Variant report for huEA2AF0
- Data source: huEA2AF0: var-GS000039769-ASM.tsv.bz2
- This report: evidence.pgp-hms.org/genomes?fcda6e7c33f2c642f4422bfb4e99e0bc289b4aae
- Person ID: huEA2AF0
- public profile: my.pgp-hms.org/profile/huEA2AF0
- Download: source data, dbSNP and nsSNP report (114 MB)
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | GPD1L-I124V | High | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.00111545 | Found in a single SIDS case (out of 304 total cases). Although the authors described a functional impact of the variant in cell lines, the findings in human subjects did not have statistical significance and there is currently no clinical testing for variants in this gene. | 1 |
| 2 | COL9A3-R103W | Moderate | Likely | Likely pathogenic Dominant, Heterozygous | 0.0480573 | Carriers of this collagen variant are associated with having a significantly increased risk of lumbar disc disease (~11% total risk compared to a typical risk of 4%). | 1 |
| 3 | PPARG-P12A | Moderate | Uncertain | Uncertain not reviewed Unknown, Heterozygous | 0.0886782 | 1 | |
| 4 | 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 |
| 5 | PIGR-A580V | Low | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.247537 | In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%. | 1 |
| 6 | KRT5-G138E | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0521472 | This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant). | 1 |
| 7 | MBL2-R52C | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.048615 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). | 1 |
| 8 | 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 |
| 9 | RPGRIP1L-A229T | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0561443 | This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare. | 1 |
| 10 | 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 |
| 11 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
| 12 | POLG-Q1236H | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.0581893 | Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants. | 1 |
| 13 | 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 |
| 14 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
| 15 | 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 |
| 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 | 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 |
| 18 | ELAC2-A541T | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.0276074 | This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer". | 1 |
| 19 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
| 20 | CYP2C9-R144C | Moderate | Well-established | Well-established pharmacogenetic Unknown, Heterozygous | 0.0970982 | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. | 1 |
| 21 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
| 22 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 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 |
| 23 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Homozygous | 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 |
| 24 | CFH-V62I | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.391616 | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. | 1 |
| 25 | 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 |
| 26 | IL7R-T244I | Low | Likely | Likely protective Unknown, Heterozygous | 0.210169 | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). | 1 |
| 27 | TYR-R402Q | Low | Well-established | Well-established benign Complex/Other, Homozygous | 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 |
| 28 | OCA2-R419Q | Low | Likely | Likely benign Unknown, Heterozygous | 0.0565161 | This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). | 1 |
| 29 | COL9A2-T246M | Low | Likely | Likely benign Unknown, Heterozygous | 0.0252835 | Probably benign. | 1 |
| 30 | 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 | |
| 31 | COL6A3-E1386K | Low | Likely | Likely benign Unknown, Heterozygous | Reported likely cause for Bethlem Myopathy by a genetics testing lab, but the publication reporting this (Lampe, et al.) reported observations in patients that aren't different from the general allele frequency according to ExAC data (disproving a disease-causing hypothesis). | 1 | |
| 32 | MSH6-V878A | Low | Likely | Likely benign Unknown, Heterozygous | 0.00576315 | In a screen of 288 individuals suspected of having HNPCC, Wu et al. 2001 found this variant in one individual who also had a rare MLH3 variant. The publication was mainly investigating a role for MLH3 (and not this gene), and merely refers to this variant as a MSH6 (without additional evidence). These observations match the variant's general allele frequency: over 1% of individuals are carriers. Although this has been listed in Clinvar as pathogenic, if it caused this disease with high penetrance it would be extremely well-established (since the variant is relatively common). Since this is not the case, that hypothesis is effectively disproven. | 1 |
| 33 | EFHC1-R182H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0439673 | Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism. | 1 |
| 34 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Homozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
| 35 | KEL-T193M | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.0320692 | This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1. | 1 |
| 36 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.255899 | Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations. | 1 |
| 37 | CD19-R514H | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0482432 | Presumed benign. | 1 |
| 38 | 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 |
| 39 | F5-M413T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0580963 | Presumed benign. This variant is not particularly rare and has not been reported to cause disease. | 1 |
| 40 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 41 | THBD-A473V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.140387 | While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well. | 1 |
| 42 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 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 |
| 43 | GUCY2D-A52S | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.21016 | One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect. | 1 |
| 44 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 45 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
| 46 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32005556 / 33282720 = 96.16%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.45210166177908 | 3363 | 6138 | 955553-955753, 957588-957721, 957728-957836, 970657-970704, 976045-976131, 976144-976260, 976553-976700, 976710-976777, 976867, 976873-976880, 976883-976896, 976907-976925, 976950, 976955-976957, 976960-976990, 976996-977042, 977058-977082, 977370-977407, 977418-977449, 977472-977481, 977486, 977491-977523, 977539-977542, 978619-978633, 978710, 978720, 978737-978748, 978774-978784, 978940-978973, 979010-979037, 979045-979058, 979061-979064, 979070-979074, 979079-979091, 979203-979217, 979246, 979273-979314, 979368-979401, 979489-979490, 979505, 979537-979573, 979782-979797, 980549-980550, 980553-980560, 980577, 980597-980630, 980655, 980800, 980812-980816, 980830, 980877-980885, 981163, 981208, 981247, 981354-981379, 981547-981573, 981597-981617, 981777-982039, 982200-982243, 982257-982262, 982283, 982288, 982293, 982307-982310, 982321-982323, 982736-982757, 982785, 982799, 982804-982809, 982832-982834, 982953-982967, 982991-983001, 983017, 983066-983067, 983174-983195, 983222-983245, 983392-983537, 983547-983745, 984247-984343, 984359-984439, 984616-984733, 984743-984772, 984948-984955, 984976-985007, 985055-985088, 985107-985108, 985111-985113, 985116-985126, 985135-985170, 985285-985288, 985313-985374, 985397, 985416, 985613, 985660, 985663, 985688, 985809, 985877, 985906, 985961, 985965-985970, 986106-986128, 986132, 986174-986205, 986633-986749, 986833-986881, 986923-986945, 986952-986978, 987020-987025, 987120, 987131, 987161-987172, 989209-989233, 989244, 989334, 989341, 989857-989864, 989892-989905, 990238-990283, 990290-990293, 990304-990360 |
| 2 | GABRD | 1 | 0.6401766004415 | 489 | 1359 | 1950863-1950930, 1956957-1956960, 1957028-1957051, 1957071-1957116, 1959625-1959636, 1959707-1959720, 1960552, 1960579, 1960584, 1960589, 1960603-1960657, 1960666-1960688, 1960990-1961000, 1961009-1961047, 1961069-1961090, 1961130-1961131, 1961167-1961196, 1961422-1961436, 1961457-1961494, 1961510-1961515, 1961615-1961686, 1961706-1961708, 1961712 |
| 3 | PEX10 | 1 | 0.76758409785933 | 228 | 981 | 2337923-2337966, 2338159-2338185, 2338229, 2338261-2338263, 2338266-2338279, 2339998-2340038, 2340190-2340192, 2340200, 2340270, 2343830-2343912, 2343932-2343941 |
| 4 | NPHP4 | 1 | 0.95818733940668 | 179 | 4281 | 5923969-5923975, 5923978, 5935045, 6038330-6038473, 6046222, 6046239-6046242, 6046253-6046264, 6046269, 6046334-6046337, 6046341-6046344 |
| 5 | ESPN | 1 | 0.67407407407407 | 836 | 2565 | 6485018-6485122, 6485134-6485136, 6485140-6485141, 6485144-6485149, 6485152, 6485185-6485306, 6488304, 6488322, 6488325, 6488333, 6488377-6488392, 6488426-6488432, 6488466-6488467, 6500386-6500393, 6500413-6500460, 6500478-6500488, 6500686-6500690, 6500712, 6500728-6500792, 6500830-6500868, 6501032, 6501097-6501103, 6505726-6505738, 6505776-6505798, 6505814-6505859, 6505872-6505920, 6508701-6508733, 6508760-6508766, 6508824, 6508851-6508889, 6508922-6508928, 6509017-6509060, 6509072-6509106, 6509139-6509151, 6511703-6511709, 6511803, 6511907-6511942, 6512106-6512133, 6517289 |
| 6 | PLEKHG5 | 1 | 0.99498275321417 | 16 | 3189 | 6527904, 6528254, 6529183-6529185, 6533407-6533409, 6534634-6534636, 6535546, 6557380-6557383 |
| 7 | PEX14 | 1 | 0.93915343915344 | 69 | 1134 | 10684428-10684442, 10689882-10689909, 10689999-10690024 |
| 8 | TARDBP | 1 | 0.95180722891566 | 60 | 1245 | 11082243-11082264, 11082356-11082362, 11082527-11082533, 11082582-11082605 |
| 9 | MASP2 | 1 | 0.83745754488113 | 335 | 2061 | 11097759-11097760, 11102959-11102975, 11103038-11103079, 11103443-11103480, 11103500-11103512, 11103522-11103572, 11103578-11103592, 11105474, 11105489-11105511, 11105551-11105552, 11105555, 11105565-11105596, 11106633, 11106653-11106694, 11106738, 11106747-11106771, 11106787, 11107108-11107132, 11107174-11107176 |
| 10 | CLCNKA | 1 | 0.93943798449612 | 125 | 2064 | 16355632, 16356460, 16356475-16356483, 16356525-16356531, 16356963, 16357023-16357076, 16357099-16357104, 16358721-16358734, 16358774-16358780, 16358952-16358968, 16358971, 16360141-16360147 |
| 11 | CLCNKB | 1 | 0.90988372093023 | 186 | 2064 | 16373030-16373050, 16377011-16377030, 16377473-16377489, 16378006-16378011, 16378019-16378020, 16378280, 16378311-16378315, 16378693-16378697, 16378732-16378754, 16378767-16378804, 16378813-16378819, 16378857-16378859, 16378864, 16381930-16381943, 16381989-16381990, 16382170-16382190 |
| 12 | ATP13A2 | 1 | 0.99745977984759 | 9 | 3543 | 17313605-17313613 |
| 13 | ALDH4A1 | 1 | 0.99231678486998 | 13 | 1692 | 19209795-19209801, 19216534-19216539 |
| 14 | PINK1 | 1 | 0.98911798396334 | 19 | 1746 | 20960239-20960257 |
| 15 | HSPG2 | 1 | 0.99385245901639 | 81 | 13176 | 22168070-22168078, 22181419, 22181422-22181427, 22186399, 22199144, 22263648-22263710 |
| 16 | WNT4 | 1 | 0.92518939393939 | 79 | 1056 | 22446589-22446590, 22469339-22469415 |
| 17 | HMGCL | 1 | 0.99897750511247 | 1 | 978 | 24134721 |
| 18 | FUCA1 | 1 | 0.95717344753747 | 60 | 1401 | 24194460, 24194499-24194503, 24194637, 24194675-24194703, 24194737-24194756, 24194773-24194776 |
| 19 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 20 | KCNQ4 | 1 | 0.92337164750958 | 160 | 2088 | 41249766-41249892, 41249915-41249945, 41249972, 41250013 |
| 21 | LEPRE1 | 1 | 0.99457259158752 | 12 | 2211 | 43232400-43232411 |
| 22 | SLC2A1 | 1 | 0.98782961460446 | 18 | 1479 | 43424305-43424322 |
| 23 | DHCR24 | 1 | 0.99806576402321 | 3 | 1551 | 55352785, 55352791-55352792 |
| 24 | PCSK9 | 1 | 0.997113997114 | 6 | 2079 | 55505553-55505558 |
| 25 | COL11A1 | 1 | 0.99450247388675 | 30 | 5457 | 103364258-103364267, 103435786-103435790, 103471847-103471861 |
| 26 | GSTM1 | 1 | 0.34246575342466 | 432 | 657 | 110230496-110230531, 110230792-110230808, 110230829-110230867, 110231296-110231321, 110231688-110231694, 110231709, 110231715, 110231719-110231731, 110231749, 110231852-110231947, 110232893-110232988, 110233076-110233174 |
| 27 | NOTCH2 | 1 | 0.98557173678533 | 107 | 7416 | 120539665-120539714, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120611960, 120611964, 120612003-120612004 |
| 28 | FLG | 1 | 0.97242737567701 | 336 | 12186 | 152276714-152276729, 152278244-152278250, 152278406-152278437, 152279378-152279409, 152279464, 152279950, 152280337-152280356, 152281039, 152281055, 152281350-152281356, 152281540-152281545, 152281596, 152281854-152281880, 152282106-152282147, 152282249-152282251, 152283273, 152284302-152284308, 152284342-152284344, 152284447-152284453, 152284752-152284758, 152284998-152284999, 152285053-152285055, 152285110-152285122, 152285213-152285247, 152285294-152285295, 152285401-152285414, 152285582-152285607, 152286139-152286141, 152286183-152286194, 152286438-152286441 |
| 29 | PKLR | 1 | 0.99884057971014 | 2 | 1725 | 155269991-155269992 |
| 30 | SEMA4A | 1 | 0.99956255468066 | 1 | 2286 | 156131157 |
| 31 | NTRK1 | 1 | 0.99832705980761 | 4 | 2391 | 156830755, 156830800-156830802 |
| 32 | F5 | 1 | 0.9914606741573 | 57 | 6675 | 169510256-169510275, 169510377-169510383, 169510499-169510528 |
| 33 | HMCN1 | 1 | 0.99934942039271 | 11 | 16908 | 185897754, 185953326, 185964172-185964178, 185970484, 185970817 |
| 34 | CFH | 1 | 0.98782467532468 | 45 | 3696 | 196705954-196705955, 196716353-196716395 |
| 35 | CFHR1 | 1 | 0.99899295065458 | 1 | 993 | 196801078 |
| 36 | ASPM | 1 | 0.99971247843588 | 3 | 10434 | 197069742-197069744 |
| 37 | USH2A | 1 | 0.99948747517458 | 8 | 15609 | 216251467-216251474 |
| 38 | ADCK3 | 1 | 0.99691358024691 | 6 | 1944 | 227169788-227169793 |
| 39 | GJC2 | 1 | 0.69848484848485 | 398 | 1320 | 228345500, 228345539-228345561, 228345589-228345596, 228345723-228345729, 228345776-228345797, 228345878-228345893, 228345909-228345937, 228345962-228345975, 228346010-228346016, 228346025-228346067, 228346073-228346075, 228346079, 228346090-228346124, 228346192-228346196, 228346232-228346248, 228346311-228346406, 228346419-228346441, 228346459-228346486, 228346539, 228346581, 228346639, 228346702-228346705, 228346739-228346749, 228346778-228346779 |
| 40 | ACTA1 | 1 | 0.97530864197531 | 28 | 1134 | 229567846, 229568017-229568018, 229568080-229568104 |
| 41 | LYST | 1 | 0.99991232684552 | 1 | 11406 | 235944247 |
| 42 | MTR | 1 | 0.99921011058452 | 3 | 3798 | 237060942-237060944 |
| 43 | RYR2 | 1 | 0.99979871175523 | 3 | 14904 | 237632461-237632463 |
| 44 | DCLRE1C | 10 | 0.999037999038 | 2 | 2079 | 14970039, 14970043 |
| 45 | PTF1A | 10 | 0.73758865248227 | 259 | 987 | 23481460-23481469, 23481518, 23481657-23481681, 23481684-23481686, 23481693, 23481705-23481762, 23481767-23481771, 23481774-23481779, 23481789-23481795, 23481819-23481825, 23481837-23481869, 23481897-23481913, 23481940-23481987, 23482055, 23482110-23482146 |
| 46 | MYO3A | 10 | 0.99814471243043 | 9 | 4851 | 26446241-26446242, 26463225-26463231 |
| 47 | RET | 10 | 0.97638266068759 | 79 | 3345 | 43572707-43572779, 43598049-43598050, 43600516, 43604546-43604548 |
| 48 | ERCC6 | 10 | 0.99776885319054 | 10 | 4482 | 50740665-50740672, 50740876-50740877 |
| 49 | PCDH15 | 10 | 0.99949057564952 | 3 | 5889 | 55587198-55587200 |
| 50 | EGR2 | 10 | 0.9937106918239 | 9 | 1431 | 64573471-64573473, 64573484-64573489 |
| 51 | CDH23 | 10 | 0.99542561654733 | 46 | 10056 | 73442256, 73447451-73447458, 73464757-73464778, 73464873-73464887 |
| 52 | VCL | 10 | 0.99970631424376 | 1 | 3405 | 75802900 |
| 53 | GLUD1 | 10 | 0.9809183064997 | 32 | 1677 | 88836362-88836368, 88854083, 88854382-88854396, 88854480-88854484, 88854495, 88854511, 88854517-88854518 |
| 54 | HPS1 | 10 | 0.98955365622032 | 22 | 2106 | 100177365-100177385, 100189603 |
| 55 | FBXW4 | 10 | 0.99677158999193 | 4 | 1239 | 103454336, 103454358-103454360 |
| 56 | HPS6 | 10 | 0.99183848797251 | 19 | 2328 | 103825387-103825393, 103825431, 103825441-103825446, 103825451-103825453, 103825671-103825672 |
| 57 | HTRA1 | 10 | 0.8038808038808 | 283 | 1443 | 124221169-124221313, 124221352-124221372, 124221381-124221407, 124221420-124221453, 124221458-124221473, 124221477-124221478, 124221480-124221483, 124221510-124221511, 124221569-124221600 |
| 58 | HRAS | 11 | 0.97719298245614 | 13 | 570 | 532700-532702, 532753-532755, 533479, 533938, 534212-534216 |
| 59 | TALDO1 | 11 | 0.94674556213018 | 54 | 1014 | 747504, 747548, 747555, 763344-763346, 763349, 763387-763394, 763405, 763414, 763457, 763500-763515, 763856-763875 |
| 60 | SLC25A22 | 11 | 0.63888888888889 | 351 | 972 | 791944-791964, 791973-792018, 792048, 792051-792055, 792058-792068, 792142-792161, 792195-792202, 792206, 792318, 792353-792382, 792415-792418, 792442-792458, 792570-792579, 792590, 792607-792608, 792616, 792633, 792639-792661, 792685, 792688-792715, 792724, 792874-792899, 792938-792946, 792966-792986, 793574-793577, 793617-793619, 794776-794805, 794877-794901 |
| 61 | PNPLA2 | 11 | 0.86402640264026 | 206 | 1515 | 819719-819726, 819738-819780, 819808-819836, 819864-819898, 821735, 823797-823803, 823806-823809, 823998-824003, 824012-824022, 824375, 824389-824401, 824408, 824425-824426, 824428, 824661, 824667-824680, 824725-824733, 824786-824789, 824837-824852 |
| 62 | CTSD | 11 | 0.83696529459241 | 202 | 1239 | 1774743-1774745, 1774805-1774808, 1774815, 1774856-1774858, 1775036-1775042, 1775054-1775057, 1775224-1775229, 1775244-1775247, 1775251-1775255, 1775259, 1775273-1775281, 1775317-1775319, 1775334-1775368, 1778582-1778588, 1778594, 1778618, 1778716-1778718, 1778776, 1780284-1780286, 1780289-1780297, 1780806-1780812, 1782563-1782579, 1782620-1782626, 1782691, 1785030-1785089 |
| 63 | TNNI2 | 11 | 0.9672131147541 | 18 | 549 | 1861649-1861658, 1861760, 1861874-1861880 |
| 64 | TNNT3 | 11 | 0.17245817245817 | 643 | 777 | 1944117, 1944798-1944802, 1946334-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953701, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955787, 1955797-1955798, 1955810-1955885, 1956059-1956088, 1956105-1956137, 1956143-1956149, 1958193-1958233, 1959668-1959722 |
| 65 | IGF2 | 11 | 0.74402250351617 | 182 | 711 | 2154217-2154222, 2154252-2154281, 2154311-2154334, 2154376-2154381, 2154396-2154421, 2154768-2154776, 2154804-2154833, 2156597-2156606, 2156672, 2156677-2156680, 2156685, 2156721-2156724, 2161365-2161380, 2161393-2161398, 2161442-2161448, 2161508-2161509 |
| 66 | TH | 11 | 0.69904761904762 | 474 | 1575 | 2185478-2185479, 2185558, 2186494-2186498, 2186535-2186565, 2186906, 2186909-2186919, 2186948-2186959, 2186985-2186993, 2187232-2187238, 2187252-2187269, 2187286-2187288, 2187710-2187779, 2187863-2187866, 2187876-2187879, 2187884, 2187890-2187892, 2187930-2187970, 2187976-2187998, 2188117-2188142, 2188170-2188197, 2188216-2188224, 2188238, 2189121-2189136, 2189380-2189388, 2189739-2189754, 2190920-2190936, 2190951, 2190958, 2190961-2190975, 2191018-2191040, 2191049-2191060, 2191087-2191088, 2191947-2191998 |
| 67 | KCNQ1 | 11 | 0.80945347119645 | 387 | 2031 | 2466329-2466714, 2610065 |
| 68 | CDKN1C | 11 | 0.16508937960042 | 794 | 951 | 2905234-2905289, 2905332-2905360, 2905900-2906436, 2906445-2906467, 2906477-2906566, 2906573-2906595, 2906607, 2906628-2906629, 2906636, 2906641-2906647, 2906673-2906682, 2906705-2906719 |
| 69 | SMPD1 | 11 | 0.99683544303797 | 6 | 1896 | 6411931-6411936 |
| 70 | ABCC8 | 11 | 0.99578592498946 | 20 | 4746 | 17498296-17498315 |
| 71 | ANO5 | 11 | 0.99562363238512 | 12 | 2742 | 22277046-22277057 |
| 72 | WT1 | 11 | 0.94723294723295 | 82 | 1554 | 32456587-32456634, 32456645-32456678 |
| 73 | PEX16 | 11 | 0.98559077809798 | 15 | 1041 | 45935455-45935460, 45937376-45937379, 45939281-45939285 |
| 74 | F2 | 11 | 0.99892990904227 | 2 | 1869 | 46750332-46750333 |
| 75 | RAPSN | 11 | 0.98305084745763 | 21 | 1239 | 47459526-47459534, 47469558-47469560, 47469683, 47470374-47470381 |
| 76 | SERPING1 | 11 | 0.99933466400532 | 1 | 1503 | 57381995 |
| 77 | SLC22A12 | 11 | 0.94584837545126 | 90 | 1662 | 64359286, 64359288-64359289, 64360914-64360930, 64361151-64361171, 64366281-64366284, 64366347-64366353, 64367148-64367157, 64367264-64367289, 64367325, 64367849 |
| 78 | PYGM | 11 | 0.96757611704231 | 82 | 2529 | 64518023, 64520606, 64521013, 64521019-64521021, 64521030-64521032, 64521035, 64521077, 64521106, 64521393, 64521409, 64521412-64521421, 64521442, 64521467, 64521496, 64521739-64521771, 64521811, 64522183-64522186, 64527145-64527161 |
| 79 | PC | 11 | 0.99406276505513 | 21 | 3537 | 66633691-66633700, 66638900-66638910 |
| 80 | AIP | 11 | 0.63343403826788 | 364 | 993 | 67256738-67256742, 67256808-67256856, 67256901-67256903, 67256918-67256926, 67257521-67257558, 67257605-67257642, 67257658-67257660, 67257668-67257682, 67257787-67257928, 67258273-67258281, 67258284-67258328, 67258335, 67258346, 67258381, 67258391-67258392, 67258424-67258425, 67258464 |
| 81 | NDUFS8 | 11 | 0.86255924170616 | 87 | 633 | 67799774-67799797, 67800430-67800440, 67800446-67800448, 67800713-67800715, 67803723-67803740, 67803796-67803800, 67803942-67803964 |
| 82 | TCIRG1 | 11 | 0.88688327316486 | 282 | 2493 | 67808742-67808756, 67808796-67808826, 67810183, 67810248-67810256, 67810326-67810330, 67810444-67810465, 67810847-67810855, 67811327-67811374, 67811611-67811612, 67811638-67811640, 67811644-67811649, 67811788-67811809, 67812536-67812546, 67815007-67815012, 67816548-67816551, 67816569-67816578, 67816718-67816761, 67817138-67817139, 67817208-67817225, 67817245-67817255, 67818072-67818074 |
| 83 | LRP5 | 11 | 0.97813531353135 | 106 | 4848 | 68080183-68080273, 68207353-68207361, 68207364, 68207380-68207384 |
| 84 | IGHMBP2 | 11 | 0.98692152917505 | 39 | 2982 | 68671476-68671489, 68682402, 68701347-68701356, 68704348-68704353, 68704517-68704524 |
| 85 | MYO7A | 11 | 0.76549338146811 | 1559 | 6648 | 76883814-76883839, 76883858-76883865, 76883868-76883869, 76883873-76883875, 76883890-76883894, 76885802-76885842, 76885859-76885860, 76885893-76885936, 76886418-76886455, 76886479-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894162, 76894181-76894202, 76895636-76895670, 76895710-76895738, 76895744, 76895747, 76895760, 76900441-76900468, 76901099-76901140, 76901148-76901167, 76901182-76901184, 76901801-76901818, 76901854-76901855, 76903128-76903130, 76903156, 76903264-76903267 |
| 86 | FZD4 | 11 | 0.99690210656753 | 5 | 1614 | 86666099, 86666110-86666111, 86666114-86666115 |
| 87 | DYNC2H1 | 11 | 0.99961375048281 | 5 | 12945 | 103043832-103043836 |
| 88 | ATM | 11 | 0.99978192127358 | 2 | 9171 | 108127046, 108196205 |
| 89 | DLAT | 11 | 0.99948559670782 | 1 | 1944 | 111899600 |
| 90 | APOA1 | 11 | 0.95024875621891 | 40 | 804 | 116706620-116706634, 116706796-116706820 |
| 91 | HMBS | 11 | 0.99907918968692 | 1 | 1086 | 118955760 |
| 92 | WNK1 | 12 | 0.99328577423416 | 48 | 7149 | 862739, 862745-862747, 862840-862848, 862886-862910, 863205-863207, 863210-863212, 863264, 863274, 863312, 994805 |
| 93 | CACNA1C | 12 | 0.99878067367779 | 8 | 6561 | 2794934-2794940, 2800352 |
| 94 | VWF | 12 | 0.99443259891021 | 47 | 8442 | 6058303-6058306, 6131926-6131961, 6132027-6132033 |
| 95 | ATN1 | 12 | 0.99916036943745 | 3 | 3573 | 7045892-7045894 |
| 96 | DNM1L | 12 | 0.99909543193125 | 2 | 2211 | 32866189, 32890813 |
| 97 | PKP2 | 12 | 0.99721559268099 | 7 | 2514 | 33049636-33049642 |
| 98 | LRRK2 | 12 | 0.99920886075949 | 6 | 7584 | 40626185, 40761510-40761514 |
| 99 | COL2A1 | 12 | 0.99932795698925 | 3 | 4464 | 48398065-48398067 |
| 100 | TUBA1A | 12 | 0.87061403508772 | 59 | 456 | 49522210-49522241, 49522264-49522290 |
| 101 | KRT81 | 12 | 0.9729907773386 | 41 | 1518 | 52684021-52684043, 52685176-52685193 |
| 102 | KRT86 | 12 | 0.97741273100616 | 33 | 1461 | 52696901-52696933 |
| 103 | KRT6B | 12 | 0.96342182890855 | 62 | 1695 | 52843632-52843637, 52845397-52845438, 52845571-52845577, 52845798-52845804 |
| 104 | KRT6C | 12 | 0.98702064896755 | 22 | 1695 | 52865295-52865300, 52867094, 52867105, 52867230-52867236, 52867457-52867463 |
| 105 | KRT6A | 12 | 0.99233038348083 | 13 | 1695 | 52884732-52884737, 52886908-52886914 |
| 106 | LEMD3 | 12 | 0.99890350877193 | 3 | 2736 | 65563620-65563622 |
| 107 | CEP290 | 12 | 0.99986559139785 | 1 | 7440 | 88519023 |
| 108 | TRPV4 | 12 | 0.99923547400612 | 2 | 2616 | 110246222-110246223 |
| 109 | ATP2A2 | 12 | 0.99936081815276 | 2 | 3129 | 110780175, 110783887 |
| 110 | ATXN2 | 12 | 0.82191780821918 | 702 | 3942 | 112036593-112036882, 112036888-112036900, 112036906-112037290, 112037298-112037301, 112037308-112037312, 112037314-112037318 |
| 111 | HPD | 12 | 0.99830795262267 | 2 | 1182 | 122295334-122295335 |
| 112 | PUS1 | 12 | 0.96806853582555 | 41 | 1284 | 132414273-132414281, 132414285-132414291, 132414473-132414486, 132414516-132414518, 132414521-132414522, 132414525, 132414617-132414620, 132426422 |
| 113 | SACS | 13 | 0.99941775836972 | 8 | 13740 | 23912873-23912880 |
| 114 | B3GALTL | 13 | 0.97728790915164 | 34 | 1497 | 31774222-31774223, 31774254-31774285 |
| 115 | FREM2 | 13 | 0.99968454258675 | 3 | 9510 | 39261679-39261680, 39261923 |
| 116 | SUCLA2 | 13 | 0.9992816091954 | 1 | 1392 | 48528294 |
| 117 | ZIC2 | 13 | 0.90056285178236 | 159 | 1599 | 100634398-100634407, 100634526, 100634592-100634605, 100635008-100635010, 100637699-100637719, 100637723, 100637729, 100637755-100637769, 100637791-100637807, 100637810, 100637813-100637817, 100637822-100637890, 100637910 |
| 118 | PCCA | 13 | 0.99314128943759 | 15 | 2187 | 100741445-100741454, 101101535, 101101538-101101541 |
| 119 | COL4A1 | 13 | 0.99900199600798 | 5 | 5010 | 110864265, 110959356-110959359 |
| 120 | F7 | 13 | 0.39176029962547 | 812 | 1335 | 113760156-113760219, 113765013, 113765019-113765100, 113765106-113765139, 113765160-113765164, 113768164, 113768173, 113768194, 113768201, 113768208-113768226, 113768238, 113768244, 113769974-113769990, 113770018-113770025, 113770029-113770033, 113770036-113770104, 113771082, 113771148-113771187, 113771853, 113771903-113771910, 113772727-113772760, 113772769-113772774, 113772784-113772790, 113772798-113772820, 113772831-113772835, 113772842-113772867, 113772889, 113772900-113772977, 113772981, 113773002-113773099, 113773124-113773126, 113773129-113773231, 113773242, 113773248, 113773258-113773322 |
| 121 | F10 | 13 | 0.89706884798909 | 151 | 1467 | 113777170-113777180, 113777186, 113777205-113777239, 113798226-113798232, 113798264, 113798268-113798272, 113798328-113798334, 113798374-113798376, 113803271, 113803314-113803355, 113803398-113803399, 113803424, 113803485, 113803494, 113803594, 113803660-113803670, 113803676, 113803785-113803803, 113803823 |
| 122 | GRK1 | 13 | 0.96040189125296 | 67 | 1692 | 114321777-114321787, 114321845, 114321928-114321933, 114322042-114322054, 114322122-114322125, 114322162, 114324026-114324030, 114325870-114325895 |
| 123 | TEP1 | 14 | 0.99797057331304 | 16 | 7884 | 20851762-20851777 |
| 124 | RPGRIP1 | 14 | 0.999740999741 | 1 | 3861 | 21775917 |
| 125 | PABPN1 | 14 | 0.94245385450597 | 53 | 921 | 23790681-23790686, 23790899, 23790903-23790911, 23790915, 23790950-23790985 |
| 126 | NRL | 14 | 0.99859943977591 | 1 | 714 | 24550596 |
| 127 | FOXG1 | 14 | 0.7578231292517 | 356 | 1470 | 29236528-29236551, 29236554-29236555, 29236585-29236609, 29236620-29236736, 29236743-29236821, 29236832-29236939, 29236952 |
| 128 | CFL2 | 14 | 0.99600798403194 | 2 | 501 | 35182282-35182283 |
| 129 | NKX2-1 | 14 | 0.98922056384743 | 13 | 1206 | 36988372-36988384 |
| 130 | FANCM | 14 | 0.99967463803481 | 2 | 6147 | 45618098, 45652989 |
| 131 | C14orf104 | 14 | 0.97971360381862 | 51 | 2514 | 50100631, 50101091-50101103, 50101350-50101360, 50101563-50101582, 50101626-50101631 |
| 132 | PYGL | 14 | 0.99764150943396 | 6 | 2544 | 51378561, 51379007-51379010, 51379776 |
| 133 | GCH1 | 14 | 0.9136786188579 | 65 | 753 | 55369194-55369208, 55369244-55369279, 55369361-55369374 |
| 134 | VSX2 | 14 | 0.99907918968692 | 1 | 1086 | 74706471 |
| 135 | MLH3 | 14 | 0.99954149472719 | 2 | 4362 | 75506680, 75514323 |
| 136 | POMT2 | 14 | 0.99378606302708 | 14 | 2253 | 77786854-77786857, 77786893-77786898, 77786934-77786937 |
| 137 | ATXN3 | 14 | 0.9963167587477 | 4 | 1086 | 92537314-92537317 |
| 138 | AMN | 14 | 0.096916299559471 | 1230 | 1362 | 103389026-103389068, 103390079, 103390082-103390112, 103390132-103390149, 103390290-103390300, 103394763-103394850, 103395095-103395312, 103395458-103395507, 103395513, 103395517-103395518, 103395533-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396335, 103396343-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017 |
| 139 | INF2 | 14 | 0.8208 | 672 | 3750 | 105167733, 105167825-105167830, 105167953-105167981, 105167986, 105169647-105169661, 105169722-105169739, 105169753-105169762, 105170256-105170274, 105172393-105172402, 105172461-105172463, 105173729-105173744, 105173753, 105173756-105173798, 105173848-105174217, 105174231-105174248, 105174337-105174339, 105174894-105174896, 105174901, 105174905, 105176446, 105176456-105176458, 105176463, 105177449, 105177487-105177521, 105179256-105179265, 105179608-105179623, 105179907-105179943 |
| 140 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 141 | CHST14 | 15 | 0.97435897435897 | 29 | 1131 | 40763469, 40763478-40763492, 40763520-40763531, 40763542 |
| 142 | CDAN1 | 15 | 0.99782844733985 | 8 | 3684 | 43028686, 43028715-43028721 |
| 143 | STRC | 15 | 0.99530780780781 | 25 | 5328 | 43896303-43896312, 43900150-43900156, 43907745-43907751, 43910440 |
| 144 | STRC | 15 | 0.99641025641026 | 7 | 1950 | 44007207-44007213 |
| 145 | SPG11 | 15 | 0.99986361156574 | 1 | 7332 | 44914518 |
| 146 | GATM | 15 | 0.99921383647799 | 1 | 1272 | 45670617 |
| 147 | TPM1 | 15 | 0.99883040935673 | 1 | 855 | 63336018 |
| 148 | MAP2K1 | 15 | 0.99915397631134 | 1 | 1182 | 66679745 |
| 149 | CLN6 | 15 | 0.99358974358974 | 6 | 936 | 68500486-68500491 |
| 150 | HEXA | 15 | 0.98050314465409 | 31 | 1590 | 72668105-72668121, 72668278-72668290, 72668304 |
| 151 | HCN4 | 15 | 0.90531561461794 | 342 | 3612 | 73615165, 73616459-73616465, 73660037-73660044, 73660139-73660140, 73660143-73660169, 73660200-73660203, 73660225-73660343, 73660353-73660394, 73660400-73660425, 73660469-73660471, 73660475, 73660489-73660519, 73660541-73660611 |
| 152 | PSTPIP1 | 15 | 0.23661071143086 | 955 | 1251 | 77310489-77310539, 77310561-77310589, 77310805, 77310812, 77310819-77310855, 77310865-77310872, 77317644-77317659, 77317839-77317864, 77317873-77317910, 77320247-77320255, 77320895, 77320907, 77320910-77320922, 77320934-77320940, 77320949-77320993, 77321875-77321878, 77321906-77321908, 77321911-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324648, 77324652-77324672, 77324694-77324735, 77325203-77325216, 77325222-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 153 | POLG | 15 | 0.99327956989247 | 25 | 3720 | 89876813-89876837 |
| 154 | MESP2 | 15 | 0.92378559463987 | 91 | 1194 | 90319843-90319871, 90320022-90320029, 90320121-90320170, 90320173, 90320231-90320233 |
| 155 | BLM | 15 | 0.99153737658674 | 36 | 4254 | 91337440-91337453, 91337533-91337550, 91337584-91337587 |
| 156 | HBZ | 16 | 0.61305361305361 | 166 | 429 | 203935, 203956-203983, 204019-204042, 204048-204095, 204271-204331, 204371-204374 |
| 157 | HBA2 | 16 | 0.94405594405594 | 24 | 429 | 222924, 222981-223003 |
| 158 | GNPTG | 16 | 0.94117647058824 | 54 | 918 | 1401967, 1401971, 1402003, 1402009, 1402103-1402143, 1402240-1402241, 1402301-1402307 |
| 159 | CLCN7 | 16 | 0.63564929693962 | 881 | 2418 | 1496633-1496668, 1496699, 1497007-1497030, 1497055-1497087, 1497393-1497479, 1497518-1497569, 1497656-1497670, 1497694-1497715, 1498395-1498399, 1498403, 1498413-1498420, 1498435-1498469, 1498484-1498485, 1498687-1498703, 1498751-1498767, 1498983-1499007, 1499086-1499094, 1499279-1499325, 1500499-1500522, 1500545-1500547, 1500552, 1500556-1500560, 1500567-1500573, 1500600-1500618, 1500627-1500667, 1501624-1501658, 1501700-1501705, 1502756-1502792, 1502810, 1502814, 1502838-1502842, 1502851-1502856, 1502864, 1502882, 1502886-1502889, 1503860-1503862, 1503871-1503872, 1504412-1504427, 1504462-1504463, 1505142, 1505163, 1505166-1505181, 1505732-1505736, 1506116, 1506136-1506139, 1506151, 1506153, 1506161-1506169, 1506190, 1507255-1507275, 1507335-1507338, 1509119-1509147, 1509166-1509182, 1515302-1515319, 1524854-1524941, 1524968-1524975 |
| 160 | IGFALS | 16 | 0.55072463768116 | 868 | 1932 | 1840601-1840614, 1840624-1840669, 1840696-1840714, 1840731-1840752, 1840758-1840761, 1840800, 1840836, 1840854, 1840857, 1840884-1840897, 1840900-1840901, 1840939-1840975, 1840992-1840995, 1840998-1840999, 1841006-1841008, 1841021-1841072, 1841089-1841092, 1841100, 1841135-1841165, 1841172-1841181, 1841186, 1841209-1841236, 1841262-1841283, 1841293-1841331, 1841343, 1841354, 1841358, 1841371-1841384, 1841411, 1841417, 1841423-1841425, 1841442-1841467, 1841503-1841525, 1841539-1841541, 1841555-1841646, 1841672-1841697, 1841701-1841712, 1841748, 1841760, 1841765-1841767, 1841778-1841781, 1841793-1841827, 1841840-1841848, 1841865, 1841877-1841885, 1841908-1841929, 1841962-1842010, 1842018-1842019, 1842053-1842072, 1842077-1842081, 1842149-1842156, 1842206-1842227, 1842252-1842258, 1842270-1842317, 1842348, 1842359-1842360, 1842374-1842390, 1842407, 1842427-1842461, 1842504, 1843652-1843653 |
| 161 | GFER | 16 | 0.35598705501618 | 398 | 618 | 2034220-2034477, 2034748-2034797, 2034805-2034839, 2034862-2034864, 2034867-2034893, 2034900-2034901, 2034909, 2035875, 2035919, 2035924-2035935, 2035943, 2035978-2035982, 2035997, 2036000 |
| 162 | TSC2 | 16 | 0.38901179941003 | 3314 | 5424 | 2098634-2098653, 2098724-2098733, 2098749-2098754, 2100463, 2103343-2103411, 2103430-2103432, 2103435-2103443, 2104436, 2106197-2106200, 2108757-2108766, 2108777-2108778, 2108788, 2108793-2108794, 2108873-2108874, 2110713, 2110773, 2110776-2110804, 2111878-2111879, 2111984-2112009, 2112507-2112509, 2112525, 2112545, 2112575-2112585, 2112981-2112982, 2112998, 2114350-2114356, 2114373, 2114395-2114428, 2115572-2115615, 2120478-2120508, 2120569, 2121511-2121512, 2121523-2121558, 2121578-2121617, 2121805, 2121845, 2121851-2121935, 2122245-2122284, 2122293, 2122315, 2122325, 2122331-2122333, 2122346-2122348, 2122869, 2122901-2122943, 2124201-2124250, 2124290-2124300, 2124309-2124380, 2124388-2124390, 2125803-2125805, 2125832-2125842, 2125847-2125851, 2125878-2125879, 2125885, 2126069-2126088, 2126095-2126099, 2126114-2126120, 2126131-2126164, 2126492-2126527, 2126544-2126586, 2127599-2127624, 2127632-2127674, 2127688-2127709, 2127725-2127727, 2129033-2129087, 2129113-2129115, 2129125-2129197, 2129277-2129319, 2129334-2129429, 2129558-2129670, 2130177-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136204-2136380, 2136733-2136872, 2137864-2137897, 2137914-2137942, 2138049-2138095, 2138101-2138140, 2138228-2138257, 2138275-2138326, 2138447-2138481, 2138494-2138501, 2138512-2138593, 2138600-2138611 |
| 163 | PKD1 | 16 | 0.0063506815365552 | 12830 | 12912 | 2139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142517, 2142526-2142593, 2142955-2143094, 2143545-2143647, 2143660-2143672, 2143687-2143739, 2143812-2144014, 2144093-2144184, 2144200-2144205, 2147149-2147242, 2147320-2147504, 2147730-2147781, 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, 2167792-2168248, 2168254-2168463, 2168677-2168813, 2168823-2168846, 2169115-2169181, 2169308-2169379, 2185483-2185690 |
| 164 | ABCA3 | 16 | 0.98592375366569 | 72 | 5115 | 2328399-2328400, 2331044, 2333188-2333190, 2333196-2333200, 2333204-2333205, 2333212, 2334280, 2334349, 2334353, 2334357, 2334962-2334976, 2335462, 2335541, 2338044, 2347330-2347336, 2347539-2347540, 2347903-2347922, 2348533-2348538, 2369655 |
| 165 | MEFV | 16 | 0.97144075021313 | 67 | 2346 | 3293147, 3293571-3293580, 3293618-3293624, 3294484-3294494, 3304502-3304524, 3304664-3304671, 3306420-3306426 |
| 166 | SLX4 | 16 | 0.99037238873751 | 53 | 5505 | 3633284, 3642820-3642866, 3644481-3644485 |
| 167 | CREBBP | 16 | 0.99699822622459 | 22 | 7329 | 3778401-3778403, 3778440-3778442, 3779162-3779177 |
| 168 | GLIS2 | 16 | 0.42920634920635 | 899 | 1575 | 4382302, 4382325-4382333, 4382375-4382388, 4382414-4382419, 4382435, 4383348-4383362, 4383393-4383397, 4383464-4383480, 4383487, 4384802-4384820, 4384829-4384854, 4384871, 4384874-4384876, 4384884, 4384893-4384901, 4384907, 4384924-4384955, 4385064-4385078, 4385114-4385143, 4385171-4385194, 4385288-4385304, 4385337-4385362, 4385386-4385394, 4386726-4386763, 4386786-4386853, 4386887-4386938, 4386960-4386991, 4387003-4387035, 4387041-4387153, 4387160-4387223, 4387227, 4387237-4387244, 4387261, 4387274, 4387277-4387293, 4387307-4387326, 4387337-4387489, 4387504-4387510, 4387517-4387525 |
| 169 | ALG1 | 16 | 0.9405017921147 | 83 | 1395 | 5128856, 5128860-5128875, 5130993-5131005, 5131020-5131052, 5134802-5134821 |
| 170 | PMM2 | 16 | 0.99865047233468 | 1 | 741 | 8905019 |
| 171 | ABCC6 | 16 | 0.88608156028369 | 514 | 4512 | 16253432-16253437, 16255302-16255341, 16255352-16255367, 16255413-16255421, 16256969-16256980, 16257004-16257011, 16259510-16259602, 16259616-16259619, 16259640-16259646, 16259676-16259716, 16259727, 16259772-16259790, 16263503-16263570, 16263588-16263596, 16263611-16263639, 16263641-16263645, 16263650-16263652, 16263707-16263710, 16267141-16267168, 16267195-16267219, 16267240-16267254, 16269768-16269783, 16271309-16271325, 16271456-16271463, 16271468-16271471, 16272750-16272757, 16315540-16315546, 16317274-16317275, 16317281-16317290 |
| 172 | CLN3 | 16 | 0.99772209567198 | 3 | 1317 | 28497673-28497675 |
| 173 | TUFM | 16 | 0.99342105263158 | 9 | 1368 | 28857566-28857574 |
| 174 | ATP2A1 | 16 | 0.99866932801065 | 4 | 3006 | 28898878-28898881 |
| 175 | SLC5A2 | 16 | 0.99801882119861 | 4 | 2019 | 31500056-31500057, 31500060-31500061 |
| 176 | SALL1 | 16 | 0.99924528301887 | 3 | 3975 | 51175656-51175658 |
| 177 | SLC12A3 | 16 | 0.98642095053346 | 42 | 3093 | 56920928-56920957, 56920971-56920974, 56921847, 56921858, 56921864-56921869 |
| 178 | HSD11B2 | 16 | 0.87110016420361 | 157 | 1218 | 67465152-67465300, 67465323-67465328, 67465415-67465416 |
| 179 | LCAT | 16 | 0.96447467876039 | 47 | 1323 | 67974024, 67974167, 67976443-67976450, 67976589-67976596, 67976963-67976986, 67977036, 67977968-67977971 |
| 180 | CDH3 | 16 | 0.99678714859438 | 8 | 2490 | 68721609-68721616 |
| 181 | CDH1 | 16 | 0.99962249905625 | 1 | 2649 | 68771350 |
| 182 | COG8 | 16 | 0.92224034801523 | 143 | 1839 | 69364742-69364757, 69364806-69364844, 69364858-69364876, 69373192, 69373232-69373251, 69373257-69373274, 69373315-69373325, 69373358-69373367, 69373410-69373418 |
| 183 | AARS | 16 | 0.98314413484692 | 49 | 2907 | 70286720-70286724, 70287636, 70291971-70291998, 70294956, 70296385, 70296391-70296393, 70296396, 70302253-70302260, 70303626 |
| 184 | HP | 16 | 0.94758394758395 | 64 | 1221 | 72092155-72092209, 72092231-72092237, 72093017, 72093033 |
| 185 | GCSH | 16 | 0.94827586206897 | 27 | 522 | 81129805-81129831 |
| 186 | GAN | 16 | 0.99498327759197 | 9 | 1794 | 81348840-81348848 |
| 187 | MLYCD | 16 | 0.92375168690958 | 113 | 1482 | 83932767-83932773, 83932781-83932783, 83932794-83932810, 83932840-83932849, 83932874-83932887, 83932973-83933008, 83933090-83933096, 83933102, 83933113-83933130 |
| 188 | FOXF1 | 16 | 0.99736842105263 | 3 | 1140 | 86544211-86544213 |
| 189 | FOXC2 | 16 | 0.86653386454183 | 201 | 1506 | 86601073-86601076, 86601420, 86601426, 86601431-86601432, 86601435, 86601515-86601518, 86601602-86601603, 86601613-86601619, 86601623, 86601647-86601664, 86601671-86601682, 86601793-86601815, 86601824-86601827, 86601865, 86601918, 86601931-86601973, 86601984-86602040, 86602187-86602197, 86602203-86602210 |
| 190 | JPH3 | 16 | 0.85491766800178 | 326 | 2247 | 87717758, 87717801-87717802, 87723298-87723333, 87723359-87723400, 87723444-87723447, 87723462-87723469, 87723496-87723503, 87723525, 87723529-87723624, 87723646-87723658, 87723720-87723745, 87723759-87723776, 87723876-87723891, 87723913-87723915, 87723952-87724003 |
| 191 | CYBA | 16 | 0.47619047619048 | 308 | 588 | 88709761-88709900, 88709911-88709933, 88709952-88709979, 88712542-88712546, 88712575-88712605, 88713228-88713238, 88713518-88713519, 88714459-88714486, 88717364-88717403 |
| 192 | APRT | 16 | 0.30570902394107 | 377 | 543 | 88876110, 88876121-88876132, 88876157-88876218, 88876224-88876248, 88876478-88876503, 88876509, 88876514, 88876532-88876556, 88876845-88876880, 88876948-88876954, 88876961-88876964, 88877958-88877984, 88877995-88878064, 88878228-88878307 |
| 193 | GALNS | 16 | 0.75589547482473 | 383 | 1569 | 88880847-88880851, 88880871-88880915, 88884415-88884427, 88884450-88884510, 88884519-88884532, 88888997-88889042, 88889057, 88889069-88889070, 88889073-88889076, 88889097-88889118, 88891175-88891186, 88891199-88891203, 88891226-88891227, 88891244-88891258, 88893110-88893126, 88893155, 88893205-88893207, 88898411-88898425, 88898440, 88904103-88904115, 88907416, 88907430, 88907439, 88907443, 88907456, 88909136-88909149, 88923175-88923204, 88923228, 88923236-88923251, 88923256-88923261, 88923272-88923285 |
| 194 | SPG7 | 16 | 0.99036850921273 | 23 | 2388 | 89574961-89574975, 89575007-89575008, 89623469-89623474 |
| 195 | FANCA | 16 | 0.97229853479853 | 121 | 4368 | 89805040-89805050, 89807261-89807264, 89837020-89837034, 89842165-89842167, 89877351, 89882319-89882326, 89882945-89883023 |
| 196 | TUBB3 | 16 | 0.92756836659276 | 98 | 1353 | 89989818-89989848, 90001731-90001741, 90001772-90001800, 90001890, 90001894-90001900, 90001968-90001974, 90002130-90002134, 90002185-90002191 |
| 197 | PRPF8 | 17 | 0.99957191780822 | 3 | 7008 | 1580305-1580307 |
| 198 | CTNS | 17 | 0.98503740648379 | 18 | 1203 | 3559799, 3559970-3559982, 3560066-3560069 |
| 199 | CHRNE | 17 | 0.98380566801619 | 24 | 1482 | 4802180, 4802588, 4802592, 4802652-4802653, 4804186-4804193, 4804426-4804436 |
| 200 | GP1BA | 17 | 0.99583333333333 | 8 | 1920 | 4837162-4837168, 4837243 |
| 201 | PITPNM3 | 17 | 0.98564102564103 | 42 | 2925 | 6358856-6358862, 6373580, 6374540, 6381402-6381412, 6459705-6459726 |
| 202 | ACADVL | 17 | 0.9994918699187 | 1 | 1968 | 7123500 |
| 203 | ALOX12B | 17 | 0.99952516619183 | 1 | 2106 | 7982714 |
| 204 | HES7 | 17 | 0.99852507374631 | 1 | 678 | 8025020 |
| 205 | TNFRSF13B | 17 | 0.99773242630385 | 2 | 882 | 16843780-16843781 |
| 206 | FLCN | 17 | 0.97413793103448 | 45 | 1740 | 17119705-17119708, 17125861, 17125864-17125866, 17131241-17131277 |
| 207 | RAI1 | 17 | 0.9891627337878 | 62 | 5721 | 17697094-17697105, 17697108, 17697625, 17698378, 17698714-17698730, 17699018, 17699397-17699405, 17699834, 17701577-17701582, 17712734-17712738, 17713284-17713291 |
| 208 | MYO15A | 17 | 0.94902293967715 | 540 | 10593 | 18022600-18022603, 18022847, 18023474, 18023733-18023735, 18023745, 18023880-18023903, 18023964, 18023974-18024067, 18024078-18024095, 18024112-18024157, 18024174-18024300, 18024347-18024370, 18024397-18024442, 18024448-18024475, 18024484, 18024519-18024528, 18024532-18024536, 18024582-18024594, 18024627, 18024752-18024763, 18025073, 18025180-18025186, 18025229-18025244, 18025426-18025460, 18070934-18070945, 18070949, 18070953-18070958, 18070961, 18070965 |
| 209 | UNC119 | 17 | 0.97925311203319 | 15 | 723 | 26879368-26879370, 26879419-26879430 |
| 210 | SLC6A4 | 17 | 0.99894347596408 | 2 | 1893 | 28543188-28543189 |
| 211 | TCAP | 17 | 0.99801587301587 | 1 | 504 | 37822295 |
| 212 | KRT10 | 17 | 0.9988603988604 | 2 | 1755 | 38978462, 38978536 |
| 213 | KRT14 | 17 | 0.88019732205779 | 170 | 1419 | 39738757-39738763, 39739487-39739515, 39741304-39741309, 39742642-39742648, 39742829-39742872, 39742894, 39742898-39742899, 39742926-39742973, 39743003-39743019, 39743078-39743086 |
| 214 | KRT16 | 17 | 0.94163150492264 | 83 | 1422 | 39766192-39766202, 39766265-39766281, 39768490-39768496, 39768706-39768753 |
| 215 | KRT17 | 17 | 0.94380292532717 | 73 | 1299 | 39776973-39776991, 39780345-39780384, 39780561-39780567, 39780686-39780692 |
| 216 | FKBP10 | 17 | 0.93539165237278 | 113 | 1749 | 39969298-39969300, 39969305-39969362, 39969393-39969401, 39969480, 39969483, 39969491, 39974373, 39974487, 39974490, 39974495-39974523, 39975546-39975550, 39976671, 39976676, 39977273 |
| 217 | STAT5B | 17 | 0.99576988155668 | 10 | 2364 | 40370749-40370755, 40371748-40371750 |
| 218 | NAGLU | 17 | 0.99059139784946 | 21 | 2232 | 40688373-40688376, 40688385-40688391, 40688511, 40688538-40688544, 40688629-40688630 |
| 219 | BRCA1 | 17 | 0.99840848806366 | 9 | 5655 | 41223066-41223074 |
| 220 | NAGS | 17 | 0.99626168224299 | 6 | 1605 | 42083225-42083230 |
| 221 | PLEKHM1 | 17 | 0.99558498896247 | 14 | 3171 | 43522997-43523003, 43531584-43531590 |
| 222 | RAD51C | 17 | 0.98143236074271 | 21 | 1131 | 56787252-56787272 |
| 223 | AP1S2 | 17 | 0.99839743589744 | 1 | 624 | 58180079 |
| 224 | TBX4 | 17 | 0.9981684981685 | 3 | 1638 | 59534016-59534018 |
| 225 | ACE | 17 | 0.93879112471308 | 240 | 3921 | 61554456-61554530, 61554534-61554540, 61554574-61554600, 61554606-61554640, 61554661-61554683, 61554692-61554704, 61557827, 61558546, 61560034, 61564052-61564061, 61566121-61566152, 61574565-61574579 |
| 226 | AXIN2 | 17 | 0.99960505529226 | 1 | 2532 | 63533768 |
| 227 | COG1 | 17 | 0.99966021066938 | 1 | 2943 | 71189237 |
| 228 | DNAI2 | 17 | 0.998899889989 | 2 | 1818 | 72308339-72308340 |
| 229 | USH1G | 17 | 0.997113997114 | 4 | 1386 | 72916439-72916442 |
| 230 | TSEN54 | 17 | 0.80202403542062 | 313 | 1581 | 73512642-73512681, 73512696-73512697, 73512827-73512991, 73513090-73513108, 73513115, 73513319-73513324, 73517949-73517974, 73518246-73518247, 73518292-73518293, 73518311-73518319, 73518324, 73518364-73518403 |
| 231 | ITGB4 | 17 | 0.90455293472298 | 522 | 5469 | 73726347, 73726518-73726521, 73726572-73726574, 73729650, 73733517-73733525, 73745085-73745091, 73747069-73747079, 73748362, 73748365, 73748385-73748414, 73748437, 73748527-73748528, 73749863-73749904, 73749922-73749942, 73749947, 73749950-73749960, 73749977-73750019, 73750050-73750054, 73750657-73750661, 73750733-73750735, 73750740-73750743, 73750747, 73750752-73750753, 73750767, 73751782-73751801, 73751809, 73751869-73751875, 73751913-73751930, 73752510-73752524, 73752527-73752528, 73752561, 73752578, 73752613-73752619, 73752793-73752798, 73752826-73752837, 73752853-73752856, 73752870-73752887, 73753034-73753103, 73753170-73753178, 73753291-73753342, 73753346-73753350, 73753370, 73753497-73753519, 73753526-73753533, 73753560-73753581, 73753601, 73753621, 73753629-73753636 |
| 232 | GALK1 | 17 | 0.68617472434266 | 370 | 1179 | 73754153-73754160, 73754291-73754302, 73754318-73754322, 73754326-73754342, 73754353-73754403, 73754411-73754437, 73754444-73754453, 73754530-73754590, 73754611-73754617, 73754632-73754661, 73759109-73759141, 73759153, 73759198-73759200, 73759203, 73759214-73759230, 73759486-73759494, 73761078-73761098, 73761113, 73761136-73761140, 73761167-73761217 |
| 233 | UNC13D | 17 | 0.93278337916285 | 220 | 3273 | 73824053-73824059, 73824145-73824158, 73824161, 73824973-73824994, 73825045-73825064, 73826445-73826449, 73826483-73826496, 73826659-73826678, 73830447-73830453, 73831584-73831594, 73831852-73831856, 73832433-73832435, 73832443, 73832737-73832754, 73832767-73832768, 73832776-73832777, 73836000-73836005, 73836023, 73838530-73838543, 73839241, 73840302-73840313, 73840339-73840364, 73840372-73840379 |
| 234 | SEPT9 | 17 | 0.93980692788189 | 106 | 1761 | 75478300-75478302, 75483608-75483611, 75484936-75484946, 75494605-75494606, 75494611-75494635, 75494646-75494649, 75494661-75494676, 75494679-75494713, 75494735-75494740 |
| 235 | GAA | 17 | 0.92270024484085 | 221 | 2859 | 78078559-78078566, 78078716-78078724, 78078768-78078783, 78078919-78078931, 78081356-78081365, 78081473-78081477, 78081512, 78082099-78082107, 78082110, 78082129-78082130, 78082299-78082333, 78082503-78082508, 78082582-78082598, 78083751-78083763, 78085792, 78086391-78086397, 78086436-78086452, 78086675-78086720, 78087041, 78092146-78092149 |
| 236 | SGSH | 17 | 0.80848243870113 | 289 | 1509 | 78184290-78184299, 78184432-78184462, 78184480-78184517, 78184539-78184561, 78184617-78184650, 78184750-78184753, 78184757, 78185938-78185944, 78185985-78185987, 78186064, 78187971-78187984, 78188420, 78188484-78188504, 78188853, 78188857, 78188862-78188865, 78188900-78188927, 78190874, 78194034-78194098, 78194109 |
| 237 | ACTG1 | 17 | 0.85283687943262 | 166 | 1128 | 79477761-79477795, 79477953-79477972, 79478007-79478011, 79478065-79478082, 79478278-79478308, 79478516, 79478614-79478650, 79479122-79479126, 79479273-79479284, 79479372, 79479380 |
| 238 | FSCN2 | 17 | 0.2393509127789 | 1125 | 1479 | 79495583-79495602, 79495624-79495643, 79495650, 79495662-79495687, 79495717-79495750, 79495764-79495829, 79495841-79495885, 79495899-79495903, 79495912-79495918, 79495930-79495949, 79495961, 79495975-79495985, 79495996, 79495999-79496020, 79496030-79496046, 79496055-79496061, 79496087-79496089, 79496093, 79496096-79496148, 79496172-79496179, 79496185-79496294, 79496315-79496356, 79496372-79496379, 79502078-79502119, 79502129-79502154, 79502167, 79502178-79502203, 79502210-79502234, 79503172-79503293, 79503648-79503735, 79503746-79503750, 79503760-79503815, 79503901-79504106 |
| 239 | AFG3L2 | 18 | 0.97786131996658 | 53 | 2394 | 12371608-12371613, 12371615, 12376993-12376997, 12377031-12377065, 12377076-12377081 |
| 240 | LAMA3 | 18 | 0.99760047990402 | 24 | 10002 | 21269650-21269652, 21269656-21269669, 21269721-21269727 |
| 241 | DSG2 | 18 | 0.99761691986893 | 8 | 3357 | 29078220-29078222, 29078225, 29078256-29078259 |
| 242 | MYO5B | 18 | 0.99873805660718 | 7 | 5547 | 47364149-47364155 |
| 243 | SMAD4 | 18 | 0.99758890898131 | 4 | 1659 | 48593478-48593481 |
| 244 | CCBE1 | 18 | 0.98689598689599 | 16 | 1221 | 57133988-57133995, 57134076-57134082, 57147440 |
| 245 | TNFRSF11A | 18 | 0.96272285251216 | 69 | 1851 | 59992586-59992654 |
| 246 | CTDP1 | 18 | 0.90713790713791 | 268 | 2886 | 77439948-77440209, 77440236-77440240, 77440243 |
| 247 | ELANE | 19 | 0.41293532338308 | 472 | 804 | 852329-852366, 852876-852887, 852902-852956, 852963-852968, 852971, 852974, 852992-853032, 853262-853337, 853343-853385, 853401, 855569-855574, 855583-855631, 855644-855645, 855685, 855702, 855713-855750, 855753-855754, 855769-855778, 855781-855794, 855966, 855984-855991, 856019-856038, 856072-856073, 856076-856084, 856130-856164 |
| 248 | KISS1R | 19 | 0.50375939849624 | 594 | 1197 | 917509, 917529-917601, 917607-917656, 917730-917733, 918544-918549, 918558-918560, 918573-918635, 918648-918668, 919497-919518, 919607, 919613, 919893-919935, 919942-919963, 919967, 919971-919973, 919982-919986, 919995-920032, 920048-920106, 920290-920392, 920398-920414, 920472-920486, 920580-920582, 920707, 920710-920748 |
| 249 | STK11 | 19 | 0.44930875576037 | 717 | 1302 | 1206943, 1206947, 1206961-1206996, 1207031-1207036, 1207187, 1218489-1218491, 1218497-1218499, 1219341-1219348, 1219380-1219412, 1220372-1220430, 1220441-1220442, 1220450-1220484, 1220487-1220504, 1220580-1220716, 1221212-1221222, 1221247-1221339, 1221955, 1221958, 1221969-1222005, 1223001, 1223009, 1223039-1223042, 1223045, 1223059-1223171, 1226476-1226481, 1226484-1226485, 1226501, 1226533, 1226546-1226646 |
| 250 | NDUFS7 | 19 | 0.96573208722741 | 22 | 642 | 1395405-1395406, 1395433-1395438, 1395474-1395487 |
| 251 | GAMT | 19 | 0.9320987654321 | 55 | 810 | 1398824, 1398827-1398833, 1401374-1401416, 1401435-1401437, 1401461 |
| 252 | RAX2 | 19 | 0.76756756756757 | 129 | 555 | 3770698-3770704, 3770748-3770800, 3770839, 3770874-3770898, 3771555-3771562, 3771608-3771626, 3771645-3771660 |
| 253 | MAP2K2 | 19 | 0.78054862842893 | 264 | 1203 | 4090596-4090604, 4090608, 4090617, 4090634-4090652, 4090696, 4090700, 4095400-4095410, 4097288-4097341, 4099212-4099230, 4099242-4099265, 4099274-4099281, 4099380-4099389, 4099411-4099412, 4117417-4117419, 4117492-4117494, 4117497-4117500, 4117547, 4117616, 4123781-4123872 |
| 254 | NDUFA11 | 19 | 0.94835680751174 | 22 | 426 | 5903623-5903643, 5903699 |
| 255 | TUBB4 | 19 | 0.97827715355805 | 29 | 1335 | 6495601-6495629 |
| 256 | C3 | 19 | 0.9541266025641 | 229 | 4992 | 6707143-6707149, 6707213, 6707512, 6707821-6707829, 6709738-6709745, 6709791-6709797, 6709819-6709848, 6710744-6710781, 6711132-6711137, 6713511-6713520, 6714003-6714019, 6714026-6714062, 6714069-6714071, 6714183-6714225, 6714446-6714457 |
| 257 | INSR | 19 | 0.99084116654616 | 38 | 4149 | 7293831-7293847, 7293859-7293874, 7293884-7293888 |
| 258 | MCOLN1 | 19 | 0.99655765920826 | 6 | 1743 | 7594005-7594009, 7594498 |
| 259 | PNPLA6 | 19 | 0.97414658634538 | 103 | 3984 | 7607453, 7614848-7614854, 7615267-7615277, 7615283, 7615880-7615898, 7615903, 7615913-7615923, 7615927-7615959, 7616291-7616309 |
| 260 | STXBP2 | 19 | 0.99551066217733 | 8 | 1782 | 7702047-7702050, 7702056, 7702059-7702061 |
| 261 | TYK2 | 19 | 0.88019079685746 | 427 | 3564 | 10463127, 10463131-10463156, 10463614-10463626, 10463657-10463680, 10463705, 10463709-10463722, 10463733, 10463737, 10463748-10463753, 10463758-10463760, 10463765, 10463769, 10464206-10464269, 10464721-10464760, 10465213-10465215, 10465235, 10465245, 10465275-10465277, 10467244-10467258, 10468451-10468480, 10468527-10468542, 10468593, 10468681, 10468687-10468688, 10468763, 10468767-10468768, 10468773, 10468781-10468782, 10468813, 10475324-10475325, 10476339-10476396, 10476500, 10478972, 10488901-10488919, 10488923, 10488946, 10488950-10488956, 10488962, 10488989-10488991, 10488994-10489041, 10489050, 10489055, 10489076-10489082 |
| 262 | LDLR | 19 | 0.99883855981417 | 3 | 2583 | 11221425-11221427 |
| 263 | PRKCSH | 19 | 0.99621928166352 | 6 | 1587 | 11558341-11558346 |
| 264 | MAN2B1 | 19 | 0.93478260869565 | 198 | 3036 | 12759062, 12759068-12759070, 12759073, 12759122, 12767845-12767870, 12768260-12768266, 12768273-12768319, 12768341-12768347, 12768877-12768878, 12768909-12768910, 12768913-12768914, 12768917-12768918, 12768930, 12769073-12769114, 12769139, 12769279-12769324, 12777453-12777454, 12777465-12777469 |
| 265 | CACNA1A | 19 | 0.98231618135886 | 133 | 7521 | 13318282-13318287, 13318293-13318343, 13318365, 13318478-13318484, 13318510-13318516, 13318549-13318567, 13318650-13318685, 13318795-13318797, 13319694-13319696 |
| 266 | NOTCH3 | 19 | 0.98262991673844 | 121 | 6966 | 15281315, 15285052, 15288501, 15288802-15288825, 15302252, 15302337, 15302556-15302557, 15311614-15311701, 15311715-15311716 |
| 267 | JAK3 | 19 | 0.99851851851852 | 5 | 3375 | 17953248-17953251, 17953322 |
| 268 | SLC5A5 | 19 | 0.99741200828157 | 5 | 1932 | 17984993-17984997 |
| 269 | IL12RB1 | 19 | 0.9587732528909 | 82 | 1989 | 18186618, 18186623, 18186631-18186636, 18191773-18191792, 18197570-18197590, 18197595, 18197602-18197633 |
| 270 | COMP | 19 | 0.86323658751099 | 311 | 2274 | 18893879, 18893979-18893985, 18896507-18896508, 18896522-18896544, 18896775-18896782, 18896814-18896831, 18896834-18896847, 18898302-18898311, 18898356, 18898395-18898399, 18899065-18899069, 18899111-18899112, 18899115-18899116, 18899119-18899122, 18899236, 18899401-18899402, 18899414, 18899466-18899468, 18899479, 18899489, 18899532-18899550, 18899982-18900005, 18900042-18900072, 18900085-18900106, 18900751-18900757, 18900810-18900811, 18900820-18900843, 18900847, 18900853-18900855, 18900866, 18900904-18900923, 18901379, 18901397, 18901401, 18901665-18901680, 18902018, 18902029, 18902054-18902078 |
| 271 | CEBPA | 19 | 0.4661095636026 | 575 | 1077 | 33792371, 33792423-33792428, 33792527-33792531, 33792568, 33792577-33792578, 33792580, 33792584, 33792628-33792643, 33792650-33792654, 33792665-33792686, 33792712-33792866, 33792868-33792870, 33792896-33792961, 33792976-33793104, 33793144-33793268, 33793284-33793320 |
| 272 | SCN1B | 19 | 0.97026022304833 | 24 | 807 | 35521725-35521748 |
| 273 | MAG | 19 | 0.94577352472089 | 102 | 1881 | 35786320, 35790491-35790494, 35790511, 35790535, 35790543-35790549, 35790577-35790592, 35790643-35790646, 35790649-35790650, 35790701-35790746, 35791075-35791076, 35791081-35791083, 35791092-35791096, 35791145-35791154 |
| 274 | TYROBP | 19 | 0.7905604719764 | 71 | 339 | 36398369-36398399, 36398436-36398457, 36399070-36399082, 36399088-36399092 |
| 275 | WDR62 | 19 | 0.99671916010499 | 15 | 4572 | 36579973, 36582310-36582311, 36593042, 36595866-36595875, 36595930 |
| 276 | RYR1 | 19 | 0.9696368327049 | 459 | 15117 | 38987534, 39051906, 39055612-39055613, 39055618-39055620, 39055657, 39055710-39055741, 39055748-39055812, 39055820-39055972, 39055975, 39055986-39056062, 39056075-39056082, 39056148-39056164, 39056206-39056236, 39056254-39056257, 39056261-39056322, 39056370 |
| 277 | ACTN4 | 19 | 0.97441520467836 | 70 | 2736 | 39215118-39215129, 39219777-39219778, 39219780, 39219939, 39219970-39220023 |
| 278 | DLL3 | 19 | 0.99892299407647 | 2 | 1857 | 39993604, 39997888 |
| 279 | PRX | 19 | 0.99977200182399 | 1 | 4386 | 40909664 |
| 280 | TGFB1 | 19 | 0.97868712702472 | 25 | 1173 | 41837065-41837069, 41837080-41837081, 41838112, 41854235, 41854244-41854254, 41858919-41858921, 41858928, 41858934 |
| 281 | ATP1A3 | 19 | 0.99891245241979 | 4 | 3678 | 42471331-42471334 |
| 282 | BCAM | 19 | 0.9697933227345 | 57 | 1887 | 45312396-45312452 |
| 283 | SIX5 | 19 | 0.86306306306306 | 304 | 2220 | 46268878-46268895, 46268975-46268981, 46268984-46268994, 46269167, 46269183-46269194, 46269872-46269877, 46269952-46269954, 46269960-46269961, 46269964, 46270013, 46270133-46270138, 46270188, 46270196-46270199, 46271317-46271320, 46271489, 46271567-46271600, 46271603, 46271688, 46271708-46271729, 46271771-46271794, 46271823-46271825, 46271829-46271848, 46271853-46271857, 46271867-46271870, 46271896-46271926, 46271932-46271988, 46272060-46272083 |
| 284 | DMPK | 19 | 0.93756613756614 | 118 | 1890 | 46273892-46273893, 46274239-46274241, 46274259, 46274295, 46280839, 46281856-46281865, 46281894, 46281899, 46283099-46283106, 46283126-46283127, 46285460, 46285508-46285510, 46285519, 46285523-46285526, 46285532-46285610 |
| 285 | FKRP | 19 | 0.86290322580645 | 204 | 1488 | 47258804-47258823, 47259071-47259083, 47259160-47259161, 47259250-47259279, 47259367-47259404, 47259435, 47259459-47259486, 47259494-47259525, 47259620-47259626, 47259636-47259642, 47259668-47259686, 47259688-47259689, 47259751, 47260171-47260174 |
| 286 | DBP | 19 | 0.47341513292434 | 515 | 978 | 49134165-49134206, 49136848-49136867, 49136876-49136895, 49138837-49139145, 49139153-49139232, 49140189-49140226, 49140246-49140251 |
| 287 | MED25 | 19 | 0.9879679144385 | 27 | 2244 | 50321617-50321627, 50335404-50335414, 50339189-50339190, 50339526, 50340104-50340105 |
| 288 | PNKP | 19 | 0.99936143039591 | 1 | 1566 | 50365648 |
| 289 | MYH14 | 19 | 0.99885452462772 | 7 | 6111 | 50770215-50770221 |
| 290 | KCNC3 | 19 | 0.81970096745822 | 410 | 2274 | 50826396-50826397, 50831656-50831679, 50831686-50831798, 50831926-50831981, 50832001-50832012, 50832027, 50832096, 50832101, 50832113-50832156, 50832184-50832339 |
| 291 | NLRP12 | 19 | 0.9946641556811 | 17 | 3186 | 54304536, 54304539, 54312886-54312897, 54313595-54313597 |
| 292 | PRKCG | 19 | 0.99952244508118 | 1 | 2094 | 54401868 |
| 293 | PRPF31 | 19 | 0.81266666666667 | 281 | 1500 | 54621690-54621709, 54627878-54627880, 54631463-54631482, 54631497-54631524, 54631553-54631575, 54631680-54631683, 54631713-54631752, 54632467-54632515, 54632544, 54632647-54632664, 54632670-54632735, 54634852-54634860 |
| 294 | TNNT1 | 19 | 0.97591888466413 | 19 | 789 | 55644303, 55644325, 55645491, 55652258-55652273 |
| 295 | TPO | 2 | 0.93540328336902 | 181 | 2802 | 1520656-1520670, 1520676-1520677, 1520681-1520753, 1544380-1544447, 1544461-1544475, 1544484, 1546213-1546216, 1546242-1546244 |
| 296 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10183844-10183885 |
| 297 | LPIN1 | 2 | 0.99887766554433 | 3 | 2673 | 11911803-11911805 |
| 298 | MYCN | 2 | 0.98709677419355 | 18 | 1395 | 16082646-16082663 |
| 299 | POMC | 2 | 0.98383084577114 | 13 | 804 | 25384428-25384440 |
| 300 | OTOF | 2 | 0.88371705038372 | 697 | 5994 | 26684587-26684589, 26684706, 26684748-26684749, 26684779, 26684983-26685022, 26686860, 26686870-26686874, 26686956-26686965, 26688868-26688894, 26695502-26695508, 26695516, 26696274-26696280, 26696891-26696923, 26697392-26697394, 26697404-26697408, 26697411, 26697418-26697441, 26697503, 26697506-26697509, 26697514-26697525, 26698847-26698861, 26698886-26698897, 26698996-26699000, 26699090-26699111, 26699119, 26699126, 26699146-26699185, 26699767-26699827, 26699877, 26699883-26699895, 26699908-26699911, 26700040-26700054, 26700075-26700134, 26700336, 26700365-26700368, 26700526-26700538, 26700543, 26700566-26700599, 26702169-26702200, 26702209-26702222, 26702341-26702345, 26702374-26702395, 26702426-26702469, 26703665-26703692, 26703802-26703830, 26705274-26705305 |
| 301 | SPAST | 2 | 0.98865478119935 | 21 | 1851 | 32288984, 32289215-32289234 |
| 302 | CYP1B1 | 2 | 0.94301470588235 | 93 | 1632 | 38301968-38301974, 38302016-38302050, 38302188-38302216, 38302336-38302338, 38302341-38302350, 38302422-38302423, 38302469-38302475 |
| 303 | SOS1 | 2 | 0.99725137431284 | 11 | 4002 | 39224545, 39224556, 39224559-39224566, 39281931 |
| 304 | ABCG8 | 2 | 0.986646884273 | 27 | 2022 | 44099375-44099390, 44099428-44099431, 44101037, 44101074, 44102363-44102365, 44102386-44102387 |
| 305 | SIX3 | 2 | 0.97497497497497 | 25 | 999 | 45169630-45169654 |
| 306 | EPCAM | 2 | 0.97460317460317 | 24 | 945 | 47596645, 47596682-47596704 |
| 307 | MSH2 | 2 | 0.99679144385027 | 9 | 2805 | 47630345-47630353 |
| 308 | MSH6 | 2 | 0.99608131276023 | 16 | 4083 | 48010466-48010480, 48010613 |
| 309 | DYSF | 2 | 0.99512578616352 | 31 | 6360 | 71797788-71797792, 71825791-71825801, 71825854-71825859, 71838437-71838441, 71839797, 71839802-71839804 |
| 310 | SPR | 2 | 0.99745547073791 | 2 | 786 | 73114775, 73114791 |
| 311 | ALMS1 | 2 | 0.99976007677543 | 3 | 12504 | 73613032-73613034 |
| 312 | REEP1 | 2 | 0.96534653465347 | 21 | 606 | 86564602-86564612, 86564624-86564633 |
| 313 | EIF2AK3 | 2 | 0.99552372426141 | 15 | 3351 | 88926725-88926737, 88926760, 88926764 |
| 314 | TMEM127 | 2 | 0.99163179916318 | 6 | 717 | 96931082-96931087 |
| 315 | RANBP2 | 2 | 0.98811369509044 | 115 | 9675 | 109347799-109347811, 109357110-109357116, 109365376, 109367729, 109378582-109378629, 109378641-109378647, 109382943, 109383280-109383301, 109383888, 109384539-109384545, 109384628-109384634 |
| 316 | GLI2 | 2 | 0.99264860323461 | 35 | 4761 | 121746146-121746156, 121746182-121746189, 121746500-121746513, 121746552-121746553 |
| 317 | PROC | 2 | 0.95815295815296 | 58 | 1386 | 128180658-128180681, 128180705-128180707, 128180712-128180714, 128183724-128183751 |
| 318 | CFC1 | 2 | 0.66666666666667 | 224 | 672 | 131279074, 131279594, 131279619, 131279658, 131279668, 131280363-131280410, 131280419-131280463, 131280742-131280762, 131280785-131280819, 131285304-131285333, 131285345-131285384 |
| 319 | NEB | 2 | 0.99989986983078 | 2 | 19974 | 152402512, 152432725 |
| 320 | SCN2A | 2 | 0.99883682286474 | 7 | 6018 | 166237675-166237681 |
| 321 | ITGA6 | 2 | 0.99450549450549 | 18 | 3276 | 173292523-173292540 |
| 322 | HOXD13 | 2 | 0.99418604651163 | 6 | 1032 | 176957669-176957673, 176957822 |
| 323 | TTN | 2 | 0.99993017317054 | 7 | 100248 | 179458383-179458386, 179514903-179514905 |
| 324 | CERKL | 2 | 0.97811131957473 | 35 | 1599 | 182468588-182468594, 182468703-182468705, 182468757-182468781 |
| 325 | HSPD1 | 2 | 0.97212543554007 | 48 | 1722 | 198351835-198351882 |
| 326 | BMPR2 | 2 | 0.99935835739493 | 2 | 3117 | 203384825-203384826 |
| 327 | NDUFS1 | 2 | 0.99679487179487 | 7 | 2184 | 207018363-207018369 |
| 328 | WNT10A | 2 | 0.99760765550239 | 3 | 1254 | 219757606-219757607, 219757610 |
| 329 | DES | 2 | 0.99363057324841 | 9 | 1413 | 220283703-220283711 |
| 330 | OBSL1 | 2 | 0.9409594095941 | 336 | 5691 | 220416893-220416906, 220417308, 220417327, 220417331, 220417394, 220417404, 220417741, 220435388-220435394, 220435405-220435409, 220435500-220435512, 220435543-220435561, 220435584-220435689, 220435697-220435713, 220435730-220435769, 220435778, 220435792-220435814, 220435844-220435853, 220435863-220435880, 220435898-220435954 |
| 331 | AGXT | 2 | 0.9813401187447 | 22 | 1179 | 241810096-241810115, 241810124, 241816976 |
| 332 | D2HGDH | 2 | 0.95593869731801 | 69 | 1566 | 242674672-242674683, 242707290-242707327, 242707366-242707384 |
| 333 | AVP | 20 | 0.92929292929293 | 35 | 495 | 3063349-3063352, 3063363-3063364, 3063368-3063369, 3063625-3063629, 3063632, 3063640-3063641, 3063681-3063699 |
| 334 | PANK2 | 20 | 0.99824868651489 | 3 | 1713 | 3870065, 3870095, 3870100 |
| 335 | JAG1 | 20 | 0.99535138091332 | 17 | 3657 | 10654162-10654178 |
| 336 | SNTA1 | 20 | 0.93807641633729 | 94 | 1518 | 32031172-32031181, 32031226-32031251, 32031317, 32031320-32031333, 32031376-32031382, 32031391-32031426 |
| 337 | ADA | 20 | 0.99908424908425 | 1 | 1092 | 43257770 |
| 338 | CTSA | 20 | 0.99465597862391 | 8 | 1497 | 44520222, 44520225, 44520238-44520243 |
| 339 | SLC2A10 | 20 | 0.99938499384994 | 1 | 1626 | 45338376 |
| 340 | GNAS | 20 | 0.98238482384824 | 13 | 738 | 57415190-57415193, 57415346, 57415355, 57415565, 57415568-57415569, 57415806-57415809 |
| 341 | GNAS | 20 | 0.98073217726397 | 60 | 3114 | 57429077, 57429198-57429216, 57429429-57429430, 57429433-57429445, 57429745, 57429751-57429757, 57429762, 57429816, 57429820, 57429826, 57430112-57430114, 57430376-57430385 |
| 342 | COL9A3 | 20 | 0.87493917274939 | 257 | 2055 | 61448417-61448473, 61448489-61448494, 61448929, 61448933, 61448954, 61448977-61448987, 61450600, 61450603-61450606, 61450614-61450619, 61451295-61451298, 61453135-61453152, 61453486-61453488, 61453492-61453493, 61453513-61453516, 61453969-61453980, 61455836-61455853, 61456340-61456356, 61457204-61457212, 61457583-61457585, 61457589, 61458119, 61458147-61458157, 61461712-61461724, 61461756, 61461759, 61461891-61461940, 61468571 |
| 343 | CHRNA4 | 20 | 0.24150743099788 | 1429 | 1884 | 61978090-61978115, 61978122-61978130, 61978134, 61978173, 61978183-61978203, 61981005-61981399, 61981407-61981413, 61981423-61981431, 61981441, 61981446, 61981457-61981475, 61981532-61981733, 61981745-61981779, 61981821-61981823, 61981839-61981860, 61981880-61981903, 61981923-61981951, 61981972-61981987, 61982023-61982054, 61982076-61982102, 61982109-61982167, 61982171, 61982187-61982189, 61982193, 61982210-61982254, 61982286-61982329, 61982367-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517 |
| 344 | KCNQ2 | 20 | 0.6258113783887 | 980 | 2619 | 62037997-62038027, 62038045-62038047, 62038209-62038212, 62038238-62038255, 62038288-62038290, 62038294-62038296, 62038316-62038360, 62038418-62038448, 62038472-62038482, 62038524-62038541, 62038568-62038603, 62038613-62038616, 62038639-62038660, 62038680-62038726, 62039766-62039767, 62045449, 62059752-62059758, 62059764, 62070972-62070974, 62071038-62071061, 62073759-62073762, 62073783-62073822, 62073841-62073849, 62073870-62073876, 62076015-62076057, 62076067-62076098, 62076127-62076187, 62076594-62076717, 62078100-62078113, 62078132-62078148, 62078155, 62078173-62078190, 62103521-62103816 |
| 345 | SOX18 | 20 | 0.22943722943723 | 890 | 1155 | 62679519-62679555, 62679557-62679562, 62679566, 62679624-62679640, 62679688-62679714, 62679751-62679777, 62679781-62679785, 62679838-62679877, 62679890-62679954, 62679966-62680131, 62680140-62680210, 62680237-62680291, 62680301-62680315, 62680512-62680869 |
| 346 | APP | 21 | 0.98313878080415 | 39 | 2313 | 27542900-27542938 |
| 347 | SOD1 | 21 | 0.99569892473118 | 2 | 465 | 33032117, 33032147 |
| 348 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 349 | RCAN1 | 21 | 0.88405797101449 | 88 | 759 | 35987166, 35987173-35987179, 35987199-35987258, 35987266-35987285 |
| 350 | AIRE | 21 | 0.54945054945055 | 738 | 1638 | 45705890-45706007, 45706442-45706444, 45706448-45706449, 45706452-45706456, 45706501-45706508, 45706571, 45706603-45706614, 45706958-45706984, 45706991-45706994, 45707442-45707454, 45707458-45707459, 45708250-45708295, 45708311-45708325, 45708333, 45708337-45708340, 45709544, 45709572-45709614, 45709623-45709649, 45709676-45709685, 45709903, 45709933, 45711008-45711036, 45712250-45712254, 45712266-45712279, 45712876-45712885, 45712903-45712904, 45712907-45712925, 45712948-45712963, 45712977-45712986, 45713012-45713050, 45713672-45713678, 45713688-45713689, 45713703-45713715, 45713724-45713727, 45713744-45713746, 45713756-45713760, 45713764, 45713771-45713793, 45714284-45714386, 45716266-45716328, 45717583-45717608 |
| 351 | ITGB2 | 21 | 0.94935064935065 | 117 | 2310 | 46308624-46308650, 46308677-46308694, 46308745-46308764, 46309973-46309980, 46310032-46310053, 46310111, 46310115-46310116, 46311813, 46311853-46311854, 46320364, 46326831-46326840, 46330240, 46330688-46330691 |
| 352 | COL18A1 | 21 | 0.60303893637227 | 2090 | 5265 | 46875544, 46875606-46875617, 46875711, 46875881, 46875938-46875948, 46876069, 46876174-46876199, 46876217-46876240, 46876270-46876282, 46876542-46876552, 46876555-46876565, 46876571, 46876609-46876620, 46876640, 46876665-46876693, 46876714-46876715, 46876718-46876725, 46888234-46888253, 46896316, 46896325-46896365, 46897332, 46897840-46897848, 46899863, 46899867, 46899875, 46900682-46900715, 46900725-46900764, 46906789, 46906801-46906815, 46906824-46906896, 46907361-46907362, 46907405, 46908332-46908340, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911142, 46911149-46911228, 46912449-46912465, 46912474-46912478, 46912601-46912627, 46913077-46913139, 46913425-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915309, 46915329-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927489, 46927498-46927507, 46929290-46929408, 46929439-46929442, 46929455-46929467, 46929474, 46929486, 46929490-46929493, 46929499-46929515, 46929978-46929992, 46930018-46930077, 46930106, 46930113, 46930129-46930175, 46931025-46931072, 46931110-46931118, 46932112, 46932115-46932126, 46932139-46932141, 46932154-46932159, 46932162-46932170, 46932196-46932217, 46932265-46932271 |
| 353 | COL6A1 | 21 | 0.75704567541302 | 750 | 3087 | 47401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406455, 47406485-47406497, 47406518-47406547, 47406572-47406584, 47406858-47406893, 47406912-47406985, 47407413-47407433, 47407524-47407527, 47407540-47407568, 47409045-47409051, 47409522-47409524, 47409551-47409559, 47410172-47410179, 47410311-47410336, 47410943-47410945, 47412304-47412308, 47417639-47417651, 47419595-47419606 |
| 354 | COL6A2 | 21 | 0.4578431372549 | 1659 | 3060 | 47531431-47531505, 47531908-47531910, 47531921-47531934, 47531937, 47531959, 47531995-47532022, 47532046, 47532110-47532111, 47532118, 47532133, 47532156, 47532167-47532169, 47532177, 47532209, 47532249-47532258, 47532285-47532313, 47532403-47532415, 47532485-47532491, 47532726-47532728, 47533970-47533973, 47533987, 47535823-47535839, 47535935, 47535938-47535943, 47535946-47535958, 47536568-47536591, 47536684-47536722, 47537317, 47537326-47537339, 47537358-47537367, 47537788-47537823, 47537842-47537850, 47538528-47538590, 47538960, 47538983-47539033, 47539708-47539728, 47539743-47539764, 47540429-47540491, 47540997-47541037, 47541470-47541532, 47542022-47542072, 47542418, 47542425, 47542430-47542445, 47542810-47542851, 47545187, 47545198-47545204, 47545428-47545445, 47545475-47545479, 47545510-47545531, 47545699-47545732, 47545752-47545764, 47545768, 47545845-47545880, 47545891-47545901, 47545907-47545984, 47545993-47546006, 47546032-47546037, 47546079, 47546097, 47546120-47546151, 47546431, 47546437-47546446, 47551871-47551877, 47551884-47551886, 47551889, 47551904-47551914, 47551927-47552466 |
| 355 | COL6A2 | 21 | 0.090643274853801 | 311 | 342 | 47552183-47552493 |
| 356 | FTCD | 21 | 0.10270602706027 | 1459 | 1626 | 47556901-47556910, 47556919-47556926, 47556954-47556987, 47557153-47557171, 47557222, 47557232-47557248, 47558449-47558450, 47558469-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570040-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575394, 47575416-47575437 |
| 357 | PCNT | 21 | 0.99960043951653 | 4 | 10011 | 47831456, 47836734-47836736 |
| 358 | PRODH | 22 | 0.87243483083749 | 230 | 1803 | 18900764, 18900770-18900775, 18900783-18900784, 18900951-18900952, 18901004, 18904414, 18905829-18905845, 18905978, 18908899-18908925, 18909902, 18910335, 18912587, 18918646-18918664, 18923528-18923553, 18923571-18923599, 18923642-18923678, 18923699, 18923713-18923716, 18923721-18923734, 18923748-18923765, 18923780-18923800 |
| 359 | GP1BB | 22 | 0.014492753623188 | 612 | 621 | 19711093-19711102, 19711377-19711926, 19711936-19711987 |
| 360 | TBX1 | 22 | 0.56048387096774 | 654 | 1488 | 19748428-19748708, 19748739, 19748799-19748803, 19753289-19753298, 19753425-19753432, 19753451, 19753455-19753523, 19753912-19753930, 19753943-19753969, 19753982-19754051, 19754057-19754095, 19754107-19754154, 19754172, 19754178, 19754182-19754199, 19754231-19754238, 19754282-19754312, 19754323-19754330, 19754333-19754340, 19754352 |
| 361 | CHEK2 | 22 | 0.95059625212947 | 87 | 1761 | 29083889-29083917, 29083947-29083965, 29085142-29085171, 29090054, 29091837-29091844 |
| 362 | MYH9 | 22 | 0.99728029916709 | 16 | 5883 | 36696907-36696922 |
| 363 | TRIOBP | 22 | 0.99718230487461 | 20 | 7098 | 38119891-38119904, 38120041, 38130942-38130946 |
| 364 | PLA2G6 | 22 | 0.079754601226994 | 450 | 489 | 38508274-38508275, 38508283-38508312, 38508511-38508584, 38509494-38509618, 38509626-38509630, 38509634, 38509641, 38509658-38509869 |
| 365 | PLA2G6 | 22 | 0.71127633209418 | 699 | 2421 | 38508168-38508275, 38508283-38508312, 38508511-38508584, 38509494-38509618, 38509626-38509630, 38509634, 38509641, 38509658-38509661, 38511534-38511567, 38511591-38511688, 38512082-38512165, 38512181-38512218, 38516890, 38516898-38516911, 38516914, 38519102-38519119, 38519139-38519146, 38519179-38519199, 38519231-38519234, 38519238-38519242, 38519245-38519251, 38524355, 38524362-38524363, 38524405, 38528891, 38531032-38531044 |
| 366 | TNFRSF13C | 22 | 0.36936936936937 | 350 | 555 | 42322105-42322335, 42322642-42322645, 42322653-42322698, 42322701, 42322710-42322777 |
| 367 | CYB5R3 | 22 | 0.97682119205298 | 21 | 906 | 43045301-43045321 |
| 368 | ATXN10 | 22 | 0.99929971988796 | 1 | 1428 | 46068041 |
| 369 | TRMU | 22 | 0.9913112164297 | 11 | 1266 | 46731724-46731734 |
| 370 | ALG12 | 22 | 0.99795501022495 | 3 | 1467 | 50307290, 50307293, 50307298 |
| 371 | MLC1 | 22 | 0.98324514991182 | 19 | 1134 | 50502477, 50502480-50502495, 50502626-50502627 |
| 372 | TYMP | 22 | 0.64113181504486 | 520 | 1449 | 50964199, 50964212-50964218, 50964229-50964336, 50964430-50964570, 50964675-50964687, 50964715-50964737, 50964741, 50964794-50964839, 50964853-50964855, 50964860-50964905, 50965087-50965133, 50965155-50965158, 50965595-50965603, 50965634-50965636, 50967755-50967760, 50967932-50967967, 50967998, 50968008-50968028, 50968116-50968119 |
| 373 | ARSA | 22 | 0.99737532808399 | 4 | 1524 | 51063632-51063634, 51064090 |
| 374 | SHANK3 | 22 | 0.67162471395881 | 1722 | 5244 | 51113070-51113132, 51113476-51113611, 51113620, 51113630, 51113635-51113659, 51113679, 51115063, 51115073-51115079, 51117013-51117057, 51117075-51117121, 51117197-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133234-51133235, 51133244-51133245, 51133326-51133339, 51133347-51133360, 51133363-51133370, 51133376-51133377, 51135672-51135719, 51135951-51136143, 51143214-51143218, 51143270-51143273, 51158734, 51158764, 51158768-51158777, 51158782-51158792, 51158800, 51158805-51158807, 51158819, 51158828-51158830, 51158833, 51158843-51158886, 51158912-51158926, 51158931-51158932, 51158934-51158997, 51159007-51159008, 51159022-51159055, 51159062-51159111, 51159132-51159206, 51159243-51159275, 51159284-51159291, 51159300-51159306, 51159318-51159347, 51159356-51159357, 51159366-51159370, 51159373-51159374, 51159377, 51159385, 51159389-51159390, 51159419-51159473, 51169228, 51169295, 51169428-51169434, 51169442, 51169534-51169537, 51169575, 51169610-51169611, 51169655-51169694 |
| 375 | FANCD2 | 3 | 0.99252717391304 | 33 | 4416 | 10088266, 10088299, 10088308, 10107078-10107093, 10107165-10107171, 10115015-10115021 |
| 376 | VHL | 3 | 0.91588785046729 | 54 | 642 | 10183630-10183663, 10183704-10183723 |
| 377 | RAF1 | 3 | 0.9989727786338 | 2 | 1947 | 12641657-12641658 |
| 378 | TMIE | 3 | 0.82788671023965 | 79 | 459 | 46742860-46742878, 46742918-46742922, 46742953-46742973, 46743004-46743013, 46743020-46743043 |
| 379 | TMIE | 3 | 0.91507430997877 | 40 | 471 | 46743004-46743013, 46743020-46743043, 46751074-46751079 |
| 380 | TREX1 | 3 | 0.99279279279279 | 8 | 1110 | 48508034-48508037, 48508904-48508907 |
| 381 | COL7A1 | 3 | 0.98777589134126 | 108 | 8835 | 48613318, 48617027-48617032, 48617037, 48617479-48617484, 48623604-48623611, 48625226-48625275, 48625345, 48625350, 48625353, 48627038, 48627041-48627063, 48627102-48627107, 48627135, 48627144, 48627661 |
| 382 | TNNC1 | 3 | 0.99588477366255 | 2 | 486 | 52485441, 52486141 |
| 383 | RFT1 | 3 | 0.98769987699877 | 20 | 1626 | 53156400-53156401, 53156428-53156441, 53156488-53156491 |
| 384 | ATXN7 | 3 | 0.91261451726568 | 248 | 2838 | 63898294-63898334, 63898357-63898553, 63898579-63898588 |
| 385 | GBE1 | 3 | 0.99857752489331 | 3 | 2109 | 81754705-81754707 |
| 386 | PROS1 | 3 | 0.99753815854259 | 5 | 2031 | 93593119, 93595906-93595909 |
| 387 | ARL13B | 3 | 0.91763791763792 | 106 | 1287 | 93761879-93761937, 93761949-93761961, 93761986, 93762000-93762001, 93762025-93762053, 93768346-93768347 |
| 388 | CPOX | 3 | 0.996336996337 | 5 | 1365 | 98312154, 98312193, 98312286-98312288 |
| 389 | ACAD9 | 3 | 0.9989281886388 | 2 | 1866 | 128623289, 128623336 |
| 390 | NPHP3 | 3 | 0.99373904332582 | 25 | 3993 | 132438631-132438649, 132441082-132441087 |
| 391 | FOXL2 | 3 | 0.96463306808134 | 40 | 1131 | 138664656-138664657, 138664699-138664701, 138664808-138664812, 138664836-138664839, 138664870-138664892, 138664899, 138665048-138665049 |
| 392 | PLOD2 | 3 | 0.99648660518226 | 8 | 2277 | 145804641-145804648 |
| 393 | ALG3 | 3 | 0.99468488990129 | 7 | 1317 | 183960369-183960370, 183966595-183966599 |
| 394 | OPA1 | 3 | 0.99573490813648 | 13 | 3048 | 193355006-193355018 |
| 395 | CPN2 | 3 | 0.996336996337 | 6 | 1638 | 194061806-194061807, 194063115-194063118 |
| 396 | PDE6B | 4 | 0.95087719298246 | 126 | 2565 | 647641-647653, 647677, 647680-647681, 647870-647888, 647894-647896, 648675-648677, 649729-649733, 649771-649772, 650687, 650787-650793, 651223-651261, 651273-651274, 652741-652754, 655970, 657653-657654, 657658, 663886-663896 |
| 397 | IDUA | 4 | 0.36595310907238 | 1244 | 1962 | 980873-981030, 981602-981683, 981698-981710, 981715, 981725, 994461-994485, 994758-994777, 995497, 995506-995557, 995571-995620, 995640-995669, 995778-995788, 995814-995844, 995861, 995872-995878, 995894-995924, 995946-995949, 996057-996114, 996142-996148, 996158-996273, 996520-996732, 996824-996945, 997133-997222, 997233, 997237, 997241-997246, 997253, 997257, 997337-997378, 997382, 997396-997413, 997864-997867, 997895-997896, 998048-998090 |
| 398 | FGFR3 | 4 | 0.55706633704162 | 1075 | 2427 | 1795662-1795714, 1795722-1795770, 1800998-1801099, 1801114-1801147, 1801176-1801230, 1801244-1801250, 1801474-1801481, 1801511-1801515, 1801520-1801539, 1803098-1803106, 1803122-1803178, 1803187-1803194, 1803214-1803263, 1803347-1803399, 1803418-1803425, 1803447-1803470, 1803562-1803565, 1803583-1803698, 1803713-1803720, 1803731-1803752, 1804663, 1804672, 1804678, 1804681-1804685, 1804713-1804757, 1806057-1806071, 1806092-1806102, 1806200-1806241, 1806594-1806606, 1806628, 1806660, 1806664-1806665, 1807082-1807099, 1807126-1807145, 1807286-1807289, 1807337, 1807375-1807393, 1807497-1807505, 1807538-1807547, 1807612-1807619, 1807847, 1807853, 1807894, 1807898-1807899, 1807988-1807995, 1807998-1808000, 1808051-1808054, 1808314-1808329, 1808341, 1808347, 1808360-1808363, 1808382, 1808396-1808397, 1808408-1808410, 1808556-1808590, 1808628, 1808638-1808644, 1808647, 1808866, 1808892-1808918, 1808933-1808946, 1808949, 1808952, 1808962-1808981 |
| 399 | SH3BP2 | 4 | 0.98276790522348 | 32 | 1857 | 2819963-2819969, 2819974-2819975, 2819998-2820020 |
| 400 | HTT | 4 | 0.97815250821932 | 206 | 9429 | 3076604-3076606, 3076615-3076640, 3076647-3076661, 3076666-3076684, 3076687-3076705, 3076741-3076744, 3076791-3076806, 3180035, 3213800-3213804, 3213807, 3234910-3234913, 3234960-3234972, 3234981, 3240311-3240332, 3240562, 3240591-3240600, 3240609-3240611, 3240670, 3240702, 3241746-3241786 |
| 401 | DOK7 | 4 | 0.41320132013201 | 889 | 1515 | 3465115-3465127, 3465133-3465156, 3465233-3465278, 3475133-3475145, 3475163, 3475166, 3475221, 3475271-3475306, 3478069-3478098, 3478106-3478118, 3478128-3478175, 3478183-3478188, 3478198-3478269, 3487275-3487305, 3487326-3487343, 3487377-3487385, 3491450, 3491496, 3491504-3491511, 3491522, 3494494, 3494505, 3494519-3494563, 3494573-3494582, 3494596-3494665, 3494675-3494690, 3494692-3494693, 3494699, 3494702-3494703, 3494720-3494722, 3494730-3494758, 3494764-3494881, 3494894-3494903, 3494925-3494937, 3494947, 3494955-3494968, 3494984, 3494990, 3494994-3495084, 3495105-3495110, 3495122, 3495138-3495192, 3495202-3495226 |
| 402 | DOK7 | 4 | 0.28257191201354 | 424 | 591 | 3494494, 3494505, 3494519-3494563, 3494573-3494582, 3494596-3494665, 3494675-3494690, 3494692-3494693, 3494699, 3494702-3494703, 3494720-3494722, 3494730-3494758, 3494764-3494881, 3494894-3494903, 3494925-3494937, 3494947, 3494955-3494968, 3494984, 3494990, 3494994-3495079 |
| 403 | EVC2 | 4 | 0.99923605805959 | 3 | 3927 | 5710158-5710159, 5710228 |
| 404 | EVC | 4 | 0.96273917421954 | 111 | 2979 | 5713108-5713218 |
| 405 | QDPR | 4 | 0.92789115646259 | 53 | 735 | 17513573-17513625 |
| 406 | COQ2 | 4 | 0.97662337662338 | 27 | 1155 | 84205758, 84205887-84205912 |
| 407 | PKD2 | 4 | 0.95837633298934 | 121 | 2907 | 88928897-88928969, 88929029-88929073, 88929279, 88929287-88929288 |
| 408 | CISD2 | 4 | 0.97303921568627 | 11 | 408 | 103808512-103808522 |
| 409 | CFI | 4 | 0.99942922374429 | 1 | 1752 | 110673635 |
| 410 | MFSD8 | 4 | 0.98394348105331 | 25 | 1557 | 128859945-128859968, 128886228 |
| 411 | GK | 4 | 0.99217809867629 | 13 | 1662 | 166200084-166200096 |
| 412 | SLC25A4 | 4 | 0.98550724637681 | 13 | 897 | 186064561-186064570, 186064626-186064628 |
| 413 | SDHA | 5 | 0.99548872180451 | 9 | 1995 | 223682-223683, 251562-251568 |
| 414 | SLC6A19 | 5 | 0.7758530183727 | 427 | 1905 | 1201766-1201785, 1201806-1201876, 1201896-1201946, 1201952-1201967, 1208874-1208877, 1208886-1208888, 1208927, 1208930, 1208934, 1208938, 1208944-1208945, 1208994-1209001, 1210559-1210573, 1210580-1210592, 1210597-1210602, 1210638, 1212475-1212489, 1213578-1213684, 1214068-1214072, 1214075-1214085, 1214095-1214108, 1214150, 1216773-1216775, 1219018-1219062, 1219099-1219101, 1219209, 1219221, 1219719-1219725 |
| 415 | TERT | 5 | 0.51426890261842 | 1651 | 3399 | 1253856, 1253863, 1253866, 1255492, 1258714-1258743, 1258752-1258760, 1258769-1258770, 1264519-1264554, 1264666-1264673, 1264701-1264707, 1266614-1266627, 1268635-1268748, 1271234-1271319, 1272300-1272395, 1278756-1278763, 1278781-1278783, 1278827, 1278830-1278857, 1278887-1278905, 1279406-1279553, 1279570-1279573, 1279577-1279579, 1280281-1280290, 1280293-1280296, 1280320-1280388, 1280396-1280436, 1282589, 1282648-1282651, 1282710-1282722, 1293438-1293461, 1293502-1293509, 1293593-1293609, 1293643-1293645, 1293649, 1293674, 1293712-1293752, 1293778, 1293781-1293783, 1293794, 1293851-1293890, 1293901-1293925, 1293951-1294003, 1294017-1294035, 1294042-1294043, 1294086, 1294094-1294096, 1294102-1294113, 1294165-1294167, 1294171, 1294199-1294285, 1294310-1294344, 1294414-1294433, 1294455-1294486, 1294539-1294781, 1294892-1295104 |
| 416 | SLC6A3 | 5 | 0.66559312936125 | 623 | 1863 | 1406315-1406337, 1406375-1406403, 1409151-1409173, 1409202-1409207, 1409216, 1409234-1409240, 1409836-1409861, 1409872-1409937, 1409956-1409964, 1411358-1411437, 1411444-1411470, 1414806-1414930, 1416213-1416266, 1416290-1416304, 1420685-1420700, 1420736-1420739, 1420747-1420756, 1420789-1420818, 1422010-1422013, 1422023-1422036, 1422038-1422050, 1422058-1422085, 1422117-1422129 |
| 417 | SDHA | 5 | 0.99694189602446 | 1 | 327 | 1594569 |
| 418 | FAM134B | 5 | 0.97724230254351 | 34 | 1494 | 16616831-16616833, 16616884-16616900, 16616918-16616927, 16617010, 16617013-16617015 |
| 419 | NIPBL | 5 | 0.99643493761141 | 30 | 8415 | 37036576-37036589, 37048662, 37048669-37048677, 37059103-37059108 |
| 420 | ERCC8 | 5 | 0.99916036943745 | 1 | 1191 | 60200641 |
| 421 | HEXB | 5 | 0.99760622381807 | 4 | 1671 | 73981144-73981147 |
| 422 | RASA1 | 5 | 0.99936386768448 | 2 | 3144 | 86670118, 86670131 |
| 423 | LMNB1 | 5 | 0.91879613855764 | 143 | 1761 | 126113201-126113212, 126113251-126113257, 126113301, 126113304, 126113363-126113406, 126113416-126113419, 126113424-126113440, 126113457-126113480, 126113498-126113511, 126113547-126113559, 126156781-126156786 |
| 424 | SLC22A5 | 5 | 0.99940262843489 | 1 | 1674 | 131705811 |
| 425 | MYOT | 5 | 0.97595190380762 | 36 | 1497 | 137221828, 137221848-137221882 |
| 426 | SIL1 | 5 | 0.9992784992785 | 1 | 1386 | 138282996 |
| 427 | PPP2R2B | 5 | 0.99774774774775 | 3 | 1332 | 146077602, 146077607-146077608 |
| 428 | TCOF1 | 5 | 0.99885215794307 | 5 | 4356 | 149754700-149754702, 149754705, 149767637 |
| 429 | GABRG2 | 5 | 0.99935400516796 | 1 | 1548 | 161495057 |
| 430 | MSX2 | 5 | 0.94029850746269 | 48 | 804 | 174151728-174151775 |
| 431 | F12 | 5 | 0.93127705627706 | 127 | 1848 | 176830502-176830504, 176830515-176830518, 176830546-176830550, 176830948-176830977, 176830988-176830989, 176831024, 176831076, 176831079-176831082, 176831197, 176831240, 176831244, 176831249-176831252, 176831336, 176831375-176831379, 176831509-176831548, 176831619-176831631, 176831835, 176831852, 176832063-176832071 |
| 432 | GRM6 | 5 | 0.97722095671982 | 60 | 2634 | 178416004, 178416013, 178416066-178416070, 178421584-178421587, 178421590, 178421659-178421690, 178421693, 178421788, 178421908-178421914, 178421935, 178421940-178421945 |
| 433 | SQSTM1 | 5 | 0.94557823129252 | 72 | 1323 | 179247939-179247945, 179248002-179248008, 179248038-179248041, 179248043-179248068, 179248074-179248080, 179248119, 179248122-179248141 |
| 434 | FLT4 | 5 | 0.35557184750733 | 2637 | 4092 | 180043393-180043395, 180043463-180043489, 180045770-180045873, 180045892-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046724, 180046749-180046769, 180047173-180047219, 180047233-180047259, 180047275, 180047278-180047281, 180047286-180047308, 180047609-180047659, 180047677-180047715, 180047895-180048007, 180048112-180048252, 180048542-180048589, 180048626-180048651, 180048664-180048730, 180048737-180048743, 180048764, 180048767-180048768, 180048790, 180048805-180048806, 180048809-180048810, 180048820-180048836, 180048857-180048894, 180049739-180049777, 180049803, 180050935-180050971, 180050979-180051061, 180052869-180053031, 180053111-180053127, 180053132, 180053149-180053259, 180053265, 180055882-180055999, 180056259-180056427, 180056696-180056826, 180056832-180056835, 180056950-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076499-180076545 |
| 435 | FOXC1 | 6 | 0.68471720818291 | 524 | 1662 | 1610768-1610770, 1610772-1610773, 1610797-1610800, 1610822, 1610830, 1610926, 1611051-1611090, 1611271-1611273, 1611276-1611293, 1611306-1611312, 1611329-1611364, 1611393-1611397, 1611403-1611529, 1611543-1611629, 1611637-1611714, 1611720-1611749, 1611763-1611779, 1611796-1611825, 1611926-1611934, 1612013, 1612016-1612036, 1612142-1612144 |
| 436 | TUBB2B | 6 | 0.9932735426009 | 9 | 1338 | 3225246-3225247, 3225576-3225582 |
| 437 | ATXN1 | 6 | 0.95996732026144 | 98 | 2448 | 16327862-16327959 |
| 438 | ALDH5A1 | 6 | 0.99696417729205 | 5 | 1647 | 24495298, 24495395-24495398 |
| 439 | HLA-H | 6 | 0.65333333333333 | 260 | 750 | 29855764-29855768, 29855797-29855823, 29855851-29855875, 29855898, 29855901-29855903, 29855930, 29855935, 29855938-29855941, 29855945, 29855952, 29855995-29856001, 29856268, 29856272-29856275, 29856287-29856289, 29856297-29856313, 29856347, 29856353, 29856368, 29856389, 29856424-29856448, 29856466-29856476, 29856502-29856568, 29856578-29856614, 29856643, 29856679, 29856686, 29856744-29856755 |
| 440 | NEU1 | 6 | 0.99439102564103 | 7 | 1248 | 31830440-31830442, 31830544-31830547 |
| 441 | TNXB | 6 | 0.95645412130638 | 84 | 1929 | 31977525-31977555, 31978782-31978815, 31979034-31979046, 31979454, 31979457-31979459, 31980000, 31980074 |
| 442 | CYP21A2 | 6 | 0.99798387096774 | 3 | 1488 | 32006317, 32006337, 32007887 |
| 443 | TNXB | 6 | 0.99905727079896 | 12 | 12729 | 32012303-32012313, 32029211 |
| 444 | HLA-DQA1 | 6 | 0.97005208333333 | 23 | 768 | 32609952, 32609969, 32609974, 32610387-32610406 |
| 445 | HLA-DQB1 | 6 | 0.71119592875318 | 227 | 786 | 32629124-32629173, 32629224-32629234, 32629932-32629958, 32632575-32632670, 32632687-32632688, 32632691-32632731 |
| 446 | SYNGAP1 | 6 | 0.98338293650794 | 67 | 4032 | 33388042-33388108 |
| 447 | FANCE | 6 | 0.97765363128492 | 36 | 1611 | 35420391-35420426 |
| 448 | TULP1 | 6 | 0.99017802332719 | 16 | 1629 | 35479957-35479972 |
| 449 | MOCS1 | 6 | 0.78231292517007 | 416 | 1911 | 39893422-39893589, 39895068-39895315 |
| 450 | PEX6 | 6 | 0.99762147468569 | 7 | 2943 | 42946467-42946468, 42946471, 42946531-42946532, 42946657-42946658 |
| 451 | RSPH9 | 6 | 0.99879663056558 | 1 | 831 | 43612847 |
| 452 | RUNX2 | 6 | 0.985312899106 | 23 | 1566 | 45390463-45390466, 45390470, 45390478, 45390481, 45390484-45390496, 45390503-45390505 |
| 453 | MUT | 6 | 0.97470039946738 | 57 | 2253 | 49409564-49409608, 49409622, 49409626, 49409630, 49409634-49409642 |
| 454 | PKHD1 | 6 | 0.99705521472393 | 36 | 12225 | 51929813-51929848 |
| 455 | LMBRD1 | 6 | 0.99815157116451 | 3 | 1623 | 70462179-70462181 |
| 456 | RIMS1 | 6 | 0.99881866509155 | 6 | 5079 | 73001685-73001688, 73023337-73023338 |
| 457 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80202342 |
| 458 | OSTM1 | 6 | 0.90547263681592 | 95 | 1005 | 108395483-108395485, 108395575-108395605, 108395699-108395702, 108395728-108395735, 108395784-108395809, 108395831-108395853 |
| 459 | LAMA2 | 6 | 0.99978639325003 | 2 | 9363 | 129513906-129513907 |
| 460 | ENPP1 | 6 | 0.98776097912167 | 34 | 2778 | 132129176-132129196, 132129205-132129206, 132129223, 132129249-132129256, 132129285, 132129306 |
| 461 | SYNE1 | 6 | 0.99996211260135 | 1 | 26394 | 152644739 |
| 462 | TBP | 6 | 0.9843137254902 | 16 | 1020 | 170871037, 170871040, 170871043, 170871046, 170871049, 170871054-170871057, 170871063, 170871067, 170871070, 170871073, 170871076, 170871079, 170871082 |
| 463 | LFNG | 7 | 0.49035087719298 | 581 | 1140 | 2559496-2559927, 2564340-2564347, 2564880-2564888, 2564915, 2564922-2564934, 2564939, 2565060, 2565072-2565074, 2565095-2565103, 2565107, 2565114-2565118, 2565126-2565136, 2565185, 2565319-2565320, 2565370-2565390, 2565878-2565881, 2565906-2565910, 2566005-2566007, 2566014-2566015, 2566034, 2566473-2566519, 2566844 |
| 464 | PMS2 | 7 | 0.90691386635767 | 241 | 2589 | 6026390-6026395, 6026535, 6026613-6026618, 6026623, 6026988, 6027021, 6029432-6029482, 6029511-6029531, 6038788-6038800, 6042143, 6042163-6042173, 6042189-6042228, 6043676, 6045529-6045572, 6045594-6045635, 6048632 |
| 465 | TWIST1 | 7 | 0.63546798029557 | 222 | 609 | 19156551-19156558, 19156587-19156591, 19156647-19156648, 19156660-19156663, 19156674-19156722, 19156730-19156734, 19156741-19156742, 19156745-19156746, 19156748, 19156751-19156883, 19156903-19156904, 19156910-19156918 |
| 466 | DNAH11 | 7 | 0.99764220453876 | 32 | 13572 | 21630563-21630584, 21784603, 21923909-21923917 |
| 467 | HOXA13 | 7 | 0.7172236503856 | 330 | 1167 | 27239203-27239214, 27239266-27239272, 27239312-27239472, 27239478, 27239495-27239578, 27239610-27239670, 27239681-27239684 |
| 468 | GCK | 7 | 0.99571734475375 | 6 | 1401 | 44191873-44191878 |
| 469 | CCM2 | 7 | 0.92808988764045 | 96 | 1335 | 45039933-45039962, 45113092-45113094, 45113166-45113167, 45113878-45113922, 45115598-45115599, 45115611, 45115640-45115652 |
| 470 | EGFR | 7 | 0.98788879713735 | 44 | 3633 | 55086983-55087024, 55220301-55220302 |
| 471 | ASL | 7 | 0.81433691756272 | 259 | 1395 | 65546980, 65548110, 65551572-65551575, 65551608, 65551614, 65551624-65551628, 65551731-65551741, 65551747, 65551803-65551805, 65552732-65552767, 65553817-65553842, 65553890-65553908, 65554078-65554124, 65554264-65554275, 65554292-65554294, 65554599-65554614, 65554668-65554677, 65556993-65557000, 65557024, 65557033, 65557044, 65557627-65557630, 65557755-65557758, 65557805, 65557832-65557864, 65557891-65557899 |
| 472 | KCTD7 | 7 | 0.96091954022989 | 34 | 870 | 66094125, 66094132, 66094135-66094138, 66094150, 66094161-66094162, 66094171-66094195 |
| 473 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66456158-66456164 |
| 474 | NCF1 | 7 | 0.84727272727273 | 126 | 825 | 72637917-72637918, 72639947-72639973, 72639983-72639998, 72640033-72640039, 72643703-72643716, 72644230-72644253, 72645924-72645930, 72648722-72648750 |
| 475 | ELN | 7 | 0.94298850574713 | 124 | 2175 | 73442518-73442546, 73442558, 73442563-73442579, 73442593, 73442596-73442598, 73456955, 73457002, 73466139-73466153, 73466161, 73466261-73466302, 73467493-73467502, 73467521, 73471994, 73477684 |
| 476 | NCF1 | 7 | 0.92497868712702 | 88 | 1173 | 74193665-74193680, 74199575, 74202418-74202431, 74202950-74202951, 74202974, 74202984-74203029, 74203383-74203384, 74203389, 74203464-74203466, 74203495-74203496 |
| 477 | POR | 7 | 0.4635340186001 | 1096 | 2043 | 75608773-75608783, 75609704-75609709, 75610375-75610386, 75610395, 75610420-75610449, 75610486-75610490, 75610867-75610868, 75610871, 75611622-75611640, 75612844-75612888, 75612918-75612923, 75612940-75612954, 75613083-75613152, 75613159-75613174, 75614095-75614096, 75614141-75614276, 75614376-75614525, 75614897-75615119, 75615129-75615167, 75615241-75615386, 75615480-75615486, 75615495-75615559, 75615670-75615719, 75615735-75615753, 75615780-75615799 |
| 478 | HSPB1 | 7 | 0.97249190938511 | 17 | 618 | 75932064-75932070, 75932244-75932246, 75932251, 75932257-75932260, 75932301-75932302 |
| 479 | CD36 | 7 | 0.99929527836505 | 1 | 1419 | 80300417 |
| 480 | AKAP9 | 7 | 0.99974411463664 | 3 | 11724 | 91690701-91690703 |
| 481 | MET | 7 | 0.99928109273904 | 3 | 4173 | 116339590-116339592 |
| 482 | CFTR | 7 | 0.97771775827144 | 99 | 4443 | 117188713-117188753, 117188760-117188800, 117188842-117188853, 117188874-117188877, 117235020 |
| 483 | AASS | 7 | 0.99964041711615 | 1 | 2781 | 121769522 |
| 484 | IMPDH1 | 7 | 0.99277777777778 | 13 | 1800 | 128045905, 128049501, 128049833, 128049836-128049838, 128049846-128049848, 128049862-128049865 |
| 485 | FLNC | 7 | 0.98300317926143 | 139 | 8178 | 128470692-128470702, 128470741-128470746, 128470806-128470838, 128470858-128470906, 128471011-128471023, 128471043, 128477276-128477289, 128477292-128477296, 128498187-128498193 |
| 486 | BRAF | 7 | 0.99087353324641 | 21 | 2301 | 140624400-140624420 |
| 487 | PRSS1 | 7 | 0.94758064516129 | 39 | 744 | 142460332-142460338, 142460366-142460397 |
| 488 | KCNH2 | 7 | 0.97729885057471 | 79 | 3480 | 150671849, 150671889-150671890, 150674926-150675001 |
| 489 | PRKAG2 | 7 | 0.99356725146199 | 11 | 1710 | 151272004-151272005, 151329214-151329221, 151372612 |
| 490 | SHH | 7 | 0.56083513318934 | 610 | 1389 | 155595594-155595600, 155595608-155595633, 155595674-155595765, 155595785-155595851, 155595868-155595922, 155595935-155595993, 155595999-155596004, 155596037-155596103, 155596123-155596205, 155596213-155596216, 155596225-155596238, 155596247, 155596264-155596289, 155596310-155596377, 155599040-155599059, 155604776-155604790 |
| 491 | MNX1 | 7 | 0.63266998341625 | 443 | 1206 | 156798271, 156798276-156798282, 156798388-156798403, 156799264-156799270, 156802479-156802484, 156802524-156802555, 156802595-156802599, 156802621-156802881, 156802891-156802924, 156802935-156802953, 156802978-156803030, 156803037-156803038 |
| 492 | CLN8 | 8 | 0.99767711962834 | 2 | 861 | 1719518-1719519 |
| 493 | GATA4 | 8 | 0.89315274642588 | 142 | 1329 | 11565834-11565840, 11565856-11565889, 11565896-11565948, 11565967-11565974, 11566124, 11566135, 11566191-11566197, 11566232, 11566249-11566252, 11566333-11566350, 11566405, 11566407-11566411, 11566415-11566416 |
| 494 | TUSC3 | 8 | 0.99904489016237 | 1 | 1047 | 15397973 |
| 495 | HGSNAT | 8 | 0.94968553459119 | 96 | 1908 | 42995640-42995735 |
| 496 | TMEM70 | 8 | 0.99489144316731 | 4 | 783 | 74888561-74888564 |
| 497 | GDF6 | 8 | 0.99926900584795 | 1 | 1368 | 97157386 |
| 498 | VPS13B | 8 | 0.99983324995831 | 2 | 11994 | 100844597-100844598 |
| 499 | KCNQ3 | 8 | 0.99618174875907 | 10 | 2619 | 133492572-133492578, 133492777-133492779 |
| 500 | SLURP1 | 8 | 0.038461538461538 | 300 | 312 | 143822561-143822694, 143823221-143823275, 143823285-143823340, 143823749-143823803 |
| 501 | CYP11B1 | 8 | 0.98611111111111 | 21 | 1512 | 143958513-143958533 |
| 502 | CYP11B2 | 8 | 0.99669312169312 | 5 | 1512 | 143993951-143993953, 143996539, 143996553 |
| 503 | PLEC | 8 | 0.64553539665599 | 4982 | 14055 | 144990360-144990372, 144990426-144990431, 144990485, 144990488-144990491, 144990494, 144990502, 144990506-144990509, 144990536-144990537, 144990845, 144990849-144990853, 144992392-144992400, 144992437-144992463, 144992609-144992611, 144992696-144992700, 144992819-144992820, 144993110-144993117, 144993330-144993336, 144993610-144993613, 144993669-144993679, 144993705-144993720, 144993844-144993847, 144993921-144993924, 144993959, 144994286, 144994382-144994404, 144994458, 144994463, 144994620-144994624, 144994775, 144994789, 144994966-144994971, 144994977-144994981, 144995123, 144995346, 144995349, 144995352, 144995364-144995371, 144995376, 144995552-144995554, 144995623-144995638, 144995677, 144995684, 144995793-144995836, 144995879, 144995886-144995916, 144995919-144995920, 144995967-144995971, 144996029, 144996039-144996040, 144996069, 144996075, 144996089, 144996126, 144996175-144996180, 144996190-144996199, 144996202, 144996206, 144996220-144996295, 144996318-144996319, 144996379-144996386, 144996399-144996409, 144996412-144996417, 144996526-144996561, 144996672-144996752, 144996865-144996866, 144996955, 144996995-144997003, 144997070-144997146, 144997312-144997317, 144997349, 144997390, 144997440-144997486, 144997499-144997519, 144997536-144997548, 144997562, 144997656, 144997662, 144997671-144997685, 144997710, 144997730-144997734, 144997765, 144997768, 144997772-144997786, 144997837-144997890, 144997896, 144997900-144997902, 144997911-144997937, 144997970-144997999, 144998022, 144998026, 144998029-144998030, 144998050-144998082, 144998108, 144998131-144998149, 144998158, 144998169, 144998180-144998182, 144998184, 144998220-144998239, 144998270-144998272, 144998281-144998284, 144998293-144998300, 144998311-144998312, 144998319-144998321, 144998326-144998345, 144998359, 144998374-144998379, 144998383-144998387, 144998436-144998532, 144998539-144998556, 144998602-144998725, 144998735-144998778, 144998792-144998830, 144998851-144998933, 144998943-144998945, 144998952-144999074, 144999100-144999136, 144999150-144999564, 144999586-144999672, 144999684, 144999693-144999721, 144999731, 144999756-144999771, 144999778-144999993, 145000021-145000052, 145000952-145000958, 145000995-145001035, 145001049, 145001152-145001192, 145001206-145001249, 145001420-145001428, 145001445-145001503, 145001578-145001632, 145001680-145001685, 145001710-145001864, 145001871-145001898, 145001906-145001924, 145002022-145002060, 145002076-145002136, 145003271-145003298, 145003325-145003327, 145003338, 145003368-145003375, 145003381-145003393, 145003432, 145003448, 145003587, 145003614-145003678, 145003814-145003856, 145003873, 145003886, 145003906-145003948, 145004104-145004106, 145004122-145004150, 145004189-145004230, 145004312-145004349, 145004359-145004386, 145004561-145004614, 145004660-145004690, 145005702-145005778, 145005819-145005827, 145006105-145006200, 145006298-145006402, 145006568-145006574, 145006591-145006613, 145006626-145006630, 145006638-145006652, 145006663-145006729, 145006803-145006880, 145006961-145007034, 145007040-145007084, 145007095-145007152, 145007155-145007180, 145007209-145007259, 145007270, 145007379-145007398, 145007422-145007427, 145007493-145007514, 145008166-145008259, 145008491, 145008499-145008511, 145008529-145008564, 145008567-145008571, 145008576, 145008583, 145008803-145008806, 145008868-145008892, 145008978-145009011, 145009032-145009062, 145009077-145009097, 145009179-145009190, 145009219-145009228, 145009236-145009266, 145009366-145009377, 145009384-145009391, 145009396-145009417, 145009462-145009480, 145010016-145010026, 145010042-145010061, 145010067-145010155, 145010176-145010182, 145011147-145011186, 145011204-145011239, 145011340-145011385, 145012322, 145012326-145012328, 145012331-145012351, 145012378-145012408, 145024369-145024414, 145024477-145024493, 145024537-145024556, 145024569-145024590, 145024701-145024712, 145024801-145024807, 145024840-145024849 |
| 504 | GPT | 8 | 0.25821596244131 | 1106 | 1491 | 145729778-145729811, 145729832, 145729838-145729843, 145730046-145730071, 145730214-145730262, 145730384-145730398, 145730430, 145730489-145730514, 145730631-145730865, 145731231-145731310, 145731378-145731500, 145731507-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732225, 145732293-145732306, 145732323, 145732326-145732328, 145732331-145732359, 145732372-145732383 |
| 505 | RECQL4 | 8 | 0.31623931623932 | 2480 | 3627 | 145736814-145736938, 145737064-145737120, 145737127-145737172, 145737294-145737450, 145737527-145737707, 145737775-145737897, 145737912-145737944, 145738025-145738072, 145738094-145738154, 145738230-145738336, 145738356-145738393, 145738406-145738521, 145738601-145738603, 145738609-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739356, 145739388-145739393, 145739398-145739425, 145739431-145739489, 145739573-145739575, 145739609, 145739612, 145739621, 145739632-145739634, 145739653-145739669, 145739672-145739674, 145739678-145739685, 145739698-145739728, 145739744-145739746, 145739826-145739835, 145739862-145739864, 145739885-145739909, 145740343-145740354, 145740368-145740372, 145740385-145740409, 145740534-145740538, 145740589-145740607, 145740726-145740728, 145740752-145740759, 145740804, 145741158-145741197, 145741263-145741264, 145741379-145741381, 145741385-145741390, 145741395-145741396, 145741417-145741419, 145741423-145741434, 145741449, 145741456-145741458, 145741461, 145741468, 145741487, 145741499, 145741514-145741534, 145741559-145741565, 145741569-145741634, 145741646-145741731, 145741784-145741791, 145741819-145741820, 145741823-145741835, 145741843-145741868, 145741872-145741874, 145741896-145741920, 145741931-145741966, 145741993-145741999, 145742027-145742047, 145742080, 145742114-145742124, 145742131, 145742135-145742136, 145742434-145742438, 145742472-145742478, 145742503-145742510, 145742528-145742574, 145742811-145742813, 145742816-145742878, 145742986-145743019, 145743085-145743168 |
| 506 | DOCK8 | 9 | 0.99587301587302 | 26 | 6300 | 396824, 396932-396934, 399146-399150, 399172-399179, 404922, 406969, 452052-452058 |
| 507 | VLDLR | 9 | 0.97368421052632 | 69 | 2622 | 2622190-2622254, 2622268-2622271 |
| 508 | GLDC | 9 | 0.9879203395364 | 37 | 3063 | 6645321, 6645366-6645386, 6645480-6645481, 6645487-6645499 |
| 509 | VCP | 9 | 0.99339116067741 | 16 | 2421 | 35072335-35072350 |
| 510 | FANCG | 9 | 0.99946495452113 | 1 | 1869 | 35078276 |
| 511 | ROR2 | 9 | 0.97775423728814 | 63 | 2832 | 94712174-94712191, 94712201-94712245 |
| 512 | PTCH1 | 9 | 0.97467771639042 | 110 | 4344 | 98270478-98270483, 98270519-98270565, 98270568, 98270588-98270643 |
| 513 | FOXE1 | 9 | 0.96702317290553 | 37 | 1122 | 100616269, 100616583-100616586, 100616684, 100616698-100616721, 100616753, 100616760-100616765 |
| 514 | TGFBR1 | 9 | 0.96626984126984 | 51 | 1512 | 101867505-101867510, 101867518-101867523, 101867543-101867544, 101867548-101867584 |
| 515 | ALAD | 9 | 0.99697885196375 | 3 | 993 | 116155727-116155729 |
| 516 | NR5A1 | 9 | 0.96681096681097 | 46 | 1386 | 127245168-127245180, 127253470, 127262539-127262546, 127262748, 127262763-127262766, 127262840, 127265358, 127265412, 127265415, 127265573-127265585, 127265653, 127265670 |
| 517 | LMX1B | 9 | 0.99731903485255 | 3 | 1119 | 129376851-129376853 |
| 518 | GLE1 | 9 | 0.99952312827849 | 1 | 2097 | 131267170 |
| 519 | DOLK | 9 | 0.98144712430427 | 30 | 1617 | 131708486-131708493, 131709022-131709032, 131709288-131709291, 131709512-131709518 |
| 520 | SETX | 9 | 0.9991287030122 | 7 | 8034 | 135158742-135158748 |
| 521 | TSC1 | 9 | 0.99942775393419 | 2 | 3495 | 135771925, 135772852 |
| 522 | CEL | 9 | 0.78996036988111 | 477 | 2271 | 135937445-135937455, 135944192-135944198, 135944521-135944527, 135946012-135946018, 135946466-135946469, 135946472-135946477, 135946519-135946534, 135946544-135946548, 135946566-135946591, 135946643-135947002, 135947024, 135947030, 135947034, 135947040-135947064 |
| 523 | SURF1 | 9 | 0.98449612403101 | 14 | 903 | 136223167, 136223171-136223175, 136223277, 136223279, 136223293-136223296, 136223313, 136223326 |
| 524 | ADAMTS13 | 9 | 0.92436974789916 | 324 | 4284 | 136293754-136293884, 136293890-136293891, 136295059-136295074, 136295098-136295109, 136295139, 136295142-136295161, 136295168-136295221, 136297771, 136298520-136298527, 136298603-136298609, 136302013, 136302931-136302932, 136305641-136305646, 136307583-136307593, 136307826-136307840, 136308503-136308511, 136308521, 136310874-136310875, 136310890-136310892, 136319687, 136319695-136319697, 136320565, 136320575, 136320609-136320610, 136320651-136320655, 136321271-136321272, 136321770-136321774, 136321817, 136324239 |
| 525 | DBH | 9 | 0.9368932038835 | 117 | 1854 | 136505007-136505023, 136516756-136516789, 136516824-136516825, 136522240-136522280, 136522342-136522348, 136523520-136523535 |
| 526 | SARDH | 9 | 0.93906420021763 | 168 | 2757 | 136531857-136531865, 136535713, 136535717-136535727, 136535747-136535773, 136535789-136535868, 136536679, 136536716, 136536724-136536733, 136536793, 136550351-136550353, 136555613, 136559380-136559389, 136559413-136559424, 136559433 |
| 527 | COL5A1 | 9 | 0.92115280043502 | 435 | 5517 | 137534034-137534129, 137534142, 137582758-137582766, 137582771-137582775, 137582844-137582876, 137582914, 137591755-137591770, 137591800-137591849, 137591855-137591867, 137591878, 137591893-137591921, 137591929-137591935, 137591943-137591963, 137593028-137593062, 137593092-137593154, 137593166-137593179, 137623475, 137623478-137623480, 137642702-137642708, 137642719-137642728, 137646151-137646153, 137646159, 137653771-137653773, 137671989-137671992, 137677874-137677882 |
| 528 | LHX3 | 9 | 0.80645161290323 | 234 | 1209 | 139089177, 139089187-139089189, 139089303, 139089381-139089395, 139089440, 139089444-139089452, 139089500-139089501, 139090498, 139090554-139090559, 139090607-139090608, 139090621, 139090754-139090788, 139090797-139090831, 139090875-139090905, 139091542-139091543, 139091622-139091627, 139091630-139091633, 139091644, 139091684-139091689, 139094792, 139094815-139094885 |
| 529 | INPP5E | 9 | 0.83255813953488 | 324 | 1935 | 139326276, 139326293, 139326297-139326314, 139326365-139326366, 139326376, 139327008-139327010, 139327502, 139327607-139327610, 139327690-139327712, 139333064-139333072, 139333084-139333089, 139333139-139333145, 139333150, 139333160-139333161, 139333172-139333198, 139333201-139333203, 139333215-139333222, 139333262-139333292, 139333316-139333376, 139333420-139333429, 139333520-139333557, 139333583-139333584, 139333618-139333647, 139333760, 139333825-139333858 |
| 530 | NOTCH1 | 9 | 0.18818466353678 | 6225 | 7668 | 139390523-139390545, 139390567-139390621, 139390632-139390796, 139390842-139391044, 139391097-139391166, 139391172-139391299, 139391308-139391442, 139391463-139391780, 139391797-139391926, 139391938-139391963, 139391967, 139391974, 139391985-139392005, 139392008-139392010, 139393385-139393387, 139393419-139393448, 139393581-139393588, 139393608-139393635, 139393666-139393669, 139393690, 139393708-139393711, 139395004-139395062, 139395082-139395299, 139396208-139396231, 139396249-139396275, 139396291, 139396298-139396334, 139396453-139396491, 139396523-139396531, 139396724-139396809, 139396830-139396940, 139397634-139397639, 139397644, 139397681, 139397685, 139397732-139397742, 139397746-139397750, 139397759-139397762, 139399125-139399128, 139399135-139399265, 139399282-139399328, 139399348-139399365, 139399372-139399385, 139399391, 139399394-139399395, 139399405-139399467, 139399487-139399556, 139399769-139399882, 139399889-139399896, 139399906-139399972, 139399988, 139399998-139400012, 139400035-139400072, 139400084-139400090, 139400100-139400333, 139400979, 139400985-139401030, 139401057-139401091, 139401172-139401224, 139401228, 139401235, 139401242-139401243, 139401250-139401263, 139401273-139401425, 139401757-139401825, 139401833-139401875, 139401881-139401889, 139402407-139402419, 139402443-139402453, 139402463-139402467, 139402502-139402535, 139402545-139402552, 139402558-139402559, 139402564, 139402570, 139402684-139402837, 139403322-139403411, 139403430-139403489, 139403511-139403523, 139404221-139404234, 139404277-139404301, 139404310-139404322, 139404412, 139405105-139405125, 139405143-139405153, 139405168-139405213, 139405235-139405257, 139405604-139405703, 139405713, 139405720-139405722, 139407473-139407586, 139407844-139407878, 139407881-139407893, 139407905-139407909, 139407922-139407923, 139407930, 139407935-139407978, 139408962-139409108, 139409115-139409154, 139409742-139409763, 139409774-139409852, 139409935-139410167, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412603, 139412606-139412609, 139412623-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438509-139438510, 139438538, 139438551-139438554, 139440178-139440238 |
| 531 | AGPAT2 | 9 | 0.62246117084827 | 316 | 837 | 139568204-139568246, 139568267-139568271, 139568286-139568325, 139568359-139568379, 139569198, 139569204-139569206, 139571078-139571081, 139571120, 139571469, 139571510-139571527, 139571570-139571576, 139571877-139571878, 139571883, 139581628-139581636, 139581650-139581809 |
| 532 | SLC34A3 | 9 | 0.65444444444444 | 622 | 1800 | 140127030-140127051, 140127103, 140127147-140127155, 140127263, 140127318, 140127456-140127469, 140127477-140127493, 140127718-140127721, 140127740, 140127747-140127758, 140127827, 140128097-140128098, 140128124-140128157, 140128315-140128343, 140128364-140128392, 140128561-140128648, 140128676-140128713, 140128727-140128728, 140128877-140128919, 140128941-140128951, 140128962, 140129097-140129101, 140129138, 140129146, 140129151, 140130405-140130450, 140130477-140130522, 140130545, 140130565-140130612, 140130622-140130627, 140130651-140130691, 140130710, 140130713, 140130761-140130782, 140130790-140130819, 140130832, 140130858-140130868 |
| 533 | EHMT1 | 9 | 0.83140877598152 | 657 | 3897 | 140513481-140513501, 140605439-140605482, 140611078-140611634, 140728974-140728976, 140729258-140729264, 140729268-140729290, 140729402, 140729405 |
| 534 | SHOX | X | 0.60523321956769 | 347 | 879 | 591633-591675, 591692-591697, 591701-591719, 591725-591872, 591878-591892, 591895-591900, 595356-595401, 595404, 595432-595445, 595461, 595464, 595470-595483, 595487, 595516-595519, 595527, 595530-595538, 595544-595561 |
| 535 | CSF2RA | X | 0.66513409961686 | 437 | 1305 | 1401623-1401626, 1401630-1401632, 1401667-1401668, 1404692-1404700, 1404710-1404719, 1404771-1404775, 1404802, 1407695-1407698, 1409291-1409382, 1413257-1413286, 1413303-1413354, 1414326-1414349, 1419384-1419519, 1422154-1422160, 1422177, 1422186-1422201, 1422214-1422227, 1422230-1422231, 1422242, 1422246-1422250, 1422816-1422831, 1422857-1422859 |
| 536 | KAL1 | X | 0.99657366617719 | 7 | 2043 | 8699982-8699988 |
| 537 | SMS | X | 0.98455949137148 | 17 | 1101 | 21958945-21958961 |
| 538 | ARX | X | 0.95322676139728 | 79 | 1689 | 25031461-25031486, 25031554, 25031653, 25031658-25031676, 25031711-25031735, 25031769-25031774, 25031788 |
| 539 | RPGR | X | 0.78317432784042 | 750 | 3459 | 38144817-38144832, 38145076-38145100, 38145105, 38145167-38145184, 38145211-38145218, 38145278-38145309, 38145316-38145408, 38145415-38145602, 38145614-38145869, 38145880-38145904, 38145911, 38145951-38145971, 38145997-38146023, 38146156-38146161, 38146225-38146228, 38146352-38146362, 38146376-38146378, 38146389-38146395, 38147149-38147151, 38147213-38147217 |
| 540 | NYX | X | 0.89349930843707 | 154 | 1446 | 41333050-41333052, 41333091-41333103, 41333142-41333174, 41333240-41333241, 41333248-41333282, 41333322, 41333326, 41333329-41333330, 41333339-41333347, 41333394-41333414, 41333442-41333451, 41333455, 41333460-41333466, 41333545-41333556, 41333562-41333563, 41333566, 41333600 |
| 541 | AR | X | 0.99601882012305 | 11 | 2763 | 66765164-66765166, 66765169-66765172, 66766359-66766362 |
| 542 | TAF1 | X | 0.99683210137276 | 18 | 5682 | 70586196-70586213 |
| 543 | SLC16A2 | X | 0.99782844733985 | 4 | 1842 | 73641398-73641401 |
| 544 | PCDH19 | X | 0.99062310949788 | 31 | 3306 | 99663454, 99663565-99663594 |
| 545 | XIAP | X | 0.99866131191432 | 2 | 1494 | 123025123-123025124 |
| 546 | ZIC3 | X | 0.99786324786325 | 3 | 1404 | 136648985-136648987 |
| 547 | SOX3 | X | 0.99179716629381 | 11 | 1341 | 139586476-139586486 |
| 548 | FAM58A | X | 0.99047619047619 | 7 | 735 | 152864514-152864520 |
| 549 | SLC6A8 | X | 0.89937106918239 | 192 | 1908 | 152954041-152954090, 152954104-152954192, 152954199-152954231, 152954254-152954273 |
| 550 | ABCD1 | X | 0.95308310991957 | 105 | 2238 | 152990902-152990913, 152990956-152990968, 152990998-152991015, 152991156-152991165, 152991186-152991187, 152991191-152991195, 152991254-152991262, 153008675-153008678, 153008981-153008987, 153009014-153009038 |
| 551 | L1CAM | X | 0.99894011658718 | 4 | 3774 | 153136519-153136522 |
| 552 | MECP2 | X | 0.97728790915164 | 34 | 1497 | 153363061-153363094 |
| 553 | OPN1LW | X | 0.98995433789954 | 11 | 1095 | 153418511-153418520, 153424291 |
| 554 | OPN1MW | X | 0.8958904109589 | 114 | 1095 | 153453337-153453343, 153453435-153453449, 153453474-153453496, 153455586, 153455590, 153455598, 153455641-153455674, 153457286-153457309, 153459077-153459083, 153461421 |
| 555 | OPN1MW | X | 0.85753424657534 | 156 | 1095 | 153490455-153490461, 153490553-153490567, 153490592-153490614, 153492704, 153492708, 153492716, 153492759-153492792, 153494404-153494427, 153496101-153496103, 153496121, 153496157-153496201, 153498539 |
| 556 | FLNA | X | 0.95984390735146 | 319 | 7944 | 153577389-153577397, 153577403, 153579286-153579291, 153580685-153580692, 153581023-153581028, 153581369-153581373, 153585821-153585834, 153585908-153585933, 153586573-153586579, 153587746-153587756, 153587761, 153587771, 153587858-153587873, 153588366, 153588414, 153588420-153588429, 153588850-153588868, 153588898-153588908, 153589759-153589763, 153589809-153589848, 153590347-153590356, 153590445-153590450, 153590617-153590624, 153590938-153590945, 153591033-153591039, 153592681-153592682, 153594392, 153594464-153594469, 153594484-153594485, 153594934-153594937, 153596096, 153596235-153596261, 153599489-153599501, 153599514-153599539 |
| 557 | EMD | X | 0.96862745098039 | 24 | 765 | 153608123-153608146 |
| 558 | TAZ | X | 0.9936628643853 | 5 | 789 | 153640204-153640207, 153640217 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 4 | GPD1L-I124V | het unknown | 0.001 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 4 | COL9A3-R103W | het unknown | 0.048 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 4 | COL9A3-A435E | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 3 | PRNP-M129V | homozygous | 0.340 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 |
| 2 | APOB-S4338N | het unknown | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-E4181K | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-P2739L | het unknown | 0.197 | 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-A618V | homozygous | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | CYP2C9-R144C | het unknown | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 2 | MEFV-V726A | het unknown | 0.002 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | MEFV-R202Q | het unknown | 0.178 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | TYR-R402Q | homozygous | 0.205 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (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 | MSH6-G39E | homozygous | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2 | MSH6-V878A | het unknown | 0.006 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | KEL-T193M | het unknown | 0.032 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 2 | PCSK9-A53V | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-V474I | het unknown | 0.817 | Unknown not reviewed | 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 | SEMA4A-R713Q | het unknown | 0.037 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests |
| 1.5 | KRT5-G543S | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | KRT5-S528G | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | KRT5-G138E | het unknown | 0.052 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | HNMT-T105I | het unknown | 0.077 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.821 (possibly damaging) |
| 1.5 | RPGRIP1L-G1025S | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | RPGRIP1L-A229T | het unknown | 0.056 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.101 (benign), Testable gene in GeneTests with associated GeneReview |
| 1.5 | COMT-V158M | homozygous | 0.448 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | AKAP10-I646V | homozygous | 0.452 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | AKAP10-R249H | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | PIGR-A580V | het unknown | 0.248 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1.5 | PIGR-G365S | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 1 | HRNR-Y2746H | homozygous | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S799T | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G492R | homozygous | 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-H273Q | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AGL-K385N | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R3564L | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-S1426P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SP110-M523T | het unknown | 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 | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-A206V | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-W112R | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CFH-V62I | het unknown | 0.392 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CFH-H402Y | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | C2orf71-S1225SS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | C2orf71-L792V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | MYOC-R76K | homozygous | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 1 | F5-M1764V | homozygous | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K925E | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.978 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-M413T | het unknown | 0.058 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NR_027052-R29H | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027052-T53Shift | 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-R592Q | homozygous | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-M356I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | homozygous | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MST1P9-A271Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | GLI3-R1537C | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GLI3-G1336E | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.965 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GLI3-T183A | homozygous | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ADRB2-G16R | homozygous | 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 | IL7R-I66T | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-V138I | het unknown | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-T244I | het unknown | 0.210 | Unknown protective | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CNGA1-S3F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TET2-P363L | homozygous | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.917 (probably damaging) |
| 1 | TET2-L1721W | homozygous | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TRIM64-I58T | 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 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | MBL2-N215K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | MBL2-R52C | het unknown | 0.049 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | LAMB3-A926D | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | LAMB3-N690S | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | LAMB3-V527M | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | LAMB3-N181D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.842 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | POLG-Q1236H | het unknown | 0.058 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | KRT81-R316C | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 1 | KRT81-L248R | homozygous | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT81-G52R | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.735 (possibly damaging), Testable gene in GeneTests |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TMPO-Q599E | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | STAMBPL1-E204K | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.97 (probably damaging) |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ELAC2-A541T | het unknown | 0.028 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests |
| 1 | ELAC2-S217L | het unknown | 0.273 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 1 | NPC1-I858V | het unknown | 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 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TGIF1-S18L | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | GAA-H199R | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GAA-R223H | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GAA-G576S | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GAA-V780I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SLC26A3-C307W | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.924 (probably damaging), Testable gene in GeneTests |
| 1 | SEBOX-L207S | het unknown | 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 | JUP-M697L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | JUP-R142H | homozygous | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | AP1S2-T35A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | het unknown | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | het unknown | 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 | CR622587-R101Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | NDUFA1-T30A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TTF1-G360V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | 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 | |
| 1 | PGAM4-R86H | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 1 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-I81V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-C194* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | PDHA1-K387Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | CXorf59-R424Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DGKK-L1014Shift | 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-R219K | homozygous | 0.393 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ATG9B-A790V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | FAM58A-Q15Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | PCDH11Y-V917F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | PCDH11Y-N1012K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 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 |
| 0.625 | ERCC6-Q1413R | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.625 | ERCC6-R1213G | het unknown | 0.197 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.625 | ERCC6-M1097V | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CETP-V422I | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GPR56-S281R | homozygous | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR56-Q306H | homozygous | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF778-K164T | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF778-A317V | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ZNF778-I534T | het unknown | 0.783 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF778-Q553H | het unknown | 0.781 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF778-N683D | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COL15A1-M204V | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL15A1-P705L | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CCDC55-K86T | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | BRCA1-S1634G | homozygous | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-K1183R | homozygous | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-E1038G | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-P871L | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOD2-R311W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NOD2-R703C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | PLEC-T4044M | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A3171V | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-R2969H | homozygous | 0.307 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A2138R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-A641V | homozygous | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANKRD11-P2059H | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | ANKRD11-P1638A | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.679 (possibly damaging) |
| 0.5 | ANKRD11-A971V | het unknown | 0.692 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPG7-T503A | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-V819I | het unknown | 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 | RAI1-G90A | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAI1-P165T | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), 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-D63N | homozygous | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-N413S | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
| 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-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-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 | NOL8-K165R | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | C1QBP-T130M | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | FANCA-G809D | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-G501S | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-T266A | homozygous | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | ZFYVE26-N1891S | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | CTNS-P380A | homozygous | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CD19-L174V | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | TRPM1-V1395I | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRPM1-M1T | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APH1B-F217L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
| 0.5 | LCTL-S31P | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.954 (probably damaging) |
| 0.5 | OCA2-R419Q | het unknown | 0.057 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | CYP19A1-T201M | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 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 | AVEN-E243A | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | PLA2G4E-A39Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PLA2G4E-C5R | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GANC-L11V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GANC-Q44R | het unknown | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GANC-I166V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GANC-F845S | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DUOX2-S1067L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | 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 | BBS4-I354T | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | INVS-G801E | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABAT-Q56R | homozygous | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC6-R1268Q | het unknown | 0.219 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-M848V | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-N796K | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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-P562A | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | het unknown | 0.182 | 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 | 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-A14G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SPATA7-D2N | homozygous | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | WHAMM-H736P | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | AX747031-Y95* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FANCI-A86V | homozygous | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-C742S | homozygous | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDE8A-L55V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CACNG1-G196S | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | ITGA2B-I874S | homozygous | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NAPSA-A310T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAPSA-I40T | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ETFB-P94Shift | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | homozygous | 0.434 | 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 | ZNF480-C3Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DHDH-S66N | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-A173Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DHDH-V247A | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4C-T360P | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4C-S203P | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4C-P151L | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | CEACAM20-D484Shift | homozygous | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | CEACAM20-Y470C | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CEACAM20-S369F | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CEACAM20-S355L | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CEACAM20-A41V | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | ZC3H4-P1109L | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | SIX5-V693M | homozygous | 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-L556V | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF880-V12M | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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-Y150C | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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 | AGRN-E728V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), 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 | 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 |
| 0.5 | CYP1B1-V432L | het unknown | 0.445 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_027251-H75Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ABCG8-Y54C | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-V632A | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GGH-T151I | het unknown | 0.083 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.846 (possibly damaging) |
| 0.5 | GGH-A31T | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HADHB-T2TT | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NLRP12-F402L | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests |
| 0.5 | LILRA1-V5L | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-R12G | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-S153G | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-L220P | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-K224R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LILRA1-GE261WG | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LILRA1-V387L | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | EPN1-H39Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | EPN1-G523A | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | ZNF154-R192* | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 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 | 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 | TG-S734A | homozygous | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | homozygous | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1312G | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1838N | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | TG-R1999W | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-S2132L | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-R2530Q | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | KCNQ3-E414G | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.177 (benign), 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 | KIAA1632-R1985Q | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.962 (probably damaging) |
| 0.5 | KIAA1632-A1511V | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1632-K182E | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PSCA-W118* | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | TSEN54-K347N | homozygous | 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 | TSEN54-A437V | homozygous | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPEPPS-M241T | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NPEPPS-R267C | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TBX21-H33Q | het unknown | 0.013 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.251 (possibly damaging) |
| 0.5 | SCN4A-N1376D | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | het unknown | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-T323M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CASKIN2-R835C | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SYNE2-M1969T | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | het unknown | 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 | het unknown | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-N3130S | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-N3982H | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-R4041H | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I4209T | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.03 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-N4418K | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-L1055LL | het unknown | 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 | 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 | OR7D2-M277L | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | TYK2-I684S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | TYK2-V362F | homozygous | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | RNASEH2A-L202S | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VPS13B-V2559A | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1A-E992V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CACNA1A-E917D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | ADAMTS10-T134S | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-R62Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | STXBP2-I526V | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALPK2-I2157V | het unknown | 0.832 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK2-K1730E | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ALPK2-H1174P | het unknown | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ALPK2-L1057V | het unknown | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | ALPK2-T891I | homozygous | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK2-S884L | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | ALPK2-R136S | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK2-K2T | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KISS1R-L364H | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFR2-R521C | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | NCRNA00255-P39Shift | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MLLT1-A297T | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MYH6-A1130T | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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-E289Q | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-E3411A | homozygous | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I1665T | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | het unknown | 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-A125T | het unknown | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | ADSS-K226R | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | IDI1-C13Y | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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-D882G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | 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 | 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 | TOR1AIP1-S143F | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | TOR1AIP1-M146T | homozygous | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TOR1AIP1-P276R | homozygous | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | LAMC2-T124M | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LHX4-N328S | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-N3552K | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-V2865M | het unknown | Unknown | 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 | het unknown | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PDE6C-S270T | homozygous | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | QSOX2-R524W | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 0.5 | QSOX2-K126E | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CYP2C8-K399R | het unknown | 0.087 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CYP2C8-R139K | het unknown | 0.087 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | CDH23-S494N | homozygous | 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-V1617M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | RET-G691S | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (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 | KAL1-V534I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC29A3-S158F | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-G163V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SLC29A3-V239I | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-I326V | het unknown | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ANK3-K3123R | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ANK3-Q2996H | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | USP21-G321D | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | GBA-K144R | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-R140W | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A2-Q326R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A2-T246M | het unknown | 0.025 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 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 | 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 | LRP8-R952Q | homozygous | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | LDLRAP1-S202P | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ZBTB48-S675A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.711 (possibly damaging) |
| 0.5 | MTHFR-A222V | het unknown | 0.272 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.5 | CLCNKA-R83G | het unknown | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-H357Q | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-A447T | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALPL-V522A | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PINK1-N521T | homozygous | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG6-Y131H | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), 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 | LEPR-K109R | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GSTM1-S210T | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTPN22-W620R | homozygous | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPAG17-H2160Q | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SPAG17-L2036Q | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SPAG17-P1348L | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | HTR2C-C23S | homozygous | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | BNIPL-T3A | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 0.5 | GNAT2-V124M | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-S1547P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-A1365T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL11A1-P1335L | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL23R-Q3H | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | IL23R-G149R | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | IL23R-L310P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CTH-S403I | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DPYD-R29C | het unknown | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | DBT-S242P | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F9-T194A | homozygous | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CALHM1-L86P | homozygous | 0.798 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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-G428S | homozygous | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | MMAB-M239K | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HNF1A-I27L | het unknown | 0.260 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S487N | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S574G | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GOLGA3-K1185R | homozygous | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | GOLGA3-P264L | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.063 (benign) |
| 0.5 | GOLGA3-G70E | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | SKA3-D335E | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | SETX-I2587V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-T1855A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | het unknown | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | het unknown | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-F1152C | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-A660G | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT4-G160GAGGFGAGFGTGGFG | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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-P1542S | het unknown | Unknown | 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 | 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 | COL2A1-T9S | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | REXO4-T283A | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
| 0.5 | REXO4-R141K | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BIN2-N529D | het unknown | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BIN2-A70G | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | BIN2-S48N | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SGCG-R116H | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | SGCG-N287S | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CENPJ-M21V | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PSMB11-G49S | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 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 | JPH4-A502Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | C14orf104-D768G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | C14orf104-E62D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | ADPRHL1-T163I | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | POMT1-V305I | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | B3GALTL-E370K | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-F1070S | het unknown | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-R1668H | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.762 (possibly damaging), 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 | ARL11-P131L | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.895 (probably damaging) |
| 0.5 | SUCLA2-S199T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | SLCO1B3-S112A | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | SLCO1B3-L674LEFL | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ALX4-P102S | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALX4-R35T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | OR10V1-Q123R | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR10V1-V117A | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR10V1-A67E | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | GIF-Q23R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | SLC6A5-G102S | homozygous | 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 | HPS5-G501R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HPS5-L417M | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IFITM3-H3Q | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.804 (possibly damaging) |
| 0.5 | RASSF7-P89A | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SBF2-R1179H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SBF2-E679K | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | INSC-D333N | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | MICALCL-R66Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MICALCL-V70I | homozygous | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICALCL-Y93S | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | MICALCL-A305T | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICALCL-S313G | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.923 (probably damaging) |
| 0.5 | MICALCL-D369E | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.813 (possibly damaging) |
| 0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | 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 | 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 | CACNA1C-V595I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CACNA1C-R2021Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | VWF-T1381A | homozygous | 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-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 | NPAT-N999K | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | NPAT-V575I | homozygous | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACAT1-A5P | homozygous | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests |
| 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 | IGHMBP2-L201S | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T671A | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-R694W | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL5A1-G530S | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS13-R7W | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADAMTS13-Q448E | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADAMTS13-P618A | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | ADAMTS13-A900V | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO7A-L16S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-S1666C | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | homozygous | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA7-Q1686R | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.486 (possibly damaging) |
| 0.5 | STX16-R148Q | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.622 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TNXB-G2518E | het unknown | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-T302A | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSA-T391S | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSA-W193C | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BTNL2-G454C | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | BTNL2-P393Q | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | BTNL2-M380I | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.225 (possibly damaging) |
| 0.5 | BTNL2-P379L | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | BTNL2-S360G | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BTNL2-D336N | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.583 (possibly damaging) |
| 0.5 | BTNL2-M295V | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.027 (benign) |
| 0.5 | BTNL2-D283V | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | BTNL2-R281K | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | BTNL2-A202V | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BTNL2-K196E | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BTNL2-T165I | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | EP300-I997V | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EP300-Q2223P | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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-L438V | het unknown | 0.375 | 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 | ISX-S28G | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ISX-P49S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | ISX-P57S | homozygous | 0.489 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | CEP120-R947H | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CEP120-L602V | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HSPA1L-E602K | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KCNH2-R1047L | het unknown | Complex/Other not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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-D314H | homozygous | 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 | SCN5A-H558R | het unknown | 0.246 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTR5A-P15S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DPCR1-I324T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DPCR1-P380Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DPCR1-T381Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DPCR1-G384Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DPCR1-E1295K | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTS12-T1495I | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.17 (benign) |
| 0.5 | ADAMTS12-E1422Q | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | ADAMTS12-P1414T | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | AMACR-E277K | het unknown | 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 | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-V9M | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | PPARG-P12A | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests |
| 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-Y48F | het unknown | 0.141 | 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-R64K | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A68V | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-EF73VL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-SK75RQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-G78R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-G79Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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-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-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 | homozygous | 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 | GAB4-W206C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | GAB4-G163* | homozygous | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 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 | ENPP5-R39P | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | RNF175-I322N | homozygous | 0.967 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RNF175-L307F | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | RNF175-R292C | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | RNF175-M159V | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.395 (possibly damaging) |
| 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-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-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-V910A | het unknown | Unknown | 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 | KCNQ2-N780T | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NRIP1-R448G | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | EFHC1-R182H | het unknown | 0.044 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.038 (benign), 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 | 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 | 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 | TULP1-T67R | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-P894L | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-E276K | het unknown | 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 | HLA-DQB1-V235I | homozygous | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S229N | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-R199H | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A70V | homozygous | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-Y69D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQB1-Y69D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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 | HLA-DQB1-L58Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQB1-G45A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | het unknown | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41L | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S35P | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-LL28PV | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S27T | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A23S | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-VA15AP | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-VA15AP | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D12G | homozygous | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF6-W719R | homozygous | 0.507 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 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 | COL18A1-T379M | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 0.5 | COL18A1-V394A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | TCOF1-A665P | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCOF1-V887A | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IQCF1-R143H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | IQCF1-R114Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | IQCF1-K57E | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PROP1-A142T | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCG2-Q141K | het unknown | 0.082 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.548 (possibly damaging) |
| 0.5 | GRM6-A807V | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GRM6-M712V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MLL3-N942T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) | |
| 0.5 | MLL3-I707T | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLL3-M689I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLL3-L687F | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | UGT2B15-K523T | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGT2B15-Y85D | homozygous | 0.508 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCDC158-R134Q | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | UFSP2-K103R | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 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 | TDO2-N229H | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.851 (probably damaging) |
| 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 | NR3C2-V180I | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NSD1-V614L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NSD1-S726P | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.92 (probably damaging), 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 | 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 | PITX2-A188T | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIRT5-E305G | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.861 (probably damaging) |
| 0.5 | TLR1-S602I | het unknown | 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 | TLR1-I57M | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging) |
| 0.5 | CASR-A986S | het unknown | 0.109 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALDH5A1-A237S | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | CMAH-V478A | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMAH-R310P | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMAH-N272Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CMAH-R241W | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMAH-I181T | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMAH-G131S | het unknown | 0.031 | Unknown not reviewed | 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-E93Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF204P-K6Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MRS2-P412S | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | DNAH5-S3935T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH5-Q2463R | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), 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-N402K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | AK057553-R31C | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK057553-C32Y | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK057553-G38Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AK057553-A40T | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK057553-C41S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AK057553-A46E | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EVC-Y258H | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 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 | NHLRC1-P111L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAT1-K4059N | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-T1585M | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | FAT1-R1268Q | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | CLCN2-T668S | homozygous | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DCDC2-S221G | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCDC2-P152A | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CLDN16-R55Shift | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HEATR7B2-D1529G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | HEATR7B2-L1179P | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-F890L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | HEATR7B2-V496I | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-E468V | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.025 (benign) |
| 0.5 | HEATR7B2-W191Q | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-W191Q | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GPR98-E3471K | het unknown | 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 | NPY-L7P | het unknown | 0.028 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.137 (benign) |
| 0.5 | KIAA1715-T159S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.426 (possibly damaging) |
| 0.5 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FBXL21-V172Del | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FBXL21-P208L | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBXL21-S396Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | RAMP3-W56R | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SCN7A-R1634H | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | SCN7A-M958I | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SCN7A-T41N | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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-A2872T | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-F2286L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LRP2-R131G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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-D141Y | het unknown | 0.023 | 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-S1119N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH11-N2641S | het unknown | 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 | het unknown | 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 | TTN-E32681K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I23649T | homozygous | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R9852H | homozygous | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-G9378R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S3419N | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-V3261M | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S1295L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-K1201E | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | 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 | ALS2-V368M | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PMS2-K541E | homozygous | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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-E276K | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | NEB-A6277P | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-W3348C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | homozygous | 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 | TNFAIP6-*278Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FBN2-V965I | homozygous | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RETSAT-F134Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ALMS1-R392C | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S524SP | het unknown | 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-G1414A | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I1875V | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I2070T | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S2111R | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2284P | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2826S | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-N2856S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.5 | LHCGR-N312S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ARMC10-R29W | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ACHE-H353N | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CYP3A7-R409T | homozygous | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | ABCB1-S893A | homozygous | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-N1639S | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-E612EPLSPE | het unknown | Unknown | 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 | LCT-V219I | het unknown | 0.273 | 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 | TMEM177-G29A | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.047 (benign) |
| 0.5 | TMEM177-I32V | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMEM177-D267E | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMEM177-R285* | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | MRPS9-S13L | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RGPD4-Q1169R | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | PLG-D472N | homozygous | 0.261 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AGXT-P11L | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-I340M | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AIM1-E1196A | homozygous | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | TAAR2-W168* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation |
| 0.5 | LRRFIP1-Q275R | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRRFIP1-R690T | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRRFIP1-H783D | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | LCA5-L24S | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PANK2-G126A | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM161B-V383I | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.882 (probably damaging) |
| 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 | SRA1-V110RL | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDHB16-R202Q | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | PCDHB16-T482I | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | PCDHB16-R652C | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | PCDHB16-A710V | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | JAG1-P871R | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.803 (possibly damaging), 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 | homozygous | 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 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC17A5-V296I | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.173 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | PCDHB10-D446N | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | PCDHB10-R543S | homozygous | 0.441 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB10-L660V | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PCDHB10-EA684Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MTHFD1L-R563H | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (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 | 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 | SYNE1-L8741M | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-G8323A | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | homozygous | 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-K3874T | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (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 | SPINK5-Q267R | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-A335V | het unknown | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-S368N | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-K420E | het unknown | 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 | 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 | LMBRD1-D469E | homozygous | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA4-G1117S | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA4-Y498H | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA4-A283D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA4-R154W | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ALDH8A1-P401T | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.903 (probably damaging) |
| 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 | het unknown | 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 | ESCO2-A80V | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SAG-I76V | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.436 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SAG-V403I | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SAG-V403A | het unknown | 0.130 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.375 | MYO15A-C1977R | het unknown | 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 | MYO15A-V2757M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | 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 |
| 0.375 | SIX6-L205R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | 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 |
| 0.375 | OPA1-K754E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | TPO-T116M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | TPO-A257S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | TPO-A373S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.375 | TPO-S398T | het unknown | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.375 | TPO-T725P | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | LRRC50-K393R | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | LRRC50-P502L | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | LRRC50-T544TKET | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | LRRC50-L633S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | LRRC50-L659P | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | LRRC50-S675T | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | COL6A3-T3069I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | COL6A3-A3012P | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | COL6A3-M2927T | het unknown | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | COL6A3-E1386K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | CFHR1-H157Y | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | CFHR1-L159V | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | CFHR1-E175Q | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | CFHR1-E297K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | ATXN3-G306QQR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | ATXN3-G306QQR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | ATXN3-V212M | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | 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-V94I | het unknown | 0.361 | 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 | SARDH-M648V | het unknown | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SARDH-R614H | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), 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 | 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 | TMEM151A-G412S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TMEM151A-T415* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 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 | ATP6V0A4-V2A | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ALG8-N222S | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYOT-K74Q | homozygous | 0.985 | Recessive benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYOT-R178H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | IL13-Q144R | het unknown | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EDARADD-M9I | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FGFR4-P136L | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FGFR4-G388R | het unknown | 0.241 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
| 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 | VANGL1-A116T | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | SOD2-V16A | het unknown | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMA2-R619H | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LAMA2-A2585V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NOTCH2-P210L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL6R-D358A | het unknown | 0.316 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
| 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 | BCL9-P517Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | BCL9-P671S | homozygous | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | GBP3-C491R | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GBP3-V469M | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GBP3-K451Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CLCNKB-R27L | het unknown | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-A214G | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-A287V | homozygous | 0.811 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-M562T | het unknown | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-K578E | het unknown | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CYP3A43-P340A | het unknown | 0.137 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.925 (probably damaging) |
| 0.25 | PLOD1-A99T | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLOD1-A120S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ARHGEF10L-D69N | homozygous | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.302 (possibly damaging) |
| 0.25 | ARHGEF10L-W991R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ARHGEF10L-A1227Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ABCB4-R652G | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | TXNDC3-C208R | het unknown | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | COL9A1-Q621R | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | FCGR3A-F212V | het unknown | 0.285 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | BMPR1A-P2T | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ANXA11-R230C | het unknown | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | PLCE1-R1575P | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-T1777I | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-H1927R | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | SCD-M224L | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ACADSB-R13K | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.25 | BAG3-C151R | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NRAP-R1566C | homozygous | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.853 (probably damaging) |
| 0.25 | NRAP-L1531P | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.25 | NRAP-N519I | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.974 (probably damaging) |
| 0.25 | NRAP-D484N | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.051 (benign) |
| 0.25 | NRAP-A282T | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NRAP-V208A | het unknown | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCDH15-D440A | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCDH15-S19A | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDSN-N527D | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-S453N | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CDSN-S153Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CDSN-N143S | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-M18L | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NCF2-K181R | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GPR116-I986Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GPR116-M856T | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR116-T604M | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR116-K379M | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | HMCN1-E2893G | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.25 | AGT-M268T | het unknown | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | PTF1A-S263P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | MICA-L145V | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-G198S | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-I236T | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R274Q | het unknown | 0.478 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | 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 |
| 0.25 | BBS12-D467N | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FAM55B-V103A | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
| 0.25 | DNAI2-A558T | het unknown | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMP9-Q279R | het unknown | 0.346 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMP9-R574P | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMP9-R668Q | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AXIN2-P50S | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | SLC2A10-A206T | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GDF5-S276A | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | THBD-A473V | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-R102K | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-S78T | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | SGSH-R456H | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SGSH-V361I | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.049 (benign), Testable gene in GeneTests |
| 0.25 | UNC13D-K867E | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ACOX1-I312M | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SCRIB-P1451Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SCRIB-V674E | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SCRIB-P422L | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.25 | RNF43-L418M | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 0.25 | RNF43-R343H | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | RNF43-I47V | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 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 | FAM75C1-R207H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM75C1-A278G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM75C1-E1024Q | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FAM75C1-P1069L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM75C1-Q1141* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | COL6A1-R850H | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCNT-T539I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-G704E | het unknown | 0.894 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-T879A | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | het unknown | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-R1163C | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | PCNT-I1639V | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-P2274L | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-Q2659H | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-Q2792R | homozygous | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-R3245S | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests |
| 0.25 | GUCY2D-A52S | het unknown | 0.210 | Recessive benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GUCY2D-L782H | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AIRE-S278R | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | COL1A1-T1075A | het unknown | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-A94T | het unknown | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT10-GHGG490Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | KRT10-H487Y | het unknown | 0.841 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NAT2-I114T | het unknown | 0.398 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NAT2-R197Q | het unknown | 0.282 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NAT2-R268K | het unknown | 0.581 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ATAD5-E135G | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.566 (possibly damaging) |
| 0.25 | ATAD5-N1019Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | 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 | GLI2-A1156S | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-D1306N | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MZT2A-H127R | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MZT2A-S12Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | SCN1A-A1056T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RAB3GAP1-N598S | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | GGCX-R325Q | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 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 | 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 | MCEE-A76V | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | OTOF-P1646S | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | ABCB11-V444A | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA6-A380T | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATIC-T116S | het unknown | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | CFTR-V470M | het unknown | 0.607 | 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 | LMAN1-M410L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0.25 | TNFRSF11A-H141Y | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests |
| 0.25 | TNFRSF11A-A192V | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CPS1-T344A | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASP8-K14R | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ZNF571-L573H | homozygous | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | ZNF571-Q534* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ZNF571-E252D | homozygous | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.182 (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 | PRODH2-P91R | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
| 0.25 | IL12RB1-G378R | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | IL12RB1-M365T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | NOTCH3-A2223V | het unknown | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MPDU1-A229T | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNB1-E32G | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MVK-S52N | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ACACB-G1317S | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ACACB-P1344Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ACACB-V2141I | homozygous | 0.781 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KRT1-K633R | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT1-S557G | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | AK126213-CI125Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK126213-H110Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AK126213-C108Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TLR3-L412F | het unknown | 0.213 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 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 | RPGRIP1-E1033Q | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-I2486M | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-V2214I | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-C1468Y | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-S1195P | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-R1055C | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ANK2-V2369A | het unknown | 0.143 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 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 | RP1-R872H | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-N985Y | het unknown | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.25 | RP1-A1670T | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-S1691P | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RP1-C2033Y | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 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 | 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 | APC-V1822D | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SNX19-L878R | het unknown | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-N753S | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-V361L | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | DPAGT1-I393V | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ROBO3-R416H | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | ROBO3-R1198H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | ROBO3-RS1367Del | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | WDR36-I264V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CDKN1B-V109G | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.25 | GHR-I544L | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | ADCY6-Y247Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ADCY6-P235T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ARSB-V358M | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
| 0.25 | SLCO1B1-N130D | het unknown | 0.528 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B1-V174A | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VCAN-K1516R | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | VCAN-F2301Y | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | AK298931-E88Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK298931-W38* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AK298931-T4S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | SH2B1-T484A | het unknown | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SH2B1-A663V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.25 | PALB2-Q559R | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | MST1-R653H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MST1-V575L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MST1-R434Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MST1-T294S | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.17 (benign) |
| 0.25 | ALG1-D429E | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | SUMF1-S63N | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 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 | ASAH1-V72M | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AIPL1-D90H | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.029 (benign), 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 | 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-H1300R | het unknown | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | TRIOBP-E1372D | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly 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 | MLC1-C171F | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PNPLA3-I148M | het unknown | 0.196 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | PNPLA3-K434E | het unknown | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | het unknown | 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 | 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 | CPN2-Q509R | het unknown | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CPN2-Q509R | het unknown | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SERPINA1-V237A | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLR6-S249P | het unknown | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SGPP1-I296Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SGPP1-LE194FQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MTHFD1-K134R | het unknown | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MTHFD1-R653Q | het unknown | 0.376 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | SPTBN5-N3529T | homozygous | 0.909 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPTBN5-Q2827R | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPTBN5-Q2816E | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPTBN5-R1525H | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPTBN5-Q1241Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SPTBN5-H1018Y | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPTBN5-C1000R | homozygous | 0.861 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPTBN5-D409G | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SPTBN5-H398R | homozygous | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CAPN3-A236T | het unknown | 0.245 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | DRD3-G9S | het unknown | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MCCC1-H464P | het unknown | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GATM-Q110H | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | MTRR-I49M | het unknown | 0.451 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,769,520,789 bases (96.9% of callable positions, 89.9% of total positions)
Coding region coverage: 32,005,556 bases (96.2% of all genes, 97.0% 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, chrY