Variant report for hu106D0F
- Data source: hu106D0F: var-GS000039609-ASM.tsv.bz2
- This report: evidence.pgp-hms.org/genomes?7ce29293c7a4546328060af75780b9306b236ac2
- Person ID: hu106D0F
- public profile: my.pgp-hms.org/profile/hu106D0F
- Download: source data, dbSNP and nsSNP report (110 MB)
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | LRP5-V667M | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0413646 | This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems. | 1 |
| 2 | WNT10A-F228I | Moderate | Well-established | Well-established pathogenic Unknown, Heterozygous | 0.0187907 | Causes ectodermal dysplasia in a recessive manner (malformations of teeth and nails, abnormal/loss of sweating). Although reports have high statistical significance, allele frequency for this variant is high relative to the incidence of the disease. This suggests it may be milder than other pathogenic variants and cause disease with less than 100% penetrance and/or that the disease is more common than reported. Bohring et al. report heterozygotes for pathogenic variants in this gene often have milder skin, tooth, and nail abnormalities, with males having a higher rate of tooth abnormalities. | 1 |
| 3 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
| 4 | 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 |
| 5 | rs5186 | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
| 6 | LRP5-A1330V | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.110367 | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. | 1 |
| 7 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 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 |
| 8 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 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 |
| 9 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 10 | 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 |
| 11 | 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 |
| 12 | 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 |
| 13 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
| 14 | CASP10-V410I | Low | Likely | Likely protective Dominant, Heterozygous | 0.0474066 | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). | 1 |
| 15 | 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 |
| 16 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Heterozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
| 17 | DTNBP1-P272S | Low | Uncertain | Uncertain protective Recessive, Carrier (Heterozygous) | 0.0351366 | Possibly a slight protective effect against colorectal cancer if homozygous. | 1 |
| 18 | RYR2-G1885E | Low | Likely | Likely benign Recessive, Carrier (Heterozygous) | 0.0179176 | Hypothesized to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S. However, this variant is quite common (2.4% in Europeans), as is G1886S (3.1% in Europeans), and about 1 in 700 are compound heterozygous. This is highly discordant with a disease prevalence of 1 in 2500 to 5000, and notably G1886S is reported in ClinVar as benign. We should consider the original hypothesis disproven. | 1 |
| 19 | 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 | |
| 20 | 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 |
| 21 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Homozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
| 22 | 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 |
| 23 | CASP8-M1T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0310451 | Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic. | 1 |
| 24 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 25 | TYK2-A928V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00585611 | Probably benign. | 1 |
| 26 | COL7A1-P1277L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0407139 | Polymorphism, presumed benign. | 1 |
| 27 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.270682 | This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3). | 1 |
| 28 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 29 | PHYH-P29S | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.155326 | Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis. | 1 |
| 30 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 31 | MUSK-T100M | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.023413 | Probably benign. | 1 |
| 32 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 33 | ABCC11-G180R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0976947 | This variant is associated with dry type ear wax (a benign trait) in a recessive manner. | 1 |
| 34 | 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 |
| 35 | 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 |
| 36 | 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 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32137798 / 33282720 = 96.56%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.65493646138807 | 2118 | 6138 | 955553-955711, 955717-955753, 957585-957604, 957607-957662, 957678-957712, 957754, 957762-957842, 970657-970659, 970683, 970691-970704, 976045-976052, 976069-976092, 976102-976140, 976164-976260, 976553-976597, 976610-976621, 976623-976649, 976656-976709, 976719-976746, 976865-976867, 976880-976915, 976947-976984, 977345-977351, 977494-977500, 978698-978704, 978745, 978749-978769, 978918-978946, 978965-978967, 979031, 979046-979067, 979203, 979370-979401, 979555-979588, 980565-980570, 980597-980619, 980774-980780, 981806, 981812-981817, 981835-981837, 981840-981842, 981853, 981869-981948, 981965-982005, 982023-982037, 982097, 982200-982258, 982284, 982296, 982323, 982720-982752, 983173-983181, 983186, 983195, 983250-983275, 983419-983448, 983460-983463, 983480-983483, 983537-983596, 983601-983622, 983630-983729, 984250-984256, 984258-984290, 984294-984296, 984302, 984316-984317, 984323-984324, 984335-984375, 984408-984433, 984635-984732, 984760-984804, 984946-984962, 985109-985128, 985143-985169, 985329-985331, 985340-985345, 985360-985386, 985409-985412, 985821, 986106-986136, 986176, 986189, 986193-986195, 986203-986204, 986671-986682, 986729-986734, 986737-986739, 986868-986885, 986936-986972, 987108-987114, 987119, 987124, 987142, 987170-987189, 989171-989189, 989213-989236, 990204-990205, 990222-990252, 990304-990316 |
| 2 | GABRD | 1 | 0.39367181751288 | 824 | 1359 | 1950863-1950930, 1956384-1956406, 1956411-1956412, 1956430-1956493, 1956773-1956783, 1956818-1956822, 1956838, 1956957-1957041, 1957063-1957077, 1957082-1957086, 1957108-1957177, 1959031, 1959037-1959047, 1959067-1959086, 1959606-1959607, 1959700-1959724, 1960550-1960554, 1960574-1960605, 1960615-1960640, 1960659-1960705, 1960990-1961081, 1961142-1961144, 1961171-1961192, 1961422-1961513, 1961526-1961530, 1961557-1961561, 1961585-1961587, 1961596-1961647, 1961662-1961668, 1961697-1961721 |
| 3 | PEX10 | 1 | 0.9184505606524 | 80 | 981 | 2337943-2337951, 2337954, 2337998-2337999, 2340007-2340021, 2340024, 2340200-2340203, 2343830-2343833, 2343849-2343883, 2343930-2343938 |
| 4 | NPHP4 | 1 | 0.9472085961224 | 226 | 4281 | 5950940-5950943, 5950948-5950954, 6038330-6038473, 6046221-6046280, 6046338-6046348 |
| 5 | ESPN | 1 | 0.84717348927875 | 392 | 2565 | 6485016-6485193, 6485204-6485230, 6485236-6485305, 6488382-6488401, 6488420-6488432, 6500424, 6500476, 6500751-6500758, 6500780-6500796, 6500849-6500868, 6505931-6505937, 6508922-6508928, 6508973-6508988, 6512127-6512133 |
| 6 | PLEKHG5 | 1 | 0.99811853245532 | 6 | 3189 | 6530354, 6530799, 6557380-6557383 |
| 7 | PEX14 | 1 | 0.95502645502646 | 51 | 1134 | 10689709-10689730, 10689733, 10689999-10690026 |
| 8 | TARDBP | 1 | 0.96064257028112 | 49 | 1245 | 11082339-11082362, 11082530, 11082582-11082605 |
| 9 | MASP2 | 1 | 0.9034449296458 | 199 | 2061 | 11094885-11094887, 11097750-11097763, 11097773-11097782, 11102934, 11102968-11102984, 11103035, 11103410, 11103547-11103586, 11105465-11105485, 11105495-11105518, 11105543, 11106645, 11106665, 11106670-11106673, 11106733-11106777, 11106979-11106981, 11106988, 11106991, 11107172-11107176, 11107260-11107264 |
| 10 | MTHFR | 1 | 0.99949264332826 | 1 | 1971 | 11854014 |
| 11 | PLOD1 | 1 | 0.99954212454212 | 1 | 2184 | 11994837 |
| 12 | CLCNKA | 1 | 0.93265503875969 | 139 | 2064 | 16349191-16349197, 16354391-16354397, 16356468-16356470, 16356499, 16356552, 16356956-16356961, 16356988, 16357000, 16357034-16357039, 16357041-16357044, 16357055-16357064, 16357093-16357120, 16358205-16358214, 16358279, 16358698-16358700, 16358743, 16358759-16358785, 16358938-16358946, 16358951, 16359697, 16359706, 16359710-16359712, 16360141-16360147 |
| 13 | CLCNKB | 1 | 0.97335271317829 | 55 | 2064 | 16375063-16375064, 16378220, 16378693-16378700, 16378715-16378717, 16378749-16378751, 16378782, 16378828-16378857, 16382170-16382176 |
| 14 | ATP13A2 | 1 | 0.98983911939035 | 36 | 3543 | 17313598-17313618, 17322633, 17322655-17322658, 17322881-17322882, 17338226-17338233 |
| 15 | ALDH4A1 | 1 | 0.99940898345154 | 1 | 1692 | 19215879 |
| 16 | HSPG2 | 1 | 0.9933211900425 | 88 | 13176 | 22149880-22149894, 22154411-22154412, 22154599-22154605, 22154645, 22167647-22167655, 22263657-22263710 |
| 17 | WNT4 | 1 | 0.88257575757576 | 124 | 1056 | 22456120-22456140, 22456174-22456210, 22456249, 22456255-22456258, 22469355-22469415 |
| 18 | FUCA1 | 1 | 0.98643825838687 | 19 | 1401 | 24194758-24194776 |
| 19 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 20 | KCNQ4 | 1 | 0.94492337164751 | 115 | 2088 | 41249766-41249856, 41249871-41249872, 41249887-41249888, 41249957-41249960, 41249966-41249976, 41284276, 41284279-41284280, 41284284, 41284298 |
| 21 | MMACHC | 1 | 0.98939929328622 | 9 | 849 | 45974824, 45974828-45974835 |
| 22 | PCSK9 | 1 | 0.99230399230399 | 16 | 2079 | 55505553-55505561, 55521835-55521841 |
| 23 | COL11A1 | 1 | 0.99835074216603 | 9 | 5457 | 103363732-103363734, 103380286-103380290, 103380293 |
| 24 | GSTM1 | 1 | 0.49923896499239 | 329 | 657 | 110230496-110230531, 110230792-110230794, 110230854, 110230858, 110231297, 110231301-110231302, 110231688-110231740, 110231850-110231863, 110231874-110231875, 110231885-110231947, 110232893-110232946, 110232960-110232988, 110233076-110233145 |
| 25 | NOTCH2 | 1 | 0.99892125134844 | 8 | 7416 | 120547962-120547968, 120548030 |
| 26 | HFE2 | 1 | 0.9992193598751 | 1 | 1281 | 145416828 |
| 27 | PRPF3 | 1 | 0.99561403508772 | 9 | 2052 | 150310724-150310732 |
| 28 | FLG | 1 | 0.99162973904481 | 102 | 12186 | 152278406-152278437, 152279403-152279409, 152279575-152279576, 152281317-152281356, 152282242-152282258, 152282269, 152284046, 152286000, 152286885 |
| 29 | CHRNB2 | 1 | 0.99867461895295 | 2 | 1509 | 154544361, 154544432 |
| 30 | PKLR | 1 | 0.98898550724638 | 19 | 1725 | 155269981-155269999 |
| 31 | SEMA4A | 1 | 0.99825021872266 | 4 | 2286 | 156131160-156131162, 156131167 |
| 32 | SLC19A2 | 1 | 0.99799196787149 | 3 | 1494 | 169454958-169454960 |
| 33 | F5 | 1 | 0.99430711610487 | 38 | 6675 | 169510337-169510343, 169510380, 169510475, 169510499-169510527 |
| 34 | CFHR1 | 1 | 0.99496475327291 | 5 | 993 | 196797204, 196797238, 196797244, 196797259, 196801005 |
| 35 | ADCK3 | 1 | 0.98765432098765 | 24 | 1944 | 227152796, 227152812, 227152887-227152891, 227152929, 227152935, 227153108-227153111, 227153408-227153409, 227153419-227153426, 227170733 |
| 36 | GJC2 | 1 | 0.44393939393939 | 734 | 1320 | 228345468, 228345494-228345529, 228345586-228345592, 228345640-228345691, 228345726, 228345737, 228345747-228345760, 228345763, 228345783, 228345794, 228345800-228345817, 228345821, 228345827, 228345836-228345837, 228345866-228345893, 228345947, 228345965-228345977, 228345999-228346044, 228346053-228346117, 228346140-228346175, 228346188, 228346192, 228346213-228346248, 228346290-228346505, 228346512-228346518, 228346526-228346577, 228346589-228346590, 228346593, 228346597-228346618, 228346646-228346689, 228346694-228346696, 228346757-228346779 |
| 37 | OPTN | 10 | 0.99942329873126 | 1 | 1734 | 13151250 |
| 38 | PHYH | 10 | 0.97738446411013 | 23 | 1017 | 13341979-13341987, 13341992-13341993, 13342015, 13342018-13342028 |
| 39 | PTF1A | 10 | 0.90678824721378 | 92 | 987 | 23481460-23481465, 23481636-23481681, 23481688, 23481693, 23481698, 23481737-23481742, 23481745, 23481753, 23481756-23481758, 23481766-23481767, 23481769-23481770, 23481912, 23481927-23481947 |
| 40 | MASTL | 10 | 0.99962078119075 | 1 | 2637 | 27459010 |
| 41 | RET | 10 | 0.97877428998505 | 71 | 3345 | 43572707-43572771, 43614995-43615000 |
| 42 | ERCC6 | 10 | 0.99910754127622 | 4 | 4482 | 50740823-50740826 |
| 43 | CDH23 | 10 | 0.99612171837709 | 39 | 10056 | 73442238-73442248, 73442274-73442281, 73447404-73447409, 73464878-73464887, 73468883, 73490274-73490276 |
| 44 | LDB3 | 10 | 0.99954212454212 | 1 | 2184 | 88476146 |
| 45 | GLUD1 | 10 | 0.94991055456172 | 84 | 1677 | 88836362-88836368, 88854363-88854398, 88854425-88854465 |
| 46 | HPS1 | 10 | 0.98717948717949 | 27 | 2106 | 100177361-100177387 |
| 47 | HPS6 | 10 | 0.99914089347079 | 2 | 2328 | 103825447, 103825492 |
| 48 | EMX2 | 10 | 0.99736495388669 | 2 | 759 | 119302997-119302998 |
| 49 | HTRA1 | 10 | 0.84892584892585 | 218 | 1443 | 124221169-124221173, 124221181-124221186, 124221192-124221230, 124221246-124221277, 124221300-124221309, 124221336-124221344, 124221349-124221389, 124221414-124221417, 124221428, 124221433, 124221471-124221488, 124221547-124221586, 124221611-124221622 |
| 50 | HRAS | 11 | 0.96491228070175 | 20 | 570 | 532641, 532709, 533845, 534306-534322 |
| 51 | TALDO1 | 11 | 0.99408284023669 | 6 | 1014 | 747564, 763364, 763371, 763398-763399, 763414 |
| 52 | SLC25A22 | 11 | 0.84876543209877 | 147 | 972 | 791983, 792034-792039, 792042-792044, 792192, 792197, 792317-792322, 792369, 792455-792458, 792616-792676, 792688-792693, 792705, 792870-792874, 792898-792902, 792936-792960, 794495, 794776-794791, 794806, 794872, 795004-795005 |
| 53 | PNPLA2 | 11 | 0.86006600660066 | 212 | 1515 | 819719-819721, 819733-819753, 819768-819793, 819860-819905, 822600, 823529-823548, 823580-823587, 823849, 823998-824005, 824027-824037, 824061-824062, 824117, 824120, 824370-824371, 824375, 824379, 824540-824558, 824645, 824657-824666, 824723-824751 |
| 54 | CTSD | 11 | 0.6319612590799 | 456 | 1239 | 1774736-1774764, 1774868-1774900, 1775033-1775052, 1775128-1775131, 1775224-1775246, 1775261-1775325, 1775349-1775368, 1778561-1778602, 1780244-1780282, 1780748-1780773, 1780826-1780863, 1782550-1782561, 1782650-1782672, 1782685-1782698, 1785022-1785089 |
| 55 | TNNI2 | 11 | 0.98542805100182 | 8 | 549 | 1861633-1861634, 1861758-1861760, 1861783-1861784, 1862363 |
| 56 | TNNT3 | 11 | 0.36679536679537 | 492 | 777 | 1947925-1947939, 1950352, 1951041-1951043, 1953699-1953723, 1954951-1954986, 1955020-1955067, 1955161-1955238, 1955562-1955608, 1955628, 1955640-1955675, 1955785, 1955817-1955819, 1955824-1955831, 1955840-1955885, 1956059-1956098, 1956117-1956120, 1956146-1956149, 1958193-1958233, 1959668-1959722 |
| 57 | H19 | 11 | 0.95051353874883 | 53 | 1071 | 2017819-2017832, 2018069-2018107 |
| 58 | IGF2 | 11 | 0.54008438818565 | 327 | 711 | 2154217-2154257, 2154270-2154281, 2154299-2154301, 2154321-2154406, 2154438, 2154448-2154453, 2154747-2154777, 2154799-2154825, 2154865-2154875, 2154883-2154885, 2156601, 2156664-2156700, 2156736-2156759, 2161378, 2161390, 2161394, 2161397, 2161411, 2161424-2161460, 2161485, 2161488 |
| 59 | TH | 11 | 0.52888888888889 | 742 | 1575 | 2185463-2185549, 2186482-2186501, 2186506-2186559, 2186563-2186572, 2186592-2186595, 2186907-2186918, 2186944, 2186947-2186948, 2186951-2186957, 2186970, 2186982-2186988, 2187252-2187257, 2187710-2187779, 2187863-2187892, 2187911-2187923, 2187945-2187987, 2188117-2188123, 2188140-2188165, 2188181-2188241, 2188257-2188262, 2188665-2188693, 2189101-2189141, 2189721-2189761, 2189784-2189811, 2190890, 2190906-2190907, 2190911, 2190951, 2190962-2190992, 2191021-2191028, 2191034-2191036, 2191041-2191043, 2191052, 2191071-2191101, 2191920-2191969, 2191977, 2191981, 2191986, 2191989 |
| 60 | KCNQ1 | 11 | 0.85425898572132 | 296 | 2031 | 2466329-2466399, 2466405-2466497, 2466523-2466576, 2466585, 2466589-2466645, 2466674-2466676, 2466685-2466701 |
| 61 | CDKN1C | 11 | 0.13144058885384 | 826 | 951 | 2905244, 2905247, 2905261, 2905270-2905272, 2905286-2905323, 2905332-2905359, 2905900-2906572, 2906583-2906651, 2906694-2906701, 2906709-2906712 |
| 62 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
| 63 | SMPD1 | 11 | 0.99419831223629 | 11 | 1896 | 6411931-6411941 |
| 64 | ABCC8 | 11 | 0.99894648124737 | 5 | 4746 | 17498304-17498308 |
| 65 | WT1 | 11 | 0.99356499356499 | 10 | 1554 | 32456651-32456654, 32456657, 32456857-32456861 |
| 66 | SLC35C1 | 11 | 0.99905303030303 | 1 | 1056 | 45827628 |
| 67 | PEX16 | 11 | 0.97886647454371 | 22 | 1041 | 45937373-45937375, 45939267-45939285 |
| 68 | F2 | 11 | 0.9454253611557 | 102 | 1869 | 46742365, 46742370-46742374, 46745012-46745017, 46745056, 46747488-46747505, 46747508, 46747612-46747625, 46748364-46748385, 46750343-46750376 |
| 69 | MYBPC3 | 11 | 0.99764705882353 | 9 | 3825 | 47367818-47367819, 47371598, 47372122-47372126, 47372883 |
| 70 | BSCL2 | 11 | 0.99928005759539 | 1 | 1389 | 62472946 |
| 71 | SLC22A12 | 11 | 0.98616125150421 | 23 | 1662 | 64367263-64367284, 64367343 |
| 72 | PYGM | 11 | 0.99762752075919 | 6 | 2529 | 64521090, 64521094-64521096, 64527148-64527149 |
| 73 | EFEMP2 | 11 | 0.99924924924925 | 1 | 1332 | 65638686 |
| 74 | CST6 | 11 | 0.99777777777778 | 1 | 450 | 65780415 |
| 75 | SPTBN2 | 11 | 0.99512059110553 | 35 | 7173 | 66466465-66466470, 66472625-66472627, 66475096-66475101, 66475214, 66475666-66475670, 66475708, 66483340-66483352 |
| 76 | PC | 11 | 0.99067005937235 | 33 | 3537 | 66617863, 66618286-66618290, 66618559, 66620040-66620042, 66620096-66620097, 66620120, 66633678-66633680, 66639183-66639199 |
| 77 | CABP4 | 11 | 0.94565217391304 | 45 | 828 | 67222955, 67223063-67223064, 67223068, 67223110-67223121, 67223659-67223668, 67225135-67225153 |
| 78 | AIP | 11 | 0.79053373615307 | 208 | 993 | 67256767-67256773, 67256911-67256918, 67257529-67257559, 67257567, 67257586-67257613, 67257628-67257666, 67257787-67257807, 67257832-67257843, 67257860, 67257902-67257928, 67258310, 67258346, 67258351-67258352, 67258355-67258358, 67258388-67258407, 67258460-67258464 |
| 79 | NDUFS8 | 11 | 0.99368088467615 | 4 | 633 | 67799641-67799642, 67799776, 67800444 |
| 80 | TCIRG1 | 11 | 0.96510228640193 | 87 | 2493 | 67808758-67808761, 67810120, 67810228-67810234, 67810259, 67810270-67810272, 67810284-67810311, 67811082-67811083, 67811318, 67811324, 67811352-67811353, 67811356-67811358, 67811602-67811607, 67811611-67811615, 67811744, 67815114, 67817178-67817193, 67818126-67818130 |
| 81 | LRP5 | 11 | 0.97854785478548 | 104 | 4848 | 68080183-68080273, 68216457-68216458, 68216468-68216478 |
| 82 | IGHMBP2 | 11 | 0.99966465459423 | 1 | 2982 | 68671481 |
| 83 | DHCR7 | 11 | 0.99929971988796 | 1 | 1428 | 71146691 |
| 84 | MYO7A | 11 | 0.78203971119134 | 1449 | 6648 | 76883794-76883800, 76883806-76883885, 76883919-76883921, 76885802-76885820, 76885857-76885882, 76885902-76885948, 76885960, 76886426-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890929, 76890938-76890999, 76891420-76891527, 76892426-76892491, 76892501-76892522, 76892528-76892635, 76892997-76893017, 76893028-76893060, 76893073-76893124, 76893145-76893200, 76893469-76893476, 76893482, 76893486-76893487, 76893493-76893494, 76893504-76893535, 76893546-76893558, 76893612, 76893620-76893645, 76894113-76894122, 76894124-76894133, 76894146-76894147, 76895651, 76895685-76895754, 76900454, 76900457-76900470, 76900510-76900515, 76901065-76901070, 76901099-76901101, 76901114-76901119, 76901169-76901175, 76901742-76901753, 76901780-76901786, 76901800, 76901804, 76901810-76901818, 76901844-76901846, 76903257-76903259, 76903278-76903319, 76908614-76908620, 76910763, 76910783, 76912643-76912651, 76922285-76922289, 76922313, 76922316 |
| 85 | DYNC2H1 | 11 | 0.99845500193125 | 20 | 12945 | 103043816-103043835 |
| 86 | ROBO3 | 11 | 0.99975967315549 | 1 | 4161 | 124742349 |
| 87 | CACNA2D4 | 12 | 0.99970708845929 | 1 | 3414 | 2022196 |
| 88 | CACNA1C | 12 | 0.99679926840421 | 21 | 6561 | 2794934-2794940, 2797828-2797834, 2800347-2800353 |
| 89 | VWF | 12 | 0.99549869699123 | 38 | 8442 | 6131926-6131932, 6132003-6132033 |
| 90 | SCNN1A | 12 | 0.9949702789209 | 11 | 2187 | 6458356-6458366 |
| 91 | TPI1 | 12 | 0.99466666666667 | 4 | 750 | 6976731-6976733, 6976831 |
| 92 | ATN1 | 12 | 0.99412258606213 | 21 | 3573 | 7045892-7045912 |
| 93 | ABCC9 | 12 | 0.99978494623656 | 1 | 4650 | 22025634 |
| 94 | KRAS | 12 | 0.99649122807018 | 2 | 570 | 25380253-25380254 |
| 95 | DNM1L | 12 | 0.97783808231569 | 49 | 2211 | 32866203-32866251 |
| 96 | KIF21A | 12 | 0.9997994384276 | 1 | 4986 | 39713784 |
| 97 | MLL2 | 12 | 0.97869266883351 | 354 | 16614 | 49424088-49424123, 49424165, 49425820, 49426100, 49426103, 49426222, 49426487, 49426565, 49426576-49426578, 49426581-49426583, 49426726-49426791, 49426850-49426867, 49426906-49426908, 49426915, 49427043-49427065, 49427209-49427222, 49427262-49427290, 49427316-49427323, 49427652, 49430927-49430931, 49430934-49430935, 49430946, 49430957-49430967, 49431229, 49431273-49431310, 49431515-49431546, 49431582-49431605, 49431863, 49432377, 49432498-49432503, 49432556, 49433247-49433250, 49434069-49434071, 49434074, 49435176-49435179, 49442450-49442456 |
| 98 | KRT81 | 12 | 0.96376811594203 | 55 | 1518 | 52684021-52684060, 52685176-52685190 |
| 99 | KRT86 | 12 | 0.97467488021903 | 37 | 1461 | 52695771-52695780, 52696907-52696933 |
| 100 | KRT83 | 12 | 0.9804318488529 | 29 | 1482 | 52715022-52715050 |
| 101 | KRT6B | 12 | 0.92625368731563 | 125 | 1695 | 52843632-52843637, 52844243, 52844246, 52844265, 52845397-52845438, 52845528-52845534, 52845571-52845604, 52845662-52845686, 52845797-52845804 |
| 102 | KRT6C | 12 | 0.92448377581121 | 128 | 1695 | 52865295-52865300, 52865918, 52865925, 52867024-52867030, 52867094, 52867105, 52867168-52867218, 52867230-52867263, 52867324, 52867339-52867342, 52867372-52867378, 52867413-52867419, 52867457-52867463 |
| 103 | KRT6A | 12 | 0.976401179941 | 40 | 1695 | 52884735, 52886708-52886714, 52886772-52886796, 52886908-52886914 |
| 104 | AAAS | 12 | 0.98781230956734 | 20 | 1641 | 53701397-53701416 |
| 105 | LEMD3 | 12 | 0.99488304093567 | 14 | 2736 | 65563616-65563629 |
| 106 | TRPV4 | 12 | 0.99847094801223 | 4 | 2616 | 110230597-110230600 |
| 107 | ATXN2 | 12 | 0.91248097412481 | 345 | 3942 | 112036606-112036638, 112036651, 112036683-112036769, 112036782, 112036797-112036800, 112036812, 112036815, 112036818, 112036821, 112036825-112036830, 112036901-112036908, 112036913-112036933, 112036946-112036962, 112036977, 112036987-112036989, 112037000-112037003, 112037005, 112037014-112037043, 112037057-112037098, 112037112-112037118, 112037143-112037148, 112037205-112037207, 112037210, 112037215-112037238, 112037255-112037295 |
| 108 | ACADS | 12 | 0.99596448748991 | 5 | 1239 | 121176995-121176999 |
| 109 | HNF1A | 12 | 0.98681434599156 | 25 | 1896 | 121432114-121432129, 121434199-121434200, 121434351-121434355, 121437382, 121437412 |
| 110 | HPD | 12 | 0.99238578680203 | 9 | 1182 | 122286905-122286911, 122287677-122287678 |
| 111 | PUS1 | 12 | 0.99532710280374 | 6 | 1284 | 132414269-132414272, 132425981, 132425984 |
| 112 | SACS | 13 | 0.99978165938865 | 3 | 13740 | 23913020-23913022 |
| 113 | B3GALTL | 13 | 0.99265197060788 | 11 | 1497 | 31774246-31774255, 31774258 |
| 114 | BRCA2 | 13 | 0.99795261772448 | 21 | 10257 | 32911435, 32911593-32911601, 32912473, 32912541-32912542, 32912709, 32913397-32913398, 32913837, 32921006-32921009 |
| 115 | FREM2 | 13 | 0.99947423764458 | 5 | 9510 | 39261587-39261591 |
| 116 | SUCLA2 | 13 | 0.9992816091954 | 1 | 1392 | 48571071 |
| 117 | ZIC2 | 13 | 0.94246404002502 | 92 | 1599 | 100634389-100634408, 100634412-100634414, 100634586-100634590, 100635008-100635013, 100637726-100637740, 100637747-100637758, 100637788-100637789, 100637816-100637844 |
| 118 | COL4A1 | 13 | 0.99960079840319 | 2 | 5010 | 110959296-110959297 |
| 119 | F7 | 13 | 0.47565543071161 | 700 | 1335 | 113760156-113760165, 113760171-113760214, 113765023-113765056, 113765067-113765149, 113765159-113765164, 113768203-113768218, 113768242-113768248, 113768251, 113769988-113770114, 113771113, 113771120, 113771123, 113771127, 113771149-113771154, 113771791-113771793, 113771801-113771803, 113771820, 113771825-113771829, 113771904-113771910, 113772742-113772758, 113772780, 113772784-113772786, 113772800, 113772809-113772828, 113772850-113772870, 113772887-113772921, 113772926-113772927, 113772940-113772993, 113773002-113773005, 113773026-113773049, 113773082-113773202, 113773227, 113773230, 113773272, 113773286-113773322 |
| 120 | F10 | 13 | 0.95501022494888 | 66 | 1467 | 113777197-113777229, 113803271-113803276, 113803281-113803282, 113803349-113803360, 113803607-113803610, 113803705-113803709, 113803827-113803830 |
| 121 | GRK1 | 13 | 0.98758865248227 | 21 | 1692 | 114322140-114322150, 114325949-114325958 |
| 122 | PABPN1 | 14 | 0.97937024972856 | 19 | 921 | 23790681-23790686, 23790692-23790695, 23790990-23790998 |
| 123 | MYH6 | 14 | 0.99931271477663 | 4 | 5820 | 23863303, 23863306, 23868126-23868127 |
| 124 | MYH7 | 14 | 0.99207988980716 | 46 | 5808 | 23884594-23884619, 23884882-23884893, 23887558-23887565 |
| 125 | NRL | 14 | 0.9733893557423 | 19 | 714 | 24551810-24551828 |
| 126 | TGM1 | 14 | 0.99959250203749 | 1 | 2454 | 24725206 |
| 127 | FOXG1 | 14 | 0.80816326530612 | 282 | 1470 | 29236620-29236733, 29236750-29236814, 29236818, 29236825-29236826, 29236831-29236929, 29236937 |
| 128 | NKX2-1 | 14 | 0.99585406301824 | 5 | 1206 | 36988380-36988384 |
| 129 | C14orf104 | 14 | 0.99244232299125 | 19 | 2514 | 50101453-50101471 |
| 130 | L2HGDH | 14 | 0.9992816091954 | 1 | 1392 | 50778816 |
| 131 | PYGL | 14 | 0.99528301886792 | 12 | 2544 | 51378523-51378534 |
| 132 | GCH1 | 14 | 0.94289508632138 | 43 | 753 | 55369204-55369205, 55369208, 55369233-55369271, 55369361 |
| 133 | SYNE2 | 14 | 0.99995174676703 | 1 | 20724 | 64443281 |
| 134 | ZFYVE26 | 14 | 0.9990813648294 | 7 | 7620 | 68241756-68241762 |
| 135 | ESRRB | 14 | 0.99934512115259 | 1 | 1527 | 76964698 |
| 136 | POMT2 | 14 | 0.99733688415446 | 6 | 2253 | 77786886-77786891 |
| 137 | ATXN3 | 14 | 0.97145488029466 | 31 | 1086 | 92537306, 92537331-92537360 |
| 138 | AMN | 14 | 0.10058737151248 | 1225 | 1362 | 103389026-103389028, 103389047-103389068, 103390048-103390062, 103390083-103390111, 103390123-103390156, 103394763-103394850, 103395095-103395105, 103395116, 103395126-103395312, 103395458-103395477, 103395492-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017 |
| 139 | INF2 | 14 | 0.56933333333333 | 1615 | 3750 | 105167708-105167712, 105167716, 105167721, 105167726, 105167807-105167828, 105167902-105167956, 105167988-105168012, 105169538-105169551, 105169554, 105169647-105169656, 105169680-105169684, 105169696, 105169732-105169741, 105169756, 105169760-105169769, 105170253-105170255, 105170266, 105170281-105170286, 105172395-105172405, 105172453, 105172496-105172513, 105173289-105173316, 105173654-105173696, 105173738-105173802, 105173814-105173834, 105173856-105174206, 105174226-105174339, 105174829-105174835, 105174892-105174919, 105175653, 105175957-105175973, 105176013-105176042, 105176425-105176441, 105176456, 105176490-105176508, 105176514-105176518, 105177311, 105177416-105177426, 105177431-105177443, 105177450-105177523, 105177995, 105178004, 105178012, 105178775-105178818, 105178825-105178853, 105178881-105178890, 105179194, 105179201-105179213, 105179254-105179269, 105179274-105179278, 105179313-105179329, 105179577, 105179590-105179646, 105179782-105179811, 105179820, 105179827-105179835, 105179849, 105179878-105179903, 105180540-105180558, 105180565, 105180584-105180610, 105180624, 105180638, 105180656-105180658, 105180670-105180680, 105180686-105180699, 105180706, 105180731-105180776, 105180818, 105180823, 105180852-105180882, 105180924-105180940, 105180951-105180977, 105181007-105181012, 105181017, 105181044, 105181047-105181054, 105181072-105181116, 105181122-105181163 |
| 140 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 141 | CHST14 | 15 | 0.95579133510168 | 50 | 1131 | 40763464-40763479, 40763505-40763538 |
| 142 | STRC | 15 | 0.98648648648649 | 72 | 5328 | 43896303-43896312, 43900150-43900156, 43907745-43907751, 43910437-43910443, 43910863-43910903 |
| 143 | STRC | 15 | 0.99641025641026 | 7 | 1950 | 44007207-44007213 |
| 144 | SPG11 | 15 | 0.99986361156574 | 1 | 7332 | 44912430 |
| 145 | DUOX2 | 15 | 0.998278459221 | 8 | 4647 | 45403587-45403594 |
| 146 | GATM | 15 | 0.99921383647799 | 1 | 1272 | 45670628 |
| 147 | HCN4 | 15 | 0.96179401993355 | 138 | 3612 | 73660139-73660164, 73660220-73660222, 73660225, 73660237-73660240, 73660350-73660354, 73660362-73660377, 73660401-73660439, 73660483-73660487, 73660491-73660501, 73660544-73660551, 73660592-73660611 |
| 148 | PSTPIP1 | 15 | 0.38289368505196 | 772 | 1251 | 77310491-77310500, 77310523-77310532, 77310548, 77310566-77310589, 77310808, 77310823-77310849, 77310859-77310872, 77317657-77317659, 77317841, 77317858-77317862, 77317896-77317911, 77320939-77320951, 77320967-77320970, 77320976-77320993, 77321874-77321915, 77322856-77322917, 77323521-77323595, 77324639-77324692, 77324703-77324735, 77325203-77325229, 77325248, 77325285-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 149 | RPS17 | 15 | 0.9828431372549 | 7 | 408 | 82823387-82823393 |
| 150 | RPS17 | 15 | 0.9828431372549 | 7 | 408 | 83207730-83207736 |
| 151 | POLG | 15 | 0.99758064516129 | 9 | 3720 | 89864996-89864998, 89872040, 89876813-89876814, 89876828-89876830 |
| 152 | MESP2 | 15 | 0.96817420435511 | 38 | 1194 | 90319825, 90319828-90319829, 90319841-90319846, 90319932-90319933, 90320121-90320146, 90320161 |
| 153 | BLM | 15 | 0.99929478138223 | 3 | 4254 | 91337458-91337460 |
| 154 | HBZ | 16 | 0.69230769230769 | 132 | 429 | 202969-202975, 203929-203941, 203959, 203963-203964, 203967-203973, 203978-203980, 204000, 204023-204063, 204071, 204074-204076, 204085, 204089-204091, 204271-204318, 204377 |
| 155 | GNPTG | 16 | 0.84640522875817 | 141 | 918 | 1401967-1401995, 1402003-1402014, 1402105-1402112, 1402122-1402130, 1402134-1402142, 1402147-1402148, 1402240-1402242, 1402249-1402297, 1412273-1412291, 1412298 |
| 156 | CLCN7 | 16 | 0.71298593879239 | 694 | 2418 | 1496632-1496643, 1497010, 1497024-1497030, 1497063-1497087, 1497393-1497428, 1497450-1497493, 1497533-1497569, 1497660-1497666, 1497689-1497715, 1498411-1498418, 1498426-1498454, 1498469-1498477, 1498682-1498702, 1498739-1498767, 1498967-1498975, 1498991-1499017, 1499035-1499065, 1499074-1499094, 1499277-1499307, 1499312-1499323, 1500511-1500517, 1500566-1500593, 1500601, 1500605-1500633, 1500646, 1500650-1500654, 1500660-1500667, 1501624-1501642, 1501703-1501716, 1502774-1502791, 1502821-1502846, 1502872-1502894, 1504412-1504426, 1506139-1506165, 1509180, 1524873-1524913, 1524928-1524929, 1524938, 1524971-1524975 |
| 157 | IGFALS | 16 | 0.78726708074534 | 411 | 1932 | 1840642-1840672, 1840784-1840794, 1840839-1840849, 1840936-1840947, 1840959, 1840973-1840999, 1841028, 1841031, 1841055-1841072, 1841106-1841155, 1841233, 1841286-1841304, 1841435-1841439, 1841540-1841567, 1841575-1841615, 1841751-1841800, 1841927-1841943, 1841986-1841987, 1842022-1842052, 1842074-1842093, 1842136, 1842147, 1842209, 1842211-1842215, 1842239-1842263, 1843646 |
| 158 | GFER | 16 | 0.8252427184466 | 108 | 618 | 2034236-2034246, 2034277-2034291, 2034327, 2034335-2034358, 2034376-2034382, 2034413-2034444, 2034460-2034473, 2034867-2034868, 2034872-2034873 |
| 159 | TSC2 | 16 | 0.43768436578171 | 3050 | 5424 | 2098634-2098641, 2098709, 2098719-2098742, 2103392-2103394, 2103397, 2103402, 2103404-2103405, 2103413, 2103419, 2110767-2110783, 2112534-2112563, 2112588-2112601, 2112982-2113000, 2113012-2113019, 2114290-2114296, 2114351-2114381, 2114405-2114428, 2115576-2115597, 2120488, 2120506-2120513, 2120525-2120570, 2121519-2121529, 2121538, 2121544, 2121548-2121551, 2121584-2121612, 2121785-2121796, 2121833-2121843, 2121847-2121848, 2121861-2121892, 2121902, 2121915-2121935, 2122242-2122250, 2122320, 2122326, 2122340-2122364, 2122893, 2122930-2122938, 2124201-2124203, 2124206, 2124213, 2124217, 2124234-2124236, 2124269-2124390, 2125808-2125823, 2125850-2125876, 2125893, 2126092-2126106, 2126129, 2126147-2126156, 2126492-2126507, 2126558-2126586, 2127599-2127614, 2127628-2127704, 2127720-2127726, 2129042-2129060, 2129064-2129089, 2129096-2129099, 2129112, 2129133-2129197, 2129278, 2129284, 2129288-2129300, 2129316-2129429, 2129558-2129592, 2129601-2129670, 2130177, 2130236-2130378, 2131596-2131648, 2131654-2131663, 2131666-2131698, 2131704-2131799, 2132437-2132505, 2133696-2133773, 2133784-2133817, 2134229-2134716, 2134957-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137867, 2137884-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611 |
| 160 | PKD1 | 16 | 0.0056536555142503 | 12839 | 12912 | 2139728-2140195, 2140286-2140289, 2140298-2140300, 2140309-2140403, 2140425-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141893, 2141900-2141907, 2142048-2142189, 2142484-2142593, 2142955-2143083, 2143092-2143094, 2143545-2143687, 2143699-2143733, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147731-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690 |
| 161 | ABCA3 | 16 | 0.87565982404692 | 636 | 5115 | 2326693-2326696, 2327623, 2328299-2328301, 2328318, 2328385-2328420, 2329010-2329021, 2329072, 2331141-2331172, 2331424, 2331430, 2331494, 2333200-2333202, 2333205-2333206, 2333214, 2333337, 2334325-2334341, 2334786, 2334996-2334999, 2335510, 2335527, 2335645-2335647, 2336795-2336801, 2338079-2338101, 2338237, 2338311-2338318, 2339543-2339557, 2339597, 2339601, 2342141-2342162, 2342172, 2342181, 2342202-2342229, 2345604-2345617, 2345620, 2345639-2345640, 2345650, 2345653-2345658, 2347344-2347360, 2347364-2347367, 2347405-2347443, 2347499-2347537, 2347767-2347787, 2347831-2347845, 2347848-2347869, 2348411-2348444, 2348483, 2348521-2348541, 2349404-2349412, 2349424, 2349428, 2349446-2349496, 2349503-2349509, 2350006-2350010, 2350044-2350055, 2350060-2350062, 2350093-2350108, 2354063-2354065, 2354068-2354080, 2354092, 2354107-2354112, 2354149-2354151, 2358541-2358546, 2358601-2358620, 2367688-2367690, 2367752-2367755 |
| 162 | CREBBP | 16 | 0.99945422294992 | 4 | 7329 | 3779409, 3779413-3779415 |
| 163 | GLIS2 | 16 | 0.54349206349206 | 719 | 1575 | 4382321, 4382388, 4382446-4382453, 4383472-4383474, 4384802-4384819, 4384863, 4384898-4384901, 4384935-4384978, 4385101-4385114, 4385120, 4385125-4385127, 4385134-4385180, 4385183-4385189, 4385191-4385192, 4385296-4385334, 4385361-4385394, 4386726-4386763, 4386776-4386781, 4386809-4386835, 4386849-4386931, 4386946-4386970, 4386985-4387000, 4387008, 4387045-4387074, 4387097-4387150, 4387173-4387176, 4387201-4387219, 4387288-4387326, 4387345-4387401, 4387409-4387464, 4387485-4387521 |
| 164 | ALG1 | 16 | 0.92401433691756 | 106 | 1395 | 5128856-5128873, 5130977-5130990, 5131019-5131057, 5134806-5134840 |
| 165 | ABCC6 | 16 | 0.89605496453901 | 469 | 4512 | 16255307, 16255320-16255323, 16255335-16255340, 16255353-16255355, 16256891-16256899, 16256965-16256975, 16256995-16257020, 16259480-16259482, 16259513-16259540, 16259555-16259655, 16259711-16259727, 16259755-16259759, 16259777-16259790, 16263503-16263559, 16263602-16263605, 16263623-16263628, 16263663, 16263669-16263710, 16267141-16267197, 16267205-16267206, 16269779, 16269782-16269793, 16269805-16269835, 16271338-16271339, 16271378-16271386, 16271459-16271468, 16317271-16317277 |
| 166 | OTOA | 16 | 0.99736842105263 | 9 | 3420 | 21696603-21696604, 21742176-21742182 |
| 167 | COG7 | 16 | 0.99654128837008 | 8 | 2313 | 23403744-23403751 |
| 168 | TUFM | 16 | 0.99926900584795 | 1 | 1368 | 28857569 |
| 169 | FUS | 16 | 0.99051233396584 | 15 | 1581 | 31191540-31191544, 31195675-31195676, 31195679-31195681, 31195684, 31195697, 31196439-31196441 |
| 170 | SLC5A2 | 16 | 0.99702823179792 | 6 | 2019 | 31500076, 31500085, 31500229, 31500470-31500472 |
| 171 | SALL1 | 16 | 0.99924528301887 | 3 | 3975 | 51175656-51175658 |
| 172 | SLC12A3 | 16 | 0.97672162948594 | 72 | 3093 | 56899205-56899216, 56899219-56899221, 56912985-56912986, 56913479-56913482, 56920930, 56920960-56920973, 56921837-56921842, 56921861, 56921898, 56921929-56921941, 56936292-56936304, 56938363-56938364 |
| 173 | TK2 | 16 | 0.98268398268398 | 16 | 924 | 66583936, 66583950-66583959, 66584008-66584011, 66584015 |
| 174 | HSD11B2 | 16 | 0.8743842364532 | 153 | 1218 | 67465152-67465234, 67465240-67465296, 67465306, 67465318-67465327, 67465331-67465332 |
| 175 | LCAT | 16 | 0.99622071050642 | 5 | 1323 | 67973981, 67976414, 67976985, 67976994, 67976998 |
| 176 | CDH3 | 16 | 0.99518072289157 | 12 | 2490 | 68725818-68725829 |
| 177 | COG8 | 16 | 0.97444263186514 | 47 | 1839 | 69364781-69364810, 69364843-69364844, 69373228-69373241, 69373322 |
| 178 | AARS | 16 | 0.99896800825593 | 3 | 2907 | 70295003, 70295006, 70299560 |
| 179 | GCSH | 16 | 0.96934865900383 | 16 | 522 | 81129740-81129741, 81129822-81129835 |
| 180 | GAN | 16 | 0.98885172798216 | 20 | 1794 | 81348741-81348760 |
| 181 | MLYCD | 16 | 0.95816464237517 | 62 | 1482 | 83932828-83932829, 83932891-83932896, 83932902, 83932908-83932910, 83932991-83933028, 83933101-83933102, 83933108, 83933113-83933120, 83933237 |
| 182 | FOXF1 | 16 | 0.98508771929825 | 17 | 1140 | 86544211-86544224, 86544237-86544238, 86544944 |
| 183 | FOXC2 | 16 | 0.89973439575033 | 151 | 1506 | 86601303, 86601306-86601321, 86601605, 86601608, 86601651-86601683, 86601696-86601716, 86601779-86601794, 86601881, 86602133-86602159, 86602171-86602200, 86602266-86602269 |
| 184 | JPH3 | 16 | 0.88562527814864 | 257 | 2247 | 87636888-87636893, 87678586-87678615, 87717789, 87723294-87723312, 87723342-87723345, 87723425, 87723441-87723444, 87723462-87723504, 87723521-87723522, 87723525, 87723533, 87723546-87723554, 87723573-87723603, 87723661-87723667, 87723677-87723688, 87723712-87723716, 87723764-87723770, 87723860-87723876, 87723879-87723880, 87723959-87723983, 87724019-87724020, 87724022-87724037, 87724094-87724105 |
| 185 | CYBA | 16 | 0.48809523809524 | 301 | 588 | 88709761-88709791, 88709804-88709882, 88709914-88709938, 88709963-88709979, 88712526-88712537, 88712553-88712596, 88713204, 88713209, 88713241-88713246, 88713515-88713546, 88713556-88713564, 88717378-88717421 |
| 186 | APRT | 16 | 0.64088397790055 | 195 | 543 | 88876170, 88876197-88876225, 88876478-88876479, 88876487-88876501, 88876514, 88876540-88876550, 88876848-88876849, 88876861-88876874, 88876948-88876964, 88877972-88878010, 88878056-88878060, 88878229-88878232, 88878236-88878250, 88878268-88878307 |
| 187 | GALNS | 16 | 0.82217973231358 | 279 | 1569 | 88884462-88884497, 88888997-88889003, 88889017, 88889026-88889041, 88889047, 88889063, 88889107-88889118, 88891192-88891229, 88891246-88891277, 88893151-88893190, 88902167, 88902172, 88902183, 88902609-88902610, 88904051, 88907400, 88923166-88923213, 88923235-88923247, 88923253-88923272, 88923278-88923284 |
| 188 | SPG7 | 16 | 0.99036850921273 | 23 | 2388 | 89623401, 89623469-89623490 |
| 189 | FANCA | 16 | 0.97825091575092 | 95 | 4368 | 89805045-89805064, 89805067-89805069, 89837026-89837032, 89839751-89839758, 89842162-89842171, 89882945-89882958, 89882961, 89882992-89883023 |
| 190 | TUBB3 | 16 | 0.90983000739098 | 122 | 1353 | 89989810-89989846, 89989856-89989866, 90001422-90001439, 90001569-90001579, 90001588, 90001677-90001679, 90001684, 90001690-90001702, 90001724, 90001737, 90001740, 90001744-90001745, 90001770, 90001856-90001858, 90001921, 90002174-90002189, 90002195 |
| 191 | PRPF8 | 17 | 0.99942922374429 | 4 | 7008 | 1554146-1554149 |
| 192 | CTNS | 17 | 0.91188694929343 | 106 | 1203 | 3559781-3559804, 3559822-3559826, 3559880, 3559997-3560031, 3560060-3560089, 3561308-3561316, 3563536-3563537 |
| 193 | CHRNE | 17 | 0.93252361673414 | 100 | 1482 | 4802186, 4802381, 4802573-4802575, 4802627-4802674, 4802763-4802774, 4804417-4804431, 4804462-4804481 |
| 194 | PITPNM3 | 17 | 0.97025641025641 | 87 | 2925 | 6358712, 6358727, 6358792, 6358795-6358798, 6358826-6358848, 6358947-6358952, 6374485-6374513, 6459705-6459726 |
| 195 | ACADVL | 17 | 0.99644308943089 | 7 | 1968 | 7123467, 7127975-7127980 |
| 196 | CHRNB1 | 17 | 0.99734395750332 | 4 | 1506 | 7348462-7348465 |
| 197 | GUCY2D | 17 | 0.99335748792271 | 22 | 3312 | 7906382-7906394, 7906476, 7906519, 7906605, 7906612, 7906666-7906670 |
| 198 | ALOX12B | 17 | 0.94539411206078 | 115 | 2106 | 7976235-7976236, 7976239-7976240, 7979018-7979031, 7979640-7979655, 7980047-7980049, 7980057, 7982786, 7982793-7982804, 7983123-7983152, 7984437-7984440, 7989423, 7989440-7989454, 7989461-7989473, 7990739 |
| 199 | HES7 | 17 | 0.99410029498525 | 4 | 678 | 8024899-8024902 |
| 200 | MYH2 | 17 | 0.9998283556471 | 1 | 5826 | 10426874 |
| 201 | TNFRSF13B | 17 | 0.99319727891156 | 6 | 882 | 16843778-16843783 |
| 202 | FLCN | 17 | 0.99942528735632 | 1 | 1740 | 17127431 |
| 203 | RAI1 | 17 | 0.99615451844083 | 22 | 5721 | 17697094-17697096, 17697099-17697114, 17697611-17697612, 17701542 |
| 204 | MYO15A | 17 | 0.91522703672236 | 898 | 10593 | 18022136-18022148, 18022448-18022454, 18022602-18022606, 18022670-18022682, 18022952, 18022977-18022979, 18022992, 18023282-18023286, 18023635-18023638, 18023679-18023680, 18023708-18023745, 18023783, 18023872-18023905, 18023911, 18023999-18024066, 18024076-18024118, 18024130-18024171, 18024191-18024250, 18024263-18024266, 18024271, 18024276, 18024302, 18024316-18024323, 18024349-18024379, 18024384, 18024404-18024502, 18024572-18024579, 18024604-18024649, 18024672-18024679, 18024701-18024738, 18024781-18024818, 18024852, 18024869-18024897, 18024913-18024952, 18024975-18025007, 18025065-18025086, 18025232, 18025237-18025240, 18025243, 18025332-18025337, 18025391-18025409, 18025525, 18025568-18025586, 18025650-18025665, 18025669-18025674, 18025686-18025708, 18027837-18027841, 18027844, 18045404-18045409, 18046918-18046919, 18047844, 18049353-18049354, 18061103-18061109, 18070962-18070989 |
| 205 | UNC119 | 17 | 0.93914246196404 | 44 | 723 | 26879370, 26879373, 26879405-26879443, 26879568-26879570 |
| 206 | SLC6A4 | 17 | 0.99154780771263 | 16 | 1893 | 28543182-28543189, 28543224-28543231 |
| 207 | KRT10 | 17 | 0.9994301994302 | 1 | 1755 | 38978536 |
| 208 | KRT14 | 17 | 0.87596899224806 | 176 | 1419 | 39738757-39738763, 39739487-39739515, 39739531-39739562, 39741304-39741309, 39742630, 39742832, 39742856, 39742926-39742973, 39742987-39743037 |
| 209 | KRT16 | 17 | 0.9901547116737 | 14 | 1422 | 39768490-39768496, 39768740-39768746 |
| 210 | KRT17 | 17 | 0.87682832948422 | 160 | 1299 | 39776914-39776952, 39776961-39776992, 39777845, 39777896-39777908, 39780516-39780567, 39780641-39780644, 39780690, 39780693-39780710 |
| 211 | STAT5B | 17 | 0.99915397631134 | 2 | 2364 | 40370189-40370190 |
| 212 | NAGS | 17 | 0.99626168224299 | 6 | 1605 | 42082136-42082138, 42082198, 42082256, 42083971 |
| 213 | SLC4A1 | 17 | 0.99817251461988 | 5 | 2736 | 42335134-42335138 |
| 214 | GRN | 17 | 0.99887766554433 | 2 | 1782 | 42429410, 42429413 |
| 215 | MAPT | 17 | 0.99442299442299 | 13 | 2331 | 44055754-44055757, 44061148-44061150, 44061161-44061166 |
| 216 | WNT3 | 17 | 0.99812734082397 | 2 | 1068 | 44845812, 44851091 |
| 217 | COL1A1 | 17 | 0.99226393629124 | 34 | 4395 | 48276608-48276641 |
| 218 | ACE | 17 | 0.97679163478704 | 91 | 3921 | 61554456-61554510, 61554559-61554565, 61554618, 61566147-61566152, 61574563-61574584 |
| 219 | GH1 | 17 | 0.9954128440367 | 3 | 654 | 61994777, 61995248, 61995255 |
| 220 | SCN4A | 17 | 0.9992741789149 | 4 | 5511 | 62041048-62041051 |
| 221 | USH1G | 17 | 0.96103896103896 | 54 | 1386 | 72915583, 72915588, 72915606-72915607, 72915819-72915822, 72915827, 72915855, 72916019-72916021, 72916025-72916031, 72916050, 72916058, 72916061-72916077, 72916090-72916095, 72916119-72916124, 72916198, 72916212, 72919085 |
| 222 | TSEN54 | 17 | 0.9392789373814 | 96 | 1581 | 73512648-73512656, 73512691-73512697, 73512827-73512828, 73512841-73512868, 73512882, 73512884, 73512899-73512920, 73512938-73512957, 73513134-73513137, 73518284, 73518306 |
| 223 | ITGB4 | 17 | 0.97092704333516 | 159 | 5469 | 73726457, 73726480-73726495, 73738470-73738474, 73746336-73746341, 73749862-73749881, 73750043-73750049, 73751789-73751797, 73751834, 73751879-73751900, 73751916-73751931, 73752555-73752567, 73752879-73752881, 73753078-73753080, 73753091-73753100, 73753117, 73753125-73753136, 73753178-73753188, 73753350-73753352 |
| 224 | GALK1 | 17 | 0.88464800678541 | 136 | 1179 | 73754137-73754180, 73754318-73754319, 73754324-73754340, 73754377-73754385, 73754436-73754447, 73754530-73754548, 73754583-73754607, 73754653-73754659, 73758790 |
| 225 | UNC13D | 17 | 0.86067827681027 | 456 | 3273 | 73824082-73824084, 73824154, 73825039-73825064, 73826124-73826136, 73826455-73826462, 73826519-73826521, 73826543-73826544, 73826547-73826549, 73826557-73826561, 73826659-73826664, 73826671-73826675, 73827218, 73827224-73827238, 73829047-73829050, 73830222-73830224, 73830459, 73832311-73832337, 73832420-73832441, 73832501-73832503, 73832674-73832690, 73832735-73832777, 73832981-73832987, 73835935-73835936, 73835966, 73836022-73836023, 73836099-73836111, 73838514-73838523, 73838546-73838567, 73838653-73838670, 73838679, 73838970, 73838983, 73838991-73838996, 73839000, 73839095-73839146, 73839240-73839271, 73839323-73839347, 73840306, 73840309-73840317, 73840333, 73840342-73840343, 73840370-73840407 |
| 226 | SEPT9 | 17 | 0.83702441794435 | 287 | 1761 | 75478252, 75478284-75478307, 75478352-75478400, 75483593, 75483621, 75483627-75483628, 75484895-75484922, 75484934, 75484941-75484946, 75486824-75486826, 75486830, 75488718-75488749, 75489144, 75489152, 75494605-75494740 |
| 227 | GAA | 17 | 0.94158796782092 | 167 | 2859 | 78078386-78078396, 78078565-78078587, 78078633-78078647, 78078700-78078723, 78079669, 78081361, 78081599-78081607, 78082108-78082114, 78082146-78082159, 78082162-78082164, 78082288-78082291, 78082504, 78083760-78083776, 78084585-78084595, 78086377-78086391, 78091419-78091423, 78091483, 78091493, 78091496-78091498, 78092063 |
| 228 | SGSH | 17 | 0.96156394963552 | 58 | 1509 | 78184501-78184510, 78184514, 78184637-78184641, 78186027, 78186069-78186071, 78188518, 78188528, 78188861, 78188892, 78188897-78188899, 78194047-78194061, 78194085-78194100 |
| 229 | ACTG1 | 17 | 0.93528368794326 | 73 | 1128 | 79477771, 79477953-79477966, 79477969, 79477974-79477975, 79478271, 79478351, 79478509-79478549, 79478973-79478984 |
| 230 | FSCN2 | 17 | 0.26504394861393 | 1087 | 1479 | 79495558-79495576, 79495602-79495637, 79495701-79495705, 79495730-79495814, 79495823-79495861, 79495870-79495898, 79495910-79495912, 79495934-79496019, 79496024-79496028, 79496043-79496053, 79496069-79496124, 79496137-79496185, 79496199-79496205, 79496252-79496298, 79496305-79496371, 79496378-79496383, 79502079-79502111, 79502139-79502142, 79502149-79502150, 79502153, 79502159-79502174, 79502205, 79502218-79502230, 79503172-79503212, 79503222-79503293, 79503662-79503684, 79503691-79503815, 79503901-79504106 |
| 231 | AFG3L2 | 18 | 0.9937343358396 | 15 | 2394 | 12377033-12377038, 12377042-12377043, 12377046, 12377076-12377081 |
| 232 | NPC1 | 18 | 0.99973937972374 | 1 | 3837 | 21166268 |
| 233 | LAMA3 | 18 | 0.99950009998 | 5 | 10002 | 21269656-21269659, 21269712 |
| 234 | DSC3 | 18 | 0.99962839093274 | 1 | 2691 | 28622586 |
| 235 | MYO5B | 18 | 0.99873805660718 | 7 | 5547 | 47364149-47364155 |
| 236 | CCBE1 | 18 | 0.96396396396396 | 44 | 1221 | 57134018-57134022, 57134045-57134083 |
| 237 | TNFRSF11A | 18 | 0.98217179902755 | 33 | 1851 | 59992595-59992612, 59992623-59992637 |
| 238 | CTDP1 | 18 | 0.93381843381843 | 191 | 2886 | 77439948-77440075, 77440090-77440115, 77440128, 77440131-77440133, 77440148, 77440176-77440177, 77440180, 77440197-77440219, 77440228-77440230, 77440260-77440261, 77455299 |
| 239 | ELANE | 19 | 0.28482587064677 | 575 | 804 | 852329-852380, 852876-852898, 852908-852933, 852951-853006, 853016-853032, 853262-853403, 855570-855638, 855678-855679, 855698-855702, 855709, 855713, 855729-855755, 855774, 855786-855789, 855958-856009, 856012, 856024-856034, 856037-856040, 856054-856056, 856080-856138, 856146-856164 |
| 240 | KISS1R | 19 | 0.75355054302423 | 295 | 1197 | 917563-917593, 917618-917660, 918544-918551, 918567, 918579, 918586-918594, 918618, 919496-919522, 919600, 919885-919900, 919920-919966, 920309-920344, 920347-920352, 920355-920356, 920369-920376, 920402-920431, 920587-920588, 920591-920592, 920599, 920642, 920702-920713, 920716-920721, 920745-920748 |
| 241 | STK11 | 19 | 0.642089093702 | 466 | 1302 | 1207043, 1219325-1219335, 1219338-1219340, 1219361-1219362, 1220372-1220392, 1220419-1220504, 1220584, 1220587, 1220592-1220594, 1220597-1220598, 1220629, 1220649-1220660, 1220671-1220684, 1220687-1220688, 1220691-1220695, 1220706-1220716, 1221215-1221283, 1221296-1221339, 1221979-1221984, 1221999, 1223005-1223014, 1223057, 1223073-1223096, 1223108, 1223122-1223168, 1226453-1226454, 1226476-1226484, 1226487-1226488, 1226510-1226527, 1226543, 1226592-1226646 |
| 242 | NDUFS7 | 19 | 0.91588785046729 | 54 | 642 | 1393312, 1393326, 1395422-1395453, 1395468-1395487 |
| 243 | GAMT | 19 | 0.89012345679012 | 89 | 810 | 1398718-1398743, 1398856-1398869, 1398872-1398877, 1399796, 1399806-1399809, 1399872, 1399885, 1399937, 1401415-1401449 |
| 244 | RAX2 | 19 | 0.86666666666667 | 74 | 555 | 3770676-3770699, 3770761-3770775, 3770872-3770878, 3770920-3770922, 3771536-3771542, 3771571-3771576, 3771610, 3771616, 3771731-3771740 |
| 245 | MAP2K2 | 19 | 0.88445552784705 | 139 | 1203 | 4090596-4090600, 4090634-4090640, 4090676, 4094451, 4095394-4095411, 4097290-4097293, 4099202, 4099205-4099207, 4099213, 4099222-4099223, 4099229-4099231, 4101062, 4123781-4123872 |
| 246 | NDUFA11 | 19 | 0.98356807511737 | 7 | 426 | 5903624, 5903627-5903631, 5903636 |
| 247 | INSR | 19 | 0.99060014461316 | 39 | 4149 | 7132320, 7132324, 7141705, 7152767-7152789, 7152801, 7152816-7152817, 7293869-7293873, 7293897-7293901 |
| 248 | MCOLN1 | 19 | 0.99770510613884 | 4 | 1743 | 7587638, 7587643-7587645 |
| 249 | PNPLA6 | 19 | 0.97766064257028 | 89 | 3984 | 7615260-7615266, 7615310, 7615907-7615937, 7615946, 7615948, 7615950, 7615955-7615974, 7615986, 7616277-7616302 |
| 250 | STXBP2 | 19 | 0.99887766554433 | 2 | 1782 | 7702051, 7712058 |
| 251 | ADAMTS10 | 19 | 0.9975845410628 | 8 | 3312 | 8670170-8670177 |
| 252 | TYK2 | 19 | 0.90263748597082 | 347 | 3564 | 10461510-10461517, 10463110-10463149, 10463635-10463640, 10463677, 10463707-10463720, 10463761, 10463771-10463773, 10464204-10464209, 10464215-10464250, 10464310-10464315, 10464318-10464319, 10464803, 10464866-10464867, 10464875, 10465253-10465254, 10465258, 10465270-10465285, 10468467, 10468492, 10468499, 10468679, 10468702, 10468706, 10469879-10469899, 10469914, 10469970-10469978, 10473065, 10473069, 10475345, 10475429-10475434, 10476381-10476385, 10476390, 10476397-10476398, 10476408, 10476441, 10476528-10476538, 10476552-10476554, 10476566, 10488890-10488921, 10488934-10488944, 10488958-10488963, 10488984-10489061, 10489078-10489079, 10489082 |
| 253 | DNM2 | 19 | 0.99043245311902 | 25 | 2613 | 10828938, 10897372-10897380, 10923026-10923040 |
| 254 | PRKCSH | 19 | 0.99621928166352 | 6 | 1587 | 11558341-11558346 |
| 255 | MAN2B1 | 19 | 0.99044795783926 | 29 | 3036 | 12768263-12768278, 12768283, 12768300, 12768305, 12768309-12768310, 12768891, 12775711, 12775721, 12777463-12777467 |
| 256 | CACNA1A | 19 | 0.9726100252626 | 206 | 7521 | 13318275-13318285, 13318288-13318291, 13318296-13318297, 13318332-13318369, 13318498-13318521, 13318546-13318562, 13318642-13318706, 13318710, 13409503, 13409591-13409598, 13409601-13409605, 13409896-13409897, 13616833-13616848, 13616885-13616895, 13617022 |
| 257 | NOTCH3 | 19 | 0.99239161642262 | 53 | 6966 | 15302819, 15303035-15303036, 15311622-15311651, 15311669, 15311673-15311674, 15311679-15311682, 15311689, 15311691, 15311694-15311699, 15311709-15311713 |
| 258 | JAK3 | 19 | 0.98962962962963 | 35 | 3375 | 17940917-17940921, 17940927-17940928, 17940961-17940964, 17953176-17953192, 17955159-17955165 |
| 259 | SLC5A5 | 19 | 0.98913043478261 | 21 | 1932 | 17984947-17984961, 17985320-17985325 |
| 260 | IL12RB1 | 19 | 0.96430367018602 | 71 | 1989 | 18180437-18180441, 18183059, 18186662, 18188366, 18188457, 18191774-18191775, 18191783, 18191788-18191789, 18191807, 18193039, 18194279, 18197570-18197608, 18197619-18197633 |
| 261 | COMP | 19 | 0.95602462620932 | 100 | 2274 | 18893760, 18895105-18895106, 18896532, 18896656-18896661, 18896837-18896849, 18899022, 18899026-18899046, 18899061, 18899064-18899073, 18899409-18899433, 18899438, 18899988-18899996, 18901397, 18901681-18901683, 18901717, 18901741-18901744 |
| 262 | CEBPA | 19 | 0.74187558031569 | 278 | 1077 | 33792721-33792736, 33792751-33792779, 33792805-33792811, 33792853-33792869, 33792876-33792877, 33792919-33792950, 33792965-33793032, 33793055-33793061, 33793154-33793178, 33793185-33793207, 33793227-33793259, 33793291-33793308, 33793315 |
| 263 | SCN1B | 19 | 0.96158612143742 | 31 | 807 | 35521725-35521755 |
| 264 | MAG | 19 | 0.96491228070175 | 66 | 1881 | 35790502-35790504, 35790578-35790592, 35790705-35790748, 35791093-35791094, 35791227-35791228 |
| 265 | TYROBP | 19 | 0.94395280235988 | 19 | 339 | 36398137, 36398157-36398162, 36398468-36398472, 36399076-36399082 |
| 266 | SDHAF1 | 19 | 0.99712643678161 | 1 | 348 | 36486180 |
| 267 | RYR1 | 19 | 0.99020969769134 | 148 | 15117 | 39055748, 39055772-39055823, 39055871-39055874, 39055912-39055916, 39055929-39055988, 39055994-39055996, 39055999-39056003, 39056034, 39056210, 39056213-39056216, 39056224-39056234, 39056245 |
| 268 | ACTN4 | 19 | 0.96016081871345 | 109 | 2736 | 39138501-39138503, 39138513-39138514, 39214635-39214639, 39214899-39214901, 39214975-39214979, 39215179, 39218662-39218666, 39219636-39219644, 39219710-39219730, 39219771, 39219780, 39219783-39219786, 39219919-39219925, 39219958-39219994, 39220036-39220038, 39220045, 39220049 |
| 269 | DLL3 | 19 | 0.99946149703823 | 1 | 1857 | 39993591 |
| 270 | TGFB1 | 19 | 0.9462915601023 | 63 | 1173 | 41837063-41837074, 41838161-41838166, 41854243-41854271, 41854311, 41858926-41858940 |
| 271 | ATP1A3 | 19 | 0.99537792278412 | 17 | 3678 | 42470939, 42470943-42470949, 42471000, 42471349-42471356 |
| 272 | BCAM | 19 | 0.97191308956015 | 53 | 1887 | 45312382-45312384, 45312408-45312449, 45315429-45315430, 45324070-45324075 |
| 273 | APOE | 19 | 0.9895178197065 | 10 | 954 | 45412368-45412377 |
| 274 | BLOC1S3 | 19 | 0.99343185550082 | 4 | 609 | 45683040-45683043 |
| 275 | ERCC2 | 19 | 0.99474375821288 | 12 | 2283 | 45867008, 45867100-45867103, 45867167-45867168, 45867273, 45867693-45867695, 45867698 |
| 276 | SIX5 | 19 | 0.95315315315315 | 104 | 2220 | 46268844-46268846, 46268905, 46269208-46269210, 46270145-46270158, 46271318, 46271325, 46271357, 46271566-46271587, 46271603-46271615, 46271832-46271842, 46271845, 46271947-46271948, 46272034-46272064 |
| 277 | DMPK | 19 | 0.9952380952381 | 9 | 1890 | 46281443, 46281860-46281862, 46285606-46285610 |
| 278 | FKRP | 19 | 0.86626344086022 | 199 | 1488 | 47258728-47258730, 47258786-47258793, 47258998-47259021, 47259042-47259049, 47259051-47259056, 47259144-47259150, 47259266-47259272, 47259281-47259302, 47259372-47259373, 47259382-47259390, 47259479-47259526, 47259607-47259645, 47259663-47259678 |
| 279 | DBP | 19 | 0.52556237218814 | 464 | 978 | 49134094-49134122, 49134159-49134210, 49134239-49134252, 49136864, 49136892-49136907, 49138837-49138864, 49138883-49138916, 49138933-49139142, 49139154-49139198, 49139215, 49139238-49139247, 49140191-49140192, 49140197-49140216, 49140249-49140250 |
| 280 | BCAT2 | 19 | 0.99575911789652 | 5 | 1179 | 49303491-49303495 |
| 281 | GYS1 | 19 | 0.98464317976513 | 34 | 2214 | 49494615, 49494733-49494740, 49496312-49496335, 49496359 |
| 282 | MED25 | 19 | 0.95409982174688 | 103 | 2244 | 50321599-50321601, 50321613-50321633, 50321719-50321732, 50321845-50321859, 50322501-50322505, 50333204-50333205, 50335396-50335414, 50338407, 50338415-50338421, 50338433-50338434, 50338792-50338800, 50338862, 50339039, 50340104-50340105, 50340147 |
| 283 | MYH14 | 19 | 0.99099983636066 | 55 | 6111 | 50752992-50752994, 50764742-50764746, 50764861-50764868, 50766587-50766600, 50766660, 50770248-50770251, 50770262-50770265, 50792849-50792850, 50794215-50794221, 50796832-50796838 |
| 284 | KCNC3 | 19 | 0.89401934916447 | 241 | 2274 | 50826369-50826378, 50826390, 50826456-50826464, 50831723-50831742, 50831929-50831941, 50831968, 50831976-50832003, 50832084-50832095, 50832150-50832160, 50832189-50832309, 50832325-50832339 |
| 285 | NLRP12 | 19 | 0.99874450721908 | 4 | 3186 | 54313665-54313668 |
| 286 | PRKCG | 19 | 0.99283667621777 | 15 | 2094 | 54401804-54401807, 54401852-54401855, 54409643, 54410034-54410037, 54410084-54410085 |
| 287 | PRPF31 | 19 | 0.694 | 459 | 1500 | 54621764, 54626928-54626939, 54627133, 54627139-54627146, 54627881, 54627941-54627951, 54629903-54629910, 54629953-54629992, 54631448-54631456, 54631481-54631516, 54631519-54631530, 54631545-54631546, 54631552, 54631556-54631575, 54631680-54631752, 54632432-54632468, 54632485-54632510, 54632517-54632560, 54632647-54632679, 54632708-54632745, 54634777-54634814, 54634837, 54634850-54634856 |
| 288 | NLRP7 | 19 | 0.99775208734746 | 7 | 3114 | 55451167-55451173 |
| 289 | TNNT1 | 19 | 0.93029150823828 | 55 | 789 | 55644296-55644300, 55644322, 55645291-55645295, 55652251-55652290, 55652572, 55658051-55658053 |
| 290 | TNNI3 | 19 | 0.92775041050903 | 44 | 609 | 55665508-55665512, 55667579-55667613, 55668437-55668440 |
| 291 | TPO | 2 | 0.93968593861527 | 169 | 2802 | 1481101-1481102, 1481105-1481112, 1481149-1481150, 1497651, 1520655-1520754, 1544366-1544371, 1544391-1544431, 1544462-1544470 |
| 292 | KLF11 | 2 | 0.98895386614685 | 17 | 1539 | 10183844-10183854, 10183876-10183881 |
| 293 | APOB | 2 | 0.9959100204499 | 56 | 13692 | 21266748-21266803 |
| 294 | POMC | 2 | 0.98383084577114 | 13 | 804 | 25384424-25384436 |
| 295 | OTOF | 2 | 0.62412412412412 | 2253 | 5994 | 26684782, 26686923, 26688540-26688558, 26688655, 26693461-26693477, 26693502, 26693569-26693576, 26693993, 26694001-26694018, 26695387-26695460, 26695470-26695499, 26695508-26695517, 26696010-26696018, 26696029, 26696038-26696056, 26696079-26696149, 26696274-26696292, 26696306-26696308, 26696322, 26696325-26696332, 26696338-26696393, 26696400-26696435, 26696859-26696880, 26696886-26696937, 26696959-26696978, 26697381-26697542, 26698230-26698292, 26698315-26698361, 26698782-26698817, 26698828-26698829, 26698837-26698906, 26698996-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700617, 26702132-26702252, 26702341-26702483, 26702520-26702521, 26703071-26703113, 26703134-26703179, 26703655-26703699, 26703703, 26703721-26703877, 26705274-26705279, 26705302-26705367, 26705401-26705412, 26705415-26705421, 26705430-26705435, 26706340-26706350, 26706427-26706430, 26707356-26707360, 26707447-26707493, 26712601 |
| 296 | SPAST | 2 | 0.99945975148568 | 1 | 1851 | 32289223 |
| 297 | CYP1B1 | 2 | 0.97303921568627 | 44 | 1632 | 38301937-38301942, 38301981-38301982, 38301985-38301995, 38302007, 38302190, 38302193-38302205, 38302409-38302417, 38302422 |
| 298 | ABCG8 | 2 | 0.98417408506429 | 32 | 2022 | 44099243, 44099386-44099387, 44099433-44099442, 44099445, 44101122-44101124, 44102315-44102322, 44102360-44102366 |
| 299 | EPCAM | 2 | 0.9989417989418 | 1 | 945 | 47596688 |
| 300 | MSH2 | 2 | 0.99893048128342 | 3 | 2805 | 47630446, 47630454, 47630457 |
| 301 | MSH6 | 2 | 0.98824393828068 | 48 | 4083 | 48010472-48010496, 48010537-48010541, 48010574-48010578, 48010614-48010626 |
| 302 | DYSF | 2 | 0.99858490566038 | 9 | 6360 | 71801452-71801455, 71825786-71825789, 71847698 |
| 303 | SPR | 2 | 0.97455470737913 | 20 | 786 | 73114632-73114637, 73114808, 73114811-73114821, 73114851, 73114854 |
| 304 | ALMS1 | 2 | 0.99976007677543 | 3 | 12504 | 73613032-73613034 |
| 305 | MOGS | 2 | 0.95147175815434 | 122 | 2514 | 74689008-74689010, 74689076, 74689271, 74689274, 74689993, 74690043, 74691788-74691789, 74691838-74691849, 74692125, 74692143-74692145, 74692190-74692191, 74692212, 74692249-74692314, 74692338-74692364 |
| 306 | REEP1 | 2 | 0.98349834983498 | 10 | 606 | 86564624-86564633 |
| 307 | EIF2AK3 | 2 | 0.9967173977917 | 11 | 3351 | 88926640, 88926730-88926732, 88926773, 88926776-88926781 |
| 308 | RANBP2 | 2 | 0.97074935400517 | 283 | 9675 | 109347230, 109347853-109347882, 109352023-109352055, 109357109-109357116, 109363178-109363195, 109365376-109365394, 109365432-109365458, 109368430-109368450, 109382635-109382673, 109382700-109382706, 109383051-109383090, 109383226-109383243, 109383295-109383301, 109384469, 109384523-109384529, 109384628-109384634 |
| 309 | MERTK | 2 | 0.99466666666667 | 16 | 3000 | 112656314-112656328, 112656372 |
| 310 | GLI2 | 2 | 0.99117832388154 | 42 | 4761 | 121745796, 121746085-121746089, 121746142-121746149, 121746566-121746590, 121747509, 121747667-121747668 |
| 311 | BIN1 | 2 | 0.98989898989899 | 18 | 1782 | 127815049-127815054, 127815063, 127864436-127864446 |
| 312 | PROC | 2 | 0.995670995671 | 6 | 1386 | 128180666-128180671 |
| 313 | CFC1 | 2 | 0.86607142857143 | 90 | 672 | 131279077, 131279652, 131280368-131280376, 131280379-131280387, 131280448-131280477, 131280785, 131280801-131280834, 131285307, 131285315-131285316, 131285327, 131285338 |
| 314 | LCT | 2 | 0.99982710926694 | 1 | 5784 | 136558236 |
| 315 | NEB | 2 | 0.99969960949234 | 6 | 19974 | 152432837-152432842 |
| 316 | ITGA6 | 2 | 0.99236874236874 | 25 | 3276 | 173292517-173292541 |
| 317 | TTN | 2 | 0.99999002473865 | 1 | 100248 | 179440527 |
| 318 | HSPD1 | 2 | 0.98896631823461 | 19 | 1722 | 198351835-198351853 |
| 319 | CASP8 | 2 | 0.99938157081014 | 1 | 1617 | 202122995 |
| 320 | BMPR2 | 2 | 0.99967917869747 | 1 | 3117 | 203242264 |
| 321 | NDUFS1 | 2 | 0.99771062271062 | 5 | 2184 | 206992583-206992584, 207017185-207017187 |
| 322 | DES | 2 | 0.98938428874735 | 15 | 1413 | 220283215-220283221, 220283704-220283711 |
| 323 | OBSL1 | 2 | 0.98488842031277 | 86 | 5691 | 220435665-220435693, 220435730-220435763, 220435932-220435954 |
| 324 | COL4A4 | 2 | 0.99980252764613 | 1 | 5064 | 227892725 |
| 325 | CHRND | 2 | 0.98841698841699 | 18 | 1554 | 233390928-233390931, 233390937, 233390951, 233391239-233391245, 233394653, 233396282, 233398691-233398693 |
| 326 | COL6A3 | 2 | 0.99968533668974 | 3 | 9534 | 238244864-238244866 |
| 327 | AGXT | 2 | 0.98982188295165 | 12 | 1179 | 241808283-241808287, 241808307, 241808335-241808338, 241808348, 241810770 |
| 328 | D2HGDH | 2 | 0.97254150702427 | 43 | 1566 | 242695407-242695420, 242707256-242707259, 242707308-242707332 |
| 329 | AVP | 20 | 0.94343434343434 | 28 | 495 | 3063337, 3063345-3063357, 3063632-3063644, 3063650 |
| 330 | PANK2 | 20 | 0.99591360186807 | 7 | 1713 | 3869790-3869796 |
| 331 | JAG1 | 20 | 0.99343724364233 | 24 | 3657 | 10654124-10654141, 10654163, 10654174-10654178 |
| 332 | SNTA1 | 20 | 0.94993412384717 | 76 | 1518 | 32000381-32000394, 32031164-32031170, 32031174-32031178, 32031182-32031184, 32031217-32031224, 32031352-32031388, 32031393, 32031403 |
| 333 | ADA | 20 | 0.99908424908425 | 1 | 1092 | 43255155 |
| 334 | CTSA | 20 | 0.9939879759519 | 9 | 1497 | 44520238-44520246 |
| 335 | SALL4 | 20 | 0.99873497786211 | 4 | 3162 | 50408346-50408348, 50418837 |
| 336 | GNAS | 20 | 0.9971098265896 | 9 | 3114 | 57429475, 57429602, 57429754-57429758, 57430029, 57430104 |
| 337 | COL9A3 | 20 | 0.83990267639903 | 329 | 2055 | 61448417-61448494, 61448919-61448974, 61448986, 61451294-61451297, 61451301-61451302, 61452533, 61452543-61452544, 61452550, 61452553-61452564, 61453156, 61453486-61453516, 61453979-61453981, 61456335-61456373, 61457193, 61457196-61457199, 61457204-61457206, 61457556-61457558, 61457576, 61457607, 61458145-61458151, 61458155-61458160, 61458629, 61460286-61460325, 61461012, 61461712, 61461869-61461875, 61461900-61461901, 61461904-61461923 |
| 338 | CHRNA4 | 20 | 0.44267515923567 | 1050 | 1884 | 61978090-61978115, 61978135, 61978138-61978154, 61978161, 61978196, 61981005-61981008, 61981050-61981075, 61981087-61981092, 61981096-61981136, 61981144, 61981160-61981207, 61981237-61981292, 61981302-61981482, 61981510, 61981522-61981555, 61981558, 61981564, 61981572, 61981578-61981652, 61981716-61981719, 61981745-61981771, 61981805-61981812, 61981858-61981873, 61981899-61981907, 61981927, 61981956, 61981972-61981974, 61981985-61981988, 61982002-61982017, 61982024, 61982029, 61982041-61982054, 61982085, 61982105, 61982156, 61982174-61982175, 61982188, 61982191, 61982218, 61982247-61982250, 61982290-61982315, 61982338, 61982359, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517 |
| 339 | KCNQ2 | 20 | 0.64299350897289 | 935 | 2619 | 62037997-62038021, 62038035-62038045, 62038085, 62038137, 62038163-62038167, 62038239, 62038244-62038260, 62038277, 62038319-62038320, 62038342-62038343, 62038347-62038364, 62038370, 62038376-62038378, 62038381, 62038391-62038437, 62038474-62038483, 62038497, 62038500, 62038506-62038507, 62038524-62038548, 62038553-62038554, 62038559-62038564, 62038594-62038615, 62038719-62038728, 62039800, 62039815, 62059752-62059771, 62065196-62065198, 62069983-62069994, 62070019-62070025, 62070951-62070960, 62070971-62070976, 62070985-62071061, 62073759-62073773, 62073806, 62073809-62073816, 62073878, 62076019-62076092, 62076103-62076131, 62076141-62076187, 62076591-62076617, 62076627-62076693, 62076707-62076717, 62078117, 62078120-62078122, 62078146, 62078168, 62078184-62078190, 62103521-62103574, 62103581-62103816 |
| 340 | SOX18 | 20 | 0.32987012987013 | 774 | 1155 | 62679527-62679528, 62679551-62679561, 62679575-62679576, 62679581-62679590, 62679746-62679773, 62679808-62679906, 62679920-62679921, 62679925, 62679936, 62679944-62679989, 62680018-62680078, 62680088-62680096, 62680106-62680119, 62680122-62680136, 62680144-62680151, 62680168-62680209, 62680223-62680260, 62680279, 62680290-62680315, 62680512-62680869 |
| 341 | IFNGR2 | 21 | 0.93491124260355 | 66 | 1014 | 34775850-34775915 |
| 342 | RCAN1 | 21 | 0.97760210803689 | 17 | 759 | 35987183, 35987193-35987203, 35987245-35987249 |
| 343 | CLDN14 | 21 | 0.99861111111111 | 1 | 720 | 37833307 |
| 344 | CBS | 21 | 0.9945652173913 | 9 | 1656 | 44476990, 44488644-44488651 |
| 345 | AIRE | 21 | 0.51404151404151 | 796 | 1638 | 45705890-45705906, 45705961-45706008, 45706440-45706441, 45706462, 45706469-45706470, 45706482, 45706508-45706510, 45706585-45706614, 45706893-45706932, 45706946-45706995, 45707431-45707452, 45707466-45707467, 45707472, 45708253-45708277, 45708279, 45708286-45708291, 45708318-45708333, 45709568-45709569, 45709572-45709581, 45709583, 45709606-45709651, 45709871-45709911, 45709943-45709947, 45710989-45710997, 45711000-45711034, 45711038, 45711063, 45712244-45712246, 45712252-45712260, 45712272-45712273, 45712910-45712914, 45712933, 45712945-45712987, 45712993-45713024, 45713672-45713678, 45713694-45713739, 45713742-45713745, 45713770-45713778, 45713785-45713793, 45714284-45714385, 45716266-45716328, 45717539-45717581 |
| 346 | ITGB2 | 21 | 0.98138528138528 | 43 | 2310 | 46308668-46308706, 46309953, 46320358-46320360 |
| 347 | COL18A1 | 21 | 0.68338081671415 | 1667 | 5265 | 46876285-46876286, 46876542-46876581, 46876667-46876669, 46876727, 46888573-46888577, 46896381, 46896388-46896394, 46906798-46906824, 46906842-46906896, 46907410, 46909422-46909429, 46910190-46910215, 46910242-46910251, 46910254, 46910750-46910751, 46910755, 46910763-46910770, 46910775-46910785, 46911172-46911228, 46912466-46912478, 46912603-46912627, 46913077-46913090, 46913112, 46913119-46913130, 46913415-46913454, 46913461-46913489, 46914460-46914485, 46914776-46914782, 46914790-46914829, 46915272-46915316, 46915335-46915346, 46916414-46916482, 46916964-46916985, 46916993, 46917001, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925083, 46925097-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929290-46929307, 46929340, 46929362, 46929378-46929380, 46929397, 46929400, 46929403, 46929408-46929411, 46929420-46929422, 46929449-46929507, 46929978-46929981, 46929993-46929997, 46930001, 46930004-46930009, 46930017, 46930021-46930059, 46930080-46930109, 46930115-46930150, 46930162-46930175, 46931025-46931053, 46931072-46931083, 46931086, 46931100-46931127, 46931140, 46932104, 46932123-46932165, 46932175-46932183, 46932191-46932260, 46932263, 46932266-46932268, 46932311-46932312 |
| 348 | COL6A1 | 21 | 0.68027210884354 | 987 | 3087 | 47401765-47401861, 47402548-47402608, 47402616-47402677, 47404183-47404200, 47404213-47404245, 47404269-47404318, 47404336-47404383, 47406440-47406476, 47406510-47406528, 47406545-47406586, 47406858-47406897, 47406934-47406955, 47406982-47406986, 47407069, 47407079, 47407413-47407433, 47407524-47407568, 47409030-47409051, 47409522-47409566, 47409666, 47410172-47410198, 47410292-47410306, 47410311-47410336, 47412113-47412130, 47412286-47412312, 47412719, 47414101, 47417344-47417356, 47417641, 47417655-47417656, 47417660-47417662, 47418035-47418053, 47418064-47418085, 47418815-47418826, 47418831, 47418849-47418865, 47419067-47419127, 47421168, 47421203-47421220, 47423494-47423514, 47423818-47423826, 47423902, 47423907 |
| 349 | COL6A2 | 21 | 0.67450980392157 | 996 | 3060 | 47531445-47531488, 47531924, 47531927-47531930, 47531999, 47533987, 47536684, 47536707-47536709, 47537802-47537813, 47538536-47538572, 47538981-47539018, 47539702-47539764, 47540429-47540478, 47540486-47540491, 47540984-47541017, 47541034-47541037, 47541474-47541481, 47541517, 47541521-47541522, 47542022-47542034, 47542042-47542062, 47542410, 47542810-47542831, 47544576-47544577, 47544799-47544807, 47544816-47544834, 47545189, 47545518-47545531, 47545750-47545756, 47545768, 47545780-47545788, 47545795, 47545799, 47545864, 47545867-47545920, 47545936, 47545973-47545976, 47545982-47545986, 47546014-47546040, 47546073-47546118, 47546138-47546151, 47546439-47546448, 47551868-47551895, 47551911-47551923, 47551962-47552021, 47552041-47552120, 47552124-47552126, 47552130, 47552162-47552223, 47552242-47552296, 47552319-47552353, 47552360-47552396, 47552410-47552416, 47552445-47552466 |
| 350 | COL6A2 | 21 | 0.29239766081871 | 242 | 342 | 47552183-47552223, 47552242-47552296, 47552319-47552353, 47552360-47552396, 47552410-47552416, 47552445-47552480, 47552494-47552524 |
| 351 | FTCD | 21 | 0.094710947109471 | 1472 | 1626 | 47556907-47556934, 47556953-47556981, 47557153-47557201, 47557220-47557248, 47558422-47558560, 47558794, 47558819-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570038-47570164, 47570302-47570373, 47570381-47570439, 47571472-47571507, 47571515, 47571524-47571651, 47571806-47571853, 47571866-47571894, 47572821-47572949, 47574063-47574246, 47575398, 47575404-47575412, 47575434 |
| 352 | PCNT | 21 | 0.99950054939566 | 5 | 10011 | 47831453-47831454, 47848474-47848476 |
| 353 | PRODH | 22 | 0.8840820854132 | 209 | 1803 | 18900750, 18900839, 18904403-18904419, 18905829-18905835, 18905867-18905902, 18907301, 18908899-18908927, 18909883, 18912637, 18923528-18923590, 18923599, 18923632, 18923657, 18923674-18923685, 18923695-18923704, 18923745-18923754, 18923778, 18923785-18923800 |
| 354 | GP1BB | 22 | 0.11272141706924 | 551 | 621 | 19711098-19711102, 19711377-19711386, 19711396-19711475, 19711481-19711776, 19711782-19711792, 19711798-19711924, 19711950-19711971 |
| 355 | TBX1 | 22 | 0.80645161290323 | 288 | 1488 | 19748428-19748599, 19748625, 19748636, 19748648-19748684, 19748714-19748716, 19748735-19748740, 19753440-19753463, 19753501-19753504, 19753913, 19753921-19753924, 19753941, 19753996-19753999, 19754023-19754049, 19754316-19754318 |
| 356 | SMARCB1 | 22 | 0.99481865284974 | 6 | 1158 | 24175826-24175831 |
| 357 | UPB1 | 22 | 0.99307359307359 | 8 | 1155 | 24919718-24919725 |
| 358 | CHEK2 | 22 | 0.94321408290744 | 100 | 1761 | 29083903-29083965, 29085157-29085171, 29091837-29091844, 29126455-29126468 |
| 359 | MYH9 | 22 | 0.98487166411695 | 89 | 5883 | 36688093-36688128, 36697580-36697603, 36697674-36697683, 36700044-36700048, 36712649, 36712654-36712659, 36718474-36718480 |
| 360 | TRIOBP | 22 | 0.98872921949845 | 80 | 7098 | 38119879-38119905, 38120176-38120178, 38122458, 38129413, 38129419, 38130471-38130476, 38130748, 38130916-38130944, 38131346-38131353, 38136946-38136948 |
| 361 | SOX10 | 22 | 0.99571734475375 | 6 | 1401 | 38379565-38379570 |
| 362 | PLA2G6 | 22 | 0.19018404907975 | 396 | 489 | 38508274-38508295, 38508311, 38508511-38508512, 38508515, 38508523-38508584, 38509494-38509624, 38509641-38509719, 38509730-38509739, 38509742-38509747, 38509755, 38509785-38509865 |
| 363 | PLA2G6 | 22 | 0.72366790582404 | 669 | 2421 | 38508183-38508190, 38508206-38508239, 38508264-38508295, 38508311, 38508511-38508512, 38508515, 38508523-38508584, 38509494-38509624, 38509641-38509661, 38511534-38511546, 38511552, 38511561-38511575, 38511583-38511650, 38511664-38511688, 38512082-38512096, 38512110-38512133, 38512142-38512218, 38516860-38516862, 38516881-38516908, 38519108-38519110, 38519113-38519126, 38519133-38519146, 38519153-38519160, 38519193-38519244, 38519261-38519265, 38522378-38522380, 38525485-38525493 |
| 364 | EP300 | 22 | 0.99986197377502 | 1 | 7245 | 41533770 |
| 365 | TNFRSF13C | 22 | 0.4 | 333 | 555 | 42321430-42321436, 42321476-42321503, 42322105-42322131, 42322158-42322162, 42322197-42322335, 42322642-42322652, 42322662-42322777 |
| 366 | CYB5R3 | 22 | 0.97682119205298 | 21 | 906 | 43045301-43045321 |
| 367 | ATXN10 | 22 | 0.99929971988796 | 1 | 1428 | 46067951 |
| 368 | TRMU | 22 | 0.96287519747235 | 47 | 1266 | 46731703-46731735, 46751947, 46752818-46752830 |
| 369 | ALG12 | 22 | 0.82822085889571 | 252 | 1467 | 50297626-50297627, 50297669-50297672, 50301380-50301409, 50301447-50301472, 50301504-50301511, 50301556-50301575, 50302930, 50303543, 50303650-50303677, 50303690-50303721, 50303732-50303736, 50304106-50304111, 50304147-50304149, 50304156-50304181, 50304230-50304255, 50307115-50307120, 50307291-50307295, 50307353-50307375 |
| 370 | MLC1 | 22 | 0.94885361552028 | 58 | 1134 | 50502467-50502494, 50502589-50502618 |
| 371 | SCO2 | 22 | 0.99625468164794 | 3 | 801 | 50962671-50962673 |
| 372 | TYMP | 22 | 0.74948240165631 | 363 | 1449 | 50964213-50964229, 50964244-50964246, 50964267-50964332, 50964430-50964470, 50964481-50964509, 50964512-50964515, 50964541-50964544, 50964714-50964753, 50964802-50964814, 50964876-50964896, 50965067-50965076, 50965145-50965150, 50965157-50965163, 50967752-50967766, 50967983-50968030, 50968100-50968138 |
| 373 | SHANK3 | 22 | 0.61231884057971 | 2033 | 5244 | 51113070-51113132, 51113476-51113679, 51115074-51115076, 51115092-51115096, 51115105-51115116, 51117013-51117015, 51117033-51117074, 51117080, 51117083-51117121, 51117206-51117222, 51117238-51117242, 51117250-51117348, 51117471-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133234-51133238, 51133248, 51133262-51133274, 51133299-51133334, 51133350-51133384, 51133387-51133388, 51133402-51133434, 51133464-51133466, 51133473-51133476, 51135671-51135673, 51135694-51135719, 51135951-51136143, 51137118-51137162, 51137171-51137181, 51137187, 51137194, 51137207-51137211, 51142343-51142346, 51143217-51143226, 51143238-51143247, 51143251-51143277, 51144509-51144542, 51144568-51144577, 51158612-51158622, 51158665, 51158668, 51158671, 51158727, 51158738-51158757, 51158760-51158761, 51158763-51158764, 51158784-51158807, 51158838-51158886, 51158914, 51158922-51158935, 51158942, 51158955-51158997, 51159016-51159034, 51159040, 51159067-51159071, 51159075, 51159138-51159184, 51159195-51159209, 51159233-51159267, 51159278-51159308, 51159320-51159336, 51159357, 51159374-51159375, 51159412, 51159415-51159416, 51159433-51159461, 51159658-51159665, 51159933-51159941, 51160046, 51160316-51160343, 51160371, 51160523, 51160526, 51160529-51160532, 51169172, 51169289-51169318, 51169426-51169471, 51169523-51169552, 51169563-51169578, 51169613-51169643, 51169673, 51169679, 51169682, 51169706-51169740 |
| 374 | FANCD2 | 3 | 0.98709239130435 | 57 | 4416 | 10088296-10088311, 10088340-10088346, 10088401-10088407, 10089720-10089726, 10107165-10107171, 10114941-10114947, 10132067, 10134978, 10134994, 10140459-10140461 |
| 375 | VHL | 3 | 0.97040498442368 | 19 | 642 | 10183716-10183734 |
| 376 | CRTAP | 3 | 0.99917081260365 | 1 | 1206 | 33155850 |
| 377 | SCN5A | 3 | 0.99983019188317 | 1 | 5889 | 38616804 |
| 378 | TMIE | 3 | 0.82570806100218 | 80 | 459 | 46742863, 46742913, 46742963-46742985, 46742994-46743033, 46743056-46743070 |
| 379 | TMIE | 3 | 0.85987261146497 | 66 | 471 | 46742978-46742985, 46742994-46743033, 46743056-46743070, 46751074-46751076 |
| 380 | TREX1 | 3 | 0.9963963963964 | 4 | 1110 | 48508879, 48508882-48508884 |
| 381 | COL7A1 | 3 | 0.98720996038483 | 113 | 8835 | 48607073, 48612796, 48613059, 48614122-48614127, 48614140, 48614351-48614352, 48617085-48617088, 48617092, 48617097, 48618027, 48619365, 48620064, 48620078-48620086, 48623017-48623021, 48623595-48623597, 48623602, 48623608, 48624452, 48624468, 48624689, 48625226-48625251, 48625263-48625269, 48626111-48626120, 48626365-48626384, 48626843, 48627151, 48627703-48627707 |
| 382 | SLC25A20 | 3 | 0.99889624724062 | 1 | 906 | 48936171 |
| 383 | LAMB2 | 3 | 0.99499722067815 | 27 | 5397 | 49162877-49162903 |
| 384 | AMT | 3 | 0.99752475247525 | 3 | 1212 | 49459682, 49459692, 49459868 |
| 385 | GNAT1 | 3 | 0.99145299145299 | 9 | 1053 | 50231084, 50231611, 50231624-50231626, 50231638-50231641 |
| 386 | HYAL1 | 3 | 0.97935779816514 | 27 | 1308 | 50337991-50337993, 50338041-50338043, 50338070-50338073, 50338223, 50338504-50338508, 50339609-50339619 |
| 387 | TNNC1 | 3 | 0.95267489711934 | 23 | 486 | 52485429-52485447, 52485764, 52485824, 52488008-52488009 |
| 388 | TKT | 3 | 0.96848290598291 | 59 | 1872 | 53262149-53262156, 53264587-53264601, 53289852-53289887 |
| 389 | FLNB | 3 | 0.99257267255731 | 58 | 7809 | 57994376-57994378, 57994390-57994393, 57994421-57994464, 57994558-57994564 |
| 390 | ATXN7 | 3 | 0.9584214235377 | 118 | 2838 | 63898361-63898363, 63898379-63898387, 63898430-63898501, 63898513-63898546 |
| 391 | ROBO2 | 3 | 0.9997582789461 | 1 | 4137 | 77600028 |
| 392 | ARL13B | 3 | 0.996114996115 | 5 | 1287 | 93762080-93762084 |
| 393 | FOXL2 | 3 | 0.92926613616269 | 80 | 1131 | 138664748, 138664797-138664815, 138664849, 138664857-138664896, 138665037, 138665044-138665060, 138665085 |
| 394 | GHSR | 3 | 0.9936421435059 | 7 | 1101 | 172166099-172166105 |
| 395 | ALG3 | 3 | 0.95671981776765 | 57 | 1317 | 183961390, 183966605-183966648, 183966673-183966677, 183966697, 183966704, 183966707-183966711 |
| 396 | CLCN2 | 3 | 0.9944382647386 | 15 | 2697 | 184070867-184070870, 184071189-184071198, 184072074 |
| 397 | CPN2 | 3 | 0.98717948717949 | 21 | 1638 | 194061919-194061926, 194061937-194061938, 194061945-194061953, 194061956, 194062324 |
| 398 | PDE6B | 4 | 0.97933723196881 | 53 | 2565 | 619523-619525, 619600, 647641-647645, 647681, 647749-647764, 647937, 648661, 649756-649758, 650062-650067, 651240-651254, 652790 |
| 399 | IDUA | 4 | 0.29102956167176 | 1391 | 1962 | 980873-981020, 981597-981607, 981614-981688, 981699, 981710, 994400, 994404, 994421-994435, 994450-994451, 994466-994485, 994707-994741, 995264-995303, 995342, 995467-995487, 995497-995524, 995531-995578, 995584-995618, 995641-995659, 995770-995798, 995804-995844, 995861-995949, 996057-996070, 996087, 996154-996273, 996520-996732, 996824-996945, 997133-997164, 997169-997180, 997187-997258, 997337-997413, 997801, 997811-997824, 997831, 997859-997860, 997899-997900, 998048-998086, 998165, 998168-998174 |
| 400 | FGFR3 | 4 | 0.88833951380305 | 271 | 2427 | 1795662-1795708, 1795731, 1795741-1795742, 1800991-1801039, 1801072-1801083, 1801139, 1801146-1801148, 1801174, 1801187-1801207, 1801211, 1803094-1803095, 1803101-1803103, 1803112-1803116, 1803121, 1803128, 1803255-1803258, 1803261-1803263, 1803348, 1803351-1803368, 1803371, 1803437-1803443, 1803579-1803593, 1803685-1803687, 1803692, 1803695-1803697, 1803702, 1806651, 1806655-1806666, 1806682-1806683, 1806690-1806695, 1807195-1807202, 1807389-1807391, 1807498-1807515, 1807994-1808000, 1808578-1808584 |
| 401 | SH3BP2 | 4 | 0.97145934302639 | 53 | 1857 | 2819960-2819968, 2819978, 2820052-2820067, 2820071, 2820089-2820090, 2820094-2820117 |
| 402 | HTT | 4 | 0.9876975289002 | 116 | 9429 | 3076617-3076693, 3076699, 3076705, 3076723-3076738, 3076748-3076749, 3076753-3076754, 3076757-3076759, 3076765-3076770, 3076774, 3241590-3241596 |
| 403 | DOK7 | 4 | 0.71155115511551 | 437 | 1515 | 3465130-3465156, 3465233-3465256, 3475145, 3475230-3475231, 3478221-3478228, 3494534-3494551, 3494563-3494610, 3494616, 3494620-3494622, 3494627, 3494636-3494656, 3494678, 3494690-3494696, 3494706-3494759, 3494782-3494817, 3494834-3494856, 3494890, 3494900, 3494915-3494925, 3494960-3495029, 3495040-3495052, 3495057-3495113, 3495122-3495129, 3495223 |
| 404 | DOK7 | 4 | 0.43824027072758 | 332 | 591 | 3494534-3494551, 3494563-3494610, 3494616, 3494620-3494622, 3494627, 3494636-3494656, 3494678, 3494690-3494696, 3494706-3494759, 3494782-3494817, 3494834-3494856, 3494890, 3494900, 3494915-3494925, 3494960-3495029, 3495040-3495052, 3495057-3495079 |
| 405 | EVC | 4 | 0.99932863376972 | 2 | 2979 | 5800407, 5800422 |
| 406 | PKD2 | 4 | 0.99174406604747 | 24 | 2907 | 88928937-88928956, 88928963-88928965, 88928985 |
| 407 | CISD2 | 4 | 0.88235294117647 | 48 | 408 | 103808512-103808540, 103808569-103808587 |
| 408 | CFI | 4 | 0.99942922374429 | 1 | 1752 | 110673625 |
| 409 | ANK2 | 4 | 0.9996631295267 | 4 | 11874 | 114158307-114158310 |
| 410 | MFSD8 | 4 | 0.99871547848426 | 2 | 1557 | 128859962-128859963 |
| 411 | CTSO | 4 | 0.98136645962733 | 18 | 966 | 156863564-156863565, 156874959-156874974 |
| 412 | GK | 4 | 0.99939831528279 | 1 | 1662 | 166199345 |
| 413 | SLC25A4 | 4 | 0.9933110367893 | 6 | 897 | 186064624-186064629 |
| 414 | SDHA | 5 | 0.96340852130326 | 73 | 1995 | 218494-218533, 223682-223683, 251538-251568 |
| 415 | SLC6A19 | 5 | 0.66141732283465 | 645 | 1905 | 1201766-1201967, 1208861-1208903, 1208933-1208944, 1208972-1209001, 1210559-1210574, 1210628-1210642, 1210659-1210681, 1212481-1212506, 1212528-1212543, 1212552, 1212566-1212571, 1213578-1213666, 1213677, 1214073-1214087, 1214093-1214127, 1214153, 1216729, 1216775, 1216797-1216800, 1216929, 1216952, 1216986, 1217021-1217023, 1217049, 1217058, 1219018-1219058, 1219079, 1219111, 1219221-1219222, 1219620-1219621, 1219641-1219648, 1219670, 1219675-1219685, 1219743-1219745, 1221322-1221351 |
| 416 | TERT | 5 | 0.44748455428067 | 1878 | 3399 | 1253925, 1254516, 1254530-1254534, 1254558-1254606, 1255501, 1258722-1258762, 1264519-1264525, 1264617, 1264638, 1264683, 1266579-1266629, 1268635-1268744, 1271243-1271319, 1272300-1272395, 1278761-1278769, 1278790-1278830, 1278838-1278859, 1278888-1278911, 1279406-1279419, 1279442-1279499, 1279505-1279584, 1280290-1280306, 1280317-1280400, 1280423, 1280431, 1280445-1280453, 1282545-1282557, 1282629-1282635, 1282660-1282665, 1282668, 1282679-1282681, 1282688, 1282715-1282723, 1293451-1293475, 1293573-1293577, 1293589-1293717, 1293763-1293809, 1293822, 1293836-1293841, 1293906-1293975, 1293977-1293980, 1293992-1294064, 1294075-1294078, 1294084-1294091, 1294129-1294156, 1294222, 1294225-1294288, 1294296-1294302, 1294309-1294312, 1294315-1294347, 1294358-1294420, 1294472-1294478, 1294517-1294522, 1294531-1294619, 1294639-1294781, 1294886-1295104 |
| 417 | SLC6A3 | 5 | 0.98658078368223 | 25 | 1863 | 1409201, 1422049-1422055, 1422084-1422100 |
| 418 | SDHA | 5 | 0.92354740061162 | 25 | 327 | 1593326, 1594527-1594550 |
| 419 | FAM134B | 5 | 0.99799196787149 | 3 | 1494 | 16616819, 16616904-16616905 |
| 420 | NIPBL | 5 | 0.99964349376114 | 3 | 8415 | 37048755-37048757 |
| 421 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 69362949 |
| 422 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 70238373 |
| 423 | HEXB | 5 | 0.99940155595452 | 1 | 1671 | 73981141 |
| 424 | LMNB1 | 5 | 0.98580352072686 | 25 | 1761 | 126113280, 126113443, 126113446, 126113462, 126113472-126113473, 126113476-126113493, 126113512 |
| 425 | FBN2 | 5 | 0.99828355647099 | 15 | 8739 | 127873055-127873056, 127873066, 127873072, 127873284-127873291, 127873294-127873296 |
| 426 | SIL1 | 5 | 0.98484848484848 | 21 | 1386 | 138282912-138282928, 138283069, 138283079, 138287505-138287506 |
| 427 | TCOF1 | 5 | 0.97704315886134 | 100 | 4356 | 149748376, 149748390-149748392, 149754706-149754711, 149754715-149754720, 149755772, 149758900-149758911, 149758927-149758929, 149758947, 149759286, 149767594, 149767599-149767605, 149769515-149769532, 149771695-149771717, 149773098-149773112, 149776168, 149776171 |
| 428 | MSX2 | 5 | 0.99875621890547 | 1 | 804 | 174151878 |
| 429 | F12 | 5 | 0.98797250859107 | 7 | 582 | 176829422, 176830310-176830315 |
| 430 | F12 | 5 | 0.98863636363636 | 21 | 1848 | 176829422, 176830310-176830315, 176830503-176830507, 176830534, 176831046, 176832327-176832333 |
| 431 | SQSTM1 | 5 | 0.94028722600151 | 79 | 1323 | 179247998-179248028, 179248040-179248087 |
| 432 | FLT4 | 5 | 0.34286412512219 | 2689 | 4092 | 180043367-180043372, 180043447-180043456, 180043479-180043486, 180043961-180043979, 180045770-180045829, 180045850-180045920, 180046021-180046072, 180046079-180046109, 180046253-180046366, 180046667-180046730, 180046741-180046763, 180047176-180047178, 180047187-180047308, 180047609-180047703, 180047714-180047715, 180047876-180048007, 180048116-180048167, 180048202-180048252, 180048542-180048582, 180048592-180048649, 180048695-180048746, 180048781-180048798, 180048824-180048865, 180048888-180048904, 180049731-180049792, 180049805-180049811, 180049828-180049839, 180050935-180050979, 180051002-180051061, 180052869-180053031, 180053111-180053158, 180053164-180053265, 180055882-180055999, 180056259-180056269, 180056276-180056427, 180056696-180056766, 180056772-180056835, 180056943-180057105, 180057225-180057332, 180057555-180057799, 180058682-180058729, 180058743-180058778, 180076515-180076545 |
| 433 | FOXC1 | 6 | 0.80625752105897 | 322 | 1662 | 1610702-1610730, 1610743-1610807, 1610815-1610841, 1610865, 1610868-1610870, 1611184-1611186, 1611199-1611201, 1611276, 1611291-1611316, 1611415-1611434, 1611463-1611465, 1611468-1611482, 1611556, 1611562-1611591, 1611640-1611669, 1611687, 1611691-1611711, 1611802-1611811, 1611828, 1611921-1611941, 1612018-1612020, 1612045, 1612142-1612144, 1612214-1612217 |
| 434 | TUBB2B | 6 | 0.96038863976084 | 53 | 1338 | 3225230-3225259, 3225436-3225456, 3225714, 3227724 |
| 435 | ATXN1 | 6 | 0.98570261437909 | 35 | 2448 | 16327851-16327856, 16327865-16327868, 16327886-16327903, 16327916-16327918, 16327921-16327924 |
| 436 | ALDH5A1 | 6 | 0.99696417729205 | 5 | 1647 | 24495347-24495349, 24495401-24495402 |
| 437 | HLA-H | 6 | 0.55333333333333 | 335 | 750 | 29855764-29855767, 29855789-29855842, 29855849-29855850, 29855856-29855858, 29855862-29855875, 29855884-29855885, 29855891, 29855901, 29855907-29855908, 29855926-29855963, 29855978, 29855996-29856001, 29856251-29856290, 29856304-29856323, 29856347, 29856353, 29856368, 29856389, 29856402, 29856417-29856442, 29856455-29856497, 29856528-29856562, 29856583-29856614, 29856643, 29856679, 29856686, 29856693, 29856711, 29856722 |
| 438 | TNXB | 6 | 0.97822706065319 | 42 | 1929 | 31976916, 31976926, 31977377-31977395, 31979403-31979423 |
| 439 | CYP21A2 | 6 | 0.94354838709677 | 84 | 1488 | 32006209-32006210, 32006218, 32006371-32006390, 32007579, 32007584, 32007587, 32007593, 32007790, 32008195-32008201, 32008309-32008315, 32008866-32008907 |
| 440 | TNXB | 6 | 0.99465786786079 | 68 | 12729 | 32009648-32009664, 32010112-32010130, 32010262, 32010286, 32012257-32012277, 32013034-32013040, 32025863-32025864 |
| 441 | HLA-DQA1 | 6 | 0.96875 | 24 | 768 | 32609855, 32609873-32609874, 32610387-32610406, 32610487 |
| 442 | HLA-DQB1 | 6 | 0.86005089058524 | 110 | 786 | 32629124-32629173, 32629224-32629234, 32632685-32632730, 32632744, 32632770, 32632777 |
| 443 | SYNGAP1 | 6 | 0.98338293650794 | 67 | 4032 | 33388042-33388108 |
| 444 | FANCE | 6 | 0.98758535071384 | 20 | 1611 | 35420390, 35420408-35420420, 35420432-35420435, 35423903, 35425353 |
| 445 | TULP1 | 6 | 0.96562308164518 | 56 | 1629 | 35479973-35480028 |
| 446 | MOCS1 | 6 | 0.79120879120879 | 399 | 1911 | 39893422-39893512, 39893532-39893589, 39895068-39895317 |
| 447 | RSPH9 | 6 | 0.9410348977136 | 49 | 831 | 43612849-43612897 |
| 448 | RUNX2 | 6 | 0.92911877394636 | 111 | 1566 | 45390427-45390469, 45390475-45390535, 45390546-45390552 |
| 449 | MUT | 6 | 0.99689303151354 | 7 | 2253 | 49409573-49409579 |
| 450 | PKHD1 | 6 | 0.99574642126789 | 52 | 12225 | 51929759-51929767, 51929772-51929776, 51929795-51929832 |
| 451 | OSTM1 | 6 | 0.9910447761194 | 9 | 1005 | 108395711-108395713, 108395746-108395751 |
| 452 | FIG4 | 6 | 0.99816446402349 | 5 | 2724 | 110146433-110146437 |
| 453 | GJA1 | 6 | 0.99390774586597 | 7 | 1149 | 121768922-121768928 |
| 454 | ENPP1 | 6 | 0.99352051835853 | 18 | 2778 | 132129195-132129197, 132129288-132129292, 132129296-132129297, 132129300, 132129305, 132129336-132129340, 132129347 |
| 455 | SYNE1 | 6 | 0.9998484504054 | 4 | 26394 | 152671332-152671335 |
| 456 | TBP | 6 | 0.97941176470588 | 21 | 1020 | 170871014-170871019, 170871022-170871027, 170871037, 170871043, 170871046, 170871067, 170871070, 170871073, 170871076, 170871095, 170871100 |
| 457 | LFNG | 7 | 0.51578947368421 | 552 | 1140 | 2559496-2559919, 2564329-2564338, 2564351, 2564876-2564889, 2564940, 2565109-2565130, 2565319-2565320, 2565344-2565391, 2565950, 2566481-2566482, 2566499-2566507, 2566521-2566522, 2566813-2566825, 2566844-2566846 |
| 458 | PMS2 | 7 | 0.99729625337968 | 7 | 2589 | 6013046-6013052 |
| 459 | TWIST1 | 7 | 0.78981937602627 | 128 | 609 | 19156568-19156583, 19156621-19156624, 19156627, 19156634, 19156638-19156644, 19156678-19156688, 19156693-19156694, 19156697, 19156702-19156704, 19156792-19156844, 19156850-19156868, 19156871, 19156916-19156924 |
| 460 | DNAH11 | 7 | 0.99992631889184 | 1 | 13572 | 21924014 |
| 461 | KLHL7 | 7 | 0.9977285633163 | 4 | 1761 | 23163429-23163432 |
| 462 | HOXA13 | 7 | 0.72750642673522 | 318 | 1167 | 27239194-27239232, 27239308-27239357, 27239364-27239380, 27239383-27239395, 27239403-27239591, 27239602-27239611 |
| 463 | PGAM2 | 7 | 0.99475065616798 | 4 | 762 | 44104971, 44104983, 44105019, 44105128 |
| 464 | GCK | 7 | 0.99571734475375 | 6 | 1401 | 44191873-44191876, 44191885-44191886 |
| 465 | CCM2 | 7 | 0.86591760299625 | 179 | 1335 | 45039933-45039962, 45113068-45113079, 45113875-45113880, 45113900-45113911, 45113919-45113921, 45113933-45113999, 45115376-45115377, 45115456-45115468, 45115504-45115514, 45115596-45115612, 45115640, 45115644-45115648 |
| 466 | GUSB | 7 | 0.99693251533742 | 6 | 1956 | 65439675, 65439910, 65440045, 65445341, 65445344, 65446966 |
| 467 | ASL | 7 | 0.82007168458781 | 251 | 1395 | 65546896-65546897, 65546963-65546971, 65548117-65548118, 65551629-65551630, 65551738-65551739, 65551751-65551759, 65552753-65552778, 65553821, 65553828-65553832, 65553836, 65553868-65553871, 65553897-65553908, 65554078-65554109, 65554128-65554159, 65554599-65554602, 65554630-65554663, 65557001-65557027, 65557051, 65557630-65557647, 65557755-65557761, 65557837-65557843, 65557886-65557899 |
| 468 | KCTD7 | 7 | 0.90919540229885 | 79 | 870 | 66094061, 66094074-66094091, 66094095-66094106, 66094134-66094164, 66094179-66094195 |
| 469 | SBDS | 7 | 0.97609561752988 | 18 | 753 | 66456147-66456164 |
| 470 | NCF1 | 7 | 0.90787878787879 | 76 | 825 | 72639957-72639996, 72640033-72640039, 72644215-72644236, 72645927, 72648745-72648750 |
| 471 | ELN | 7 | 0.95264367816092 | 103 | 2175 | 73442518-73442599, 73456957, 73466266-73466271, 73466276-73466289 |
| 472 | NCF1 | 7 | 0.95225916453538 | 56 | 1173 | 74193665-74193678, 74202425-74202430, 74202967, 74202973, 74203002, 74203005-74203007, 74203010-74203012, 74203017, 74203024, 74203030, 74203043-74203048, 74203383-74203400 |
| 473 | POR | 7 | 0.55800293685756 | 903 | 2043 | 75608780-75608805, 75608856, 75609753-75609775, 75610371-75610385, 75610389, 75610422-75610445, 75610486, 75610871, 75610923, 75611542-75611545, 75611624-75611625, 75612872-75612877, 75612947-75612950, 75612954, 75613074-75613095, 75614120, 75614123, 75614164-75614170, 75614178-75614276, 75614376-75614437, 75614446-75614525, 75614897-75614900, 75614910-75615041, 75615074-75615079, 75615115-75615150, 75615159-75615166, 75615241-75615386, 75615477-75615491, 75615501-75615559, 75615655-75615664, 75615667-75615672, 75615689-75615769, 75615775-75615781, 75615789-75615799 |
| 474 | HSPB1 | 7 | 0.99352750809061 | 4 | 618 | 75932256-75932259 |
| 475 | RELN | 7 | 0.99961453213838 | 4 | 10377 | 103629800-103629803 |
| 476 | IFRD1 | 7 | 0.99926253687316 | 1 | 1356 | 112090818 |
| 477 | CFTR | 7 | 0.97456673418861 | 113 | 4443 | 117188713-117188753, 117188760-117188800, 117188847-117188877 |
| 478 | IMPDH1 | 7 | 0.99944444444444 | 1 | 1800 | 128049920 |
| 479 | FLNC | 7 | 0.99070677427244 | 76 | 8178 | 128470701-128470748, 128470897-128470909, 128470990, 128471011-128471015, 128471019-128471020, 128471022, 128471026-128471027, 128477276-128477277, 128477309-128477310 |
| 480 | BRAF | 7 | 0.99565406345067 | 10 | 2301 | 140624404, 140624408, 140624414-140624421 |
| 481 | PRSS1 | 7 | 0.94489247311828 | 41 | 744 | 142460332-142460372 |
| 482 | KCNH2 | 7 | 0.97126436781609 | 100 | 3480 | 150655160-150655166, 150655203-150655210, 150671869-150671882, 150674931-150675001 |
| 483 | SHH | 7 | 0.72570194384449 | 381 | 1389 | 155595594-155595598, 155595697-155595708, 155595728-155595872, 155595878-155595894, 155595907, 155595919-155595929, 155595931, 155595935-155595949, 155595965-155595976, 155595980-155595984, 155596033, 155596036-155596037, 155596045-155596064, 155596069, 155596089-155596091, 155596108, 155596117-155596119, 155596125-155596130, 155596141-155596151, 155596166-155596236, 155596296-155596328, 155596380, 155599094, 155599115-155599117 |
| 484 | MNX1 | 7 | 0.61940298507463 | 459 | 1206 | 156798402-156798418, 156798461, 156799253-156799263, 156802394-156802409, 156802472, 156802476, 156802525-156802551, 156802564-156802566, 156802601-156802605, 156802618-156802820, 156802831-156802837, 156802847-156802947, 156802954-156802985, 156802993-156803026 |
| 485 | GATA4 | 8 | 0.99473288186606 | 7 | 1329 | 11565907-11565912, 11566362 |
| 486 | NEFL | 8 | 0.99938725490196 | 1 | 1632 | 24813419 |
| 487 | CHRNA2 | 8 | 0.99496855345912 | 8 | 1590 | 27320584-27320591 |
| 488 | ANK1 | 8 | 0.99859501229364 | 8 | 5694 | 41553928, 41559606-41559612 |
| 489 | HGSNAT | 8 | 0.93815513626834 | 118 | 1908 | 42995640-42995757 |
| 490 | CNGB3 | 8 | 0.97242798353909 | 67 | 2430 | 87588260-87588326 |
| 491 | GDF6 | 8 | 0.99195906432749 | 11 | 1368 | 97157567-97157577 |
| 492 | SLURP1 | 8 | 0.10576923076923 | 279 | 312 | 143822561, 143822576-143822687, 143823221-143823340, 143823758-143823803 |
| 493 | CYP11B1 | 8 | 0.98611111111111 | 21 | 1512 | 143958513-143958533 |
| 494 | CYP11B2 | 8 | 0.99867724867725 | 2 | 1512 | 143996539, 143996553 |
| 495 | PLEC | 8 | 0.70124510850231 | 4199 | 14055 | 144990409-144990410, 144990481, 144990484, 144990488, 144990525-144990550, 144990595, 144990598, 144990604, 144990784, 144991057, 144991891, 144992176, 144992353-144992355, 144992361, 144992386-144992398, 144992407, 144992419-144992422, 144992597, 144992600, 144992606, 144992731, 144992791-144992795, 144992954, 144992967, 144993021-144993027, 144993214, 144993324, 144993377, 144993481-144993487, 144993583-144993598, 144993601-144993603, 144993826-144993828, 144993831-144993840, 144993890-144993893, 144993931, 144994311, 144994352-144994354, 144994369-144994373, 144994376, 144994387-144994388, 144994394-144994396, 144994402-144994406, 144994461, 144994475, 144994764, 144994838, 144995407-144995422, 144995501, 144995525, 144995530, 144995541, 144995596-144995601, 144995706, 144995709-144995720, 144995736, 144995810-144995826, 144995920-144995944, 144996192, 144996198-144996203, 144996206, 144996226, 144996229-144996274, 144996367-144996393, 144996527-144996563, 144996687-144996690, 144996721-144996722, 144996733, 144996748, 144996754, 144996780-144996820, 144996865, 144996868, 144996880-144996891, 144996895-144996896, 144996994, 144997000, 144997003-144997011, 144997057-144997133, 144997309-144997348, 144997423-144997471, 144997485, 144997490, 144997494-144997501, 144997514-144997522, 144997560-144997566, 144997615-144997637, 144997669, 144997687-144997712, 144997822-144997860, 144997864-144997867, 144997890-144997952, 144997979-144997988, 144998015, 144998018, 144998021-144998023, 144998029, 144998055-144998063, 144998068-144998073, 144998095-144998099, 144998107-144998116, 144998149-144998160, 144998169, 144998182, 144998186-144998190, 144998201, 144998206, 144998214-144998216, 144998225, 144998245-144998288, 144998322-144998323, 144998410-144998424, 144998455-144998532, 144998542, 144998545, 144998554-144998606, 144998617-144998626, 144998647-144998677, 144998697-144998700, 144998708, 144998711-144998715, 144998754-144998768, 144998789-144998838, 144998858-144998931, 144998947, 144998963-144998992, 144999003-144999159, 144999164, 144999189, 144999197, 144999230-144999300, 144999319-144999357, 144999364-144999369, 144999374-144999397, 144999417, 144999437-144999568, 144999597-144999645, 144999655-144999723, 144999733-144999792, 144999812-144999863, 144999866-144999999, 145000027, 145000030-145000052, 145000952-145000953, 145000956-145000958, 145000966-145000970, 145001031, 145001040-145001049, 145001226-145001239, 145001471-145001483, 145001585-145001606, 145001612-145001645, 145001661-145001669, 145001674, 145001710-145001767, 145001784, 145001799-145001822, 145001836-145001860, 145001868, 145001874, 145001880-145001885, 145001902-145001907, 145001913-145001923, 145002026-145002077, 145002123-145002148, 145003295-145003340, 145003367, 145003374-145003394, 145003587-145003595, 145003603-145003606, 145003680, 145003710, 145003814-145003878, 145003918-145003963, 145003995-145003997, 145004104-145004167, 145004178-145004226, 145004313, 145004324, 145004387-145004425, 145004434-145004466, 145004571-145004607, 145004648, 145004654-145004665, 145005702-145005703, 145005709-145005745, 145005763, 145005770, 145005824-145005827, 145006106-145006200, 145006298-145006398, 145006568-145006586, 145006607-145006635, 145006663-145006700, 145006710-145006729, 145006803-145006845, 145006851-145006880, 145006961-145007034, 145007043, 145007056-145007059, 145007109, 145007118, 145007121, 145007133, 145007148, 145007164-145007174, 145007212, 145007229-145007241, 145007256, 145007379-145007380, 145007391-145007392, 145007472-145007494, 145008168-145008187, 145008195-145008219, 145008254-145008259, 145008489-145008559, 145008573, 145008604-145008613, 145008803-145008822, 145008837-145008880, 145008978-145009012, 145009028, 145009031, 145009034-145009040, 145009045, 145009048-145009067, 145009075, 145009079-145009097, 145009179-145009245, 145009264-145009285, 145009370-145009390, 145009402-145009425, 145009455-145009481, 145010046, 145010051-145010077, 145010085-145010086, 145010116-145010124, 145010127, 145010148-145010160, 145010178-145010182, 145011167, 145011197-145011239, 145011334-145011404, 145012341-145012362, 145012383-145012400, 145024365, 145024369, 145024380-145024382, 145024423, 145024435-145024440, 145024449, 145024453-145024457, 145024460-145024477, 145024487-145024489, 145024555, 145024565-145024570, 145024581-145024582, 145024586-145024587, 145024691-145024739, 145024829-145024874 |
| 496 | GPT | 8 | 0.20456069751844 | 1186 | 1491 | 145729688-145729716, 145729724-145729750, 145729780-145729815, 145729826-145729849, 145730026-145730070, 145730247-145730262, 145730381-145730433, 145730481, 145730486-145730491, 145730497-145730514, 145730629-145730766, 145730776, 145730787-145730840, 145730849-145730872, 145731231-145731310, 145731378-145731514, 145731615-145731789, 145731884-145731930, 145731941-145732039, 145732114-145732119, 145732125-145732173, 145732179-145732226, 145732293-145732328, 145732330-145732340, 145732358-145732383 |
| 497 | RECQL4 | 8 | 0.27819134270747 | 2618 | 3627 | 145736814-145736859, 145736870-145736938, 145737076-145737172, 145737294-145737450, 145737527-145737695, 145737701-145737707, 145737775-145737797, 145737809-145737813, 145737816-145737818, 145737823-145737842, 145737852-145737944, 145738025-145738154, 145738230-145738259, 145738268-145738521, 145738617-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739341, 145739369-145739491, 145739573-145739593, 145739636-145739666, 145739675-145739728, 145739739, 145740342, 145740361, 145740380-145740414, 145740424-145740456, 145740544-145740550, 145740601-145740626, 145740710-145740725, 145740739-145740785, 145740837-145740838, 145741167-145741184, 145741213-145741238, 145741372-145741401, 145741458-145741459, 145741493-145741533, 145741551, 145741554-145741639, 145741644, 145741646-145741675, 145741711-145741731, 145741787-145741789, 145741796, 145741823-145741894, 145741907-145741909, 145741924-145741940, 145741954-145741988, 145742022-145742070, 145742131, 145742468, 145742486-145742493, 145742527-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743142, 145743152-145743168 |
| 498 | DOCK8 | 9 | 0.97666666666667 | 147 | 6300 | 396802-396827, 396858-396880, 396918, 399165-399203, 399257-399259, 404918, 404973-404992, 404998-405027, 405039-405040, 405043, 407032 |
| 499 | VLDLR | 9 | 0.98970251716247 | 27 | 2622 | 2622209-2622214, 2622226, 2622234-2622235, 2622241-2622258 |
| 500 | KCNV2 | 9 | 0.9993894993895 | 1 | 1638 | 2718978 |
| 501 | B4GALT1 | 9 | 0.99665831244779 | 4 | 1197 | 33167140-33167143 |
| 502 | VPS13A | 9 | 0.99958005249344 | 4 | 9525 | 79974279, 79975455-79975457 |
| 503 | ROR2 | 9 | 0.98269774011299 | 49 | 2832 | 94712185-94712229, 94712232-94712235 |
| 504 | FBP1 | 9 | 0.99901671583088 | 1 | 1017 | 97365849 |
| 505 | PTCH1 | 9 | 0.99769797421731 | 10 | 4344 | 98270507, 98270519-98270521, 98270637-98270642 |
| 506 | FOXE1 | 9 | 0.94295900178253 | 64 | 1122 | 100616316-100616332, 100616691-100616737 |
| 507 | TGFBR1 | 9 | 0.99537037037037 | 7 | 1512 | 101867538-101867540, 101867556-101867559 |
| 508 | MUSK | 9 | 0.9992337164751 | 2 | 2610 | 113457759, 113457765 |
| 509 | NR5A1 | 9 | 0.91991341991342 | 111 | 1386 | 127245041-127245068, 127245156-127245176, 127255309-127255328, 127255402, 127262445-127262458, 127262508, 127262545-127262547, 127262594, 127262705-127262709, 127262771-127262774, 127262819-127262821, 127262837-127262841, 127262854-127262856, 127265671, 127265674 |
| 510 | LMX1B | 9 | 0.99195710455764 | 9 | 1119 | 129376866-129376867, 129377665-129377671 |
| 511 | STXBP1 | 9 | 0.99834437086093 | 3 | 1812 | 130374713-130374715 |
| 512 | ENG | 9 | 0.99494183105716 | 10 | 1977 | 130578020, 130578291-130578293, 130586724-130586725, 130588016-130588019 |
| 513 | DOLK | 9 | 0.96474953617811 | 57 | 1617 | 131709003, 131709007-131709028, 131709035-131709036, 131709333, 131709386-131709393, 131709537-131709551, 131709562-131709564, 131709573-131709577 |
| 514 | POMT1 | 9 | 0.99632690541781 | 8 | 2178 | 134394828-134394832, 134394837, 134396808, 134398327 |
| 515 | TSC1 | 9 | 0.97453505007153 | 89 | 3495 | 135771910, 135771913-135771914, 135771917, 135771920-135771943, 135771988-135771993, 135772031-135772041, 135772849-135772850, 135778120, 135781232-135781272 |
| 516 | CEL | 9 | 0.81946279172171 | 410 | 2271 | 135937415-135937417, 135946012-135946018, 135946469-135946475, 135946574-135946599, 135946653-135946901, 135946940-135947001, 135947026-135947074, 135947085-135947091 |
| 517 | SURF1 | 9 | 0.95127353266888 | 44 | 903 | 136223160-136223165, 136223285-136223322 |
| 518 | ADAMTS13 | 9 | 0.8608776844071 | 596 | 4284 | 136293754-136293891, 136295059-136295076, 136295082-136295117, 136295150-136295204, 136298541, 136298544-136298551, 136298761-136298780, 136298821, 136301949-136301955, 136301984-136302016, 136302040-136302075, 136302869-136302880, 136302885-136302891, 136302913-136302914, 136302922-136302924, 136302927, 136302930-136302932, 136303012, 136305623-136305624, 136305637-136305645, 136307840-136307841, 136308497-136308514, 136308542, 136308546, 136308549, 136308569, 136308574, 136308589, 136308632-136308645, 136310086, 136310091, 136310152-136310157, 136310857, 136310886-136310906, 136313831-136313832, 136315086, 136319593, 136319596, 136319641-136319647, 136319702, 136319713, 136320475-136320504, 136320533, 136320550, 136320592-136320621, 136321311-136321320, 136321709, 136321765-136321806, 136323164, 136324145, 136324175, 136324188 |
| 519 | DBH | 9 | 0.95091693635383 | 91 | 1854 | 136516769, 136516774-136516781, 136516875-136516881, 136521748-136521749, 136521761-136521766, 136522232-136522272, 136522278, 136522320-136522344 |
| 520 | SARDH | 9 | 0.91657598839318 | 230 | 2757 | 136531965-136531967, 136535706-136535780, 136535796, 136535801-136535821, 136535824, 136535832-136535874, 136536659-136536679, 136536698, 136536707-136536710, 136536758-136536776, 136536792-136536808, 136559380-136559384, 136559459-136559460, 136559485, 136559493, 136568089, 136570086, 136570089, 136577744-136577750, 136578215, 136582476, 136582481-136582483 |
| 521 | COL5A1 | 9 | 0.93075947072684 | 382 | 5517 | 137534034-137534142, 137582898-137582925, 137591765-137591767, 137591816, 137591829-137591841, 137591843, 137591854-137591856, 137591866-137591881, 137591899-137591900, 137591926-137591944, 137591962, 137591966-137591967, 137593032, 137593057-137593106, 137593123-137593155, 137593177-137593179, 137620524-137620530, 137623461, 137623464-137623465, 137623485-137623489, 137623496, 137630344-137630349, 137630622-137630635, 137642401, 137642408-137642410, 137642702-137642728, 137644472-137644481, 137645713, 137645718, 137645721, 137645736, 137646124, 137653780-137653782, 137653785, 137653811, 137653820-137653824, 137671984, 137694797-137694798, 137694826-137694827 |
| 522 | LHX3 | 9 | 0.93465674110835 | 79 | 1209 | 139090545-139090553, 139090767-139090803, 139090848-139090853, 139094819, 139094841-139094866 |
| 523 | INPP5E | 9 | 0.7922480620155 | 402 | 1935 | 139326325-139326347, 139326356-139326371, 139326379, 139326426-139326437, 139327034, 139327439, 139327623-139327626, 139327680-139327727, 139328507, 139333060-139333087, 139333136-139333139, 139333155, 139333178, 139333201, 139333216, 139333247-139333252, 139333322-139333326, 139333331-139333337, 139333340, 139333382-139333399, 139333430-139333448, 139333479-139333527, 139333620-139333655, 139333671-139333712, 139333716, 139333755-139333790, 139333833-139333871 |
| 524 | NOTCH1 | 9 | 0.48030777256129 | 3985 | 7668 | 139390525-139390527, 139390546-139390547, 139390576-139390608, 139390650-139390654, 139390785-139390788, 139390839-139390867, 139390875-139390876, 139390890-139390897, 139390914-139390964, 139390990-139390996, 139391001, 139391006-139391009, 139391037-139391076, 139391124-139391166, 139391182-139391191, 139391195-139391306, 139391314-139391370, 139391409-139391423, 139391436-139391447, 139391452-139391454, 139391458-139391460, 139391504-139391543, 139391575-139391591, 139391618, 139391621, 139391627-139391630, 139391636, 139391670-139391716, 139391748-139391752, 139391775-139391778, 139391786-139391787, 139391791, 139391799, 139391807, 139391832-139391859, 139391869-139391909, 139391983, 139391991-139391995, 139392000, 139392006, 139393419-139393421, 139393431-139393432, 139393564-139393608, 139393617-139393630, 139395046-139395065, 139395085-139395113, 139395123-139395165, 139395184-139395213, 139395224, 139395244-139395268, 139395298-139395299, 139396202-139396205, 139396213-139396223, 139396295-139396337, 139396357-139396358, 139396453-139396476, 139396483-139396489, 139396724-139396730, 139396882-139396906, 139396913-139396940, 139397643-139397646, 139397711-139397737, 139399125-139399132, 139399140-139399188, 139399213-139399223, 139399228, 139399231, 139399237, 139399249-139399260, 139399305-139399317, 139399369, 139399424-139399427, 139399437, 139399469-139399496, 139399533-139399534, 139399787-139399788, 139399797-139399799, 139399832-139399850, 139399862-139399876, 139399916-139399938, 139399971-139399973, 139399977, 139399993-139400010, 139400016-139400022, 139400033-139400044, 139400057, 139400134-139400142, 139400168-139400193, 139400201-139400224, 139400256-139400321, 139400324-139400333, 139400979-139401003, 139401008, 139401013, 139401075-139401091, 139401168-139401195, 139401225-139401271, 139401282-139401341, 139401344, 139401771, 139401850, 139401855-139401860, 139402436-139402440, 139402445, 139402473-139402499, 139402567-139402569, 139402572, 139402684-139402766, 139402818, 139402832-139402837, 139403322-139403331, 139403345-139403438, 139403460-139403464, 139403482-139403483, 139403487-139403489, 139403505-139403507, 139403515-139403523, 139404211, 139404307, 139404316-139404322, 139404408-139404413, 139405131-139405195, 139405203-139405235, 139405613-139405641, 139405644-139405647, 139405668-139405694, 139405722, 139407473-139407477, 139407514-139407539, 139407548-139407586, 139407847, 139407853-139407878, 139407881-139407900, 139407909, 139407929-139407939, 139407942-139407950, 139407986-139407987, 139408962-139408980, 139408992, 139409009-139409029, 139409043-139409062, 139409072-139409115, 139409142-139409154, 139409742-139409762, 139409793-139409832, 139409838-139409844, 139409935-139409973, 139409989-139409990, 139410002-139410007, 139410014-139410019, 139410051-139410132, 139410161-139410164, 139410433-139410459, 139410472-139410521, 139410534, 139411724-139411803, 139411814-139411820, 139411833-139411837, 139412204-139412389, 139412589-139412646, 139412656-139412685, 139412691-139412717, 139412731-139412744, 139413045-139413213, 139413255-139413276, 139413895-139413939, 139413972-139414017, 139417302-139417396, 139417408-139417640, 139418169-139418431, 139438476-139438490, 139438497-139438554, 139440178-139440238 |
| 525 | AGPAT2 | 9 | 0.69772998805257 | 253 | 837 | 139568218, 139571037-139571052, 139571078-139571088, 139571429-139571461, 139571545-139571548, 139571890-139571911, 139571971-139571980, 139571983, 139571986-139571991, 139581640-139581674, 139581677-139581678, 139581683-139581725, 139581741-139581809 |
| 526 | SLC34A3 | 9 | 0.365 | 1143 | 1800 | 140126170-140126192, 140126597, 140126602-140126603, 140126612-140126613, 140127027-140127089, 140127121, 140127149-140127151, 140127154-140127155, 140127292-140127330, 140127338-140127367, 140127456-140127463, 140127476, 140127528-140127536, 140127702-140127747, 140127765-140127842, 140127851, 140128085-140128117, 140128124-140128174, 140128315-140128393, 140128561-140128646, 140128666-140128727, 140128878-140128891, 140128895-140128921, 140128927-140128973, 140128979-140128984, 140129060-140129064, 140129073, 140129085, 140129088, 140129113-140129120, 140129123-140129134, 140129151, 140130404-140130520, 140130532-140130633, 140130660-140130696, 140130700-140130702, 140130716-140130810, 140130823-140130868 |
| 527 | EHMT1 | 9 | 0.84218629715166 | 615 | 3897 | 140513491-140513494, 140513499-140513501, 140605438, 140605446-140605449, 140611078-140611634, 140622896, 140669658-140669664, 140671239-140671254, 140728946, 140728959-140728964, 140728973, 140729367-140729380 |
| 528 | SHOX | X | 0.70420932878271 | 260 | 879 | 591633-591768, 591774-591775, 591785, 591789-591806, 591891-591897, 591909, 595367-595410, 595431-595477, 595522, 595556-595558 |
| 529 | CSF2RA | X | 0.63218390804598 | 480 | 1305 | 1401597, 1401623-1401630, 1404671-1404712, 1404776-1404781, 1407443-1407449, 1407502, 1409294-1409311, 1409332, 1409346-1409351, 1409354-1409359, 1409372, 1413221-1413354, 1414331, 1419384-1419406, 1419411, 1419431-1419484, 1419493-1419503, 1422154-1422255, 1422816-1422852, 1422893-1422900, 1424409-1424420 |
| 530 | ARX | X | 0.99585553582001 | 7 | 1689 | 25031662-25031665, 25031777-25031779 |
| 531 | RPGR | X | 0.8008094825094 | 689 | 3459 | 38144958-38144961, 38145068, 38145071-38145074, 38145122-38145126, 38145166-38145197, 38145219, 38145223-38145258, 38145271, 38145285-38145317, 38145321, 38145338-38145382, 38145389-38145444, 38145451-38145641, 38145660-38145722, 38145725-38145763, 38145834-38145853, 38145864-38145909, 38145935, 38145939, 38145969-38145970, 38145981-38146014, 38146043-38146057, 38146062, 38146352-38146385, 38147114-38147133, 38147136, 38147140-38147141 |
| 532 | AR | X | 0.99420919290626 | 16 | 2763 | 66765159-66765171, 66766357-66766359 |
| 533 | EDA | X | 0.99574829931973 | 5 | 1176 | 69247794-69247798 |
| 534 | TAF1 | X | 0.99718409010912 | 16 | 5682 | 70586191-70586206 |
| 535 | SOX3 | X | 0.99254287844892 | 10 | 1341 | 139586503-139586512 |
| 536 | SLC6A8 | X | 0.91561844863732 | 161 | 1908 | 152954030-152954054, 152954096-152954158, 152954166, 152954169, 152954182-152954240, 152958951, 152959470-152959472, 152959988-152959993, 152960228, 152960535 |
| 537 | ABCD1 | X | 0.91197497765862 | 197 | 2238 | 152990729-152990742, 152990840-152990843, 152990882-152990885, 152990888-152990889, 152990893-152990895, 152990908-152990916, 152990920-152990937, 152990963-152990969, 152990985-152990989, 152991000, 152991191-152991209, 152991248-152991265, 152991427-152991460, 152991469-152991472, 152991566-152991572, 153001676-153001693, 153008675-153008678, 153008705-153008711, 153008981-153008987, 153009083-153009094 |
| 538 | MECP2 | X | 0.97261189044756 | 41 | 1497 | 153363062-153363102 |
| 539 | OPN1LW | X | 0.96803652968037 | 35 | 1095 | 153418456, 153418460, 153418520-153418548, 153424291-153424294 |
| 540 | OPN1MW | X | 0.95890410958904 | 45 | 1095 | 153453477, 153453493, 153455651-153455668, 153458983-153458994, 153459003, 153459007, 153459077-153459083, 153461421-153461424 |
| 541 | OPN1MW | X | 0.97351598173516 | 29 | 1095 | 153492769-153492786, 153496195-153496201, 153498539-153498542 |
| 542 | FLNA | X | 0.98212487411883 | 142 | 7944 | 153580330, 153583313-153583328, 153585818-153585822, 153587514-153587516, 153587616-153587622, 153587938-153587942, 153588414-153588429, 153588843, 153588881-153588882, 153590410-153590416, 153590437-153590456, 153590463, 153590796-153590802, 153591036-153591039, 153592408-153592413, 153599399-153599404, 153599529-153599557, 153599579-153599584 |
| 543 | EMD | X | 0.98692810457516 | 10 | 765 | 153607853-153607862 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 2.5 | WNT10A-F228I | het unknown | 0.019 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 2 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | ATP8B1-R952Q | homozygous | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2 | CASP10-V410I | het unknown | 0.047 | Dominant protective | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.874 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2 | CASP10-L522I | homozygous | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-I4314V | het unknown | 0.007 | 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 | het unknown | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-H1923R | het unknown | 0.028 | 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 | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-T98I | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | SP110-M523T | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-L425S | homozygous | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-G299R | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-A206V | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-W112R | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | PCSK9-A53V | het unknown | 0.096 | 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 | C3-P314L | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | C3-R102G | het unknown | 0.152 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 1.5 | LRP5-V667M | het unknown | 0.041 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | LRP5-A1330V | het unknown | 0.110 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | CILP-G1166S | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-I395T | homozygous | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.125 | RYR2-G1885E | het unknown | 0.018 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.125 | RYR2-Q2958R | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AX746964-G175Shift | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | RNASEL-D541E | homozygous | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | RNASEL-R462Q | het unknown | 0.278 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | F5-M1764V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K925E | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | het unknown | 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 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CHIT1-A442G | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CHIT1-G102S | het unknown | 0.281 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (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 | C19orf55-G398Shift | homozygous | Unknown | 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 | TGIF1-P292L | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | 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 |
| 1 | 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 |
| 1 | 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 |
| 1 | HLA-DQA1-Y48F | homozygous | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q57E | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | 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 |
| 1 | HLA-DQA1-R70Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-W71L | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E73L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-S75R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-K76R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | HLA-DQA1-G79R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | 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 |
| 1 | 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 |
| 1 | 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 |
| 1 | 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 |
| 1 | HLA-DQA1-M99V | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | 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 |
| 1 | HLA-DQA1-Q198E | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M230V | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | MUS81-R350W | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.919 (probably damaging) |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ARMS2-A69S | het unknown | 0.207 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF167-T350A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RPGRIP1L-R744Q | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CYBA-Y72H | homozygous | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TNXB-R48P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SEBOX-L207S | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | 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-P998L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | OR13A1-Y269Shift | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TMPRSS3-G111S | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TMPRSS3-V53I | het unknown | 0.081 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests |
| 1 | SCARF2-A832G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SCARF2-A814G | homozygous | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MICA-R29P | homozygous | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | MICA-G198S | homozygous | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MICA-G318Shift | homozygous | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ABCC11-G180R | het unknown | 0.098 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 1 | CELA1-L210Shift | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 1 | CELA1-M59V | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
| 1 | CELA1-Y5P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CELA1-V3Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ABCA4-R212H | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | 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 | KRT4-V330M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KRT4-Q230R | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT4-A146V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TOR1A-D216H | het unknown | 0.103 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF480-P177S | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging) |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-G528S | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-E603Q | homozygous | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GPR98-L1093F | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V1951I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-P1987L | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-L2004F | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-R2097C | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-Y2232C | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2345S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2584S | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3471K | homozygous | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3867K | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | GPR98-V5427M | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V5876I | homozygous | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DGKK-L1014Shift | 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 | PLXNA3-R350Q | homozygous | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.604 (possibly damaging) |
| 1 | CXorf51-Q9Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | SYNE2-I574T | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests |
| 1 | SYNE2-S2802G | het unknown | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 1 | SYNE2-N3130S | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 1 | SYNE2-V3827L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | SYNE2-N3982H | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests |
| 1 | SYNE2-W4001Q | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | SYNE2-P4912A | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 1 | SYNE2-L5186M | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PCDH19-R744Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TTF1-R401Q | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), 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 | NR_027127-W61* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | HNF1A-I27L | homozygous | 0.260 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HNF1A-S487N | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AGL-G1115R | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-M356I | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | het unknown | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | C5orf20-R117* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C5orf20-N97D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C5orf20-T75P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | HRNR-L2688S | homozygous | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-C1414Y | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | homozygous | 0.748 | 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 | het unknown | 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 | |
| 0.75 | ANKK1-A239T | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.852 (probably damaging) |
| 0.75 | ANKK1-G318R | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.75 | ANKK1-G442R | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ANKK1-H490R | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.75 | ANKK1-E713K | het unknown | 0.237 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CST3-A25T | het unknown | 0.171 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | OTOF-AV1222GH | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | OTOF-E1194Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | 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 |
| 0.75 | ADD1-G460W | het unknown | 0.157 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.75 | ADD1-S617C | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.625 | ASPM-L2647I | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | ASPM-S2562G | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | ASPM-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | ASPM-I2445Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 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 |
| 0.625 | NOTCH2-P210L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | NOTCH2-A21T | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | NOTCH2-P6Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 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 | SLC12A3-A264G | homozygous | 0.973 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC12A3-R913Q | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC28A2-P22L | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A2-S75R | homozygous | 0.497 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYH6-V1101A | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-G56R | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | LCAT-S232T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GMPR2-G242D | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 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 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZFYVE19-S376A | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK2-R521H | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SH2B1-T484A | homozygous | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NOD2-P268S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NOD2-V955I | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | GALC-T641A | homozygous | 0.959 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-D248N | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-A21P | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.163 (benign), 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 | 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 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | SERPINA12-R211* | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 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-E1281K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TRPM1-S32N | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | 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 | 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 | COG7-T605M | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEZ6L2-D518N | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | SEZ6L2-R74P | het unknown | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | ABCC6-H632Q | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | het unknown | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC4-R415Q | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.942 | 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 | DNAI2-A558T | homozygous | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HYDIN-H4269Y | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HYDIN-E4159Q | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-T4004A | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-Q3904Shift | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HYDIN-M3868R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3839L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3741I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3738T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L3315P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3290P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I2693S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2588R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-D2569N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-G2557E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2529E | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L2501S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-P2454Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-N2444I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-E2305G | het unknown | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | HYDIN-R2297G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HYDIN-Q2275R | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-Q2241R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-V2098M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-R2086C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HYDIN-I1533V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-P1491H | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | HYDIN-V1228L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I1077V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.5 | HYDIN-N724D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-T690A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-M15T | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | BCAM-S447L | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.051 (benign), Testable gene in GeneTests |
| 0.5 | BCAM-T539A | het unknown | 0.329 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | BCAM-Q581L | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.79 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CCDC8-D326G | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.947 (probably damaging) |
| 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 | PLA2G4C-I143V | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-Y58C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | TGFB1-P10L | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | homozygous | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | homozygous | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), 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 | het unknown | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EMR3-R385Q | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | EMR3-Q312Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | EMR3-T310Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NOTCH3-A2223V | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DLL3-F172C | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DLL3-L218P | het unknown | 0.593 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-R190W | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF577-T375I | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | ZNF577-E373K | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF577-R357S | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF577-R346C | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ZNF577-Y270C | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ZNF577-K246E | het unknown | 0.472 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC3A1-M618I | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | 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-I1461V | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-V623M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TPO-A373S | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TPO-S398T | homozygous | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.5 | NLRP7-A481T | homozygous | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TNNT1-E12G | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK094748-S209Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZNF544-Q700R | homozygous | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | ZNF544-R708W | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ACSBG2-V143A | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACSBG2-G584D | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ACSBG2-G586D | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | ACSBG2-R624K | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACSBG2-E626Q | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TNFRSF11A-H141Y | homozygous | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests |
| 0.5 | TNFRSF11A-A192V | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCL14-S25F | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | KRT39-R456Q | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.543 (possibly damaging) |
| 0.5 | KRT39-L383M | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | KRT39-T341M | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.158 (benign) |
| 0.5 | KRT34-I280T | het unknown | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRT34-C34Y | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging) |
| 0.5 | PNPO-R116Q | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests |
| 0.5 | KCNJ12-M71I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) | |
| 0.5 | KCNJ12-I100V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNJ12-P156L | het unknown | 0.489 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KCNJ12-D173N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.577 (possibly damaging) |
| 0.5 | KCNJ12-L211F | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.109 (benign) |
| 0.5 | KCNJ12-E239K | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNJ12-E289Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KCNJ12-T290M | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | KCNJ12-V297I | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.427 (possibly damaging) |
| 0.5 | KCNJ12-M302I | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | KCNJ12-E334Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KCNJ12-S343L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.041 (benign) |
| 0.5 | KCNJ12-S371R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) | |
| 0.5 | KCNJ12-E378K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.314 (possibly damaging) | |
| 0.5 | KCNJ12-D402E | het unknown | 0.379 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 0.5 | KCNJ12-S405I | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.101 (benign) |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-S68P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | MAP2K3-A84T | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-T222M | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.815 (possibly damaging) |
| 0.5 | ZNF19-R224Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DHODH-K7Q | homozygous | 0.542 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 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 | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | DLX4-N44S | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COL1A1-T1075A | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ST6GALNAC1-I424V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.221 (possibly damaging) |
| 0.5 | ST6GALNAC1-V80A | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | ASXL3-N954S | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | ASXL3-V1652M | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ASXL3-M1708V | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | ACOX1-I312M | homozygous | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ITGB4-L1779P | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AP1S2-T35A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AP1S2-R29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SCN4A-N1376D | 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 | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AMZ2-N30D | homozygous | 0.762 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AMZ2-R313Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ACIN1-S647SRS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ACIN1-S478F | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | ACIN1-S467P | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | ACIN1-A447P | het unknown | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACIN1-I311M | het unknown | 0.497 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COG1-N392S | homozygous | 0.530 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT5-G543S | homozygous | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT5-S528G | homozygous | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-K192E | homozygous | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-A547S | homozygous | 0.232 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-E1033Q | homozygous | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPATA17-N16S | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EPHX1-Y113H | het unknown | 0.257 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | EDARADD-M9I | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-P3893T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | USH2A-M3868V | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-T3835I | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-D3515A | het unknown | Unknown | 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-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-R1486K | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-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 | FAM71A-N551D | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM71A-K555* | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FAM71A-T577M | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PEAR1-S234P | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PEAR1-S381F | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | ARHGAP30-R1017Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ARHGAP30-L591V | het unknown | 0.491 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | LHX4-N328S | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRG4-R180W | homozygous | 0.299 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PRG4-T604A | homozygous | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRG4-C746S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HMCN1-T1056A | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HMCN1-M2327I | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-I2418T | het unknown | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-H4084Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HMCN1-Q4437R | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-A4720T | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HMCN1-D5087V | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests |
| 0.5 | IDI1-G12A | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ECHDC3-A69T | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ECHDC3-A151T | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ECHDC3-D162N | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 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 | CTNNA3-S596N | het unknown | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CTNNA3-S160T | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | UNC5B-I242V | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | SLC29A3-R18G | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-S158F | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RBP3-R346H | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PPYR1-A99S | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | PPYR1-R240C | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.332 (possibly damaging) |
| 0.5 | PPYR1-V276M | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDNF-W154S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CUBN-E3002G | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-I2984V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-S2717W | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-L2153F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTCHD3-*768Q | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-I584M | homozygous | 0.960 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | homozygous | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MASTL-P620A | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests |
| 0.5 | PGLYRP4-G192V | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PGLYRP4-Q92R | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.719 (possibly damaging) |
| 0.5 | PGLYRP4-I13L | homozygous | 0.809 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FLG-Y3105D | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | 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 | CNKSR1-P284Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | EPB41-V214I | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | EPB41-G532D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CDA-K27Q | homozygous | 0.262 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROCC-LE1031RK | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CROCC-E1037Q | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | ZBTB48-S675A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.711 (possibly damaging) |
| 0.5 | MTHFR-E429A | het unknown | 0.255 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 0.5 | FHAD1-G651R | het unknown | 0.414 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FHAD1-M1262V | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | FHAD1-I1325V | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CLCNKB-R27L | homozygous | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | homozygous | 0.811 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-Y315F | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-L334V | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GJB4-C169W | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | DEM1-L151P | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.948 (probably damaging) |
| 0.5 | KIAA1324-H55Y | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIAA1324-I86V | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1324-T623P | het unknown | 0.634 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1324-L1009P | homozygous | 0.853 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | BNIPL-R189H | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ANXA9-M1V | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ANXA9-D166G | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 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-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 | COL11A1-D46E | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | MAST2-D388E | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAST2-I659M | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.033 (benign) |
| 0.5 | MAST2-G1468A | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.491 (possibly damaging) |
| 0.5 | MAST2-D1551G | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | POMGNT1-M623V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | STIL-H985R | homozygous | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | STIL-A86V | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DPYD-K259E | het unknown | Unknown | 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 | BCAR3-F6Y | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | CDH23-S494N | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-V1672I | homozygous | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | homozygous | 0.414 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANXA11-R230C | homozygous | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | 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-G1405S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLL2-S4010P | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MLL2-R83Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ANKRD53-R349L | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.047 (benign) |
| 0.5 | ANKRD53-M500T | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 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-M2397T | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | FAM55B-V103A | homozygous | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
| 0.5 | SNX19-L878R | homozygous | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-P480L | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | SNX19-S407G | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-D396E | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-G381S | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SNX19-V361L | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WNK1-A141T | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T665I | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | het unknown | 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 | het unknown | 0.432 | Unknown not reviewed | 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 | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | homozygous | 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 | BEST3-Y43H | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SH2B3-W262R | homozygous | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | UTP14C-G85V | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UTP14C-R319H | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-T137M | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_028064-G139D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-G139D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_028064-H41Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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-R2066C | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | FREM2-T2153S | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-T2326I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | 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 | HPD-T33A | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR66-E65EEKEEE | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | WDR66-V307I | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | WDR66-R417Q | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | WDR66-L650F | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WDR66-V870L | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SGCG-N287S | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NUPL1-A34T | het unknown | 0.396 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NUPL1-S166P | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.514 (possibly damaging) |
| 0.5 | TPTE2P1-W112* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | TPTE2P1-G96Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ATM-D1853N | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRIM64-I58T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TRIM64-V68L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TRIM64-R162S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | TRIM64-V238M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TRIM64-E242V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TRIM64-Q358R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TRIM64-Q405R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | het unknown | 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 | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PNLIPRP3-S179Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PNLIPRP3-F332L | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PNLIPRP3-V381I | homozygous | 0.960 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PNLIPRP3-R382G | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BAG3-C151R | homozygous | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FGFR2-S57L | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BTRC-A543S | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RGR-L77F | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYOF-R1783Q | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MYOF-D342N | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 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 | HPS1-G283A | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS1-A186V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ZFYVE27-V82I | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE27-G138V | het unknown | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ACADSB-R13K | homozygous | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.5 | TRPM5-G900S | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRPM5-V335L | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | TRPM5-V254A | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | 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-T879K | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TYR-S192Y | het unknown | 0.271 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-S1666C | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MS4A5-G51E | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MS4A14-N177Y | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MS4A14-G584R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | SBF2-I1277M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SBF2-Q1216E | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH1C-E819D | homozygous | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-G102S | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-D463N | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-V254L | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | 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 | ZNF224-R61G | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.509 (possibly damaging) |
| 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 | HR-C397Y | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | HR-G337D | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BANK1-A383T | homozygous | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.5 | BANK1-C650R | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MANBA-T701M | homozygous | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | UGT2B7-Y268H | homozygous | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEMA3C-V337M | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | AKAP9-M463I | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-I1448V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-N2792S | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-P2979S | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-R3758H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TLR1-H720P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TLR1-S602I | homozygous | 0.485 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TLR1-N248S | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TLR6-S249P | homozygous | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CNGA1-S3F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | DDC-M17V | homozygous | 0.993 | 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 | SDHA-E72K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SDHA-Q65R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TXNDC3-C208R | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPSR1-N107I | homozygous | 0.489 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NPSR1-C197F | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NPSR1-S241R | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.5 | DCHS2-S2117A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
| 0.5 | DCHS2-V2007Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DCHS2-E1595K | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | DCHS2-T1480R | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCHS2-N897S | homozygous | 0.891 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | DCHS2-P870L | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | DCHS2-S344L | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCHS2-H174R | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.317 (possibly damaging) |
| 0.5 | DCHS2-V153A | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.227 (possibly damaging) |
| 0.5 | NR3C2-V180I | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RAMP3-W56R | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 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 | PRSS12-R833Q | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | PRSS12-R55T | homozygous | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | MMAA-Q363H | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TLR10-I775V | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TLR10-I369L | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TLR10-M326T | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | TLR10-V298I | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | TLR10-N241H | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.84 (possibly damaging) |
| 0.5 | TLR10-A163S | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | TLR10-K96R | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | het unknown | 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 | 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 | ARHGEF10-V700I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_015394-G45W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-F74S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | 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 | GBE1-R190G | homozygous | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.025 (benign), 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 | NAT2-I114T | homozygous | 0.398 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ASAH1-V246A | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-I93V | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-V72M | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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-A761V | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UMPS-G213A | homozygous | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCN1-G118W | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ACHE-P592R | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | HTT-Y2309H | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-V2786I | het unknown | 0.216 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EVC-Y258H | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | het unknown | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | 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 | LAMB4-N866S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | TFEC-Q6H | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging) |
| 0.5 | MCCC1-H464P | homozygous | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP6V0A4-V2A | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_002144-DDDFE68Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_002144-SE75P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_002144-L77Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_002144-Q280R | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-Y307H | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-L312R | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ASB15-P57L | homozygous | 0.783 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ASB15-D241Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ASB15-G357A | homozygous | 0.717 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH5-I4450V | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | homozygous | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L2862F | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), 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-T558A | homozygous | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AMACR-E277K | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-L201S | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-G175D | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-V9M | homozygous | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EFHC1-R159W | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 0.5 | PKHD1-Q4048R | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | COL9A1-Q621R | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-S339P | homozygous | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BC040901-C89W | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-P93S | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-A106Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | F12-A207P | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | LCA5-G656D | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | GRM6-Q59P | homozygous | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MUT-I671V | homozygous | 0.608 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-R532H | homozygous | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | 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 | 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 | TREML2-T129S | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | PRPH2-D338G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NFKBIE-V194A | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NFKBIE-P175L | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HLA-DQB1-V235I | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-T217I | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S214N | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A172T | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157A | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G102R | het unknown | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-LL28PV | het unknown | 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 | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D12G | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-L-H17R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-I30V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-W144* | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | HLA-L-C172Y | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HSPA1L-T493M | homozygous | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | AARS2-V730M | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | AARS2-I339V | homozygous | 0.886 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TNXB-G2518E | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CASP8AP2-T1567Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CASP8AP2-S1568Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HOXA1-H72Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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-Q639R | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-S654C | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | het unknown | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-Y2593H | het unknown | 0.040 | Unknown not reviewed | 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-V3715L | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | THSD7A-R841H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | THSD7A-D771E | homozygous | 0.345 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | THSD7A-N583D | het unknown | 0.823 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF638-C1198R | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.879 (probably damaging) |
| 0.5 | APC-V1822D | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AP3B1-V585E | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERAP2-P214L | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ERAP2-K392N | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EPB41L4A-R587L | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | EPB41L4A-N532S | het unknown | 0.651 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EPB41L4A-Y495H | het unknown | 0.759 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EPB41L4A-S366T | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLG-R261H | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PLG-D472N | het unknown | 0.261 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBXL21-N31Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBXL21-V172Del | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FBXL21-P208L | het unknown | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | 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 |
| 0.5 | NIPAL4-S453L | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TAAR2-W168* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation |
| 0.5 | REV3L-T1224I | het unknown | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | REV3L-S1220L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.201 (possibly 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 | 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 | TCOF1-K1298R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TCOF1-A1353V | homozygous | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCOF1-G1394A | het unknown | 0.016 | 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 | 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-A8168S | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | homozygous | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-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 | SYNE1-L885V | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB2-E27Q | het unknown | 0.661 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), 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 | FBXO40-V87A | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.077 (benign) |
| 0.5 | FBXO40-I115S | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | SCN1A-A1056T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | TTN-E32484D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R32018H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R29962H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I26820T | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I25199V | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T24045M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I23649T | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R22371C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-G20990R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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-V19783I | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T18827I | het unknown | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-P17286L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R16903H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-N16125D | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-W13903C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-D12542N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R9852H | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-G9378R | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I9278V | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R8194Q | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-N7559S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S7181N | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-A7111E | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-E6900A | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S6482L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-D6218H | het unknown | 0.157 | 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 | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R328C | het unknown | 0.088 | 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 | SALL4-L507R | homozygous | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCD2-G901V | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | ROR2-V819I | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-T245A | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A3-P296L | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.314 (possibly damaging), 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 | SLC19A1-H27R | homozygous | 0.504 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 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 | OBSL1-R1767Q | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | het unknown | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-P1357S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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 | FAM83H-G902E | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | FAM83H-Q201H | homozygous | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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-Y3217C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LRP2-N83S | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | RECQL4-E267D | het unknown | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | KCNE1-S38G | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | ABCA1-K1587R | homozygous | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-I883M | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-V825I | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CD99-M166V | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.194 (benign) |
| 0.5 | CD99-N173I | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | DEFB126-Q55Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | ALPP-E37Q | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ALPP-R231P | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | COL4A3-G43R | het unknown | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T344A | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-G1376S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | FERMT1-R526K | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FERMT1-R255C | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | FERMT1-I160T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | 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 | IKBKAP-I830M | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-I816L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-G765E | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RALGAPA2-E189G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | MUSK-T100M | het unknown | 0.023 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.488 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUSK-N664S | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.44 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-V1540L | homozygous | 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 | 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-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BMPR2-S775N | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | 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 | KIAA1644-S197L | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | XIAP-Q423P | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.053 (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 | NCRNA00255-P39Shift | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NCRNA00255-P39Shift | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TRIOBP-S217N | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-Q398Del | homozygous | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRIOBP-N863K | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-F1187L | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-H1300R | homozygous | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), 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 | CYP11B2-V386A | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TEKT4-T83M | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.152 (benign) |
| 0.5 | TEKT4-R344L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TEKT4-S349L | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.886 (probably damaging) |
| 0.5 | TEKT4-R351W | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TEKT4-A386G | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.418 (possibly damaging) |
| 0.5 | TEKT4-R391C | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.151 (benign) |
| 0.5 | SCO2-R20P | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SFTPC-T138N | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SFTPC-S186N | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DYSF-I852V | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | F8-D1260E | homozygous | 0.347 | 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 | 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 | 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 | LOXL3-R375H | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.925 (probably damaging) |
| 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 | GGT1-G84S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | NR_027052-R29H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027052-T53Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_027052-Y63N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027052-Q90* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ATRX-Q929E | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JRK-L543V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | JRK-R499C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | JRK-T30M | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PRODH-R521Q | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-W185R | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL6A2-S399N | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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-M3461I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NEB-K2613N | het unknown | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DL492456-R148H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DL492456-Y109C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DL492456-W104* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 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-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 | PIWIL3-V418M | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PIWIL3-C412R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PIWIL3-P375S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.856 (probably damaging) |
| 0.5 | TG-S734A | het unknown | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1312G | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | homozygous | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | homozygous | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | WISP1-A205S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | KIAA1671-K439R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.872 (probably damaging) | |
| 0.375 | MYO15A-C1977R | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | MYO15A-T2654S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 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 | PLEC-RGY2969HG* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | PLEC-S2791P | het unknown | 0.567 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | UNC13D-K867E | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | UNC13D-QD30HH | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | RP1-E366K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | RP1-R872H | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.375 | RP1-N985Y | het unknown | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.375 | RP1-A1670T | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.375 | RP1-S1691P | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | RP1-C2033Y | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.375 | PEX6-P939Q | het unknown | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | PEX6-E592K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | HSPG2-S4331N | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-V3500M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | HSPG2-H3256Y | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-A1503V | het unknown | 0.694 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-N765S | homozygous | 0.933 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-M638V | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | 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 | LMBRD1-D469E | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CALHM1-L86P | het unknown | 0.798 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SMPD1-G508R | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ADRB1-G389R | het unknown | 0.681 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | AIM1-E1196A | het unknown | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.25 | CPT2-V368I | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FUCA1-Q286R | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.25 | FUCA1-R162W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | 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 | 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 | NGF-A35V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.25 | ABCB1-Q1107P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ABCB1-S893A | het unknown | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | COL1A2-P549A | het unknown | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC30A8-R325W | het unknown | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NBN-E185Q | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GBA-K144R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GBA-R140W | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E158K | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E308G | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | GATA4-S377G | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | CFH-H402Y | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | UPK3B-R255S | homozygous | 0.987 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UPK3B-T259Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | UPK3B-K265E | homozygous | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | NR5A1-G146A | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KCNQ4-H455Q | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SOD2-V16A | het unknown | 0.476 | 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 | LIPA-T16P | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | UAP1L1-I465P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UAP1L1-S469* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SEPN1-C108Y | het unknown | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SEPN1-N467K | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EYA4-G277S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCDH15-R934Q | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | 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 | DOCK8-D63N | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.25 | DOCK8-P97T | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.25 | DOCK8-N413S | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
| 0.25 | C8orf73-D453Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C8orf73-T134I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf73-V132A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf73-H97Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CTH-S403I | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LEPR-K109R | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.25 | LEPR-Q223R | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.25 | LRP8-R952Q | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP8-D46E | het unknown | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP8-Q25R | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BBS9-A455T | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCM2-V120I | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ACADS-G209S | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.25 | CETP-V422I | het unknown | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | JUP-M697L | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | KRT14-C63Y | het unknown | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT10-H487Y | het unknown | 0.841 | Unknown not reviewed | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EP300-I997V | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-S1634G | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-K1183R | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-E1038G | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-P871L | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-Y441H | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-H199R | het unknown | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-V780I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CBR3-C4Y | het unknown | 0.368 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | CBR3-V244M | het unknown | 0.400 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.25 | TSEN54-K347N | het unknown | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSEN54-A437V | het unknown | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TBX4-G6A | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests |
| 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 | 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 | LRRC48-R191W | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRRC48-L440Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | XPC-A499V | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCR2-V64I | het unknown | 0.114 | Unknown protective | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | COL7A1-E1297K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | COL7A1-P1277L | het unknown | 0.041 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPING1-V480M | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | LRRC50-L659V | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCA-G809D | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCA-T266A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CELSR1-D2907Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CELSR1-C1126R | homozygous | 0.933 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELSR1-S664W | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.673 (possibly damaging) |
| 0.25 | CELSR1-T346S | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.761 (possibly damaging) |
| 0.25 | ARSA-T391S | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | 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 | 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 | SGSH-R456H | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IFNGR2-Q64R | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), 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 | PRR12-G376Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PRR12-P1516T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ATIC-T116S | het unknown | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | ZNF229-P683Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF229-G662R | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF229-R337C | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF229-S156F | het unknown | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF610-E37Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF610-A131S | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF610-R216P | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | 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 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-V671G | het unknown | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-S2574N | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-D2672H | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-R4029K | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | RAB3GAP1-N598S | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GCKR-L446P | het unknown | 0.679 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UBE2J2-SL52II | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UBE2J2-K46Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | COL6A3-T3069I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-A3012P | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-M2927T | het unknown | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD226-S307G | het unknown | 0.451 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | 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 | 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 | DSG2-R773K | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NDUFS7-P23L | het unknown | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), 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 | 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 | RFX1-E948* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | RFX1-M529T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RFX1-M521V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RFX1-T370A | het unknown | 0.551 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.042 (benign) |
| 0.25 | MAN2B1-R337Q | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-T312I | het unknown | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | STXBP2-I526V | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MKKS-G532V | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MKKS-R517C | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPR56-S281R | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPR56-Q306H | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HSD17B4-R106H | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HSD17B4-I559V | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), 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 | GYS2-M363V | het unknown | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLCO1B1-V174A | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | KRT6B-I365V | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6C-V481I | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | MMAB-M239K | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL13-Q144R | het unknown | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPINK5-R711Q | het unknown | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | FGFR4-P136L | het unknown | 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 | FGF23-T239M | het unknown | 0.105 | 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 | RNF39-A304E | het unknown | 0.173 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF39-A245T | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RNF39-S203P | het unknown | 0.176 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AIP-DQ227GK | het unknown | 0.832 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AIP-DQ227GK | het unknown | 0.832 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TCP11-G266A | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TCP11-D45A | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TCP11-G6Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | 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 |
| 0.25 | ALDH5A1-H180Y | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DYNC2H1-K1413R | homozygous | 0.679 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.063 (benign), Testable gene in GeneTests |
| 0.25 | DYNC2H1-I1473V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | DYNC2H1-R2871Q | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | 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 | FXYD2-E68G | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FXYD2-C62S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | DLAT-A43V | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DLAT-V318A | het unknown | 0.502 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DLAT-D451N | het unknown | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | F13A1-V35L | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ALG9-V289I | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably 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 | 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 | BBS4-I354T | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EIF2B5-I587V | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | OPA1-S158N | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPN2-V536M | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), 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 | CPN2-Q509R | het unknown | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CPN2-A305T | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | ADAMTSL3-H146R | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.25 | ADAMTSL3-L290V | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL3-V661L | het unknown | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL3-G713R | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC28A1-L140LV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLC28A1-V189I | het unknown | 0.303 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-Q237K | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-D521N | het unknown | 0.360 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DRD3-G9S | het unknown | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | IQCB1-C434Y | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | SLC2A2-T110I | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HTR3C-N163K | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
| 0.25 | HTR3C-P342Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HTR3C-G405A | homozygous | 0.511 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.127 (benign) |
| 0.25 | NAGPA-T465I | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NAGPA-C115Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TTBK2-L8P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIX6-H141N | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-R891C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q596R | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q107L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLR3-L412F | het unknown | 0.213 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | CLN5-K368R | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL7R-I66T | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IL7R-V138I | het unknown | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ATP7B-S406A | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COCH-T352S | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ATP10A-A1397V | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ATP10A-R1298S | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ATP10A-E543Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | UGT2A3-A497T | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.418 (possibly damaging) |
| 0.25 | UGT2A3-Q81* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 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 | SPATA7-V74M | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0 | TNFRSF13C-W101* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, 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 |
| 0 | FUT2-W154* | het unknown | 0.491 | Recessive protective | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,776,937,701 bases (97.2% of callable positions, 90.1% of total positions)
Coding region coverage: 32,137,798 bases (96.6% of all genes, 97.3% 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