, 54393000, 54393184, 54393196-54393203, 54393266-54393271, 54401720-54401721, 54401739, 54401851, 54401860, 54401866-54401882, 54403992-54403993, 54409571, 54409592, 54409650-54409664, 54409699, 54409703-54409711, 54409961-54410014, 54410040-54410044, 54410058-54410117 |
| 390 | PRPF31 | 19 | 0.898 | 153 | 1500 | 54627140-54627150, 54627992-54627993, 54629952-54629954, 54631449-54631459, 54631517-54631523, 54631680-54631698, 54631739-54631744, 54632432-54632433, 54632448-54632451, 54632516, 54632554-54632560, 54632647-54632702, 54632729-54632745, 54634801-54634807 |
| 391 | NLRP7 | 19 | 0.95793192035967 | 131 | 3114 | 55435113, 55447711, 55450447, 55450452, 55450836-55450837, 55450947, 55450954, 55451061-55451086, 55451094-55451106, 55451178, 55451200-55451248, 55451515, 55451558-55451582, 55452871, 55453002-55453008 |
| 392 | TNNT1 | 19 | 0.68821292775665 | 246 | 789 | 55644283-55644291, 55644311-55644328, 55645255-55645295, 55645508-55645524, 55648471-55648479, 55648580, 55649347, 55649350-55649371, 55649408-55649411, 55649414-55649442, 55652260, 55652275-55652321, 55652585, 55652600-55652603, 55652659-55652670, 55657808-55657810, 55658049-55658069, 55658384-55658389 |
| 393 | TNNI3 | 19 | 0.91461412151067 | 52 | 609 | 55665564-55665568, 55666158-55666168, 55667575-55667578, 55667654-55667656, 55667672, 55667681-55667700, 55668426-55668428, 55668432-55668433, 55668453-55668455 |
| 394 | TPO | 2 | 0.91827266238401 | 229 | 2802 | 1520655-1520754, 1544366-1544380, 1544395-1544495, 1546234-1546246 |
| 395 | KLF11 | 2 | 0.97141000649773 | 44 | 1539 | 10183844-10183885, 10192584-10192585 |
| 396 | MYCN | 2 | 0.93763440860215 | 87 | 1395 | 16082323-16082329, 16082358-16082361, 16082387-16082400, 16082544-16082546, 16082636-16082638, 16082658-16082672, 16082836-16082864, 16082873-16082883, 16082894 |
| 397 | APOB | 2 | 0.99583698510079 | 57 | 13692 | 21246450, 21266748-21266803 |
| 398 | POMC | 2 | 0.94154228855721 | 47 | 804 | 25384143, 25384425-25384439, 25384455-25384485 |
| 399 | HADHA | 2 | 0.98342059336824 | 38 | 2292 | 26414133-26414143, 26414415-26414441 |
| 400 | OTOF | 2 | 0.95061728395062 | 296 | 5994 | 26696896-26696912, 26697402-26697457, 26699037-26699045, 26699116-26699122, 26699153-26699176, 26699759-26699784, 26699789-26699823, 26699862-26699864, 26699867-26699898, 26700054, 26700111-26700148, 26700292-26700295, 26700307-26700311, 26700355-26700359, 26700526-26700539, 26702349-26702352, 26702425, 26702452-26702454, 26702458, 26702516-26702518, 26703756, 26705285, 26705369-26705373, 26707452 |
| 401 | ALK | 2 | 0.95784495167592 | 205 | 4863 | 30142862-30142894, 30142950-30142951, 30143180-30143218, 30143290-30143327, 30143368-30143417, 30143427-30143438, 30143483-30143513 |
| 402 | SPAST | 2 | 0.99837925445705 | 3 | 1851 | 32289019-32289021 |
| 403 | CYP1B1 | 2 | 0.91850490196078 | 133 | 1632 | 38301491-38301497, 38301505-38301512, 38301549-38301552, 38301565, 38301569, 38301765, 38301922-38301946, 38301978-38301984, 38302188-38302212, 38302228, 38302231-38302240, 38302304-38302315, 38302365-38302366, 38302377, 38302381, 38302408-38302427, 38302472-38302473, 38302476-38302480 |
| 404 | SOS1 | 2 | 0.99825087456272 | 7 | 4002 | 39224403-39224408, 39285850 |
| 405 | ABCG8 | 2 | 0.95004945598417 | 101 | 2022 | 44099115-44099139, 44099229-44099233, 44099389-44099435, 44101061-44101062, 44101122-44101125, 44101549-44101553, 44102380-44102392 |
| 406 | LRPPRC | 2 | 0.99952210274791 | 2 | 4185 | 44223085-44223086 |
| 407 | SIX3 | 2 | 0.98898898898899 | 11 | 999 | 45169523-45169529, 45169639-45169642 |
| 408 | EPCAM | 2 | 0.92804232804233 | 68 | 945 | 47596645-47596684, 47596697-47596710, 47601042-47601049, 47601133-47601138 |
| 409 | MSH2 | 2 | 0.98787878787879 | 34 | 2805 | 47630352-47630357, 47630371-47630373, 47630384-47630386, 47630460-47630469, 47630494-47630497, 47639617-47639619, 47698191-47698195 |
| 410 | MSH6 | 2 | 0.96154788145971 | 157 | 4083 | 48010374-48010375, 48010438-48010457, 48010464-48010507, 48010515-48010546, 48010555-48010579, 48010598-48010631 |
| 411 | LHCGR | 2 | 0.99571428571429 | 9 | 2100 | 48982762-48982770 |
| 412 | DYSF | 2 | 0.91163522012579 | 562 | 6360 | 71778777-71778785, 71797786-71797790, 71801416-71801465, 71801485-71801487, 71825694-71825695, 71825738-71825749, 71825775-71825789, 71825813-71825867, 71827873-71827955, 71828629-71828636, 71829906-71829935, 71838381-71838388, 71838406-71838449, 71838467-71838476, 71838656-71838661, 71838688-71838701, 71838711, 71839771-71839793, 71839799-71839840, 71839864-71839892, 71839899-71839922, 71839933, 71840467-71840475, 71840507-71840540, 71847677-71847715, 71847731, 71847735-71847739 |
| 413 | SPR | 2 | 0.99745547073791 | 2 | 786 | 73114612-73114613 |
| 414 | ALMS1 | 2 | 0.99984005118362 | 2 | 12504 | 73827999, 73828342 |
| 415 | MOGS | 2 | 0.98568019093079 | 36 | 2514 | 74691734, 74692290-74692297, 74692344-74692370 |
| 416 | HTRA2 | 2 | 0.99564270152505 | 6 | 1377 | 74757248-74757253 |
| 417 | SUCLG1 | 2 | 0.99327569644573 | 7 | 1041 | 84686329-84686335 |
| 418 | REEP1 | 2 | 0.97359735973597 | 16 | 606 | 86564618-86564633 |
| 419 | EIF2AK3 | 2 | 0.99433005073113 | 19 | 3351 | 88926609, 88926641, 88926650-88926654, 88926668-88926672, 88926691, 88926730-88926735 |
| 420 | TMEM127 | 2 | 0.88563458856346 | 82 | 717 | 96930884-96930885, 96930966-96930985, 96930995-96931019, 96931037-96931051, 96931079-96931098 |
| 421 | ZAP70 | 2 | 0.99838709677419 | 3 | 1860 | 98340878-98340880 |
| 422 | RANBP2 | 2 | 0.95297157622739 | 455 | 9675 | 109336118-109336134, 109345588-109345589, 109352023-109352029, 109352698-109352705, 109356950-109356956, 109357110-109357126, 109363251-109363254, 109368074-109368111, 109368334-109368374, 109370398, 109371385-109371402, 109371495-109371512, 109371531-109371540, 109371656-109371662, 109374869-109374875, 109378557-109378565, 109382676-109382706, 109382787-109382819, 109383195-109383210, 109383253-109383274, 109383295-109383321, 109383354-109383360, 109383672-109383682, 109383768-109383798, 109383888, 109384145-109384170, 109384597-109384635 |
| 423 | MERTK | 2 | 0.99766666666667 | 7 | 3000 | 112656325-112656330, 112656341 |
| 424 | GLI2 | 2 | 0.9640831758034 | 171 | 4761 | 121708819-121708828, 121708993-121709010, 121728161, 121745890-121745897, 121746056-121746063, 121746077, 121746096, 121746133-121746143, 121746167, 121746258-121746264, 121746305-121746327, 121746487-121746505, 121746511-121746542, 121746566-121746578, 121746599-121746600, 121746603, 121746676-121746682, 121747014, 121747734-121747740 |
| 425 | BIN1 | 2 | 0.98484848484848 | 27 | 1782 | 127806102-127806110, 127808010-127808021, 127816632, 127864515-127864519 |
| 426 | PROC | 2 | 0.96176046176046 | 53 | 1386 | 128178941, 128180503-128180509, 128180621-128180632, 128180647, 128180654-128180655, 128180658-128180660, 128180664-128180667, 128180675, 128180678-128180679, 128180695-128180714 |
| 427 | CFC1 | 2 | 0.91369047619048 | 58 | 672 | 131280371-131280383, 131280387-131280389, 131280441-131280443, 131280448-131280451, 131280455, 131280780, 131280785, 131280800, 131280823-131280851, 131285315, 131285321 |
| 428 | LCT | 2 | 0.9987897648686 | 7 | 5784 | 136558249-136558252, 136558256, 136566229-136566230 |
| 429 | ZEB2 | 2 | 0.99368998628258 | 23 | 3645 | 145187406-145187428 |
| 430 | CACNB4 | 2 | 0.98784388995521 | 19 | 1563 | 152728989-152729007 |
| 431 | SCN2A | 2 | 0.99783981389166 | 13 | 6018 | 166171998-166172005, 166201182, 166231388, 166237630-166237632 |
| 432 | SCN1A | 2 | 0.99849924962481 | 9 | 5997 | 166908301-166908307, 166908450-166908451 |
| 433 | SCN9A | 2 | 0.99814627569936 | 11 | 5934 | 167055956, 167056279-167056280, 167060599, 167060656-167060657, 167060930-167060934 |
| 434 | HOXD13 | 2 | 0.98158914728682 | 19 | 1032 | 176957619-176957623, 176957669-176957675, 176957713-176957719 |
| 435 | AGPS | 2 | 0.99443601416287 | 11 | 1977 | 178257587-178257597 |
| 436 | PRKRA | 2 | 0.96709129511677 | 31 | 942 | 179315705-179315735 |
| 437 | DFNB59 | 2 | 0.9971671388102 | 3 | 1059 | 179319061-179319063 |
| 438 | TTN | 2 | 0.9999800494773 | 2 | 100248 | 179576765, 179580244 |
| 439 | CERKL | 2 | 0.99124452782989 | 14 | 1599 | 182468646-182468654, 182468688, 182468701-182468704 |
| 440 | HSPD1 | 2 | 0.99767711962834 | 4 | 1722 | 198361933-198361936 |
| 441 | CASP8 | 2 | 0.99938157081014 | 1 | 1617 | 202149668 |
| 442 | BMPR2 | 2 | 0.99647096567212 | 11 | 3117 | 203242250, 203378465-203378474 |
| 443 | FASTKD2 | 2 | 0.9943741209564 | 12 | 2133 | 207631632-207631643 |
| 444 | ACADL | 2 | 0.9907192575406 | 12 | 1293 | 211089932-211089943 |
| 445 | PNKD | 2 | 0.82469775474957 | 203 | 1158 | 219204506-219204524, 219204536-219204558, 219204593-219204598, 219204758-219204775, 219204782, 219204787, 219204796-219204845, 219204856, 219205468-219205494, 219206280-219206286, 219206321-219206349, 219206704-219206707, 219209267-219209278, 219209565, 219209570-219209572, 219209661 |
| 446 | OBSL1 | 2 | 0.94921806360921 | 289 | 5691 | 220416834-220416836, 220416848, 220416931-220416938, 220417350-220417391, 220417632, 220417659-220417662, 220420948, 220427395, 220435374-220435379, 220435560-220435563, 220435572-220435585, 220435634-220435664, 220435673-220435718, 220435733-220435774, 220435800-220435819, 220435861-220435880, 220435893-220435905, 220435908, 220435918-220435925, 220435932-220435954 |
| 447 | COL4A3 | 2 | 0.99541192898464 | 23 | 5013 | 228029454-228029460, 228029473-228029487, 228029498 |
| 448 | CHRND | 2 | 0.96010296010296 | 62 | 1554 | 233390943, 233390955-233390975, 233391239-233391242, 233393337, 233394698, 233394701-233394702, 233394800-233394815, 233396103-233396104, 233396264-233396270, 233398641-233398645, 233398770, 233398806 |
| 449 | AGXT | 2 | 0.81594571670908 | 217 | 1179 | 241808286-241808295, 241808305, 241808308, 241808333, 241808396-241808431, 241808617-241808628, 241808687-241808691, 241808716-241808737, 241810061-241810063, 241810095-241810123, 241810766-241810794, 241810858-241810866, 241814608-241814621, 241816963-241817005, 241817537-241817538 |
| 450 | D2HGDH | 2 | 0.81034482758621 | 297 | 1566 | 242674640-242674656, 242674664-242674694, 242674786, 242674790, 242674803, 242680464, 242680467-242680469, 242689593-242689601, 242689624-242689709, 242690778-242690783, 242695297-242695313, 242695399-242695425, 242707128-242707130, 242707137, 242707140, 242707202-242707215, 242707249-242707259, 242707262-242707263, 242707266-242707274, 242707305-242707341, 242707366-242707384 |
| 451 | AVP | 20 | 0.77979797979798 | 109 | 495 | 3063332-3063359, 3063362, 3063389-3063401, 3063429-3063446, 3063635-3063667, 3063764-3063779 |
| 452 | PANK2 | 20 | 0.98482194979568 | 26 | 1713 | 3869905, 3869993-3869994, 3870105-3870107, 3870124, 3870243-3870259, 3870264, 3870292 |
| 453 | PRNP | 20 | 0.99081364829396 | 7 | 762 | 4679996-4680002 |
| 454 | JAG1 | 20 | 0.99507793273175 | 18 | 3657 | 10653474-10653477, 10653620-10653625, 10654152-10654157, 10654177-10654178 |
| 455 | THBD | 20 | 0.98206018518519 | 31 | 1728 | 23029321-23029325, 23029521-23029523, 23029570-23029589, 23029694, 23029972-23029973 |
| 456 | SNTA1 | 20 | 0.82213438735178 | 270 | 1518 | 32000186-32000187, 32000223-32000226, 32000229, 32000381-32000403, 32000425-32000426, 32000440-32000454, 32000460, 32000506, 32031117-32031143, 32031153-32031183, 32031188, 32031203-32031236, 32031256-32031282, 32031312, 32031321-32031362, 32031369-32031426 |
| 457 | SAMHD1 | 20 | 0.99468367889421 | 10 | 1881 | 35545392, 35545395-35545399, 35547877, 35547880-35547881, 35547886 |
| 458 | HNF4A | 20 | 0.99508771929825 | 7 | 1425 | 43052773-43052775, 43052787-43052788, 43052791-43052792 |
| 459 | ADA | 20 | 0.98168498168498 | 20 | 1092 | 43257758, 43257764-43257776, 43280242-43280247 |
| 460 | CTSA | 20 | 0.97728790915164 | 34 | 1497 | 44520234-44520267 |
| 461 | CD40 | 20 | 0.99640287769784 | 3 | 834 | 44756969-44756970, 44757586 |
| 462 | GNAS | 20 | 0.79945799457995 | 148 | 738 | 57415172-57415179, 57415190-57415213, 57415310-57415358, 57415466-57415488, 57415581-57415598, 57415668-57415679, 57415818, 57415864-57415876 |
| 463 | GNAS | 20 | 0.93256262042389 | 210 | 3114 | 57428853-57428858, 57429051-57429055, 57429350-57429365, 57429423, 57429426-57429445, 57429448-57429456, 57429469-57429500, 57429608-57429628, 57429634-57429654, 57429674-57429708, 57429732-57429752, 57429944-57429946, 57430023-57430031, 57430034, 57430098-57430106, 57430388 |
| 464 | COL9A3 | 20 | 0.86666666666667 | 274 | 2055 | 61448417-61448465, 61448469-61448494, 61448924-61448930, 61448934-61448940, 61448947, 61448952-61448954, 61448962-61448987, 61453156, 61453161-61453162, 61453973-61453984, 61455817-61455823, 61455842-61455853, 61456333-61456339, 61456351-61456373, 61457218-61457222, 61457594-61457597, 61457609, 61458154-61458172, 61460130-61460141, 61460986-61460996, 61461118, 61461869-61461874, 61461895-61461917, 61463514, 61467539, 61468608-61468614 |
| 465 | CHRNA4 | 20 | 0.067940552016985 | 1756 | 1884 | 61978090-61978215, 61981005-61981167, 61981173-61981658, 61981671-61981747, 61981760-61981808, 61981831-61981879, 61981901-61982033, 61982037-61982038, 61982041-61982043, 61982055-61982182, 61982193, 61982224-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517 |
| 466 | KCNQ2 | 20 | 0.38449789996182 | 1612 | 2619 | 62037997-62038036, 62038057-62038087, 62038113-62038202, 62038228-62038253, 62038266-62038289, 62038321-62038396, 62038413-62038425, 62038430, 62038464-62038548, 62038565-62038603, 62038616-62038619, 62038629-62038635, 62038669-62038728, 62039766-62039818, 62039836-62039871, 62044902-62044903, 62046270-62046281, 62046311-62046343, 62046413, 62046416-62046417, 62046422, 62059720-62059759, 62059769-62059788, 62062693-62062702, 62065180-62065242, 62069998-62070043, 62070066, 62070955-62070969, 62071007-62071030, 62071033-62071047, 62073759-62073817, 62073827-62073872, 62073882-62073884, 62076012-62076113, 62076129-62076150, 62076170-62076187, 62076591-62076717, 62078100-62078161, 62078179, 62078182-62078187, 62103521-62103816 |
| 467 | SOX18 | 20 | 0.16883116883117 | 960 | 1155 | 62679519-62679560, 62679579, 62679589-62679593, 62679605, 62679633-62679642, 62679645-62679647, 62679682-62679698, 62679715-62679765, 62679777-62679815, 62679825-62679876, 62679907-62680025, 62680042-62680216, 62680229-62680315, 62680512-62680869 |
| 468 | IFNGR2 | 21 | 0.90631163708087 | 95 | 1014 | 34775850-34775922, 34793837-34793843, 34793924-34793932, 34799308-34799313 |
| 469 | RCAN1 | 21 | 0.90777338603426 | 70 | 759 | 35987059-35987079, 35987176, 35987180, 35987183-35987221, 35987275-35987282 |
| 470 | RUNX1 | 21 | 0.98544698544699 | 21 | 1443 | 36164432-36164441, 36164457, 36164610-36164614, 36259303-36259306, 36259349 |
| 471 | CLDN14 | 21 | 0.98472222222222 | 11 | 720 | 37833306-37833308, 37833535-37833541, 37833714 |
| 472 | TMPRSS3 | 21 | 0.9992673992674 | 1 | 1365 | 43805637 |
| 473 | CBS | 21 | 0.98611111111111 | 23 | 1656 | 44476928-44476930, 44476967, 44479045-44479047, 44479055, 44479070-44479075, 44479363-44479369, 44480569, 44480613 |
| 474 | AIRE | 21 | 0.32539682539683 | 1105 | 1638 | 45705890-45705924, 45705938, 45705941-45705984, 45705993-45705996, 45706440-45706461, 45706469-45706472, 45706477-45706524, 45706533, 45706546-45706593, 45706610-45706614, 45706867-45706901, 45706916-45706966, 45706973-45706975, 45706977-45706991, 45706997-45707016, 45707400-45707410, 45707436-45707438, 45707443, 45707446-45707454, 45707460-45707474, 45708228-45708266, 45708277, 45708336-45708341, 45709540-45709549, 45709568, 45709623-45709646, 45709659-45709661, 45709668-45709685, 45709891-45709912, 45709927, 45709930-45709951, 45710978-45710979, 45710992-45711042, 45711065-45711093, 45712185-45712241, 45712256-45712274, 45712280-45712284, 45712876-45712910, 45712926-45712962, 45712977, 45712983-45712996, 45713006-45713058, 45713718-45713793, 45714284-45714386, 45716266-45716328, 45717543-45717568, 45717594, 45717598-45717608 |
| 475 | ITGB2 | 21 | 0.87705627705628 | 284 | 2310 | 46306761, 46306781, 46308608-46308615, 46308656-46308709, 46308734-46308756, 46308799-46308810, 46309191-46309199, 46309246-46309249, 46309275-46309285, 46309319-46309325, 46309345-46309351, 46309394-46309410, 46309904-46309917, 46309943-46309960, 46310001-46310002, 46310029-46310055, 46311739-46311786, 46311801-46311807, 46311813, 46311817-46311818, 46311825, 46313381-46313389, 46330270 |
| 476 | COL18A1 | 21 | 0.30598290598291 | 3654 | 5265 | 46875445-46875528, 46875554, 46875557, 46875591-46875618, 46875651-46875677, 46875699-46875722, 46875771-46875784, 46875796-46875839, 46875857-46875858, 46875900, 46875919-46875959, 46875981-46875983, 46875999, 46876022-46876087, 46876105, 46876109-46876110, 46876118-46876156, 46876165-46876258, 46876263, 46876274, 46876278-46876281, 46876289, 46876305-46876353, 46876374-46876446, 46876449-46876516, 46876526-46876527, 46876542-46876795, 46888156-46888166, 46888174-46888286, 46888322-46888343, 46888347, 46888384-46888420, 46888514-46888542, 46888583-46888607, 46888631-46888637, 46888643-46888645, 46888664-46888665, 46893857-46893895, 46895390-46895391, 46895409, 46895434, 46896272-46896276, 46896294, 46896302-46896341, 46896346, 46896358-46896362, 46896368, 46896387-46896394, 46897781-46897793, 46897800, 46897875, 46899984, 46900003, 46900017-46900022, 46900049-46900051, 46900059-46900064, 46900407-46900429, 46900626-46900647, 46900657-46900666, 46900673-46900677, 46900699-46900734, 46900769, 46900772, 46901902, 46906775-46906896, 46906905-46906906, 46907361-46907382, 46907391-46907423, 46908332-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929270-46929401, 46929417-46929515, 46929978-46930149, 46930171-46930175, 46931025-46931140, 46932109, 46932117-46932125, 46932136-46932312 |
| 477 | COL6A1 | 21 | 0.47554259799158 | 1619 | 3087 | 47401765-47401861, 47402548-47402596, 47402605-47402677, 47404183-47404342, 47404350-47404383, 47406440-47406599, 47406858-47406907, 47406912-47406931, 47406933-47406986, 47407069-47407077, 47407413-47407433, 47407524-47407568, 47409000-47409035, 47409522-47409541, 47409556-47409566, 47409666-47409667, 47409689-47409692, 47410172-47410198, 47410292-47410336, 47410731, 47410917-47410918, 47410927-47410955, 47411924-47411929, 47411954, 47411978-47411986, 47412099-47412112, 47412277-47412312, 47412662-47412670, 47414081-47414092, 47414127-47414137, 47417335-47417367, 47417378, 47417389-47417397, 47417614-47417615, 47417621-47417627, 47417641-47417676, 47418064-47418085, 47418312-47418331, 47418846-47418851, 47418855, 47418861-47418873, 47419067-47419075, 47419083-47419099, 47419123-47419132, 47419571-47419606, 47420255, 47420673-47420675, 47421167-47421172, 47421210-47421221, 47421274, 47421281, 47421284, 47421289-47421300, 47421920-47421933, 47422132-47422139, 47422144, 47422172-47422203, 47422215-47422226, 47422235-47422244, 47422294, 47422298-47422299, 47422530-47422555, 47423052, 47423380-47423401, 47423421-47423442, 47423488-47423550, 47423642-47423656, 47423659-47423663, 47423700-47423743, 47423764-47423765, 47423826, 47423830-47423839, 47423858-47423863, 47423888-47423895, 47423898, 47423902, 47423905-47423907, 47423914-47423916 |
| 478 | COL6A2 | 21 | 0.43039215686275 | 1743 | 3060 | 47531391-47531402, 47531432-47531464, 47531476-47531502, 47531904-47531948, 47531965-47532000, 47532006-47532007, 47532019-47532066, 47532079, 47532084-47532088, 47532192, 47532253, 47532256-47532258, 47532280, 47532288-47532331, 47532339-47532342, 47532345-47532346, 47532349-47532351, 47532378-47532402, 47532437-47532444, 47535818, 47535936, 47535950-47535955, 47536291-47536298, 47536569-47536591, 47536684-47536687, 47536705-47536709, 47537314-47537341, 47537360-47537366, 47537795, 47537798, 47537809-47537838, 47538528-47538587, 47538944-47538956, 47538995-47539013, 47539019-47539033, 47539702-47539764, 47540429-47540431, 47540439-47540454, 47540975-47540984, 47540995-47541037, 47541470-47541524, 47542022-47542068, 47542410-47542445, 47542789-47542805, 47542826-47542851, 47544592-47544594, 47544599-47544602, 47544614, 47544799-47544806, 47545180-47545200, 47545400-47545406, 47545431, 47545438-47545440, 47545445-47545449, 47545460, 47545504, 47545520, 47545714-47545738, 47545746-47545785, 47545822-47545823, 47545846-47545884, 47545902-47545941, 47545944-47545945, 47545957-47546052, 47546063-47546146, 47546446-47546449, 47551868-47551892, 47551899-47552125, 47552151, 47552160-47552391, 47552400-47552403, 47552409-47552411, 47552434-47552439, 47552449-47552466 |
| 479 | COL6A2 | 21 | 0.12865497076023 | 298 | 342 | 47552183-47552391, 47552400-47552403, 47552409-47552411, 47552434-47552439, 47552449-47552524 |
| 480 | FTCD | 21 | 0.055965559655597 | 1535 | 1626 | 47556901-47556987, 47557157-47557185, 47557191-47557213, 47557236-47557248, 47558422-47558440, 47558455-47558533, 47558552-47558560, 47558822-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437 |
| 481 | PCNT | 21 | 0.92827889321746 | 718 | 10011 | 47744185-47744186, 47786607-47786612, 47787046-47787054, 47808686, 47818012-47818017, 47831108-47831116, 47831236-47831242, 47831302, 47831344, 47831350-47831371, 47831422-47831474, 47831614-47831619, 47831661, 47831665, 47831698-47831699, 47831702-47831708, 47831719-47831720, 47831724, 47831752-47831756, 47831923-47831928, 47832843, 47836174-47836181, 47836419-47836466, 47836520, 47836564-47836575, 47836649-47836698, 47836704-47836753, 47838139-47838140, 47838148, 47838192, 47841906-47841910, 47841943-47841966, 47841973-47841985, 47842011, 47842016-47842022, 47845752-47845775, 47845839, 47845855-47845864, 47847583-47847611, 47847627, 47847630, 47847633-47847636, 47847641-47847648, 47847684-47847709, 47848338-47848372, 47848395-47848401, 47848440-47848459, 47848488-47848504, 47849933-47849937, 47849979-47849996, 47850026-47850066, 47850116-47850129, 47850504-47850547, 47851594-47851597, 47851741, 47851753, 47851865-47851868, 47851951-47851957, 47852045-47852057, 47852092, 47855876, 47855939-47855945, 47855988-47855989 |
| 482 | PRODH | 22 | 0.73488630061009 | 478 | 1803 | 18900690-18900694, 18900753-18900761, 18900787-18900789, 18900792-18900799, 18900817, 18900829-18900830, 18900868, 18901004, 18901018-18901019, 18901028, 18904410, 18905934-18905937, 18905982, 18907082-18907107, 18907219-18907259, 18908861-18908892, 18910330, 18910361-18910367, 18910408-18910419, 18910639, 18910681-18910692, 18912574, 18912616, 18913201-18913226, 18918535-18918569, 18918695-18918704, 18923528-18923682, 18923706-18923709, 18923721-18923795 |
| 483 | GP1BB | 22 | 0 | 621 | 621 | 19711093-19711102, 19711377-19711987 |
| 484 | TBX1 | 22 | 0.42002688172043 | 863 | 1488 | 19747178-19747200, 19748428-19748681, 19748692-19748740, 19748787, 19748790, 19748795-19748803, 19751679, 19753286-19753323, 19753337-19753348, 19753425-19753479, 19753486-19753525, 19753912-19754051, 19754060-19754084, 19754095-19754140, 19754182-19754258, 19754266, 19754284-19754331, 19754348-19754390 |
| 485 | SMARCB1 | 22 | 0.99222797927461 | 9 | 1158 | 24145608, 24175768, 24175826-24175831, 24175887 |
| 486 | HPS4 | 22 | 0.99857954545455 | 3 | 2112 | 26860003-26860004, 26860488 |
| 487 | CHEK2 | 22 | 0.95911413969336 | 72 | 1761 | 29083889-29083916, 29083946-29083965, 29085165-29085171, 29126408, 29126415-29126425, 29126488-29126491, 29126536 |
| 488 | NF2 | 22 | 0.98937360178971 | 19 | 1788 | 29999988-29999992, 30000020-30000033 |
| 489 | DRG1 | 22 | 0.96286231884058 | 41 | 1104 | 31796632-31796650, 31796677-31796698 |
| 490 | MYH9 | 22 | 0.99830018697943 | 10 | 5883 | 36688113-36688120, 36697078, 36702055 |
| 491 | TRIOBP | 22 | 0.81868131868132 | 1287 | 7098 | 38109268-38109273, 38111888-38111889, 38111894-38111906, 38119829-38119835, 38119879-38119905, 38119976-38119982, 38120031-38120068, 38120123-38120129, 38120297-38120345, 38120552, 38120555, 38120559-38120566, 38120569, 38120573, 38120794-38120800, 38120935-38120941, 38121609-38121615, 38121735-38121747, 38121780-38121784, 38121833-38121834, 38121859-38121893, 38121949, 38121973-38122035, 38122073, 38122115-38122116, 38122120-38122136, 38122250, 38122253-38122255, 38122258-38122259, 38122262-38122263, 38122266-38122268, 38122297-38122343, 38122409-38122419, 38122446-38122486, 38122500-38122507, 38122510, 38129310-38129356, 38129386-38129419, 38130412-38130440, 38130456-38130462, 38130475-38130490, 38130533-38130558, 38130600-38130619, 38130672-38130708, 38130754-38130822, 38130834-38130850, 38130889-38130968, 38130978-38131019, 38131031-38131049, 38131074-38131076, 38131079-38131104, 38131107-38131109, 38131156-38131203, 38131222-38131256, 38131282-38131330, 38131348-38131368, 38131398-38131449, 38134713-38134716, 38134724, 38136933-38136951, 38147779-38147790, 38147815-38147824, 38153620, 38153835, 38153910-38153912, 38153918-38153930, 38153966, 38154126, 38154137-38154143, 38155178-38155192, 38161700, 38161746-38161748, 38161786-38161805, 38164168, 38165105-38165113, 38165118, 38165161-38165184, 38165187, 38165282, 38165287-38165288, 38165352-38165360 |
| 492 | SOX10 | 22 | 0.91149179157744 | 124 | 1401 | 38379368-38379378, 38379404, 38379466-38379471, 38379507-38379509, 38379514-38379531, 38379540-38379545, 38379555-38379581, 38379637-38379667, 38379700-38379715, 38379734, 38379779-38379782 |
| 493 | PLA2G6 | 22 | 0.10633946830266 | 437 | 489 | 38508274-38508312, 38508511-38508584, 38509494-38509590, 38509604-38509694, 38509704-38509708, 38509739-38509869 |
| 494 | PLA2G6 | 22 | 0.60264353572904 | 962 | 2421 | 38508168-38508312, 38508511-38508584, 38509494-38509590, 38509604-38509661, 38511534-38511688, 38512082-38512160, 38512180, 38512183-38512218, 38516766-38516782, 38516804-38516806, 38516829-38516841, 38516877-38516891, 38516902-38516916, 38519102-38519121, 38519135, 38519158-38519225, 38519248-38519265, 38522378-38522380, 38522389-38522392, 38524393-38524437, 38525520, 38525551-38525569, 38528900-38528925, 38528999-38529020, 38531007-38531008, 38531071-38531076, 38536082-38536100 |
| 495 | ADSL | 22 | 0.99931271477663 | 1 | 1455 | 40757546 |
| 496 | EP300 | 22 | 0.99986197377502 | 1 | 7245 | 41566525 |
| 497 | TNFRSF13C | 22 | 0.27567567567568 | 402 | 555 | 42321455-42321497, 42321522-42321524, 42322105-42322335, 42322642-42322709, 42322721-42322777 |
| 498 | CYB5R3 | 22 | 0.96136865342163 | 35 | 906 | 43026902-43026904, 43026980-43026990, 43045301-43045321 |
| 499 | ATXN10 | 22 | 0.99089635854342 | 13 | 1428 | 46067944-46067956 |
| 500 | TRMU | 22 | 0.86255924170616 | 174 | 1266 | 46731662-46731670, 46731693-46731737, 46746327, 46751372-46751400, 46751445-46751451, 46751905-46751915, 46752740-46752788, 46752810-46752812, 46752838-46752842, 46752889-46752903 |
| 501 | ALG12 | 22 | 0.82344921608725 | 259 | 1467 | 50301538-50301587, 50303584-50303643, 50303674-50303680, 50303686-50303725, 50303735-50303736, 50304157-50304175, 50304212, 50307112, 50307116, 50307123-50307127, 50307134, 50307137, 50307252-50307256, 50307264-50307289, 50307312-50307321, 50307355-50307384 |
| 502 | MLC1 | 22 | 0.65079365079365 | 396 | 1134 | 50500012-50500017, 50500022-50500023, 50500043-50500054, 50502463-50502627, 50506894-50506943, 50506969, 50506984, 50508956-50508958, 50508981-50509012, 50512645-50512679, 50512702-50512711, 50512714-50512760, 50515270, 50515323, 50515326, 50515868-50515869, 50515891-50515917 |
| 503 | SCO2 | 22 | 0.72659176029963 | 219 | 801 | 50962106-50962115, 50962121-50962122, 50962126-50962128, 50962138-50962145, 50962275, 50962320-50962337, 50962412-50962415, 50962420-50962428, 50962431, 50962440-50962450, 50962457, 50962462, 50962477, 50962509-50962528, 50962549, 50962575-50962604, 50962607-50962608, 50962615, 50962651-50962668, 50962677-50962695, 50962706, 50962713-50962718, 50962725-50962728, 50962740-50962779, 50962814-50962819, 50962831 |
| 504 | TYMP | 22 | 0.30572808833678 | 1006 | 1449 | 50964199-50964347, 50964430-50964570, 50964675-50964905, 50965005-50965167, 50965598-50965605, 50965634-50965637, 50965644-50965652, 50965681-50965689, 50965696-50965699, 50965712, 50966022-50966061, 50967599, 50967620, 50967637-50967693, 50967718-50967736, 50967751-50967752, 50967761-50967767, 50967933-50967976, 50967984-50968066, 50968089, 50968107-50968138 |
| 505 | ARSA | 22 | 0.82874015748031 | 261 | 1524 | 51063573-51063576, 51063633-51063680, 51063693-51063726, 51063761-51063785, 51063823-51063837, 51063868-51063885, 51064372, 51064425, 51064427-51064448, 51064641-51064642, 51065019-51065032, 51065038-51065040, 51065264-51065306, 51065460-51065480, 51065984-51065991, 51066150-51066151 |
| 506 | SHANK3 | 22 | 0.32704042715484 | 3529 | 5244 | 51113070-51113132, 51113476-51113679, 51115050-51115121, 51117013-51117121, 51117217-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133203-51133476, 51135671-51135719, 51135951-51136143, 51137118-51137145, 51137168-51137215, 51137225-51137231, 51142288-51142289, 51142321-51142350, 51143184-51143255, 51143276-51143290, 51143406-51143412, 51143421, 51143439-51143442, 51143486-51143524, 51144500-51144506, 51144530-51144531, 51144560-51144577, 51158612-51158647, 51158674-51158688, 51158696-51158935, 51158952-51158985, 51159022-51159026, 51159029-51159079, 51159099-51159115, 51159132-51159192, 51159202-51159213, 51159247-51159337, 51159350-51159423, 51159434, 51159457-51159488, 51159498-51159519, 51159523, 51159567-51159584, 51159603-51159608, 51159612-51159613, 51159630-51159638, 51159647, 51159662-51159758, 51159903-51159957, 51159968-51160016, 51160025-51160071, 51160139-51160143, 51160173-51160220, 51160287-51160360, 51160367-51160393, 51160412, 51160425-51160428, 51160529-51160573, 51160590-51160599, 51160620, 51160625-51160631, 51160641-51160653, 51160659-51160678, 51160689, 51160772-51160793, 51160822, 51169149-51169158, 51169182-51169199, 51169204-51169215, 51169226-51169228, 51169243-51169272, 51169282-51169336, 51169349-51169390, 51169402-51169620, 51169631, 51169635, 51169652-51169721, 51169734-51169740 |
| 507 | FANCD2 | 3 | 0.96784420289855 | 142 | 4416 | 10085536, 10088396-10088405, 10091150-10091156, 10119774-10119780, 10130146, 10130534, 10130609-10130620, 10132044-10132066, 10133873-10133906, 10134972, 10135974-10135976, 10138102-10138112, 10140411-10140417, 10140459-10140460, 10140517-10140538 |
| 508 | VHL | 3 | 0.75233644859813 | 159 | 642 | 10183593-10183636, 10183655-10183658, 10183663, 10183678-10183748, 10183759-10183767, 10183790-10183819 |
| 509 | RAF1 | 3 | 0.9994863893169 | 1 | 1947 | 12647780 |
| 510 | GLB1 | 3 | 0.99655850540806 | 7 | 2034 | 33099749-33099754, 33114097 |
| 511 | CRTAP | 3 | 0.96434494195688 | 43 | 1206 | 33155585, 33155868-33155909 |
| 512 | SCN5A | 3 | 0.99558498896247 | 26 | 5889 | 38616798-38616822, 38616829 |
| 513 | TMIE | 3 | 0.6797385620915 | 147 | 459 | 46742864, 46742867-46742893, 46742896, 46742915-46742941, 46742950-46742990, 46743010-46743015, 46743020-46743047, 46747295, 46747302, 46747311-46747323, 46747328 |
| 514 | TMIE | 3 | 0.85350318471338 | 69 | 471 | 46742978-46742990, 46743010-46743015, 46743020-46743047, 46747295, 46747302, 46747311-46747323, 46747328, 46751074-46751079 |
| 515 | TREX1 | 3 | 0.81351351351351 | 207 | 1110 | 48507891-48507892, 48507904, 48507956-48507960, 48508030-48508045, 48508054, 48508058, 48508096-48508102, 48508116-48508120, 48508158-48508167, 48508231-48508248, 48508285-48508332, 48508392-48508401, 48508412, 48508426, 48508428, 48508436-48508441, 48508570, 48508574, 48508610-48508641, 48508671-48508676, 48508681-48508696, 48508865-48508869, 48508874-48508880, 48508931, 48508970-48508973, 48508980 |
| 516 | COL7A1 | 3 | 0.89530277306169 | 925 | 8835 | 48602598-48602601, 48607067, 48607072, 48607604-48607611, 48608555, 48609836-48609849, 48610115-48610116, 48610367-48610373, 48612661-48612672, 48612776, 48612953-48612959, 48613084-48613111, 48613155, 48613158, 48613718-48613729, 48613970, 48614123-48614134, 48615797-48615798, 48615910-48615927, 48616352-48616354, 48616378, 48616382, 48616385, 48616645, 48616944, 48617039-48617043, 48617058-48617059, 48617063, 48617095-48617097, 48617219, 48617476-48617490, 48617769-48617770, 48618017, 48618703-48618721, 48618771-48618773, 48618901, 48619172, 48619175-48619177, 48619784-48619791, 48619935, 48620056-48620086, 48620843-48620850, 48621047-48621048, 48621212-48621213, 48621343-48621352, 48621379-48621386, 48621485-48621494, 48621756, 48621977-48621978, 48622343-48622347, 48622542-48622544, 48623159, 48623263-48623288, 48623380-48623393, 48623509, 48623530, 48623568-48623569, 48623608-48623648, 48623664-48623670, 48623823-48623862, 48623890, 48623893, 48623896-48623900, 48623909, 48624100-48624106, 48624442, 48624454-48624455, 48624507-48624508, 48624511, 48624688-48624707, 48624856-48624858, 48624939-48624984, 48625243-48625255, 48625266, 48625274-48625279, 48625282-48625287, 48625305-48625311, 48625316, 48625319-48625327, 48625356-48625372, 48625773-48625830, 48626075-48626139, 48626175-48626187, 48626210-48626221, 48626315, 48626367-48626369, 48626372-48626396, 48626406, 48626760-48626769, 48626792, 48626795, 48626855-48626901, 48627032-48627037, 48627044-48627075, 48627100-48627140, 48627145-48627146, 48627710, 48627903-48627907, 48628204, 48628214, 48629630, 48629660-48629681, 48630237, 48630355-48630357 |
| 517 | SLC25A20 | 3 | 0.92494481236203 | 68 | 906 | 48897008-48897010, 48897014, 48897036-48897042, 48921461-48921466, 48936142-48936146, 48936164-48936199, 48936218-48936227 |
| 518 | LAMB2 | 3 | 0.97998888271262 | 108 | 5397 | 49159002, 49160287-49160290, 49160368, 49160986-49160987, 49161183-49161223, 49161995-49162009, 49162036-49162045, 49162268, 49162468-49162483, 49162689, 49162846, 49162889-49162892, 49167766-49167768, 49168239, 49169116, 49169129, 49169139-49169142, 49169931 |
| 519 | AMT | 3 | 0.94471947194719 | 67 | 1212 | 49456540, 49456722, 49456834-49456838, 49457767-49457773, 49459553-49459580, 49459612-49459613, 49459654, 49459657-49459664, 49459794-49459807 |
| 520 | GNAT1 | 3 | 0.91168091168091 | 93 | 1053 | 50230797-50230803, 50230994-50231018, 50231088-50231096, 50231290-50231296, 50231528-50231555, 50232083-50232087, 50232331-50232342 |
| 521 | HYAL1 | 3 | 0.83333333333333 | 218 | 1308 | 50337968-50337980, 50338048-50338057, 50338115-50338146, 50338205-50338220, 50338436-50338470, 50338480-50338508, 50339515-50339534, 50339639-50339668, 50339672, 50339818-50339825, 50339828, 50339832-50339835, 50339846, 50339878, 50339974-50339977, 50340034, 50340159-50340161, 50340253-50340256, 50340259-50340263 |
| 522 | TNNC1 | 3 | 0.98971193415638 | 5 | 486 | 52486525-52486529 |
| 523 | RFT1 | 3 | 0.98892988929889 | 18 | 1626 | 53156410-53156419, 53156460, 53156463-53156467, 53156499-53156500 |
| 524 | TKT | 3 | 0.87713675213675 | 230 | 1872 | 53259937-53259940, 53260772-53260776, 53262084-53262085, 53262122-53262125, 53262147-53262148, 53263137-53263153, 53263394-53263441, 53264482-53264492, 53264499, 53264516, 53264583-53264627, 53265394, 53267176-53267178, 53267236-53267237, 53269014-53269043, 53269163, 53269181-53269182, 53275224-53275233, 53289852-53289867, 53289934-53289958 |
| 525 | HESX1 | 3 | 0.99820788530466 | 1 | 558 | 57233875 |
| 526 | FLNB | 3 | 0.99948777052119 | 4 | 7809 | 57994450-57994452, 57994539 |
| 527 | ATXN7 | 3 | 0.8907681465821 | 310 | 2838 | 63898278-63898587 |
| 528 | PROK2 | 3 | 0.95128205128205 | 19 | 390 | 71834143-71834161 |
| 529 | ROBO2 | 3 | 0.99709934735315 | 12 | 4137 | 77607168-77607177, 77607203, 77607206 |
| 530 | PROS1 | 3 | 0.99261447562777 | 15 | 2031 | 93595903-93595908, 93596023, 93596026, 93617388-93617394 |
| 531 | ARL13B | 3 | 0.93162393162393 | 88 | 1287 | 93761899-93761946, 93761982-93761983, 93761986-93761987, 93762028-93762038, 93762041-93762065 |
| 532 | CPOX | 3 | 0.86300366300366 | 187 | 1365 | 98304298-98304302, 98304431, 98304488-98304496, 98311881-98311882, 98311888-98311890, 98311916, 98312006-98312009, 98312102-98312105, 98312118-98312192, 98312199-98312235, 98312286-98312328, 98312346-98312348 |
| 533 | IQCB1 | 3 | 0.97996661101836 | 36 | 1797 | 121526202-121526222, 121526265, 121526278-121526290, 121527853 |
| 534 | UMPS | 3 | 0.99099099099099 | 13 | 1443 | 124456513-124456519, 124456654, 124456876-124456880 |
| 535 | NPHP3 | 3 | 0.97520661157025 | 99 | 3993 | 132438556-132438572, 132438617-132438643, 132441003, 132441015-132441019, 132441052-132441083, 132441138, 132441156-132441171 |
| 536 | FOXL2 | 3 | 0.86825817860301 | 149 | 1131 | 138664515, 138664534-138664536, 138664541, 138664548, 138664653-138664658, 138664686-138664690, 138664775-138664816, 138664854-138664858, 138664865-138664905, 138665030, 138665046-138665077, 138665280-138665289, 138665434 |
| 537 | PLOD2 | 3 | 0.99429073342117 | 13 | 2277 | 145804630-145804642 |
| 538 | IFT80 | 3 | 0.9995704467354 | 1 | 2328 | 160000370 |
| 539 | GHSR | 3 | 0.99545867393279 | 5 | 1101 | 172166095-172166099 |
| 540 | ALG3 | 3 | 0.958238420653 | 55 | 1317 | 183960388, 183961396-183961398, 183966591-183966604, 183966616-183966639, 183966670-183966681, 183966698 |
| 541 | CLCN2 | 3 | 0.99962921764924 | 1 | 2697 | 184075054 |
| 542 | CPN2 | 3 | 0.98290598290598 | 28 | 1638 | 194061804-194061811, 194061886-194061888, 194061922-194061929, 194062238-194062244, 194062869-194062870 |
| 543 | PDE6B | 4 | 0.7692007797271 | 592 | 2565 | 619539-619557, 619593, 619722, 647642-647650, 647677, 647723-647725, 647729, 647755-647781, 647869-647900, 647906-647931, 648613-648621, 648636-648658, 649736-649765, 649792-649795, 650034-650050, 650663-650679, 650698-650727, 650750-650781, 650797-650812, 651140-651151, 651168-651192, 651226-651241, 651254-651283, 652741-652751, 652773-652776, 654290-654291, 654346-654359, 656326-656340, 656889-656890, 656903, 656963-656975, 657601-657641, 657659, 657931, 657983, 657995-657998, 658713-658730, 659048, 659053-659061, 659065-659078, 659103-659118, 660320-660321, 660326, 660389-660390, 661651-661654, 661657, 661691-661693, 661753, 663850-663878 |
| 544 | IDUA | 4 | 0.27268093781855 | 1427 | 1962 | 980873-981025, 981597-981670, 981681-981709, 981717-981737, 994400-994450, 994462-994485, 994673-994687, 994714-994734, 994746-994748, 994761-994766, 995296-995300, 995334-995336, 995492-995514, 995534-995550, 995585-995587, 995590-995592, 995602-995608, 995631-995634, 995651-995669, 995770-995919, 995949, 996065-996066, 996093-996109, 996137-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997405, 997808-997815, 997848-997900, 998055, 998088-998093, 998099-998104, 998117-998139, 998170-998181 |
| 545 | FGFR3 | 4 | 0.53605274000824 | 1126 | 2427 | 1795662-1795715, 1795722-1795770, 1800981-1801080, 1801110-1801149, 1801166-1801250, 1801474-1801496, 1801506-1801517, 1803094-1803109, 1803138-1803140, 1803145, 1803150, 1803153-1803162, 1803201-1803212, 1803222-1803263, 1803349-1803390, 1803400-1803438, 1803449, 1803462-1803470, 1803562-1803564, 1803567, 1803587-1803616, 1803635-1803653, 1803682-1803752, 1804654, 1804657-1804665, 1804739-1804767, 1804787-1804791, 1806057-1806094, 1806157-1806191, 1806200-1806209, 1806235-1806246, 1806553-1806557, 1806566-1806583, 1806589, 1806594-1806596, 1806604, 1806639-1806664, 1806684-1806696, 1807101-1807102, 1807169-1807175, 1807200-1807203, 1807286-1807290, 1807373-1807379, 1807496, 1807501-1807502, 1807550-1807563, 1807591-1807597, 1807646-1807663, 1807835-1807839, 1807845-1807847, 1807855-1807857, 1807860-1807879, 1807984-1807986, 1808032-1808054, 1808324-1808335, 1808361-1808367, 1808374-1808380, 1808556-1808563, 1808573, 1808587-1808593, 1808633-1808635, 1808661, 1808843-1808851, 1808888-1808899, 1808915-1808959, 1808969-1808989 |
| 546 | SH3BP2 | 4 | 0.93914916532041 | 113 | 1857 | 2819963-2819979, 2820027-2820052, 2820075-2820079, 2831383-2831419, 2834726-2834733, 2835508-2835526, 2835534 |
| 547 | HTT | 4 | 0.949305334606 | 478 | 9429 | 3076600-3076603, 3076604-3076809, 3149862, 3208322-3208331, 3208341, 3213781-3213785, 3213790-3213794, 3213815, 3215751-3215753, 3215757, 3231759, 3234909-3234914, 3234959-3234975, 3240186, 3240283-3240329, 3240545-3240558, 3240570-3240665, 3241587-3241597, 3241720-3241749, 3241769-3241786 |
| 548 | DOK7 | 4 | 0.1953795379538 | 1219 | 1515 | 3465103-3465106, 3465118-3465142, 3465233-3465278, 3475133-3475200, 3475203, 3475222-3475264, 3475277-3475338, 3475348-3475362, 3478069-3478269, 3487266-3487282, 3487294-3487300, 3487306, 3487344, 3487356-3487385, 3491486-3491499, 3494512-3494519, 3494525-3494696, 3494702-3494989, 3495006-3495104, 3495112-3495228 |
| 549 | DOK7 | 4 | 0.082910321489002 | 542 | 591 | 3494512-3494519, 3494525-3494696, 3494702-3494989, 3495006-3495079 |
| 550 | EVC2 | 4 | 0.98421186656481 | 62 | 3927 | 5710060, 5710087-5710091, 5710123-5710145, 5710157, 5710186-5710217 |
| 551 | EVC | 4 | 0.93789862369923 | 185 | 2979 | 5713108-5713144, 5713163-5713219, 5713250-5713271, 5713275, 5733239-5733240, 5754671-5754681, 5754729-5754776, 5755619, 5755622-5755623, 5755636, 5755639-5755641 |
| 552 | WFS1 | 4 | 0.98428731762065 | 42 | 2673 | 6279238-6279245, 6279358, 6279398-6279414, 6293678-6293681, 6293710-6293721 |
| 553 | PROM1 | 4 | 0.9949961508853 | 13 | 2598 | 16040569-16040581 |
| 554 | CNGA1 | 4 | 0.9969298245614 | 7 | 2280 | 47954697-47954702, 47973067 |
| 555 | KIT | 4 | 0.98635278062095 | 40 | 2931 | 55524182-55524205, 55524231-55524246 |
| 556 | COQ2 | 4 | 0.98268398268398 | 20 | 1155 | 84205697, 84205883-84205885, 84205888-84205895, 84205910-84205917 |
| 557 | PKD2 | 4 | 0.95218438252494 | 139 | 2907 | 88928901-88928949, 88928957-88928971, 88928992, 88928996-88929013, 88929059-88929101, 88929123-88929129, 88983060-88983065 |
| 558 | CISD2 | 4 | 0.97303921568627 | 11 | 408 | 103808512-103808522 |
| 559 | MFSD8 | 4 | 0.99678869621066 | 5 | 1557 | 128859953-128859956, 128859971 |
| 560 | FGB | 4 | 0.97222222222222 | 41 | 1476 | 155484171-155484172, 155484204-155484222, 155484261-155484272, 155487088, 155487106, 155487119-155487121, 155488907-155488908, 155489603 |
| 561 | CTSO | 4 | 0.97412008281574 | 25 | 966 | 156874950-156874964, 156874990-156874999 |
| 562 | GLRB | 4 | 0.96050870147256 | 59 | 1494 | 158041708-158041725, 158041773-158041813 |
| 563 | SLC25A4 | 4 | 0.98996655518395 | 9 | 897 | 186064588-186064596 |
| 564 | SDHA | 5 | 0.88370927318296 | 232 | 1995 | 218495-218533, 223682-223683, 224633, 225543-225573, 225590-225617, 225645, 230991-231015, 233595, 236673-236681, 240518-240529, 240569-240576, 251173-251179, 251466-251506, 254596-254621, 256472 |
| 565 | SLC6A19 | 5 | 0.53700787401575 | 882 | 1905 | 1201766-1201967, 1208898-1208947, 1208958, 1208969-1208988, 1210559-1210609, 1210638-1210676, 1212496-1212537, 1212583-1212591, 1213578-1213660, 1213666-1213672, 1214068-1214084, 1214113-1214134, 1214143-1214176, 1216673, 1216680-1216717, 1216765-1216801, 1216962-1216989, 1217011-1217022, 1217025-1217027, 1219018-1219064, 1219133-1219153, 1219191, 1219222, 1219659-1219745, 1219751-1219777, 1221272, 1221986 |
| 566 | TERT | 5 | 0.46925566343042 | 1804 | 3399 | 1253915-1253920, 1253924-1253925, 1253929, 1254483-1254493, 1254515, 1254518, 1254521, 1254533, 1254558, 1255500, 1255513-1255520, 1258715-1258718, 1258721, 1258745-1258752, 1264519-1264527, 1264547-1264577, 1264600, 1264604-1264609, 1264617-1264637, 1266579, 1266606, 1266609-1266620, 1266627, 1266637, 1268638, 1268668-1268703, 1271234-1271305, 1271312, 1272300-1272342, 1272390-1272395, 1278756-1278792, 1278803-1278830, 1278892-1278899, 1279406-1279410, 1279421-1279455, 1279458-1279459, 1279480-1279496, 1279506-1279585, 1280293, 1280336-1280339, 1280342, 1280363-1280392, 1280423-1280424, 1293429-1293430, 1293434-1293445, 1293483-1293491, 1293590-1293728, 1293743-1293760, 1293779-1293810, 1293842, 1293850, 1293860, 1293883-1294093, 1294106-1294279, 1294285-1294360, 1294374-1294379, 1294383-1294387, 1294394, 1294400-1294477, 1294496-1294542, 1294550-1294781, 1294886-1295104 |
| 567 | SLC6A3 | 5 | 0.56843800322061 | 804 | 1863 | 1403094, 1403186-1403204, 1406313-1406384, 1409141-1409151, 1409163-1409177, 1409202-1409211, 1409222-1409240, 1409836-1409859, 1409873-1409964, 1411358-1411405, 1411412, 1411423-1411470, 1414806-1414930, 1416217-1416249, 1416287-1416313, 1420690-1420751, 1420767-1420789, 1420796, 1420813-1420818, 1421991-1422129, 1432585, 1443154-1443159, 1443191-1443211 |
| 568 | SDHA | 5 | 0.90214067278287 | 32 | 327 | 1589424-1589455 |
| 569 | NDUFS6 | 5 | 0.952 | 18 | 375 | 1801552-1801562, 1801641-1801647 |
| 570 | DNAH5 | 5 | 0.99992792792793 | 1 | 13875 | 13864670 |
| 571 | ANKH | 5 | 0.99797160243408 | 3 | 1479 | 14713697-14713699 |
| 572 | FAM134B | 5 | 0.97925033467202 | 31 | 1494 | 16616803-16616812, 16616861, 16616959-16616976, 16617003-16617004 |
| 573 | NIPBL | 5 | 0.99976232917409 | 2 | 8415 | 37036481-37036482 |
| 574 | HEXB | 5 | 0.99820466786355 | 3 | 1671 | 73981161-73981163 |
| 575 | AP3B1 | 5 | 0.99695585996956 | 10 | 3285 | 77458691, 77458703-77458705, 77458709, 77477461-77477463, 77563389, 77563396 |
| 576 | RASA1 | 5 | 0.9910941475827 | 28 | 3144 | 86564536-86564556, 86564703-86564705, 86670062-86670065 |
| 577 | GPR98 | 5 | 0.99830875746525 | 32 | 18921 | 90144565, 90144568-90144587, 90144591-90144599, 90144609-90144610 |
| 578 | LMNB1 | 5 | 0.9114139693356 | 156 | 1761 | 126113201-126113205, 126113217-126113251, 126113289-126113337, 126113361-126113379, 126113382, 126113406-126113412, 126113447-126113450, 126113463-126113489, 126113500-126113501, 126113548-126113554 |
| 579 | SLC22A5 | 5 | 0.98864994026284 | 19 | 1674 | 131705891-131705897, 131705946-131705957 |
| 580 | UQCRQ | 5 | 0.96787148594378 | 8 | 249 | 132202597-132202604 |
| 581 | TGFBI | 5 | 0.99220272904483 | 16 | 2052 | 135364845-135364860 |
| 582 | MYOT | 5 | 0.99064796259185 | 14 | 1497 | 137221833, 137221866-137221877, 137221902 |
| 583 | SH3TC2 | 5 | 0.99896560641324 | 4 | 3867 | 148407378-148407381 |
| 584 | TCOF1 | 5 | 0.97337006427916 | 116 | 4356 | 149737310-149737329, 149737338-149737343, 149737346-149737365, 149737376-149737377, 149737408-149737417, 149748302, 149748360, 149748369-149748385, 149753887-149753889, 149755102, 149755455, 149755822-149755823, 149755834-149755841, 149758585-149758586, 149758937-149758943, 149759227-149759229, 149769518, 149769521-149769529, 149771665-149771666 |
| 585 | IL12B | 5 | 0.99898682877406 | 1 | 987 | 158750307 |
| 586 | NKX2-5 | 5 | 0.98769230769231 | 12 | 975 | 172659767, 172659770-172659772, 172661934-172661937, 172662006-172662009 |
| 587 | MSX2 | 5 | 0.86691542288557 | 107 | 804 | 174151727, 174151735, 174151740, 174151743, 174151763-174151775, 174151798-174151814, 174151853-174151909, 174151957, 174156524-174156538 |
| 588 | F12 | 5 | 0.87285223367698 | 74 | 582 | 176830255-176830276, 176830287-176830323, 176830363-176830377 |
| 589 | F12 | 5 | 0.68019480519481 | 591 | 1848 | 176830255-176830276, 176830287-176830323, 176830363-176830398, 176830496-176830497, 176830504, 176830516-176830542, 176830567-176830595, 176830598-176830600, 176830608-176830610, 176830860-176830871, 176830873-176830875, 176830879-176830971, 176830996-176831057, 176831073, 176831077-176831088, 176831205-176831261, 176831273, 176831296-176831302, 176831305, 176831361-176831393, 176831515, 176831528-176831546, 176831559-176831591, 176831597-176831635, 176831644, 176831841-176831842, 176831891-176831915, 176832055-176832079, 176832133, 176832408-176832410 |
| 590 | NHP2 | 5 | 0.9025974025974 | 45 | 462 | 177577949-177577957, 177580554-177580561, 177580659-177580686 |
| 591 | GRM6 | 5 | 0.88344722854973 | 307 | 2634 | 178408660, 178408687-178408698, 178408757-178408761, 178409939-178409946, 178413321-178413331, 178413387-178413411, 178413675-178413703, 178413875-178413892, 178413924-178413925, 178415937, 178418431, 178418934-178418956, 178421520-178421545, 178421575-178421599, 178421665-178421694, 178421798-178421802, 178421829-178421877, 178421887-178421918, 178421942-178421945 |
| 592 | SQSTM1 | 5 | 0.76946334089191 | 305 | 1323 | 179247937-179248141, 179250009-179250052, 179250873-179250874, 179251063-179251087, 179251254-179251267, 179251270, 179260142, 179260153, 179260187, 179260210-179260219, 179260233 |
| 593 | FLT4 | 5 | 0.23289345063539 | 3139 | 4092 | 180036982-180036984, 180038331-180038362, 180039591-180039602, 180041155, 180043367-180043408, 180043433-180043489, 180043911, 180043951-180043959, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048211, 180048221-180048252, 180048542-180048841, 180048852-180048904, 180049731-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545 |
| 594 | FOXC1 | 6 | 0.60830324909747 | 651 | 1662 | 1610695-1610714, 1610750, 1610758-1610886, 1610890-1610893, 1610896, 1610959-1610963, 1611020-1611021, 1611066-1611106, 1611180-1611207, 1611271-1611306, 1611325, 1611331-1611339, 1611341-1611356, 1611415-1611437, 1611459-1611505, 1611529-1611548, 1611573-1611592, 1611603, 1611609-1611611, 1611630, 1611639-1611725, 1611794-1611825, 1611889-1611934, 1611997-1612065, 1612098, 1612142-1612144, 1612159-1612163 |
| 595 | TUBB2B | 6 | 0.9932735426009 | 9 | 1338 | 3225047-3225049, 3225059, 3225442, 3227721-3227724 |
| 596 | DSP | 6 | 0.9955896007428 | 38 | 8616 | 7542149-7542150, 7555999-7556001, 7556004-7556006, 7558493, 7565746-7565752, 7578091-7578100, 7580650, 7583747-7583757 |
| 597 | DTNBP1 | 6 | 0.97253787878788 | 29 | 1056 | 15663060-15663086, 15663091, 15663098 |
| 598 | ATXN1 | 6 | 0.98692810457516 | 32 | 2448 | 16327863-16327870, 16327873, 16327876, 16327900-16327921 |
| 599 | NHLRC1 | 6 | 0.96296296296296 | 44 | 1188 | 18122687, 18122793-18122835 |
| 600 | HFE | 6 | 0.99904489016237 | 1 | 1047 | 26087727 |
| 601 | HLA-H | 6 | 0.69066666666667 | 232 | 750 | 29855764, 29855794-29855830, 29855837-29855908, 29855930-29855948, 29855952, 29855997-29856001, 29856254-29856293, 29856312-29856331, 29856347, 29856353, 29856368, 29856389, 29856424-29856427, 29856478, 29856483-29856486, 29856516, 29856534, 29856543, 29856546, 29856550, 29856559, 29856565, 29856589-29856596, 29856611, 29856633, 29856643, 29856679, 29856682, 29856693, 29856698, 29856711, 29856718 |
| 602 | NEU1 | 6 | 0.99038461538462 | 12 | 1248 | 31829845-31829849, 31829878-31829880, 31829936, 31829966-31829968 |
| 603 | TNXB | 6 | 0.66355624675998 | 649 | 1929 | 31976401-31976446, 31976454-31976492, 31976816, 31976830, 31976857, 31976931, 31976939-31976941, 31976950, 31976969-31976976, 31977054-31977107, 31977113-31977143, 31977157-31977195, 31977206-31977213, 31977308-31977313, 31977365, 31977377, 31977381, 31977385-31977387, 31977504-31977555, 31977642, 31977647, 31977747, 31977792-31977811, 31977818-31977840, 31978035-31978075, 31978119-31978124, 31978220-31978221, 31978230, 31978259, 31978272, 31978349-31978358, 31978361, 31978480-31978496, 31978512-31978535, 31978560, 31978574-31978575, 31978579-31978580, 31978598-31978599, 31978935, 31978949-31978966, 31978979, 31978985, 31979417-31979476, 31979487-31979526, 31979549, 31979563-31979573, 31979578, 31979622-31979635, 31979969-31979990, 31980000, 31980024, 31980042-31980043, 31980071-31980091 |
| 604 | CYP21A2 | 6 | 0.8877688172043 | 167 | 1488 | 32006215-32006220, 32006247, 32006274-32006281, 32006317, 32006337, 32006579, 32006871-32006872, 32007179-32007180, 32007605, 32007851-32007866, 32008333-32008351, 32008657-32008731, 32008741-32008766, 32008808, 32008812-32008813, 32008843-32008847 |
| 605 | TNXB | 6 | 0.95404195144945 | 585 | 12729 | 32009128-32009165, 32009187-32009223, 32009590-32009592, 32009663-32009669, 32009789-32009799, 32009805-32009839, 32009895, 32009912-32009947, 32010107-32010113, 32010116, 32010120-32010122, 32010233, 32010358-32010383, 32010521-32010523, 32010529-32010544, 32010567-32010597, 32010769-32010787, 32010824-32010858, 32010954-32010967, 32011006, 32011029, 32011073-32011095, 32011219-32011230, 32011331-32011333, 32011666-32011668, 32011809-32011844, 32012285-32012350, 32012379-32012380, 32012388, 32012392-32012393, 32012403, 32012417-32012420, 32012423-32012432, 32012472-32012475, 32012480-32012493, 32012836-32012837, 32012896-32012897, 32013010, 32013014-32013020, 32013024, 32013033, 32013036-32013038, 32013046, 32013076, 32023735-32023747, 32026096-32026099, 32035612, 32064137-32064149, 32064288-32064291, 32064324, 32064511-32064521, 32064547-32064558 |
| 606 | HLA-DQA1 | 6 | 0.99739583333333 | 2 | 768 | 32610436, 32610445 |
| 607 | HLA-DQB1 | 6 | 0.78371501272265 | 170 | 786 | 32628019-32628026, 32629124-32629173, 32629844-32629907, 32629935, 32632656-32632697, 32632781-32632784, 32634350 |
| 608 | SYNGAP1 | 6 | 0.97767857142857 | 90 | 4032 | 33388042-33388108, 33393580, 33410897-33410899, 33411372, 33411550, 33411609-33411610, 33411653-33411662, 33411708, 33411712-33411715 |
| 609 | FANCE | 6 | 0.96585971446307 | 55 | 1611 | 35420381-35420431, 35423636-35423639 |
| 610 | TULP1 | 6 | 0.89625537139349 | 169 | 1629 | 35473544-35473555, 35473805-35473813, 35477445-35477453, 35477487-35477497, 35477654, 35479444-35479446, 35479480-35479496, 35479573-35479574, 35479959-35479999, 35480011, 35480024-35480047, 35480435-35480467, 35480596-35480600, 35480628 |
| 611 | MOCS1 | 6 | 0.79748822605965 | 387 | 1911 | 39883883, 39893422-39893589, 39895068-39895107, 39895122-39895199, 39895218-39895317 |
| 612 | PEX6 | 6 | 0.97689432551818 | 68 | 2943 | 42934579, 42935222-42935247, 42936028-42936035, 42936127-42936133, 42936657-42936664, 42936682-42936686, 42936690-42936691, 42937708, 42946374, 42946438-42946442, 42946490, 42946645-42946647 |
| 613 | CUL7 | 6 | 0.99901903080243 | 5 | 5097 | 43016157-43016161 |
| 614 | RSPH9 | 6 | 0.9338146811071 | 55 | 831 | 43612848-43612874, 43612898-43612910, 43612967-43612974, 43613039-43613045 |
| 615 | RUNX2 | 6 | 0.95913154533844 | 64 | 1566 | 45390472-45390535 |
| 616 | EYS | 6 | 0.99989401165872 | 1 | 9435 | 65016919 |
| 617 | LMBRD1 | 6 | 0.99753542821935 | 4 | 1623 | 70410721-70410724 |
| 618 | RIMS1 | 6 | 0.99881866509155 | 6 | 5079 | 72892335-72892339, 72892366 |
| 619 | MYO6 | 6 | 0.97459823742872 | 98 | 3858 | 76589586-76589595, 76595791-76595792, 76599855-76599886, 76599914-76599926, 76599962-76599982, 76602357, 76617390-76617408 |
| 620 | PDSS2 | 6 | 0.985 | 18 | 1200 | 107780267-107780284 |
| 621 | OSTM1 | 6 | 0.96915422885572 | 31 | 1005 | 108395592, 108395695-108395717, 108395744, 108395792-108395797 |
| 622 | COL10A1 | 6 | 0.99608418991679 | 8 | 2043 | 116441740-116441747 |
| 623 | GJA1 | 6 | 0.99390774586597 | 7 | 1149 | 121768922-121768928 |
| 624 | LAMA2 | 6 | 0.99775712912528 | 21 | 9363 | 129712728-129712740, 129712771-129712777, 129725041 |
| 625 | PEX7 | 6 | 0.98045267489712 | 19 | 972 | 137143902-137143920 |
| 626 | SYNE1 | 6 | 0.99996211260135 | 1 | 26394 | 152532692 |
| 627 | TBP | 6 | 0.96862745098039 | 32 | 1020 | 170871034, 170871055-170871066, 170871069, 170871128-170871145 |
| 628 | LFNG | 7 | 0.17017543859649 | 946 | 1140 | 2559496-2559921, 2564329-2564377, 2564863-2564892, 2564903-2564904, 2564924-2564952, 2565048-2565072, 2565079-2565141, 2565151-2565201, 2565319-2565377, 2565878-2565909, 2565927-2565935, 2565962-2566043, 2566474-2566501, 2566539-2566555, 2566803-2566846 |
| 629 | PMS2 | 7 | 0.91348010814986 | 224 | 2589 | 6013045-6013052, 6013150-6013157, 6026507-6026514, 6026595-6026604, 6026636-6026675, 6026704-6026711, 6026771-6026775, 6026822, 6026829, 6026837, 6026840-6026850, 6026905-6026911, 6026956-6026965, 6026985-6027020, 6027030-6027040, 6029431-6029479, 6042142-6042143, 6048628-6048635 |
| 630 | TWIST1 | 7 | 0.67816091954023 | 196 | 609 | 19156515-19156520, 19156620-19156626, 19156636-19156705, 19156743, 19156756-19156766, 19156797-19156799, 19156802-19156865, 19156894-19156927 |
| 631 | DNAH11 | 7 | 0.99749484232243 | 34 | 13572 | 21582969-21582971, 21630587-21630616, 21920341 |
| 632 | DFNA5 | 7 | 0.99932930918846 | 1 | 1491 | 24758818 |
| 633 | HOXA13 | 7 | 0.74464438731791 | 298 | 1167 | 27239198-27239214, 27239239-27239249, 27239259, 27239262, 27239265, 27239268, 27239313, 27239316, 27239324-27239342, 27239351-27239408, 27239420, 27239423-27239424, 27239435-27239478, 27239481-27239483, 27239496-27239590, 27239601-27239642 |
| 634 | GHRHR | 7 | 0.99842767295597 | 2 | 1272 | 31008507, 31018762 |
| 635 | RP9 | 7 | 0.98948948948949 | 7 | 666 | 33148851-33148857 |
| 636 | GCK | 7 | 0.85082084225553 | 209 | 1401 | 44185211-44185224, 44185236, 44186062-44186138, 44187249, 44187255, 44187399-44187404, 44189598-44189601, 44190636-44190672, 44191870-44191882, 44191993, 44192903-44192904, 44192942, 44192945-44192960, 44192969-44192997, 44193019-44193024 |
| 637 | CCM2 | 7 | 0.77453183520599 | 301 | 1335 | 45039933-45039962, 45113068, 45113129-45113165, 45113869-45113870, 45113879-45113937, 45113981-45113987, 45115376-45115432, 45115454-45115466, 45115514-45115516, 45115542-45115583, 45115594-45115601, 45115609-45115645, 45115650-45115654 |
| 638 | DDC | 7 | 0.99099099099099 | 13 | 1443 | 50566896-50566908 |
| 639 | EGFR | 7 | 0.9887145609689 | 41 | 3633 | 55086971-55087004, 55087025-55087031 |
| 640 | GUSB | 7 | 0.95398773006135 | 90 | 1956 | 65439364-65439368, 65439417, 65441003-65441004, 65441182, 65444401-65444417, 65445231-65445236, 65446963-65446972, 65447006-65447026, 65447120-65447146 |
| 641 | ASL | 7 | 0.58136200716846 | 584 | 1395 | 65541069-65541080, 65546826-65546870, 65546893-65546898, 65546975-65546984, 65547355-65547369, 65547399-65547411, 65547414-65547434, 65547438, 65548101-65548115, 65551572-65551583, 65551613-65551615, 65551731-65551794, 65551802-65551808, 65552330-65552358, 65552727-65552728, 65552748-65552778, 65553805, 65553812-65553887, 65554108-65554131, 65554140-65554162, 65554614-65554643, 65554671-65554682, 65556993-65557024, 65557052-65557069, 65557568-65557575, 65557625-65557643, 65557815, 65557819-65557827, 65557855-65557899 |
| 642 | KCTD7 | 7 | 0.90114942528736 | 86 | 870 | 66094052, 66094059, 66094064, 66094092-66094098, 66094120-66094195 |
| 643 | NCF1 | 7 | 0.91393939393939 | 71 | 825 | 72639983-72639998, 72640033-72640039, 72643606, 72643614, 72643630-72643632, 72645876, 72648696, 72648710-72648750 |
| 644 | ELN | 7 | 0.89379310344828 | 231 | 2175 | 73442518-73442599, 73456993-73457017, 73459566-73459595, 73462023, 73462859-73462861, 73466080-73466086, 73466257-73466297, 73469067, 73474706-73474712, 73475463, 73477486, 73477494-73477499, 73477668-73477692, 73477696 |
| 645 | NCF1 | 7 | 0.80136402387042 | 233 | 1173 | 74188398-74188404, 74193639-74193680, 74197295, 74197299, 74197313, 74197317, 74197347, 74197388, 74197962, 74199607-74199613, 74202390-74202396, 74202410-74202432, 74202915-74202954, 74202989-74203034, 74203386, 74203389, 74203400-74203419, 74203448-74203477, 74203493, 74203504 |
| 646 | POR | 7 | 0.58492413117964 | 848 | 2043 | 75608773-75608776, 75608849-75608864, 75609768-75609805, 75610418, 75610430-75610440, 75610835, 75610840, 75610853-75610856, 75610859-75610863, 75611547-75611583, 75612854-75612889, 75612939, 75612942-75612944, 75613076-75613112, 75613157-75613164, 75613172-75613174, 75614095-75614099, 75614121-75614170, 75614180-75614269, 75614401-75614424, 75614433-75614525, 75614903-75614994, 75615016, 75615039-75615116, 75615123-75615164, 75615241-75615262, 75615265-75615277, 75615287, 75615327-75615352, 75615366, 75615373, 75615376-75615386, 75615480-75615511, 75615550-75615559, 75615706-75615731, 75615760-75615772, 75615789-75615799 |
| 647 | HSPB1 | 7 | 0.57443365695793 | 263 | 618 | 75932043-75932080, 75932087-75932112, 75932167-75932194, 75932215-75932230, 75932237, 75932248-75932329, 75932390, 75933131-75933171, 75933302-75933303, 75933332-75933349, 75933435-75933442, 75933489-75933490 |
| 648 | CD36 | 7 | 0.99859055673009 | 2 | 1419 | 80302086-80302087 |
| 649 | AKAP9 | 7 | 0.99812350733538 | 22 | 11724 | 91609623-91609626, 91630244-91630261 |
| 650 | PEX1 | 7 | 0.99766355140187 | 9 | 3852 | 92157643-92157651 |
| 651 | SLC25A13 | 7 | 0.99606105366814 | 8 | 2031 | 95951255-95951262 |
| 652 | TFR2 | 7 | 0.99833748960931 | 4 | 2406 | 100238652-100238655 |
| 653 | CFTR | 7 | 0.97321629529597 | 119 | 4443 | 117188713-117188753, 117188760-117188800, 117188847-117188877, 117235020-117235025 |
| 654 | IMPDH1 | 7 | 0.97888888888889 | 38 | 1800 | 128049833-128049848, 128049872-128049889, 128049917-128049919, 128049954 |
| 655 | FLNC | 7 | 0.99070677427244 | 76 | 8178 | 128470692-128470714, 128470843-128470850, 128470902-128470919, 128470984-128470988, 128470999-128471013, 128477276-128477282 |
| 656 | ATP6V0A4 | 7 | 0.9944510503369 | 14 | 2523 | 138394431, 138394445-138394457 |
| 657 | BRAF | 7 | 0.99608865710561 | 9 | 2301 | 140624374, 140624395, 140624404-140624409, 140624477 |
| 658 | PRSS1 | 7 | 0.85215053763441 | 110 | 744 | 142458483-142458529, 142459676-142459682, 142459794-142459817, 142460366-142460397 |
| 659 | KCNH2 | 7 | 0.93563218390805 | 224 | 3480 | 150644809-150644816, 150648903-150648920, 150654529-150654535, 150655153-150655183, 150655207-150655221, 150655226, 150656675-150656689, 150671812, 150671857-150671871, 150671877, 150671903-150671914, 150671944-150671947, 150671982-150671988, 150672000-150672029, 150674926-150674931, 150674949-150675001 |
| 660 | PRKAG2 | 7 | 0.99122807017544 | 15 | 1710 | 151329160, 151573605-151573608, 151573634-151573643 |
| 661 | SHH | 7 | 0.48956083513319 | 709 | 1389 | 155595594-155595640, 155595657-155595735, 155595742-155595933, 155595942-155595946, 155595954-155596134, 155596141-155596147, 155596162-155596222, 155596262-155596266, 155596289-155596357, 155596404, 155596409-155596420, 155599028-155599037, 155599064-155599074, 155599111-155599119, 155599123-155599142 |
| 662 | MNX1 | 7 | 0.60199004975124 | 480 | 1206 | 156798408-156798415, 156798475-156798478, 156799259-156799272, 156802394-156802404, 156802527, 156802538-156802544, 156802549-156802552, 156802593-156803023 |
| 663 | GATA4 | 8 | 0.94356659142212 | 75 | 1329 | 11565857-11565870, 11565916-11565923, 11566143-11566154, 11566172-11566193, 11566363-11566368, 11566394-11566406 |
| 664 | ASAH1 | 8 | 0.99494949494949 | 6 | 1188 | 17928809-17928814 |
| 665 | NEFL | 8 | 0.99203431372549 | 13 | 1632 | 24813415-24813422, 24813661-24813665 |
| 666 | CHRNA2 | 8 | 0.99182389937107 | 13 | 1590 | 27320577, 27320582, 27320587, 27320859-27320862, 27321016-27321021 |
| 667 | FGFR1 | 8 | 0.99918798213561 | 2 | 2463 | 38314927-38314928 |
| 668 | ANK1 | 8 | 0.99315068493151 | 39 | 5694 | 41552223-41552241, 41559625-41559626, 41561929-41561931, 41571735-41571744, 41581087, 41581090, 41583437-41583439 |
| 669 | THAP1 | 8 | 0.95015576323988 | 32 | 642 | 42693124-42693135, 42693139-42693140, 42693478, 42698167-42698183 |
| 670 | HGSNAT | 8 | 0.94339622641509 | 108 | 1908 | 42995640-42995641, 42995652-42995757 |
| 671 | CHD7 | 8 | 0.9998888147654 | 1 | 8994 | 61734382 |
| 672 | VPS13B | 8 | 0.99958312489578 | 5 | 11994 | 100026125-100026129 |
| 673 | KCNQ3 | 8 | 0.99312714776632 | 18 | 2619 | 133492566-133492583 |
| 674 | SLURP1 | 8 | 0 | 312 | 312 | 143822561-143822694, 143823221-143823340, 143823746-143823803 |
| 675 | CYP11B1 | 8 | 0.98611111111111 | 21 | 1512 | 143958513-143958533 |
| 676 | CYP11B2 | 8 | 0.98346560846561 | 25 | 1512 | 143993947-143993969, 143996539, 143996553 |
| 677 | PLEC | 8 | 0.33326218427606 | 9371 | 14055 | 144990345-144990410, 144990416-144990419, 144990465-144990517, 144990528-144990530, 144990544-144990567, 144990588-144990614, 144990625-144990656, 144990722-144990723, 144990731-144990734, 144990748, 144990751-144990752, 144990772-144990800, 144990839, 144990842, 144990865-144990866, 144990871, 144991037-144991043, 144991051, 144991054, 144991183-144991192, 144991303, 144991309, 144991325, 144991368, 144991403, 144991450, 144991614-144991625, 144991628, 144991750-144991764, 144991792-144991815, 144991849, 144991891-144991895, 144991956-144991970, 144992025-144992026, 144992050-144992071, 144992103, 144992174-144992181, 144992208-144992211, 144992240-144992246, 144992279, 144992285, 144992361, 144992383-144992445, 144992524-144992549, 144992577-144992613, 144992688, 144992691-144992692, 144992696-144992718, 144992789-144992794, 144992813-144992844, 144992905, 144992923, 144992928, 144992936, 144992956, 144992967-144992977, 144993007-144993023, 144993050-144993072, 144993077, 144993102, 144993138-144993175, 144993208, 144993218-144993235, 144993243-144993248, 144993312-144993313, 144993324, 144993344-144993362, 144993415, 144993422-144993425, 144993484-144993486, 144993510-144993541, 144993573-144993622, 144993697-144993699, 144993721-144993765, 144993784-144993916, 144993936, 144993947, 144993951-144993966, 144993995, 144994005-144994033, 144994041, 144994045-144994046, 144994153-144994154, 144994190-144994208, 144994222-144994266, 144994302-144994335, 144994345-144994347, 144994354-144994368, 144994385, 144994393-144994406, 144994420-144994450, 144994471-144994474, 144994489, 144994561, 144994574-144994576, 144994631-144994646, 144994661, 144994734-144994778, 144994804, 144994810, 144994813-144994860, 144994869-144994900, 144994921-144994956, 144994980, 144995024-144995064, 144995147-144995167, 144995180-144995193, 144995214-144995257, 144995308-144995312, 144995315-144995317, 144995320, 144995344-144995347, 144995350-144995351, 144995374-144995403, 144995468-144995470, 144995498-144995501, 144995506, 144995541-144995576, 144995593-144995642, 144995684-144995685, 144995688, 144995722-144995739, 144995780-144995854, 144995868-144995875, 144995887-144995947, 144995973-144995976, 144996003, 144996006-144996021, 144996062-144996093, 144996122, 144996127-144996132, 144996148, 144996165-144996184, 144996192-144996193, 144996201-144996274, 144996316, 144996321, 144996328, 144996333-144996336, 144996353-144996426, 144996486, 144996498-144996499, 144996522-144996563, 144996672-144996742, 144996748-144996790, 144996796, 144996802, 144996823-144996826, 144996830, 144996836-144996838, 144996854-144997015, 144997024-144997161, 144997189-144997193, 144997198-144997200, 144997204, 144997220-144997246, 144997257-144997303, 144997323-144997338, 144997389-144997498, 144997513-144997569, 144997601-144998074, 144998082-144999964, 144999970-145000052, 145000952-145000971, 145000977-145000982, 145000993-145001050, 145001145-145001190, 145001196-145001249, 145001420-145001436, 145001459-145001494, 145001585-145001855, 145001864-145001871, 145001874-145001921, 145001923-145001934, 145002027-145002097, 145002112-145002135, 145002156-145002160, 145003271-145003286, 145003293-145003449, 145003582-145003737, 145003814-145003997, 145004104-145004230, 145004312-145004466, 145004552-145004647, 145004667-145004669, 145004676-145004704, 145005702-145005827, 145006105-145006200, 145006298-145006402, 145006568-145006729, 145006803-145006880, 145006961-145007277, 145007365-145007519, 145008166-145008259, 145008486-145008613, 145008803-145008818, 145008826-145008898, 145008978-145009097, 145009179-145009285, 145009366-145009438, 145009454-145009481, 145010016-145010095, 145010110-145010182, 145011147-145011239, 145011333-145011379, 145011389-145011410, 145012319-145012357, 145012363-145012390, 145012394-145012408, 145012799-145012811, 145012838-145012860, 145024369-145024399, 145024407-145024541, 145024549-145024576, 145024598-145024625, 145024644-145024671, 145024692-145024738, 145024744-145024777, 145024788-145024874 |
| 678 | GPT | 8 | 0.14285714285714 | 1278 | 1491 | 145729701-145729704, 145729707-145729710, 145729716-145729723, 145729727, 145729737, 145729755-145729804, 145729836-145729849, 145729987-145729994, 145730000-145730026, 145730044-145730066, 145730071-145730072, 145730171-145730192, 145730209-145730220, 145730224-145730228, 145730245-145730262, 145730381-145730514, 145730633, 145730649-145730872, 145731231-145731310, 145731378-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732118, 145732122-145732206, 145732302-145732383 |
| 679 | RECQL4 | 8 | 0.13620071684588 | 3133 | 3627 | 145736814-145736938, 145737064-145737172, 145737294-145737450, 145737527-145737676, 145737693-145737707, 145737775-145737944, 145738025-145738154, 145738230-145738521, 145738601-145738768, 145738770-145738864, 145738955-145739052, 145739061-145739096, 145739312-145739469, 145739483-145739491, 145739573, 145739582-145739588, 145739597-145739607, 145739623-145739667, 145739683-145739746, 145739826-145739831, 145739837-145739842, 145739846-145739855, 145739858-145739861, 145739881-145739909, 145740330-145740376, 145740387, 145740404-145740411, 145740438, 145740445-145740456, 145740544-145740605, 145740620-145740626, 145740710-145740747, 145740754-145740755, 145740790-145740841, 145741171-145741190, 145741213-145741227, 145741252-145741274, 145741372-145741397, 145741403-145741435, 145741445-145741472, 145741497-145741499, 145741510-145741514, 145741537-145741768, 145741785-145741791, 145741826-145741828, 145741850-145741992, 145742017-145742148, 145742440-145742553, 145742564-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168 |
| 680 | DOCK8 | 9 | 0.97714285714286 | 144 | 6300 | 382656-382662, 396786-396788, 396791-396794, 396802-396826, 396839, 396858-396873, 396879-396882, 396913-396922, 399162-399163, 399170-399211, 399218, 399221-399223, 399249-399257, 404952, 404979, 407016-407026, 429772-429775 |
| 681 | VLDLR | 9 | 0.98131197559115 | 49 | 2622 | 2622198-2622231, 2622242, 2622252-2622265 |
| 682 | SLC1A1 | 9 | 0.99936507936508 | 1 | 1575 | 4490770 |
| 683 | JAK2 | 9 | 0.9982347749338 | 6 | 3399 | 5066745-5066750 |
| 684 | GLDC | 9 | 0.99020568070519 | 30 | 3063 | 6645313, 6645317, 6645325-6645338, 6645373, 6645487-6645499 |
| 685 | GRHPR | 9 | 0.91185410334347 | 87 | 987 | 37422774-37422821, 37424868-37424870, 37424933-37424939, 37425935-37425948, 37425974-37425976, 37428509-37428520 |
| 686 | TRPM6 | 9 | 0.99934091283572 | 4 | 6069 | 77357519-77357522 |
| 687 | AUH | 9 | 0.98529411764706 | 15 | 1020 | 94124061-94124070, 94124124-94124128 |
| 688 | ROR2 | 9 | 0.97351694915254 | 75 | 2832 | 94495425-94495426, 94712173-94712245 |
| 689 | FBP1 | 9 | 0.99901671583088 | 1 | 1017 | 97401451 |
| 690 | PTCH1 | 9 | 0.99470534069982 | 23 | 4344 | 98270546-98270552, 98270589-98270595, 98270607-98270609, 98270622-98270627 |
| 691 | XPA | 9 | 0.99756690997567 | 2 | 822 | 100459443-100459444 |
| 692 | FOXE1 | 9 | 0.71657754010695 | 318 | 1122 | 100616205-100616223, 100616302-100616329, 100616531-100616545, 100616568-100616601, 100616610-100616638, 100616686-100616718, 100616744-100616792, 100616921-100616928, 100616947, 100616955-100616958, 100617073-100617084, 100617122-100617157, 100617166-100617215 |
| 693 | TGFBR1 | 9 | 0.99404761904762 | 9 | 1512 | 101867538-101867546 |
| 694 | MUSK | 9 | 0.99961685823755 | 1 | 2610 | 113547815 |
| 695 | ALAD | 9 | 0.99798590130916 | 2 | 993 | 116153180-116153181 |
| 696 | DFNB31 | 9 | 0.99522760646109 | 13 | 2724 | 117267021-117267032, 117267081 |
| 697 | NR5A1 | 9 | 0.92857142857143 | 99 | 1386 | 127245167-127245173, 127255324-127255327, 127262447-127262453, 127262540-127262557, 127262594-127262606, 127262795-127262797, 127262846, 127265389-127265413, 127265573-127265593 |
| 698 | LMX1B | 9 | 0.99910634495085 | 1 | 1119 | 129376801 |
| 699 | STXBP1 | 9 | 0.98233995584989 | 32 | 1812 | 130374688-130374719 |
| 700 | ENG | 9 | 0.948406676783 | 102 | 1977 | 130577969-130577977, 130577993, 130578016-130578033, 130578067, 130578071-130578080, 130578255, 130578258-130578259, 130578288-130578314, 130580525, 130580640, 130586717, 130586720, 130587163-130587170, 130588026, 130588074-130588090, 130616573, 130616583, 130616586 |
| 701 | GLE1 | 9 | 0.98521697663329 | 31 | 2097 | 131267164-131267179, 131285989-131286003 |
| 702 | DOLK | 9 | 0.995670995671 | 7 | 1617 | 131709384-131709387, 131709482, 131709534-131709535 |
| 703 | TOR1A | 9 | 0.95895895895896 | 41 | 999 | 132586322-132586362 |
| 704 | ASS1 | 9 | 0.99838579499596 | 2 | 1239 | 133370329, 133370377 |
| 705 | POMT1 | 9 | 0.98255280073462 | 38 | 2178 | 134394301-134394305, 134394820-134394845, 134398324-134398330 |
| 706 | SETX | 9 | 0.99975105800349 | 2 | 8034 | 135139893-135139894 |
| 707 | TSC1 | 9 | 0.99885550786838 | 4 | 3495 | 135771988-135771990, 135781490 |
| 708 | CEL | 9 | 0.75957727873184 | 546 | 2271 | 135937422-135937423, 135937432, 135937439, 135946012-135946018, 135946464-135946466, 135946519-135946536, 135946557-135947012, 135947034-135947091 |
| 709 | SURF1 | 9 | 0.67774086378738 | 291 | 903 | 136218768-136218777, 136218930, 136218939, 136218979, 136218997, 136219327, 136219341-136219342, 136219443, 136219447, 136219552, 136219555-136219562, 136220614-136220622, 136220690, 136220693-136220694, 136220782-136220795, 136221516-136221518, 136221523, 136221526-136221530, 136221538, 136221548, 136221558-136221567, 136221580-136221596, 136221679-136221768, 136221802-136221805, 136221809, 136223124-136223153, 136223156-136223175, 136223276-136223329 |
| 710 | ADAMTS13 | 9 | 0.61671335200747 | 1642 | 4284 | 136287577, 136288244, 136289578-136289583, 136290649-136290653, 136290656, 136290693-136290714, 136291090-136291102, 136291150-136291162, 136291376-136291416, 136291460-136291463, 136293754-136293891, 136295059-136295221, 136297718-136297748, 136297770-136297813, 136298520-136298541, 136298584-136298628, 136301949-136301950, 136301961, 136301964-136301966, 136301971-136301985, 136301991-136302061, 136302064, 136302869-136302898, 136302911-136302914, 136302917-136302939, 136303013, 136303435-136303436, 136303444, 136303447, 136303458, 136303461-136303478, 136305529-136305547, 136305574-136305600, 136305625-136305626, 136307557-136307624, 136307630-136307655, 136307736, 136307740-136307748, 136307751-136307762, 136307788-136307790, 136307815-136307858, 136308500-136308504, 136308507-136308544, 136308579, 136308600-136308603, 136308616-136308618, 136308628-136308640, 136308648-136308682, 136310027, 136310038-136310039, 136310046, 136310049, 136310078, 136310082, 136310889, 136310892-136310897, 136310906-136310908, 136310915-136310927, 136313728, 136313742, 136313758-136313800, 136313806-136313817, 136313834, 136314909-136314924, 136315013, 136315054-136315065, 136315071-136315085, 136319550, 136319558-136319565, 136319571-136319577, 136319606-136319647, 136319660, 136319703, 136319714-136319726, 136319732, 136320419, 136320422, 136320444-136320484, 136320557-136320613, 136320622-136320660, 136320675-136320700, 136321191-136321199, 136321239-136321262, 136321310, 136321735-136321776, 136321793-136321827, 136323051, 136323078, 136323083, 136323087-136323089, 136323092-136323102, 136323137-136323166, 136323180-136323181, 136324152, 136324162-136324176, 136324186, 136324194, 136324222-136324230, 136324239, 136324254-136324302 |
| 711 | DBH | 9 | 0.79881337648328 | 373 | 1854 | 136504986-136504989, 136505015-136505037, 136516756-136516759, 136516785-136516805, 136516808, 136516822-136516850, 136516866-136516892, 136517368-136517373, 136518062-136518079, 136518093, 136518097-136518121, 136521645-136521663, 136521686-136521713, 136521730, 136521741-136521758, 136522192-136522214, 136522238-136522239, 136522242-136522243, 136522246-136522294, 136522311, 136522324-136522351, 136523444, 136523493-136523527, 136523543-136523549 |
| 712 | SARDH | 9 | 0.75843307943417 | 666 | 2757 | 136529011-136529023, 136529048-136529117, 136529129-136529136, 136531857-136531864, 136531870-136531992, 136535706-136535874, 136536657-136536819, 136555502-136555513, 136555558-136555567, 136555634, 136555645-136555649, 136559380-136559385, 136559390, 136559393-136559407, 136559475-136559484, 136568039-136568041, 136568051-136568062, 136577756, 136578193-136578199, 136599267-136599295 |
| 713 | COL5A1 | 9 | 0.73300706905927 | 1473 | 5517 | 137534034-137534142, 137582758-137582925, 137591755-137591842, 137591851-137591968, 137593017-137593051, 137593066-137593179, 137619112-137619126, 137623352-137623353, 137623463-137623469, 137630632-137630649, 137642388-137642462, 137642636-137642668, 137642688-137642728, 137644435-137644436, 137644458-137644483, 137645696-137645721, 137645725, 137646119-137646172, 137648636-137648664, 137650089-137650097, 137650111, 137650122-137650132, 137653771-137653772, 137653789-137653824, 137655539-137655546, 137655552-137655558, 137655570-137655583, 137657528, 137657533, 137658310-137658344, 137664644-137664645, 137664660-137664665, 137664680, 137666728, 137666734-137666758, 137671948-137671970, 137674513-137674518, 137674524-137674527, 137674563, 137676881-137676903, 137676914-137676942, 137677872-137677894, 137686971, 137687108-137687132, 137688239-137688240, 137688248-137688255, 137688694-137688704, 137690294, 137693805-137693853, 137694826-137694828, 137697055, 137698124-137698125, 137701045-137701049, 137703338, 137703344-137703345, 137703361, 137703381, 137704532-137704540, 137705834-137705835, 137705879-137705882, 137707808-137707811, 137707814-137707818, 137710502-137710504, 137710516-137710517, 137710520-137710533, 137710548-137710575, 137710694, 137710730, 137710733-137710737, 137716689-137716692, 137726859-137726892, 137726900-137726902, 137727037-137727038, 137727043-137727050, 137734086 |
| 714 | LHX3 | 9 | 0.81224152191894 | 227 | 1209 | 139089273-139089274, 139089312-139089317, 139089321-139089328, 139089331-139089354, 139089401, 139089468-139089474, 139089547-139089548, 139090527-139090529, 139090534, 139090554-139090568, 139090603-139090606, 139090609, 139090769-139090794, 139090803, 139090883-139090905, 139091545-139091548, 139091675, 139091691-139091694, 139094792-139094885 |
| 715 | INPP5E | 9 | 0.27751937984496 | 1398 | 1935 | 139324135, 139324184, 139324249-139324255, 139324729, 139324737, 139324754-139324760, 139325463, 139325505-139325517, 139325543-139325559, 139326276-139326332, 139326338-139326437, 139326931-139326935, 139326954-139326960, 139326976-139326980, 139326997-139327038, 139327408-139327410, 139327432-139327464, 139327467-139327471, 139327476-139327479, 139327486-139327527, 139327607-139327642, 139327648-139327731, 139328496-139328586, 139329192-139329252, 139329271-139329305, 139333060-139333078, 139333106, 139333119-139333123, 139333130-139333380, 139333387-139333744, 139333757-139333857, 139333868-139333871 |
| 716 | NOTCH1 | 9 | 0.064162754303599 | 7176 | 7668 | 139390523-139390546, 139390556-139390627, 139390634-139390783, 139390788-139390799, 139390814-139391370, 139391378-139392010, 139393351-139393382, 139393400-139393417, 139393443-139393448, 139393564-139393591, 139393600-139393711, 139395004-139395299, 139396213-139396365, 139396453-139396536, 139396724-139396804, 139396814-139396857, 139396864-139396937, 139397634-139397647, 139397668-139397712, 139397729-139397782, 139399130-139399556, 139399762-139400101, 139400131-139400333, 139400979-139401038, 139401044-139401091, 139401168-139401281, 139401290-139401294, 139401298-139401300, 139401303-139401351, 139401368-139401387, 139401395, 139401406-139401425, 139401757-139401768, 139401804-139401808, 139401814-139401849, 139401859-139401889, 139402407-139402591, 139402684-139402757, 139402788, 139402794-139402801, 139402811-139402837, 139403322-139403523, 139404185-139404236, 139404252-139404266, 139404281-139404306, 139404313-139404371, 139404385-139404390, 139404402, 139404405-139404406, 139404413, 139405108-139405115, 139405121-139405134, 139405136-139405229, 139405240-139405257, 139405605-139405723, 139407473-139407586, 139407844-139407872, 139407880-139407980, 139408962-139408991, 139409008-139409014, 139409023-139409085, 139409093-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589, 139412599-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418261, 139418272-139418431, 139438476-139438554, 139440178-139440238 |
| 717 | AGPAT2 | 9 | 0.24731182795699 | 630 | 837 | 139568204-139568272, 139568281-139568284, 139568297-139568354, 139568374-139568379, 139569187-139569212, 139569232-139569259, 139571056-139571063, 139571070-139571081, 139571121-139571132, 139571413-139571426, 139571435-139571478, 139571509-139571522, 139571543-139571588, 139571875-139571964, 139571990-139572006, 139581628-139581809 |
| 718 | SLC34A3 | 9 | 0.29111111111111 | 1276 | 1800 | 140126159-140126199, 140126227, 140126524-140126546, 140126549-140126556, 140126569, 140127027-140127058, 140127066-140127068, 140127081, 140127087, 140127121-140127123, 140127131-140127132, 140127150-140127155, 140127236-140127249, 140127287-140127295, 140127302-140127303, 140127315-140127352, 140127370-140127379, 140127456-140127508, 140127551, 140127563-140127566, 140127673-140127696, 140127702-140127752, 140127788-140127790, 140127796, 140127799-140127804, 140127821-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128672, 140128682-140128728, 140128868-140128900, 140128914-140128920, 140128941-140128964, 140128978-140128984, 140129059-140129064, 140129094-140129150, 140129153-140129154, 140129173-140129183, 140130409-140130529, 140130544, 140130547-140130550, 140130553, 140130558-140130570, 140130575, 140130578-140130713, 140130719-140130868 |
| 719 | EHMT1 | 9 | 0.74775468308956 | 983 | 3897 | 140513481-140513501, 140605426-140605476, 140611078-140611634, 140622811-140622839, 140622874-140622961, 140638523, 140669667, 140671260-140671282, 140672355-140672368, 140706055, 140707974, 140708883-140708907, 140708940-140708945, 140708948-140708956, 140728838-140728847, 140728886-140728935, 140728947-140728967, 140729245-140729246, 140729268-140729309, 140729326-140729337, 140729341, 140729345-140729346, 140729349, 140729381-140729385, 140729389, 140729393-140729401 |
| 720 | SHOX | X | 0.46643913538111 | 469 | 879 | 591633-591909, 595353-595410, 595433-595561, 605251-605253, 605256, 605280 |
| 721 | CSF2RA | X | 0.27969348659004 | 940 | 1305 | 1401612-1401613, 1401617, 1401631-1401643, 1401647-1401672, 1404671-1404813, 1407497-1407505, 1407508-1407509, 1407520, 1407531, 1407687-1407698, 1407726-1407727, 1407732-1407738, 1407764-1407768, 1409238-1409258, 1409270-1409271, 1409286, 1409295-1409373, 1409392-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422912, 1424339-1424356, 1424377-1424420, 1428311, 1428317-1428356 |
| 722 | ARSE | X | 0.99943502824859 | 1 | 1770 | 2852951 |
| 723 | KAL1 | X | 0.99021047479197 | 20 | 2043 | 8699981-8700000 |
| 724 | GPR143 | X | 0.97254901960784 | 35 | 1275 | 9733757-9733765, 9733773-9733778, 9733806-9733825 |
| 725 | MID1 | X | 0.99800399201597 | 4 | 2004 | 10450638-10450641 |
| 726 | CDKL5 | X | 0.99967668929842 | 1 | 3093 | 18668647 |
| 727 | PHKA2 | X | 0.97437971952535 | 95 | 3708 | 18912413-18912450, 18912465, 18912473, 18912476, 18912482, 18912489, 18917308-18917317, 19002006-19002047 |
| 728 | RPS6KA3 | X | 0.99775078722447 | 5 | 2223 | 20284690-20284694 |
| 729 | SMS | X | 0.9700272479564 | 33 | 1101 | 21958943-21958960, 21958966-21958970, 21958972-21958973, 21958976, 21958982, 21958986-21958991 |
| 730 | ARX | X | 0.90763765541741 | 156 | 1689 | 25031311-25031318, 25031453-25031458, 25031476-25031504, 25031514-25031533, 25031542-25031554, 25031622-25031683, 25031709, 25031714-25031722, 25031726-25031728, 25031777-25031779, 25031914-25031915 |
| 731 | DMD | X | 0.99936697413637 | 7 | 11058 | 32383291-32383297 |
| 732 | RPGR | X | 0.59207863544377 | 1411 | 3459 | 38144827-38144865, 38144929-38144981, 38144997-38145000, 38145011-38145012, 38145023, 38145032, 38145036-38145043, 38145051, 38145054-38145064, 38145082, 38145109-38146108, 38146129-38146188, 38146201, 38146214-38146255, 38146282-38146288, 38146308, 38146316-38146321, 38146349-38146399, 38146413-38146458, 38147135-38147151, 38147206, 38147222-38147235, 38150226-38150244, 38156537, 38156583-38156602, 38163913-38163916 |
| 733 | BCOR | X | 0.97342444950645 | 140 | 5268 | 39921594-39921595, 39921603, 39922048, 39922126-39922132, 39922196-39922210, 39923623-39923632, 39930244-39930260, 39931891-39931908, 39932047-39932067, 39932173, 39932188-39932189, 39932400, 39932757-39932765, 39932971, 39933143, 39933289, 39933367-39933381, 39933393, 39933548, 39933617, 39933709-39933710, 39933897-39933902, 39933967, 39933970, 39934057, 39934086, 39934112, 39934384 |
| 734 | NYX | X | 0.93637621023513 | 92 | 1446 | 41332788-41332814, 41332825, 41333042-41333053, 41333089, 41333200-41333202, 41333298-41333301, 41333304, 41333331-41333342, 41333349, 41333409-41333418, 41333458-41333470, 41333473-41333474, 41333510-41333514 |
| 735 | MAOA | X | 0.98800505050505 | 19 | 1584 | 43571990-43572008 |
| 736 | PQBP1 | X | 0.99624060150376 | 3 | 798 | 48758577-48758578, 48759243 |
| 737 | CACNA1F | X | 0.99966295921807 | 2 | 5934 | 49067109-49067110 |
| 738 | CLCN5 | X | 0.99959200326397 | 1 | 2451 | 49689923 |
| 739 | FGD1 | X | 0.9954954954955 | 13 | 2886 | 54494254-54494262, 54497092-54497095 |
| 740 | AR | X | 0.9895041621426 | 29 | 2763 | 66765158-66765165, 66765207-66765219, 66766191-66766198 |
| 741 | TAF1 | X | 0.98697641675466 | 74 | 5682 | 70586192-70586241, 70586250-70586259, 70586290-70586295, 70586320-70586327 |
| 742 | SLC16A2 | X | 0.99782844733985 | 4 | 1842 | 73641403-73641406 |
| 743 | ATP7A | X | 0.99866755496336 | 6 | 4503 | 77276494-77276499 |
| 744 | BRWD3 | X | 0.99963024588649 | 2 | 5409 | 80064969-80064970 |
| 745 | PCDH19 | X | 0.99546279491833 | 15 | 3306 | 99663355-99663364, 99663560, 99663570-99663573 |
| 746 | TIMM8A | X | 0.91836734693878 | 24 | 294 | 100603539-100603562 |
| 747 | BTK | X | 0.9969696969697 | 6 | 1980 | 100613381-100613386 |
| 748 | CUL4B | X | 0.99963530269876 | 1 | 2742 | 119694341 |
| 749 | XIAP | X | 0.99531459170013 | 7 | 1494 | 123019596-123019601, 123040948 |
| 750 | ZIC3 | X | 0.99786324786325 | 3 | 1404 | 136648985-136648987 |
| 751 | SOX3 | X | 0.98061148396719 | 26 | 1341 | 139586149-139586152, 139586479-139586500 |
| 752 | AFF2 | X | 0.99822154471545 | 7 | 3936 | 147582629-147582635 |
| 753 | NSDHL | X | 0.99376114081996 | 7 | 1122 | 152037394-152037400 |
| 754 | FAM58A | X | 0.88299319727891 | 86 | 735 | 152858073-152858078, 152864440-152864480, 152864483-152864521 |
| 755 | SLC6A8 | X | 0.7793501048218 | 421 | 1908 | 152954030-152954281, 152954289-152954291, 152956788-152956794, 152956880-152956881, 152957503, 152957506, 152958539-152958551, 152959360-152959378, 152959458-152959468, 152959711-152959717, 152959720, 152959846-152959869, 152959988-152959990, 152960066-152960079, 152960203, 152960249-152960258, 152960262-152960267, 152960313-152960344, 152960560-152960566, 152960631-152960637 |
| 756 | ABCD1 | X | 0.7153708668454 | 637 | 2238 | 152990730-152990743, 152990768-152990806, 152990829-152990844, 152990856, 152990860-152990910, 152990913-152990915, 152990953-152991028, 152991052-152991080, 152991102-152991107, 152991122, 152991139-152991191, 152991238-152991264, 152991290-152991315, 152991386-152991389, 152991444-152991489, 152991541-152991576, 153001566, 153001603-153001609, 153001657-153001660, 153001663, 153001818, 153001823, 153002633-153002664, 153008455-153008486, 153008675-153008678, 153008743-153008749, 153008785-153008791, 153008943-153008949, 153008981-153008987, 153009035-153009041, 153009044, 153009053-153009059, 153009079-153009155, 153009178, 153009185-153009189 |
| 757 | L1CAM | X | 0.99496555378908 | 19 | 3774 | 153132899, 153135543-153135546, 153135867, 153136524-153136536 |
| 758 | AVPR2 | X | 0.98924731182796 | 12 | 1116 | 153171746-153171757 |
| 759 | MECP2 | X | 0.94188376753507 | 87 | 1497 | 153296200-153296206, 153297806-153297810, 153297867-153297879, 153363061-153363122 |
| 760 | OPN1LW | X | 0.98264840182648 | 19 | 1095 | 153418521-153418538, 153421786 |
| 761 | OPN1MW | X | 0.95799086757991 | 46 | 1095 | 153455651-153455674, 153458985-153459006 |
| 762 | OPN1MW | X | 0.96438356164384 | 39 | 1095 | 153492769-153492786, 153496097-153496117 |
| 763 | FLNA | X | 0.83345921450151 | 1323 | 7944 | 153577401-153577404, 153577766-153577773, 153577811-153577830, 153577919-153577921, 153579345, 153579348, 153580584, 153580636, 153580958, 153581193, 153581425, 153581479, 153581490-153581492, 153581498, 153581502-153581510, 153581724, 153581730, 153581742-153581756, 153581793, 153582061, 153582084, 153582559-153582580, 153582627, 153582635, 153583030-153583078, 153583316-153583345, 153583356, 153585815-153585833, 153586567-153586584, 153586619-153586626, 153586815-153586843, 153587398-153587406, 153587508, 153587647-153587675, 153587690-153587716, 153587726, 153587731, 153587736-153587754, 153587759, 153587898-153587901, 153587904-153587909, 153587939-153587947, 153587971-153587975, 153587978, 153587983, 153588008, 153588100-153588141, 153588177-153588193, 153588206-153588213, 153588242-153588273, 153588394-153588405, 153588411-153588412, 153588417, 153588457-153588484, 153588550-153588551, 153588556-153588561, 153588593-153588609, 153588649-153588651, 153588657-153588664, 153588675, 153588869, 153588875, 153588898-153588935, 153588940-153588955, 153589721-153589786, 153589796, 153589799, 153589831, 153589838-153589848, 153590048-153590066, 153590154, 153590362, 153590414, 153590438-153590441, 153590508-153590516, 153590795-153590797, 153590800, 153590803, 153590828, 153590838, 153590891, 153590906, 153590932-153590946, 153591029-153591059, 153591083-153591084, 153592514, 153592917-153592946, 153592971, 153592976-153592979, 153592997, 153593023, 153593203-153593240, 153593512-153593514, 153593532-153593573, 153593625-153593627, 153593781-153593785, 153594409-153594423, 153594441-153594443, 153594478, 153594488, 153594491, 153594514, 153594577, 153594581-153594583, 153594708-153594714, 153594819, 153594943-153594957, 153595118, 153595208-153595209, 153595783, 153595788, 153595814, 153595834-153595849, 153596016-153596056, 153596090-153596096, 153596210-153596270, 153596348-153596356, 153596451-153596458, 153599259-153599261, 153599278-153599316, 153599388-153599436, 153599442-153599474, 153599501, 153599518-153599613 |
| 764 | EMD | X | 0.75032679738562 | 191 | 765 | 153607857-153607874, 153607887-153607926, 153608055-153608106, 153608138-153608154, 153608313-153608315, 153608324, 153608343-153608345, 153608612-153608641, 153608703, 153609134-153609156, 153609431, 153609513, 153609552 |
| 765 | TAZ | X | 0.84030418250951 | 126 | 789 | 153640181-153640192, 153640198-153640227, 153640238-153640283, 153640429, 153640433-153640442, 153640502-153640510, 153640522-153640530, 153641552, 153641864-153641871 |
| 766 | GDI1 | X | 0.99627976190476 | 5 | 1344 | 153665630-153665634 |
| 767 | G6PD | X | 0.96520146520147 | 57 | 1638 | 153760256, 153760601-153760620, 153760868, 153760923-153760929, 153761205, 153761284-153761293, 153762692-153762695, 153762709, 153774267, 153775072-153775082 |
| 768 | IKBKG | X | 0.99795081967213 | 3 | 1464 | 153780346, 153784381-153784382 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 3 | COL4A1-Q1334H | het unknown | 0.325 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | DRD2-S311C | het unknown | 0.017 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.799 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 2.5 | GJB2-R184P | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 2 | RNASEL-D541E | homozygous | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | RNASEL-R462Q | homozygous | 0.278 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests |
| 2 | RNASEL-R412G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2 | SLC29A3-R18G | homozygous | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | SLC29A3-I99M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2 | SLC29A3-S158F | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | SLC29A3-V239I | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | SLC29A3-I326V | het unknown | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | SLC29A3-G437R | het unknown | 0.000 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | C3-P314L | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | C3-R102G | het unknown | 0.152 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | ALAD-K59N | het unknown | 0.059 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.888 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PAX8-F329L | het unknown | 0.020 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.018 (benign), Testable gene in GeneTests |
| 2 | APOB-S4338N | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-T98I | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.625 | SERPINA1-E366K | het unknown | 0.012 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.625 | SERPINA1-V237A | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | CHRNA5-D398N | homozygous | 0.249 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1.5 | CILP-G1166S | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-I395T | homozygous | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | COMT-V158M | homozygous | 0.448 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | PRNP-M129V | het unknown | 0.340 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | CETP-A390P | het unknown | 0.039 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests |
| 1.5 | CETP-V422I | het unknown | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.5 | CETP-R468Q | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 1.25 | MTRR-I49M | het unknown | 0.451 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.25 | MTRR-S284T | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.25 | MTRR-R442C | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.25 | MTRR-P477R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DFNB59-Y89C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | DFNB59-R265G | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.645 (possibly damaging), Testable gene in GeneTests |
| 1 | TTN-V32278L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V25867I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K12568N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-K11752E | homozygous | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S3419N | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-M523T | homozygous | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-L425S | het unknown | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-G299R | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-W112R | het unknown | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP100-V399Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SP100-M433V | het unknown | 0.247 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 1 | SP100-A796T | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SP100-M826T | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q2781H | het unknown | 0.737 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-HR2748QH | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | HRNR-Y2746H | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-L2688S | homozygous | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S1515G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S799T | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G492R | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-M1Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DEFB126-Q55Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DEFB126-P106Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SHE-I241Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CYP1B1-N453S | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-V432L | homozygous | 0.445 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DPYD-R29C | homozygous | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TYR-R402Q | het unknown | 0.205 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AX746903-Q107R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ADRB2-G16R | het unknown | 0.413 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | ADRB2-E27Q | homozygous | 0.661 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | HLA-L-H17R | homozygous | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HLA-L-I30V | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HLA-L-R38Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HLA-L-A142V | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HLA-L-W144* | homozygous | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 1 | HLA-L-C172Y | homozygous | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CNGA1-S3F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | RYK-L17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PADI6-L37F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | KIAA1671-P205T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) | |
| 1 | KIAA1671-K439R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.872 (probably damaging) | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-M356I | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | het unknown | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CYP2B6-Q172H | het unknown | 0.292 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 1 | CYP2B6-K262R | homozygous | 0.043 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | homozygous | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-P250S | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 1 | MS4A14-G584R | homozygous | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | KCNJ11-V337I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ11-K23E | het unknown | 0.738 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ARMS2-R38* | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 1 | ARMS2-A69S | het unknown | 0.207 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CEP290-K838E | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CEP290-D664G | het unknown | 0.009 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TRIM64-I58T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-V68L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRIM64-V238M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | KRAS-I171Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-V1188E | het unknown | 0.062 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-C1515Y | het unknown | 0.096 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT10-G565GGYGGGSSSGG | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KRT10-I101S | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | NPC1-I858V | homozygous | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-M642I | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-H215R | het unknown | 0.296 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ10-R271C | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
| 1 | FCGBP-P4788S | homozygous | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | FCGBP-H3668R | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | FCGBP-S1961P | homozygous | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | SEBOX-L207S | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DUOX2-P982A | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | DUOX2-R701Q | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | DUOX2-H678R | homozygous | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | OR2T11-Q309R | homozygous | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | OR2T11-C119R | homozygous | 0.901 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | OR2T11-S107Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CHIT1-G102S | het unknown | 0.281 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 1 | F5-Q534R | homozygous | 0.978 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PRPS1L1-L145Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-G528S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-E603Q | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | KCP-K395E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ABCA1-K1587R | het unknown | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-V771M | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-R219K | homozygous | 0.393 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TAS2R38-I296V | het unknown | 0.463 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.984 (probably damaging) |
| 1 | TAS2R38-A262V | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 1 | TAS2R38-A49P | het unknown | 0.431 | Unknown benign | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | FANCB-G335E | homozygous | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DGKK-D1111N | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | AKAP10-I646V | het unknown | 0.452 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AKAP10-R249H | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | DYX1C1-E417* | het unknown | 0.201 | Unknown pathogenic | Low clinical importance, uncertain | One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. |
| 0.75 | AURKA-I57V | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-F31I | het unknown | 0.188 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CST3-A25T | het unknown | 0.171 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHAT-A120T | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM67-I604V | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDH15-P1794S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDH15-R934Q | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP4F2-V433M | homozygous | 0.226 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging) |
| 0.5 | CYP4F2-W12G | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | BC112980-K147Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CCDC7-L77Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF224-M118V | homozygous | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ICAM1-P352L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.729 (possibly damaging) |
| 0.5 | ICAM1-K469E | het unknown | 0.349 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NOTCH3-A2223V | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTCHD3-*768Q | homozygous | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-I584M | homozygous | 0.960 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | homozygous | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PRX-G1132R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-I921M | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF844-K226E | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF844-T276A | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF844-A308P | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF844-I642M | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF844-V658I | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | WDR62-L850S | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-Q1310L | het unknown | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-G1375S | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-L1390F | het unknown | 0.749 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PEX2-C184R | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GATAD1-R233W | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CDH23-T53N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CDH23-S494N | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-F3122L | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EPN3-R170H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging) |
| 0.5 | EPN3-P544T | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AP1S2-T35A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AP1S2-R29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SCN4A-N1376D | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL1A1-T1075A | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP2C8-I264M | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.951 (probably damaging) |
| 0.5 | ERBB2-I655V | homozygous | 0.168 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.18 (benign) |
| 0.5 | ERBB2-P1170A | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | TG-S734A | het unknown | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-P1923S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TG-R1999W | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | homozygous | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | JUP-M697L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R2937Q | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R1745H | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COG1-N392S | homozygous | 0.530 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI2-A558T | homozygous | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANXA11-R230C | homozygous | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF532-E761D | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | ERCC2-K751Q | het unknown | 0.319 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO5B-K307N | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-T126A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAMA3-T796N | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-V1206A | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-N2815K | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-V190M | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-K347N | het unknown | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM35A-F132L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM35A-L404Shift | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | BMPR1A-P2T | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KLHL38-C504Y | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KLHL38-R346K | homozygous | 0.765 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KLHL38-I334V | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KLHL38-H98R | homozygous | 0.795 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.5 | EMP3-I125V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.878 (probably damaging) |
| 0.5 | SIX5-V693M | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-P635S | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-L556V | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | USH2A-E3411A | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-Y1992C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | USH2A-R1486K | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-S841Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | USH2A-A125T | homozygous | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-A1041G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GLI2-A1156S | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-D1306N | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSCN-A908T | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | OBSCN-H1158L | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | OBSCN-V1508D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | OBSCN-L2079R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | OBSCN-Q2084Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | OBSCN-D2106E | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | OBSCN-F2116L | homozygous | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.182 (benign) |
| 0.5 | OBSCN-H4381R | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | OBSCN-C4450R | het unknown | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | OBSCN-H4489Q | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.583 (possibly damaging) |
| 0.5 | OBSCN-S4514Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | OBSCN-R4534H | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.515 (possibly damaging) |
| 0.5 | OBSCN-S4642C | het unknown | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.058 (benign) |
| 0.5 | OBSCN-G4666S | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.467 (possibly damaging) |
| 0.5 | OBSCN-D4962G | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.467 (possibly damaging) |
| 0.5 | OBSCN-R5575H | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.276 (possibly damaging) |
| 0.5 | OBSCN-V6310Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MRPS5-R284Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGT-M268T | homozygous | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH6-V141M | homozygous | 0.928 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH6-G1694A | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.026 (benign) |
| 0.5 | DNAH6-Y2119C | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | DNAH6-V2550A | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | DNAH6-K2859R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | EIF2AK3-A704S | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EIF2AK3-Q166R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-N1639S | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-I362V | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTPN14-H360P | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COL3A1-H1353Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL5A2-M361L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LPL-S474* | het unknown | 0.084 | Unknown protective | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRP2-I4210L | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRP2-K4094E | homozygous | 0.799 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-N83S | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | NEB-I6534V | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN1A-A1056T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB11-V444A | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EDARADD-M9I | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTR-D919G | het unknown | 0.217 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDE7A-G50E | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-R190W | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HDAC6-R832H | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDNF-W154S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DMPK-L423V | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC8-K507N | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | CCDC8-D381N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.759 (possibly damaging) |
| 0.5 | MRM1-C120S | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CUBN-L2879I | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-S2717W | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF880-N106Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF880-N140NN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF880-R198S | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-N202H | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-K471R | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SAMD11-P228Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | C2orf71-S1225SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C2orf71-L792V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ALK-D1529E | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-K1491R | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-P157S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ABCG8-Y54C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-V632A | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC3A1-M618I | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | SLC5A6-L573F | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | SLC5A6-S481F | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | OR2G6-K295Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TPO-A373S | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TPO-S398T | homozygous | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.5 | LPIN1-V494M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | RP1-N985Y | homozygous | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.5 | RP1-C2033Y | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | PRKDC-L1243Shift | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | PRKDC-M333I | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SCD-M224L | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO19-N176S | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | RPGRIP1-K192E | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-Q589H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | RPGRIP1-E1033Q | homozygous | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-V1101A | homozygous | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-G56R | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JPH4-A502Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TEP1-C1468Y | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1195P | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1155Q | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F7-KD100NY | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | F7-R391Q | homozygous | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | F7-C406W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-R1840W | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | FREM2-T2189I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | FREM2-T2326I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CD99-M166V | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.194 (benign) |
| 0.5 | CD99-N173I | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | CYSLTR2-M201V | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | ARSE-G424S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK2-R521H | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COCH-T352S | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MLH3-P844L | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSHR-E727D | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GALC-T641A | homozygous | 0.959 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MEN1-T546A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1457Y | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | ZFYVE26-G395V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RDH12-R161Q | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAAT-R20Q | homozygous | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.5 | CPT1A-A275T | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RIN1-A79T | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | SYNE2-M1969T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | BRCA2-N372H | het unknown | 0.237 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA2-V2466A | homozygous | 0.977 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-S978P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-G1405S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DYRK4-N189S | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MLL2-S4010P | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MLL2-R83Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | VDR-M1T | het unknown | 0.676 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | LRRK2-R50H | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-N551K | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-R1398H | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-S1647T | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | homozygous | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T1381A | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | het unknown | 0.503 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GYS2-M363V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | POMT1-R713C | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KIF21A-G614V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | homozygous | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SNX19-L878R | homozygous | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-V361L | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VEZT-V496I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | VEZT-G762D | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DBH-A318S | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DBH-ML449KM | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | IFT81-D134G | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | IFT81-L222V | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | SH2B3-W262R | homozygous | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DFNB31-V783A | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BEST3-Y43H | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DPAGT1-I393V | homozygous | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLL-E502K | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.36 (possibly damaging) |
| 0.5 | KRT5-D197E | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-V1540L | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-R1045T | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-G1022E | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-V819I | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-T245A | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROM1-G118A | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | CNTNAP4-L251V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CNTNAP4-Q713R | het unknown | 0.842 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CNTNAP4-D1082E | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRRC50-D387E | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.951 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L659V | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | OR1E1-A143T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SBF2-Q1216E | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZBED5-I480V | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.494 (possibly damaging) |
| 0.5 | ABCC8-V1572I | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC8-A1369S | het unknown | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL1-V1275I | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NQO1-P187S | homozygous | 0.197 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.215 (possibly damaging) |
| 0.5 | NOB1-Y366F | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.834 (possibly damaging) |
| 0.5 | CTNS-T260I | homozygous | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-A22V | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-A597V | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-Y1215P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DOCK8-A1970P | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | CYP11B2-V386A | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABHD15-R448Q | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ABHD15-T334A | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SSH2-G1398S | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | CR1L-R116G | homozygous | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CR1L-I139V | homozygous | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.089 (benign) |
| 0.5 | CR1L-C207Y | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CR1L-G263V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CR1L-I455V | homozygous | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CR1L-V500I | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | KCNJ12-M71I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) | |
| 0.5 | KCNJ12-I100V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNJ12-R118H | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KCNJ12-E139K | het unknown | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | KCNJ12-T142N | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.722 (possibly damaging) |
| 0.5 | KCNJ12-G145S | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | KCNJ12-A185V | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | KCNJ12-L211F | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.109 (benign) |
| 0.5 | KCNJ12-E239K | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNJ12-E289Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KCNJ12-T290M | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | KCNJ12-V297I | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.427 (possibly damaging) |
| 0.5 | KCNJ12-M302I | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | KCNJ12-E334Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KCNJ12-S343L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.041 (benign) |
| 0.5 | KCNJ12-D402E | het unknown | 0.379 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 0.5 | KCNJ12-S405I | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.101 (benign) |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-S68P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | MAP2K3-A84T | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-T222M | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.815 (possibly damaging) |
| 0.5 | FOXH1-D328E | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | MYH13-R1822W | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MYH13-M1071V | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | MAGEB6-R98H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.766 (possibly damaging) |
| 0.5 | MAGEB6-A100V | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign) |
| 0.5 | COL17A1-D1370G | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SH2B1-T484A | homozygous | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA0556-A1267T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA0556-E1426K | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRPM6-K1584E | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRPM6-V1393I | homozygous | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GATM-Q110H | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VPS13A-V898A | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TJP1-I790V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | TJP1-R319W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AVEN-G234W | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | VPS37C-L198S | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VPS37C-T8N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTPMT1-A5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PTPMT1-L11Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FAM201A-Q115* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | LITAF-I92V | homozygous | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH11-V1296A | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | homozygous | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDILT-G529E | het unknown | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDILT-R527K | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDILT-P415S | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PDILT-A26T | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABAT-Q56R | homozygous | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RNF151-V66I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AKAP13-G191R | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | AKAP13-M452T | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.038 (benign) |
| 0.5 | AKAP13-W494R | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP13-R574C | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | AKAP13-G624V | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | AKAP13-V845A | het unknown | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP13-V897M | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.264 (possibly damaging) |
| 0.5 | AKAP13-P1062A | het unknown | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging) |
| 0.5 | AKAP13-D1086N | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP13-M1216T | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP13-G2461S | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC6A5-G102S | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BLM-P868L | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BLM-V1321I | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN9A-W1150R | homozygous | 0.878 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN9A-P610T | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HADH-L86P | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPINK5-Q267R | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-A335V | homozygous | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-S368N | homozygous | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-K420E | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-R711Q | homozygous | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ACHE-H353N | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SYDE2-V1157I | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYDE2-V569I | homozygous | 0.984 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYDE2-S422L | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | YIPF5-A76V | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GFI1-S36N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DBT-S384G | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGL-P1067S | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_027127-W61* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | PCDHB6-V446A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB6-A543V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PCDHB6-E621G | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PCDHB6-H636Q | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.393 (possibly damaging) |
| 0.5 | PCDHB6-L684F | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | PCDHB6-G776D | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC26A2-I574T | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-T689S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GM2A-I59V | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GM2A-M69V | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GRM6-Q59P | homozygous | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BPHL-L276S | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | F13A1-E652Q | homozygous | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | F13A1-P565L | homozygous | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F12-A207P | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SGCD-R96Q | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZAN-L1698P | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-A1873E | het unknown | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-W1883* | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ZAN-R1922C | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-R1922H | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-F1968L | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-S2034T | het unknown | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-N2072S | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-S2204N | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ZAN-F2344Shift | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | ZAN-W2429R | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-A2510V | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-G2669A | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MSX2-M129T | homozygous | 0.753 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG6-S306F | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSD17B4-R106H | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HSD17B4-I559V | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.5 | APC-V1822D | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WWC2-R979C | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | GSTM1-K173N | het unknown | 0.264 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FSTL5-G193E | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NR3C2-V180I | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CFI-T300A | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTGFRN-S277T | homozygous | 0.657 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTGFRN-R430Q | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.869 (probably damaging) |
| 0.5 | PTGFRN-V837I | het unknown | 0.396 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RELN-S630R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.65 (possibly damaging), Testable gene in GeneTests |
| 0.5 | FAT4-Q453L | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | FAT4-A807V | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.799 (possibly damaging) |
| 0.5 | FAT4-Q1257E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
| 0.5 | FAT4-G3524D | homozygous | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | FAT4-S3873N | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SERPINE1-A15T | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | CASP8-K14R | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | VCAN-G428D | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-K1516R | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-R1826H | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-F2301Y | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-D2937Y | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L1093F | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-Y1170C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GPR98-V1951I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N1985D | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L2004F | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-G3248D | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | homozygous | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | homozygous | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCSK1-S690T | het unknown | 0.235 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | PCSK1-Q665E | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AP3B1-V585E | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HMGCR-I638V | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | AMACR-E277K | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-L201S | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-G175D | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-V9M | homozygous | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-I66T | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | het unknown | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-I356V | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FAM169A-E511K | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | LRP8-R952Q | homozygous | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRP8-T805S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF204P-W209* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ZNF204P-K6Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | COL1A2-P549A | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-E34L | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T400I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A568T | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-D1640G | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V2525I | het unknown | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH11-N2641S | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.718 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNA5-V207M | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests |
| 0.5 | THSD7A-R841H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | THSD7A-N583D | homozygous | 0.823 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EIF4G3-P496A | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | HIVEP2-L1538P | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HIVEP2-Y1242C | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | AKAP12-K117E | homozygous | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP12-K216Q | homozygous | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP12-S887C | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.883 (probably damaging) |
| 0.5 | AKAP12-E1531EE | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AKAP12-E1600D | homozygous | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SYNE1-F7302V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L5015M | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | homozygous | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-A2795V | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-V1035A | het unknown | 0.534 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALDH4A1-T473A | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.767 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ALDH4A1-P16L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FKBP9-V314M | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | POR-A503V | het unknown | 0.234 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB1-S893A | homozygous | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP9-M463I | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-K2484R | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-N2792S | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-P2979S | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPATA21-V255L | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPATA21-P119L | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TXNDC3-C208R | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_024390-W43* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | NR_024390-A104P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GLI3-S1028I | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI3-T183A | het unknown | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROCC-E1037Q | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | CROCC-T1072M | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | WISP3-P44L | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WISP3-P49T | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WISP3-Q74H | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SEPN1-C108Y | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPN1-N467K | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-L8M | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-C34Y | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-F41S | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-E63G | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-AWR68VW* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-R87T | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M89I | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-IM98SL | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Y103S | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-T130I | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q152H | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-F179L | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-D184E | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-I186S | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q198K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-M230V | het unknown | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q241R | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-Y62S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQB1-T60S | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-E276K | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH4-G1800E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NOTCH4-G835V | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | TNXB-G3212V | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R1414Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF323-R222Q | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ZNF323-K205R | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF323-T50S | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP3A7-R409T | homozygous | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-A47T | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MICA-Y59C | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-E148K | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-E196K | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-S229G | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R233W | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MICA-I236T | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-T238S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R274Q | het unknown | 0.478 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | CPT2-V368I | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPT2-M647V | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-K261N | homozygous | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPATA6-C478Y | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SPATA6-E228K | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | EPB41-V214I | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | RARS2-I331V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SIM1-A371V | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SIM1-P352T | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests |
| 0.5 | AIM1-C491R | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | AIM1-E1196A | homozygous | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | AIM1-L1235P | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.919 (probably damaging) |
| 0.5 | EYS-L1419S | het unknown | 0.759 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L852P | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-E641V | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-T120M | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KIAA1586-F75L | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 0.5 | PRPH2-D338G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUL7-Q813R | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMGNT1-M623V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PKHD1-Q4048R | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-I2806V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1709F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKHD1-A1262V | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I4450V | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | homozygous | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-Q1172K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH5-I766L | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NDUFS2-P352A | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | GBE1-T507A | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-I334V | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARL13B-T348S | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARL13B-P396A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | XCL2-R29K | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | XCL2-H28D | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | PER2-G1244E | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PER2-V903I | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
| 0.5 | HACL1-I151F | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | SPAG17-R143Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | MCPH1-R171S | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R304I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | het unknown | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-T682N | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MINA-A386T | het unknown | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MINA-P140L | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NES-P1275L | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NES-R1133S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | NES-P1101L | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | DRD3-G9S | homozygous | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HGD-Q80H | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-D326Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPNE1-A402Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CPNE1-P347R | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging) |
| 0.5 | CPNE1-Q211R | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_015394-G45W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-F74S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | COL6A3-A3012P | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | het unknown | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-P2218L | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-H402Y | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-E936D | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABI3BP-E314K | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | FERMT1-R526K | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FERMT1-R255C | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | FERMT1-I160T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | TOR1AIP1-M146T | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TOR1AIP1-P276R | het unknown | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | TOR1AIP1-Q293H | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.874 (probably damaging) |
| 0.5 | SALL4-L507R | het unknown | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCK1-V184L | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK1-I267V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests |
| 0.5 | CLCN1-G118W | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | B4GALT5-G61S | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.303 (possibly damaging) |
| 0.5 | WFDC3-R63L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | WFDC3-H36D | homozygous | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.207 (possibly damaging) |
| 0.5 | GTSF1L-L56V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | PIGT-D257A | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | GDF5-S276A | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HMCN1-A1247V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HMCN1-I2418T | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-E2893G | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
| 0.5 | LHX4-N328S | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PNPLA3-I148M | homozygous | 0.196 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.5 | PNPLA3-K434E | homozygous | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLC1-C171F | homozygous | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-Q620H | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GGT1-G84S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | SEC23B-V426I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SEC23B-H489Q | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | COL6A2-S399N | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRSS1-K170E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NAT2-I114T | homozygous | 0.398 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RGS12-M277L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.073 (benign) |
| 0.5 | RGS12-R633Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | WFS1-V333I | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-R611H | homozygous | 0.400 | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TLR1-S602I | homozygous | 0.485 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TLR1-N248S | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | EVC-Y258H | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | het unknown | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC41A3-L501Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC41A3-T62A | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CXCR1-R335C | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CXCR1-M31R | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ASPM-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S1189F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LYAR-H265R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LYAR-D151N | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.45 (possibly damaging) |
| 0.5 | ABCA12-S777T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-L1800S | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-L458H | het unknown | 0.273 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-G258D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM72B-I122V | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FAM72B-W125R | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.965 (probably damaging) |
| 0.5 | SLC35A2-P15T | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | UGT2A1-Y192* | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | UGT2A1-R75K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGT2B7-Y268H | homozygous | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TLR6-S249P | homozygous | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLL5-G999C | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | MLL5-L1404I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NUDT17-C300Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NUDT17-C300Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CYTL1-R136C | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | RPTN-E707G | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.426 (possibly damaging) |
| 0.5 | RPTN-K163R | homozygous | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | RPTN-S161P | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.743 (possibly damaging) |
| 0.5 | RPTN-G159S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | RPTN-R154G | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MED12L-D610Y | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | MED12L-R1210Q | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.5 | MCCC1-H464P | homozygous | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FLG-R3738H | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-V3179G | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E2652D | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-L2481S | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S2366T | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E2297D | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H1961Q | het unknown | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1684H | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S1482Y | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1376G | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1360H | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-A1167G | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-P478S | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G444R | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G332V | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-I1091M | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-S1400P | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | homozygous | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R1767Q | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | het unknown | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPEG-R966Q | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SPEG-P2189L | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPEG-R2790G | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPEG-H3079R | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATP7A-V767L | het unknown | 0.254 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | STK36-K295R | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.5 | STK36-R477W | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | STK36-R583Q | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.892 (probably damaging) |
| 0.5 | STK36-G1003D | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.061 (benign) |
| 0.5 | STK36-R1112Q | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.124 (benign) |
| 0.5 | CLDN16-R55Shift | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | ZNF687-G259E | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF687-G636S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | CPN2-V536M | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
| 0.5 | CPN2-Q509R | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CPN2-A305T | homozygous | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.375 | KRT14-G68S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | KRT14-C63Y | het unknown | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | B3GALTL-V245M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | B3GALTL-E370K | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | BBS12-R386Q | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | BBS12-V500A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | IL12RB1-M365T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | IL12RB1-R283Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | MYO15A-A595T | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | MYO15A-A597G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | MYO15A-C1977R | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | MYO15A-Y2682F | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | RAI1-G90A | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | RAI1-D1885N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | HYLS1-C31R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0.25 | F9-T194A | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HSPG2-L4242Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.25 | HSPG2-N765S | homozygous | 0.933 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-M638V | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LEFTY1-D322A | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LEFTY1-R33* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | LAMB3-M852L | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DLAT-A43V | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DLAT-V318A | het unknown | 0.502 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DLAT-D451N | het unknown | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PRG4-R180W | het unknown | 0.299 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | PRG4-K205Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PRG4-T604A | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRG4-C746S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PINK1-N521T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PAEP-W79* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | PAEP-Q126K | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.25 | DYNC2H1-E102Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | DYNC2H1-K1413R | homozygous | 0.679 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.063 (benign), Testable gene in GeneTests |
| 0.25 | DYNC2H1-R2871Q | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DYNC2H1-A3687V | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC16A2-S107P | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-L16S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-S1666C | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCA4-S2255I | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ABCA4-H423R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | USH1C-E819D | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ANKRD30A-E110* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ANKRD30A-E544G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ANKRD30A-N547V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ANKRD30A-T590I | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ANKRD30A-K861N | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANKRD30A-V912I | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANKRD30A-R929C | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.385 (possibly damaging) |
| 0.25 | MYO3A-R319H | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-I348V | het unknown | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-V369I | het unknown | 0.661 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-S956N | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-T1284S | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | MYO3A-R1313S | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GBA-K144R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GBA-R140W | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HTR2C-C23S | het unknown | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | BCL9-P517Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | BCL9-P671S | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CASQ2-T66A | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LIPA-G23R | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NGF-A35V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.25 | PTPN22-W620R | het unknown | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | COL11A1-S1547P | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-P1335L | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-G355R | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-W38R | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PIGK-R54* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | PIGK-T16A | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | RAG1-H249R | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RAG1-K820R | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests |
| 0.25 | FAAH-P129T | het unknown | 0.256 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | RYR2-Q2958R | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IGHMBP2-L201S | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IGHMBP2-R694W | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KCNQ4-H455Q | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GNPAT-D519G | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0.25 | COL9A2-Q326R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | OR2T29-Q18R | het unknown | 0.587 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | OR2T29-Q18R | het unknown | 0.587 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | FMO2-D36G | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-R174H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FMO2-S195L | het unknown | 0.384 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | C10orf113-D100H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-R62G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CTH-S403I | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ATRX-Q929E | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | XIAP-Q423P | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KAL1-V534I | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPING1-V480M | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | RAX-D44E | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ANAPC1-A1524P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ANAPC1-R1475* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ANAPC1-H1333R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ANAPC1-H1231R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | IQCB1-C434Y | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | CPOX-N272H | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.037 (benign), Testable gene in GeneTests |
| 0.25 | ATXN7-V862M | het unknown | 0.394 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL7A1-P1277L | het unknown | 0.041 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL7A1-P595L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLNB-D1157N | het unknown | 0.303 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLNB-V1471M | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRH-L8V | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.553 (possibly damaging) |
| 0.25 | TRH-A107Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TMEM22-G65Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TMEM22-K400R | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B15-K523T | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B15-Y85D | het unknown | 0.508 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MTTP-I128T | het unknown | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MTTP-V251L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | OPA1-S158N | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLCN2-T668S | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLD1-A622S | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2B5-I587V | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP6V0A4-V2A | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | XPC-Q939K | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASP10-L522I | het unknown | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALS2-V368M | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AOX1-N1135S | het unknown | 0.174 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NEUROD1-T45A | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLCO1B3-S112A | het unknown | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B3-M233I | het unknown | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.25 | SLCO1B3-G256A | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.25 | CHRNA2-T125A | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CTLA4-T17A | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | ATIC-T116S | het unknown | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | TRIOBP-S217N | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRIOBP-S540Del | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-W1377R | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.25 | FANCD2-N405S | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCD2-P714L | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH9-I1626V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KCNE1-S38G | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ASAH1-V246A | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ASAH1-I93V | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LRRFIP1-D740N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LRRFIP1-A741Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LRRFIP1-H783D | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | MANBA-T701M | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MANBA-V253I | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | ANK2-P2835S | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | COL9A1-S339P | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LCA5-L24S | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LMBRD1-D469E | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-I671V | het unknown | 0.608 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-R532H | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KIF6-W719R | het unknown | 0.507 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | PEX6-P939Q | het unknown | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FIG4-V654A | het unknown | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RSPH4A-L589P | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCM2-V120I | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ELN-G422S | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GARS-P42A | het unknown | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HOXA1-R73H | het unknown | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYA4-G277S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLG-D472N | het unknown | 0.261 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HSPA1L-T493M | het unknown | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | ALDH5A1-H180Y | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA2-E534K | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FBN2-V965I | het unknown | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC6A18-C12S | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC6A18-T32I | het unknown | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC6A18-VI61AV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLC6A18-I69Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SLC6A18-P478L | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SDHA-V657I | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests |
| 0.25 | FGA-T331A | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TLR3-L412F | het unknown | 0.213 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | SLC22A4-I306T | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC22A4-L503F | het unknown | 0.304 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | IL13-Q144R | het unknown | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NIPAL4-R213G | het unknown | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPRIN1-S475* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | GPRIN1-SPS73RRC | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TCOF1-P1139R | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SH3TC2-A468S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C5orf20-R117* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C5orf20-N97D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C5orf20-T75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PCDHB10-T213R | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.885 (probably damaging) |
| 0.25 | PCDHB10-R543S | homozygous | 0.441 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCDHB10-EA684Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MERTK-S118N | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-R466K | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-I518V | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TAT-P15S | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | RPAP1-Q825E | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RPAP1-R582G | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | RPAP1-E506K | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.906 (probably damaging) |
| 0.25 | CDAN1-R891C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q596R | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q107L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AHNAK2-P5397A | het unknown | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.149 (benign) |
| 0.25 | AHNAK2-S5185A | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.417 (possibly damaging) |
| 0.25 | AHNAK2-Y5184D | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AHNAK2-G5139E | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.417 (possibly damaging) |
| 0.25 | AHNAK2-P4735H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AHNAK2-T4664A | het unknown | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | AHNAK2-M4536L | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.267 (possibly damaging) |
| 0.25 | AHNAK2-M3961V | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AHNAK2-G3654E | het unknown | 0.587 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.204 (possibly damaging) |
| 0.25 | AHNAK2-S3273G | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.028 (benign) |
| 0.25 | AHNAK2-R2862S | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.25 | AHNAK2-P1562L | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.058 (benign) |
| 0.25 | AHNAK2-S281* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SPATA7-D2N | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIX6-H141N | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | WNK2-H758Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | WNK2-V828M | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPG11-F463S | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS4-I354T | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOD2-P268S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SULT1C4-D5E | het unknown | 0.429 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CD19-L174V | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD19-R514H | het unknown | 0.048 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.944 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AGBL1-Q1010R | homozygous | 0.890 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AGBL1-R1028* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ADAMTSL3-H146R | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.25 | ADAMTSL3-L290V | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL3-V661L | het unknown | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL3-T1660I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC28A1-D521N | het unknown | 0.360 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PAX9-A240P | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IRS2-G1057D | het unknown | 0.233 | Unknown protective | Low clinical importance, uncertain | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). |
| 0.25 | KRT83-H493Y | het unknown | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT83-I279M | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT83-R149C | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT6B-I365V | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6B-N227S | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CELA1-Q243R | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-R44W | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-Q10H | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.463 (possibly damaging) |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LARP4-H701R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LARP4-R710* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SLCO1B1-N130D | het unknown | 0.528 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B1-L643F | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PFKM-R100Q | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | KRT6C-V481I | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6C-R182Q | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-M239K | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC25A15-I254L | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SUCLA2-S199T | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PABPC3-R287G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PABPC3-Q292* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | PABPC3-V293G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PABPC3-E345* | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | SGCG-N287S | het unknown | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ACADS-G209S | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.25 | FKTN-R203Q | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAI1-V335I | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DHODH-K7Q | het unknown | 0.542 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | SHANK1-V1504A | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SHANK1-T531Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CD33-G156Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CD33-G304R | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.84 (possibly damaging) |
| 0.25 | MYH14-P31T | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYH14-G384C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | CD3EAP-Q504K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | DLL3-L218P | het unknown | 0.593 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGB3-T298P | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGB3-C234W | het unknown | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GGH-A31T | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GGH-C6R | het unknown | 0.228 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NLRP7-A481T | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | ATP6V1B1-M1T | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ATP6V1B1-T30I | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MOGS-P293S | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MOGS-D239N | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FSHR-S680N | het unknown | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-A307T | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LHCGR-N312S | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | OTOF-R82C | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GCKR-L446P | het unknown | 0.679 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NPHS1-E117K | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | GAA-H199R | het unknown | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-V780I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-P202L | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-D285N | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-V289A | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-R370W | het unknown | 0.156 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-S447P | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGB3-L59P | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests |
| 0.25 | SUZ12-G48Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SUZ12-GSY50FGG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SUZ12-AA61NP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LRRC48-R191W | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRRC48-LR440RG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LRRC48-R444Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | COX10-R159Q | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TNFRSF13B-P251L | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRIP1-S919P | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C18orf56-H40Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C18orf56-C34F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MAN2B1-L278V | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NM_014727-K376Del | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | NM_014727-R642Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | STXBP2-I526V | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD226-S307G | het unknown | 0.451 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FECH-R102Q | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LMAN1-M410L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0 | HFE-H63D | het unknown | 0.110 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0 | H6PD-R453Q | het unknown | 0.309 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,716,869,691 bases (95.9% of callable positions, 89.9% of total positions)
Coding region coverage: 31,157,811 bases (93.8% of all genes, 95.0% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX