Variant report for hu9385BA
- Data source: hu9385BA: var-GS000038976-ASM.tsv.bz2
- This report: evidence.pgp-hms.org/genomes?6f03c882e8142638b0f1c8d3d80ff7b1eed18364
- Person ID: hu9385BA
- public profile: my.pgp-hms.org/profile/hu9385BA
- Download: source data, dbSNP and nsSNP report (127 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | PKD1-R4276W | High | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.00200401 | Reported to cause autosomal dominant polycystic kidney disease, but it has been seen in a confirmed-healthy PGP participant and one other presumed-healthy control genome (overall frequency in randomly chosen controls is 1.7%). | 1 |
| 2 | CBS-T460M | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0078125 | Unpublished data suggests this variant causes homocystinuria in a recessive manner, and Polyphen 2 predicts a damaging effect. Without more data we are unable to determine if the unpublished report had any statistical significance supporting it. | 1 |
| 3 | PMP22-Y136S | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.000185908 | Unreported, predicted to be damaging. Other recessive mutations in this gene reported to cause Charcot-Marie-Tooth disease or Dejerine-Sottas disease. | 1 |
| 4 | SERPINA1-R247C | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00260271 | Predicted to be damaging, other recessive mutations in this gene cause antitrypsin alpha 1 deficiency, and this variant is mentioned in an online database linking it to this disease. | 1 |
| 5 | ACADVL-R385W | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0078125 | Predicted to be damaging. Other recessive mutations in this gene cause Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency, and this variant is mentioned in an online database linking it to this disease. | 1 |
| 6 | SLC7A9-A182T | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00325339 | Reported to cause cystinuria when homozygous, may also have symptoms when heterozygous. Although authors reporting the variant as confidently causal and it has some supporting functional evidence, we are unable to establish that the variant has statistical significance for this association. | 1 |
| 7 | TGM1-E520G | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00641502 | This variant was found in three individuals with lamellar ichthyosis (two homozygous and one compound het.) in two publications, but insufficient controls makes it difficult to assess significance. | 1 |
| 8 | MATN3-T303M | Moderate | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.0106698 | An Iceland study implicated this in causing increased osteoarthritis -- in particular, hand osteoarthritis. Because the variant is rare, the statistical significance of observations is weak. The authors estimate that individuals heterozygous for this variant have a 2.1-fold risk for hand osteoarthritis. | 1 |
| 9 | SIAE-M89V | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0400632 | This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort. | 1 |
| 10 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 11 | NOD2-R702W | Low | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.0334821 | NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn's disease in European populations, but not in Korean or Japanese groups. | 1 |
| 12 | 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 |
| 13 | KRT5-G138E | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0521472 | This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant). | 1 |
| 14 | 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 |
| 15 | FANCG-R513Q | Low | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.00715746 | Rare polymorphism. Hypothesized to increase susceptibility to childhood acute myeloid leukemia, but the numbers in the study failed to have statistical significance. | 1 |
| 16 | ATM-D814E | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.00623024 | May be associated with an increased risk of breast cancer. If so, the size of the effect is unknown. | 1 |
| 17 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
| 18 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
| 19 | 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 |
| 20 | 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 |
| 21 | 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 |
| 22 | DYX1C1-E417X | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.20147 | One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. | 1 |
| 23 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 24 | CYP2C9-R144C | Moderate | Well-established | Well-established pharmacogenetic Unknown, Homozygous | 0.0970982 | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. | 1 |
| 25 | 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 |
| 26 | ADRB2-T164I | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.0109686 | This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs. | 1 |
| 27 | 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 |
| 28 | CFB-R32Q | Moderate | Likely | Likely protective Dominant, Heterozygous | 0.117188 | This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect. | 1 |
| 29 | 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 |
| 30 | CFH-V62I | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.391616 | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. | 1 |
| 31 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Homozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 32 | DTNBP1-P272S | Low | Uncertain | Uncertain protective Recessive, Carrier (Heterozygous) | 0.0351366 | Possibly a slight protective effect against colorectal cancer if homozygous. | 1 |
| 33 | COL9A2-T246M | Low | Likely | Likely benign Unknown, Heterozygous | 0.0252835 | Probably benign. | 1 |
| 34 | OCA2-R305W | Low | Likely | Likely benign Unknown, Heterozygous | 0.0815207 | This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). | 1 |
| 35 | 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 | |
| 36 | PKD1-A4059V | Low | Likely | Likely benign Unknown, Heterozygous | 0.0570413 | Probably benign. | 1 |
| 37 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
| 38 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 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 |
| 39 | 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 |
| 40 | LPIN2-L504F | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00316279 | Unreported and rare, tentatively evaluated as benign. Other recessive mutations in this gene cause Majeed syndrome (multifocal osteomyelitis, anemia, and dermatosis). Although unstudied, LPIN2 is in a locus associated with psoriasis. | 1 |
| 41 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 42 | WDR36-H212P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.000465809 | Probably benign. | 1 |
| 43 | KCNQ3-R777Q | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 9.2954e-05 | Tentatively evaluated as benign. Other missense mutations have been reported to cause benign familial neonatal seizures in a dominant manner, this was observed in a PGP participant with no reported family history of this phenotype. | 1 |
| 44 | COL7A1-P1277L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0407139 | Polymorphism, presumed benign. | 1 |
| 45 | COG1-T350M | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00650678 | Uncertain, presumed benign. Seen in 2 out of 128 control chromosomes. Although predicted to be damaging by Polyphen 2, recessive disease caused by disruption of this gene is presumed extremely rare and the only report of a disease-causing mutation in this gene was a frameshift (much more severe). | 1 |
| 46 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
| 47 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 48 | 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 |
| 49 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 50 | NSD1-A2546T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0254001 | Benign, reported as a polymorphism. | 1 |
| 51 | RAPSN-R58C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0778026 | Reported as non-pathogenic polymorphism. | 1 |
| 52 | 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 |
| 53 | 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 |
| 54 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
| 55 | 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 |
| 56 | 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 |
| 57 | POLG-Y831C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00799405 | A rare polymorphism in POLG, probably benign. A small study of a nuclear family hypothesized it was causing Parkinson disease, but a later study found no significant difference in incidence between cases (1/140) and controls (5/127). | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32206309 / 33282720 = 96.77%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.94835451287064 | 317 | 6138 | 955553-955639, 955646-955726, 955732-955753, 970662, 970688-970704, 976119, 976219, 976225-976236, 976240, 976614-976630, 976659, 983600-983617, 983640-983657, 983667-983696, 983710, 983734-983735, 984300-984303, 984307-984309 |
| 2 | GABRD | 1 | 0.9551140544518 | 61 | 1359 | 1950863-1950923 |
| 3 | PEX10 | 1 | 0.83180428134557 | 165 | 981 | 2337205-2337238, 2337925-2337927, 2337930-2337958, 2337971, 2338180-2338190, 2338202, 2338211-2338232, 2338325, 2340005, 2340274-2340276, 2343830-2343874, 2343897-2343909, 2343941 |
| 4 | NPHP4 | 1 | 0.9656622284513 | 147 | 4281 | 6012783-6012785, 6038330-6038473 |
| 5 | ESPN | 1 | 0.72202729044834 | 713 | 2565 | 6485032-6485069, 6485097-6485137, 6485224-6485260, 6485279-6485287, 6488322, 6488325, 6488333, 6488378-6488392, 6488426-6488432, 6488463-6488479, 6500386-6500392, 6500413-6500437, 6500452, 6500485, 6500686-6500692, 6500709-6500803, 6500833, 6500839, 6500867, 6501024-6501065, 6501091-6501103, 6504559-6504595, 6504736-6504742, 6505726-6505744, 6505779, 6505813-6505861, 6505872-6505903, 6505917, 6505934, 6508702, 6508712, 6508730, 6508760-6508766, 6508817-6508857, 6508876-6508892, 6508910-6508928, 6509017-6509023, 6509054-6509078, 6509100-6509145, 6511927-6511959, 6512127-6512133 |
| 6 | PLEKHG5 | 1 | 0.98808403888366 | 38 | 3189 | 6529179-6529212, 6557380-6557383 |
| 7 | PARK7 | 1 | 0.92982456140351 | 40 | 570 | 8025472-8025485, 8029422, 8030963-8030987 |
| 8 | KIF1B | 1 | 0.97195558065123 | 149 | 5313 | 10327476-10327520, 10327548-10327576, 10327594-10327616, 10328266-10328282, 10328286-10328288, 10328303, 10331560-10331563, 10331620-10331622, 10331629-10331637, 10332332-10332335, 10332348, 10357062-10357064, 10435321-10435327 |
| 9 | PEX14 | 1 | 0.99647266313933 | 4 | 1134 | 10684444-10684447 |
| 10 | TARDBP | 1 | 0.95421686746988 | 57 | 1245 | 11082299-11082305, 11082356-11082362, 11082399, 11082584-11082625 |
| 11 | MASP2 | 1 | 0.98738476467734 | 26 | 2061 | 11087155, 11094885-11094886, 11103545-11103566, 11107115 |
| 12 | CLCNKA | 1 | 0.98449612403101 | 32 | 2064 | 16354391-16354397, 16356249-16356256, 16356497, 16356985-16356991, 16358268-16358274, 16360137, 16360144 |
| 13 | CLCNKB | 1 | 0.98498062015504 | 31 | 2064 | 16373044-16373050, 16377999-16378000, 16378725, 16378881-16378887, 16383392-16383405 |
| 14 | PINK1 | 1 | 0.98625429553265 | 24 | 1746 | 20960049-20960050, 20960056-20960062, 20960080, 20960119, 20960209, 20960221, 20960282, 20960322, 20960325, 20960406, 20975714-20975720 |
| 15 | HSPG2 | 1 | 0.99408014571949 | 78 | 13176 | 22155503, 22199140, 22211638-22211650, 22263648-22263710 |
| 16 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
| 17 | FUCA1 | 1 | 0.99928622412562 | 1 | 1401 | 24194692 |
| 18 | LDLRAP1 | 1 | 0.93096008629989 | 64 | 927 | 25870197-25870221, 25870239-25870277 |
| 19 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 20 | YARS | 1 | 0.98046628859483 | 31 | 1587 | 33241582-33241603, 33256824-33256831, 33282793 |
| 21 | KCNQ4 | 1 | 0.99521072796935 | 10 | 2088 | 41249859-41249865, 41249874-41249876 |
| 22 | LEPRE1 | 1 | 0.99909543193125 | 2 | 2211 | 43232597-43232598 |
| 23 | EIF2B3 | 1 | 0.99852832965416 | 2 | 1359 | 45341319-45341320 |
| 24 | STIL | 1 | 0.87561417119214 | 481 | 3867 | 47745913-47745947, 47745968-47745995, 47746022, 47746049-47746063, 47746120, 47746147-47746183, 47746215, 47746223, 47746232, 47746275-47746279, 47746283-47746309, 47746426-47746441, 47746472, 47746492-47746512, 47746527, 47746530, 47746588-47746605, 47746657-47746675, 47746706, 47746721, 47746736-47746738, 47746748, 47746860, 47748017-47748078, 47748091-47748125, 47753244-47753289, 47753315-47753318, 47755115, 47755118-47755120, 47755207-47755217, 47755221-47755237, 47759135-47759141, 47759172, 47759180, 47761511-47761520, 47765664, 47765669, 47765767-47765774, 47765792, 47765800-47765801, 47767253-47767264, 47767280-47767292, 47767310, 47767359, 47767401, 47767408, 47767958-47767960, 47767984-47767985 |
| 25 | ORC1 | 1 | 0.99458623356535 | 14 | 2586 | 52841189-52841190, 52841194-52841196, 52849159-52849165, 52850346, 52854243 |
| 26 | PCSK9 | 1 | 0.98508898508899 | 31 | 2079 | 55505549-55505579 |
| 27 | ACADM | 1 | 0.99765258215962 | 3 | 1278 | 76226944, 76227019, 76227022 |
| 28 | RPL5 | 1 | 0.99552572706935 | 4 | 894 | 93300437-93300440 |
| 29 | AGL | 1 | 0.99456403565993 | 25 | 4599 | 100327211-100327223, 100361911-100361916, 100377985-100377989, 100387137 |
| 30 | COL11A1 | 1 | 0.95565328935312 | 242 | 5457 | 103363707-103363732, 103364222-103364291, 103364537-103364545, 103400005-103400018, 103412405-103412428, 103412453-103412456, 103412481-103412488, 103487263, 103488320-103488353, 103488379-103488401, 103488526-103488537, 103491396-103491398, 103491454-103491456, 103496734-103496744 |
| 31 | NOTCH2 | 1 | 0.99581984897519 | 31 | 7416 | 120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539916, 120539936, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120572609-120572610, 120611964, 120612003-120612004, 120612006 |
| 32 | HFE2 | 1 | 0.99765807962529 | 3 | 1281 | 145415476, 145416588, 145416594 |
| 33 | FLG | 1 | 0.2767109798129 | 8814 | 12186 | 152275622, 152275696-152275716, 152275749-152275770, 152275809-152275815, 152275931-152275955, 152275982-152276007, 152276146-152276197, 152276211-152276218, 152276226-152276260, 152276282, 152276287-152276301, 152276319-152276352, 152276359-152276381, 152276394-152276910, 152276921-152277215, 152277225-152277236, 152277262-152277285, 152277302-152277318, 152277333-152277359, 152277368-152277412, 152277420-152277480, 152277491-152277601, 152277608-152277689, 152277713-152277724, 152277730-152277946, 152277963-152277996, 152278013-152278128, 152278136-152278162, 152278169-152278452, 152278467-152278563, 152278579-152278618, 152278626-152278695, 152278711-152278720, 152278737-152278797, 152278803-152278933, 152278946-152278974, 152278992-152279042, 152279054-152279100, 152279106-152279133, 152279141-152279538, 152279545-152279584, 152279596-152279769, 152279778-152280232, 152280247-152280256, 152280265, 152280283-152280323, 152280343-152280381, 152280414-152280459, 152280470-152280497, 152280517-152280551, 152280563-152280570, 152280583-152280617, 152280626-152280657, 152280665-152280762, 152280777-152280787, 152280791, 152280812-152280835, 152280842-152280890, 152280897-152280939, 152280972-152280974, 152281017-152281061, 152281095-152281096, 152281110-152281153, 152281173-152281209, 152281215-152281371, 152281399-152281406, 152281416-152281449, 152281458-152281608, 152281621-152281649, 152281655-152281716, 152281722-152281810, 152281857, 152281868-152281869, 152281896-152281957, 152281965-152282038, 152282048-152282172, 152282208-152282373, 152282380-152282463, 152282476-152282498, 152282515-152282523, 152282527, 152282544-152282581, 152282593-152282845, 152282867-152282914, 152282928, 152282931, 152282934, 152282960-152283029, 152283038-152283151, 152283169-152283275, 152283288-152283294, 152283314-152283340, 152283354, 152283373-152283421, 152283430, 152283444-152283453, 152283464-152283516, 152283524-152283532, 152283562-152283664, 152283671, 152283674, 152283677, 152283683, 152283690-152283692, 152283696-152283698, 152283737-152283749, 152283779-152283933, 152283940-152284017, 152284026-152284054, 152284070-152284391, 152284402-152284428, 152284435-152284524, 152284534-152284607, 152284613-152284629, 152284646-152284725, 152284733-152284857, 152284885-152284886, 152284901-152284918, 152284924-152285061, 152285091-152285102, 152285114-152285233, 152285252, 152285259, 152285276-152285316, 152285325-152285326, 152285373-152285428, 152285437-152285457, 152285469-152285496, 152285534-152285612, 152285618-152285647, 152285661-152285662, 152285686, 152285690-152285692, 152285729-152285736, 152285744-152285781, 152285792-152285824, 152285833-152285838, 152285844, 152285877, 152285891-152285919, 152285930, 152285943-152285963, 152285969-152286021, 152286029-152286046, 152286068-152286193, 152286200-152286207, 152286241-152286267, 152286277-152286448, 152286476, 152286499-152286543, 152286573-152286634, 152286705, 152286710-152286719, 152286745-152286757, 152286813-152286839, 152286862-152286892, 152286956-152286968, 152286992, 152287004-152287010, 152287020-152287041, 152287074-152287096, 152287148-152287153, 152287166, 152287199-152287202, 152287213-152287219, 152287810-152287813, 152287870-152287888, 152287917-152287932 |
| 34 | GBA | 1 | 0.93734335839599 | 75 | 1197 | 155184223, 155184413-155184449, 155184874-155184894, 155186226, 155186652-155186658, 155187141-155187147, 155188182 |
| 35 | PKLR | 1 | 0.98202898550725 | 31 | 1725 | 155269977-155270007 |
| 36 | KCNJ10 | 1 | 0.99561403508772 | 5 | 1140 | 160012064-160012068 |
| 37 | SLC19A2 | 1 | 0.99933065595716 | 1 | 1494 | 169454832 |
| 38 | F5 | 1 | 0.99715355805243 | 19 | 6675 | 169489819-169489828, 169497184-169497185, 169497257, 169497331-169497332, 169510415-169510416, 169510524, 169510536 |
| 39 | FMO3 | 1 | 0.99937460913071 | 1 | 1599 | 171076966 |
| 40 | DARS2 | 1 | 0.99638802889577 | 7 | 1938 | 173794446-173794447, 173794457-173794460, 173795924 |
| 41 | NCF2 | 1 | 0.99936748893106 | 1 | 1581 | 183532591 |
| 42 | HMCN1 | 1 | 0.99893541518808 | 18 | 16908 | 185964179, 186056612-186056623, 186062790, 186064382-186064385 |
| 43 | CDC73 | 1 | 0.9749373433584 | 40 | 1596 | 193202283, 193205396-193205430, 193218890, 193218929, 193218984, 193218987 |
| 44 | CFH | 1 | 0.98782467532468 | 45 | 3696 | 196621283, 196648815, 196716353-196716395 |
| 45 | CFHR1 | 1 | 0.99798590130916 | 2 | 993 | 196801042, 196801078 |
| 46 | ASPM | 1 | 0.9989457542649 | 11 | 10434 | 197070776, 197115487-197115491, 197115495, 197115537-197115540 |
| 47 | CRB1 | 1 | 0.99976308931533 | 1 | 4221 | 197298003 |
| 48 | CD46 | 1 | 0.9925 | 9 | 1200 | 207930362-207930368, 207934671, 207934683 |
| 49 | USH2A | 1 | 0.99244025882504 | 118 | 15609 | 215802212-215802218, 215802261, 216420139-216420140, 216420153-216420161, 216420164, 216495317-216495318, 216496819, 216496841-216496870, 216496896-216496901, 216496907-216496908, 216496953-216496959, 216497625-216497632, 216497637, 216498710-216498713, 216498837, 216498892-216498907, 216595455-216595474 |
| 50 | ADCK3 | 1 | 0.98971193415638 | 20 | 1944 | 227149096-227149098, 227152713-227152721, 227152858, 227152901-227152907 |
| 51 | GJC2 | 1 | 0.86818181818182 | 174 | 1320 | 228345567-228345584, 228345631, 228345710-228345740, 228346053, 228346064-228346073, 228346099-228346117, 228346293-228346308, 228346354-228346398, 228346451-228346483 |
| 52 | LYST | 1 | 0.99263545502367 | 84 | 11406 | 235826271, 235826285-235826311, 235826367-235826373, 235827310-235827315, 235827319-235827322, 235827867-235827869, 235872485-235872496, 235875382, 235907279-235907280, 235907337, 235916457-235916461, 235972074-235972080, 235972432-235972438, 235972867 |
| 53 | ACTN2 | 1 | 0.99478584729981 | 14 | 2685 | 236850014-236850025, 236881271-236881272 |
| 54 | MTR | 1 | 0.99736703528173 | 10 | 3798 | 237013701, 237013731, 237013778-237013785 |
| 55 | RYR2 | 1 | 0.99771873322598 | 34 | 14904 | 237935347, 237936934-237936948, 237942037-237942044, 237942050-237942059 |
| 56 | FH | 1 | 0.99151989562948 | 13 | 1533 | 241672049-241672052, 241682901-241682907, 241682981, 241683001 |
| 57 | NET1 | 10 | 0.9715242881072 | 51 | 1791 | 5454665-5454694, 5454736-5454755, 5498551 |
| 58 | DCLRE1C | 10 | 0.996151996152 | 8 | 2079 | 14976411-14976417, 14981850 |
| 59 | CUBN | 10 | 0.99530905077263 | 51 | 10872 | 16893326-16893330, 16979661, 17032418-17032422, 17032442-17032481 |
| 60 | PTF1A | 10 | 0.99898682877406 | 1 | 987 | 23481907 |
| 61 | MYO3A | 10 | 0.99154813440528 | 41 | 4851 | 26241052-26241059, 26241081, 26241115, 26243870-26243871, 26243890, 26243893-26243897, 26243933, 26357748, 26359132-26359137, 26463033-26463047 |
| 62 | PDSS1 | 10 | 0.97836538461538 | 27 | 1248 | 27031434-27031453, 27031486-27031491, 27031494 |
| 63 | RET | 10 | 0.98774289985052 | 41 | 3345 | 43572728-43572768 |
| 64 | ERCC6 | 10 | 0.99107541276216 | 40 | 4482 | 50681033, 50740798-50740836 |
| 65 | PCDH15 | 10 | 0.9915095941586 | 50 | 5889 | 55663127-55663130, 55973696-55973697, 55973723-55973766 |
| 66 | EGR2 | 10 | 0.99930118798043 | 1 | 1431 | 64573061 |
| 67 | RPS24 | 10 | 0.99770114942529 | 2 | 870 | 79795444-79795445 |
| 68 | BMPR1A | 10 | 0.98061288305191 | 31 | 1599 | 88683143-88683149, 88683416-88683439 |
| 69 | GLUD1 | 10 | 0.98032200357782 | 33 | 1677 | 88854273-88854281, 88854420, 88854440-88854447, 88854453-88854461, 88854472-88854475, 88854505-88854506 |
| 70 | ANKRD1 | 10 | 0.975 | 24 | 960 | 92675597-92675620 |
| 71 | PDE6C | 10 | 0.99805975941017 | 5 | 2577 | 95400677-95400678, 95405720-95405722 |
| 72 | FBXW4 | 10 | 0.99757869249395 | 3 | 1239 | 103454358-103454360 |
| 73 | HPS6 | 10 | 0.98625429553265 | 32 | 2328 | 103825281-103825285, 103825385-103825393, 103825418, 103825443-103825446, 103825453, 103825488-103825489, 103825642, 103826040-103826046, 103826078-103826079 |
| 74 | SUFU | 10 | 0.99931271477663 | 1 | 1455 | 104264084 |
| 75 | HABP2 | 10 | 0.99584076054664 | 7 | 1683 | 115312914, 115341852-115341857 |
| 76 | EMX2 | 10 | 0.96442687747036 | 27 | 759 | 119302934-119302960 |
| 77 | BAG3 | 10 | 0.97743055555556 | 39 | 1728 | 121411281-121411287, 121411306-121411337 |
| 78 | ARMS2 | 10 | 0.99691358024691 | 1 | 324 | 124214355 |
| 79 | HTRA1 | 10 | 0.8988218988219 | 146 | 1443 | 124221194-124221207, 124221262-124221338, 124221364-124221391, 124221460-124221482, 124221526-124221528, 124221590 |
| 80 | TALDO1 | 11 | 0.90927021696252 | 92 | 1014 | 747482-747517, 747563, 763344-763354, 763377-763378, 763410-763414, 763437-763449, 763895-763905, 764351-764355, 764376-764383 |
| 81 | PNPLA2 | 11 | 0.97887788778878 | 32 | 1515 | 819719-819730, 819751-819764, 819861-819862, 819876, 824029-824031 |
| 82 | CTSD | 11 | 0.96771589991929 | 40 | 1239 | 1775039, 1775272-1775273, 1785034-1785068, 1785079-1785080 |
| 83 | TNNT3 | 11 | 0.998712998713 | 1 | 777 | 1959707 |
| 84 | IGF2 | 11 | 0.37693389592124 | 443 | 711 | 2154217-2154318, 2154326-2154445, 2154761-2154762, 2154767-2154788, 2154792, 2154800, 2154805, 2154809-2154811, 2154814-2154820, 2154841, 2154862-2154881, 2156610-2156627, 2156758-2156759, 2161373-2161398, 2161410-2161526 |
| 85 | TH | 11 | 0.99936507936508 | 1 | 1575 | 2190951 |
| 86 | KCNQ1 | 11 | 0.87543082225505 | 253 | 2031 | 2466329, 2466339-2466351, 2466372-2466418, 2466429-2466545, 2466588-2466622, 2466629-2466642, 2466645-2466654, 2466699-2466714 |
| 87 | CDKN1C | 11 | 0.91167192429022 | 84 | 951 | 2905932-2905937, 2905953, 2905959-2905960, 2906017-2906056, 2906091-2906096, 2906148-2906153, 2906165, 2906203-2906209, 2906326-2906334, 2906341, 2906450-2906454 |
| 88 | SMPD1 | 11 | 0.99367088607595 | 12 | 1896 | 6411931-6411942 |
| 89 | SBF2 | 11 | 0.99621621621622 | 21 | 5550 | 10315585-10315595, 10315607-10315616 |
| 90 | ABCC8 | 11 | 0.99957859249895 | 2 | 4746 | 17464785, 17498304 |
| 91 | FANCF | 11 | 0.99111111111111 | 10 | 1125 | 22646843-22646849, 22647250, 22647263-22647264 |
| 92 | WT1 | 11 | 0.9967824967825 | 5 | 1554 | 32456686, 32456852-32456855 |
| 93 | PDHX | 11 | 0.98804780876494 | 18 | 1506 | 34988333-34988336, 34991713-34991723, 35006233-35006235 |
| 94 | RAG2 | 11 | 0.91666666666667 | 132 | 1584 | 36614135-36614159, 36614190, 36614195-36614196, 36614206, 36614274-36614295, 36614332-36614357, 36614649-36614696, 36614909-36614911, 36614934, 36614942, 36615190, 36615709 |
| 95 | ALX4 | 11 | 0.99838187702265 | 2 | 1236 | 44296946, 44331309 |
| 96 | RAPSN | 11 | 0.99919289749798 | 1 | 1239 | 47470375 |
| 97 | SERPING1 | 11 | 0.99933466400532 | 1 | 1503 | 57365745 |
| 98 | TMEM216 | 11 | 0.99242424242424 | 2 | 264 | 61165338-61165339 |
| 99 | SLC22A12 | 11 | 0.78760529482551 | 353 | 1662 | 64359079-64359105, 64359143-64359163, 64359297-64359299, 64359314, 64359351-64359368, 64359397-64359398, 64360287-64360293, 64360310-64360337, 64360877-64360900, 64360919-64360940, 64361120, 64361175-64361204, 64361223-64361233, 64361270-64361271, 64366007-64366013, 64366044-64366086, 64367160-64367194, 64367212, 64367215, 64367236-64367300, 64367329, 64367334, 64367346, 64367351 |
| 100 | BBS1 | 11 | 0.99887766554433 | 2 | 1782 | 66281990, 66282095 |
| 101 | LRP5 | 11 | 0.97627887788779 | 115 | 4848 | 68080183-68080273, 68131256, 68207337, 68216406-68216427 |
| 102 | IGHMBP2 | 11 | 0.99966465459423 | 1 | 2982 | 68671470 |
| 103 | MYO7A | 11 | 0.9114019253911 | 589 | 6648 | 76883838-76883864, 76883887-76883894, 76883897-76883900, 76885802-76885838, 76885851, 76885862-76885899, 76885922-76885948, 76886444-76886445, 76886453-76886455, 76886461-76886476, 76888595-76888689, 76890091-76890132, 76890157-76890165, 76890170-76890175, 76890837-76890886, 76890897-76890970, 76890991-76890992, 76890998, 76891424-76891434, 76891483-76891490, 76892426-76892442, 76892453-76892461, 76892567-76892614, 76893030-76893038, 76893094-76893114, 76893122-76893136, 76893170, 76893490-76893497 |
| 104 | ALG8 | 11 | 0.97722960151803 | 36 | 1581 | 77832120-77832124, 77832157-77832170, 77835108-77835117, 77835201-77835206, 77835229 |
| 105 | MTMR2 | 11 | 0.99948240165631 | 1 | 1932 | 95621330 |
| 106 | TRPC6 | 11 | 0.98962804005722 | 29 | 2796 | 101362317-101362324, 101362394-101362401, 101375519-101375524, 101454065-101454067, 101454121-101454124 |
| 107 | DYNC2H1 | 11 | 0.9981460023175 | 24 | 12945 | 103074467-103074481, 103075692, 103106405-103106411, 103106441 |
| 108 | ATM | 11 | 0.99934576382074 | 6 | 9171 | 108201044, 108205736, 108213991-108213993, 108218063 |
| 109 | CRYAB | 11 | 0.875 | 66 | 528 | 111779491-111779499, 111779504-111779510, 111779522-111779534, 111779588-111779617, 111782371-111782377 |
| 110 | DLAT | 11 | 0.99845679012346 | 3 | 1944 | 111930627, 111930749-111930750 |
| 111 | TECTA | 11 | 0.95746326372776 | 275 | 6465 | 120989015-120989036, 120989103-120989112, 120989171-120989204, 120989305-120989306, 120989330-120989346, 121016272, 121016284-121016288, 121016375-121016395, 121016440, 121016454-121016458, 121016476-121016505, 121016532, 121016535, 121016561, 121016703-121016705, 121016716, 121016719, 121016723-121016730, 121016747-121016757, 121016804-121016825, 121032809, 121035982-121035983, 121037287-121037310, 121038834-121038860, 121039474-121039482, 121039485, 121039554-121039566, 121058657 |
| 112 | WNK1 | 12 | 0.99076793957197 | 66 | 7149 | 862846-862876, 862989, 863204-863209, 863230-863257 |
| 113 | CACNA1C | 12 | 0.99908550525834 | 6 | 6561 | 2774018-2774020, 2797710, 2800350-2800351 |
| 114 | VWF | 12 | 0.98412698412698 | 134 | 8442 | 6059022, 6103133-6103139, 6105377, 6105387, 6125816, 6127532-6127538, 6127655-6127661, 6128064-6128105, 6128300, 6131926-6131932, 6131955-6131982, 6132003-6132033 |
| 115 | GYS2 | 12 | 0.87878787878788 | 256 | 2112 | 21690001, 21690004-21690013, 21711158-21711175, 21711188-21711235, 21712025-21712064, 21712601-21712631, 21713320, 21715860, 21715864, 21715891-21715904, 21715907, 21715959-21715972, 21716162-21716179, 21716218-21716220, 21716241, 21716244-21716266, 21721840-21721841, 21721915-21721943 |
| 116 | ABCC9 | 12 | 0.98516129032258 | 69 | 4650 | 21968698-21968700, 21970147, 22005113, 22005423-22005428, 22025630-22025653, 22028589, 22035732, 22035736, 22035751-22035752, 22065838-22065841, 22068603, 22068606, 22068639-22068640, 22068643, 22068668, 22068671-22068675, 22068704-22068716, 22068757 |
| 117 | KRAS | 12 | 0.97894736842105 | 12 | 570 | 25380279-25380289, 25380343 |
| 118 | FGD4 | 12 | 0.99652325076054 | 8 | 2301 | 32754284-32754290, 32763725 |
| 119 | DNM1L | 12 | 0.98869289914066 | 25 | 2211 | 32854469-32854476, 32875490, 32875510-32875520, 32875523, 32875527-32875528, 32884335, 32893426 |
| 120 | PKP2 | 12 | 0.98170246618934 | 46 | 2514 | 32955372-32955410, 32955464-32955466, 33049535, 33049555, 33049558, 33049625 |
| 121 | KIF21A | 12 | 0.99919775371039 | 4 | 4986 | 39713784, 39836740-39836741, 39836772 |
| 122 | LRRK2 | 12 | 0.96347573839662 | 277 | 7584 | 40687357-40687364, 40687367-40687380, 40687464, 40688716, 40689267, 40689280-40689292, 40689338, 40692100-40692113, 40692191, 40692222, 40692911-40692922, 40692934, 40693031, 40745433-40745450, 40745493, 40753095-40753098, 40753198-40753199, 40757228-40757267, 40757340, 40758712, 40758751, 40758755, 40758813-40758831, 40760808-40760838, 40760856-40760874, 40761446-40761493, 40761527-40761548 |
| 123 | TUBA1A | 12 | 0.92982456140351 | 32 | 456 | 49522235-49522266 |
| 124 | KRT81 | 12 | 0.93873517786561 | 93 | 1518 | 52681437, 52684020-52684060, 52684899-52684905, 52685156-52685199 |
| 125 | KRT86 | 12 | 0.96098562628337 | 57 | 1461 | 52695754, 52695787, 52696045-52696051, 52696894-52696934, 52699545-52699551 |
| 126 | KRT6B | 12 | 0.9811209439528 | 32 | 1695 | 52844380-52844404, 52845754-52845760 |
| 127 | KRT1 | 12 | 0.99431524547804 | 11 | 1935 | 53069235, 53069241-53069243, 53069298-53069304 |
| 128 | KIF5A | 12 | 0.99161019683769 | 26 | 3099 | 57958708-57958732, 57960930 |
| 129 | LEMD3 | 12 | 0.95979532163743 | 110 | 2736 | 65563396-65563404, 65563411-65563413, 65563417, 65563516, 65563527, 65563599, 65563608, 65563615-65563635, 65563639-65563642, 65563656, 65563709-65563712, 65563740-65563771, 65563783, 65563803-65563804, 65563863-65563870, 65563895, 65563911-65563912, 65563915-65563919, 65564192-65564195, 65564271-65564272, 65564335, 65564493, 65564634, 65564848-65564850 |
| 130 | CEP290 | 12 | 0.98924731182796 | 80 | 7440 | 88457795-88457802, 88462381-88462384, 88472939-88472959, 88481636-88481646, 88483149-88483152, 88483193, 88484611-88484616, 88486536-88486550, 88486593-88486600, 88487634, 88505504 |
| 131 | HAL | 12 | 0.92806484295846 | 142 | 1974 | 96368124-96368127, 96368130, 96370392-96370438, 96371788-96371789, 96371800-96371820, 96374441, 96374487-96374489, 96377765, 96379844, 96380876-96380883, 96380914-96380915, 96380918-96380930, 96389494-96389503, 96389643-96389670 |
| 132 | TMPO | 12 | 0.99232613908873 | 16 | 2085 | 98921668-98921683 |
| 133 | SLC25A3 | 12 | 0.96051423324151 | 43 | 1089 | 98989211-98989230, 98991669-98991674, 98991689, 98992301-98992312, 98995007-98995010 |
| 134 | SLC17A8 | 12 | 0.99491525423729 | 9 | 1770 | 100797828-100797836 |
| 135 | GNPTAB | 12 | 0.98621055422965 | 52 | 3771 | 102224337, 102224357, 102224396-102224445 |
| 136 | ATXN2 | 12 | 0.82724505327245 | 681 | 3942 | 111957684, 111957734, 111957870, 111957873, 112036588-112037120, 112037128-112037173, 112037179-112037266, 112037280, 112037296, 112037311-112037318 |
| 137 | HNF1A | 12 | 0.88027426160338 | 227 | 1896 | 121416572-121416639, 121416864, 121416872-121416891, 121432114-121432130, 121434074-121434101, 121434194-121434204, 121434352-121434365, 121434450-121434501, 121435389-121435400, 121437382, 121438952, 121438956, 121438969 |
| 138 | EIF2B1 | 12 | 0.99782135076253 | 2 | 918 | 124106327-124106328 |
| 139 | PUS1 | 12 | 0.94781931464174 | 67 | 1284 | 132414513-132414525, 132425969-132425993, 132426005-132426026, 132426079, 132426113, 132426322-132426323, 132426432, 132426436, 132426517 |
| 140 | SACS | 13 | 0.99927219796215 | 10 | 13740 | 23949311-23949320 |
| 141 | BRCA2 | 13 | 0.99990250560593 | 1 | 10257 | 32913559 |
| 142 | FREM2 | 13 | 0.99821240799159 | 17 | 9510 | 39261567-39261568, 39261915-39261922, 39262005-39262007, 39262403-39262406 |
| 143 | RB1 | 13 | 0.9978471474704 | 6 | 2787 | 48878115-48878117, 49039160, 49039179, 49039373 |
| 144 | ATP7B | 13 | 0.99954524783993 | 2 | 4398 | 52548751-52548752 |
| 145 | EDNRB | 13 | 0.99924755455229 | 1 | 1329 | 78477358 |
| 146 | GPC6 | 13 | 0.99940047961631 | 1 | 1668 | 94680026 |
| 147 | ZIC2 | 13 | 0.92933083176986 | 113 | 1599 | 100634390-100634420, 100634473-100634475, 100634510-100634512, 100634526, 100634560, 100637665, 100637681-100637694, 100637754-100637759, 100637768-100637769, 100637772-100637775, 100637779-100637780, 100637786-100637793, 100637829-100637865 |
| 148 | PCCA | 13 | 0.99954275262917 | 1 | 2187 | 100982922 |
| 149 | ERCC5 | 13 | 0.99834866713848 | 7 | 4239 | 103468840-103468846 |
| 150 | COL4A1 | 13 | 0.9936127744511 | 32 | 5010 | 110959304-110959317, 110959329-110959345, 110959356 |
| 151 | F7 | 13 | 0.79700374531835 | 271 | 1335 | 113760156-113760219, 113765004-113765022, 113765037-113765038, 113765045, 113765054-113765164, 113769974-113769977, 113769986-113770048, 113770052, 113770065, 113770070-113770074 |
| 152 | F10 | 13 | 0.99931833674165 | 1 | 1467 | 113801737 |
| 153 | GRK1 | 13 | 0.99172576832151 | 14 | 1692 | 114322045-114322057, 114322289 |
| 154 | TEP1 | 14 | 0.99898528665652 | 8 | 7884 | 20876282, 20876369-20876375 |
| 155 | RPGRIP1 | 14 | 0.98290598290598 | 66 | 3861 | 21769159-21769160, 21769163-21769167, 21769335-21769384, 21819309-21819317 |
| 156 | PABPN1 | 14 | 0.89793702497286 | 94 | 921 | 23790681-23790683, 23790695, 23790704, 23790730-23790756, 23790785-23790791, 23790841, 23790845, 23790851, 23790915-23790959, 23791019-23791025 |
| 157 | FOXG1 | 14 | 0.74965986394558 | 368 | 1470 | 29236486-29236498, 29236508-29236536, 29236568-29236607, 29236626, 29236647-29236649, 29236670-29236675, 29236686-29236742, 29236748-29236963, 29237094, 29237136, 29237534 |
| 158 | COCH | 14 | 0.99516031457955 | 8 | 1653 | 31344278-31344285 |
| 159 | FANCM | 14 | 0.93785586464942 | 382 | 6147 | 45605239-45605247, 45605280-45605312, 45605335-45605406, 45605416-45605425, 45605428-45605432, 45605459-45605491, 45605526-45605539, 45605618-45605627, 45605635-45605714, 45606281-45606285, 45606297-45606314, 45606317-45606322, 45606338-45606394, 45606404, 45606416-45606417, 45606420-45606427, 45645186, 45650633, 45650674, 45650711, 45650715, 45652977-45652985, 45653080, 45654476, 45654481, 45654490, 45654574 |
| 160 | C14orf104 | 14 | 0.99761336515513 | 6 | 2514 | 50100983-50100988 |
| 161 | ATL1 | 14 | 0.99939831528279 | 1 | 1662 | 51062322 |
| 162 | GCH1 | 14 | 0.97875166002656 | 16 | 753 | 55312547-55312557, 55369132-55369136 |
| 163 | SYNE2 | 14 | 0.98948079521328 | 218 | 20724 | 64497850-64497854, 64497930, 64498037, 64514741, 64514778, 64516511, 64516515, 64516558-64516560, 64518275-64518315, 64518481, 64518494-64518495, 64518498-64518500, 64518532-64518569, 64518582-64518615, 64518836-64518839, 64518963-64518964, 64518967-64518974, 64519118, 64519128-64519129, 64519190, 64519201, 64519210-64519227, 64519428-64519429, 64519582, 64519634, 64519798, 64519801, 64519922-64519927, 64519936-64519945, 64520014-64520030, 64520284-64520291, 64520359 |
| 164 | POMT2 | 14 | 0.99955614735908 | 1 | 2253 | 77767504 |
| 165 | GALC | 14 | 0.94703595724004 | 109 | 2058 | 88434827, 88448552, 88450741-88450747, 88459355-88459378, 88459406-88459450, 88459478-88459508 |
| 166 | ATXN3 | 14 | 0.99907918968692 | 1 | 1086 | 92547386 |
| 167 | VRK1 | 14 | 0.98656591099916 | 16 | 1191 | 97304103-97304118 |
| 168 | AMN | 14 | 0.90602055800294 | 128 | 1362 | 103389052, 103395159-103395160, 103395163, 103396023, 103396277, 103396385-103396387, 103396506, 103396516-103396545, 103396569-103396655, 103396743 |
| 169 | INF2 | 14 | 0.9344 | 246 | 3750 | 105173773-105173790, 105173863-105173874, 105173909-105174124 |
| 170 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 171 | SNRPN | 15 | 0.99170124481328 | 6 | 723 | 25222955-25222960 |
| 172 | TRPM1 | 15 | 0.99334995843724 | 32 | 4812 | 31334395-31334426 |
| 173 | CHST14 | 15 | 0.99646330680813 | 4 | 1131 | 40763517, 40763527-40763529 |
| 174 | TTBK2 | 15 | 0.99973226238286 | 1 | 3735 | 43132580 |
| 175 | STRC | 15 | 0.99530780780781 | 25 | 5328 | 43896306-43896312, 43897499, 43907888-43907894, 43910437-43910443, 43910867-43910869 |
| 176 | STRC | 15 | 0.99641025641026 | 7 | 1950 | 44007350-44007356 |
| 177 | SPG11 | 15 | 0.9854064375341 | 107 | 7332 | 44855493, 44858460-44858471, 44859629, 44859633-44859653, 44859665, 44859672, 44859682-44859696, 44859726-44859732, 44859735-44859741, 44859744-44859745, 44859759-44859760, 44859766-44859767, 44861635, 44864897-44864912, 44864970, 44864974-44864975, 44865760, 44865777-44865781, 44865789-44865790, 44865795, 44867133, 44876015, 44876570, 44877853, 44877920, 44889019 |
| 178 | SLC12A1 | 15 | 0.99848484848485 | 5 | 3300 | 48527189-48527192, 48580281 |
| 179 | CEP152 | 15 | 0.9987915407855 | 6 | 4965 | 49048576, 49085526, 49088226-49088228, 49090181 |
| 180 | SPG21 | 15 | 0.96008629989213 | 37 | 927 | 65262503-65262505, 65268879-65268893, 65273325-65273327, 65275845-65275848, 65275880-65275891 |
| 181 | HEXA | 15 | 0.99874213836478 | 2 | 1590 | 72668122-72668123 |
| 182 | BBS4 | 15 | 0.99935897435897 | 1 | 1560 | 73027478 |
| 183 | HCN4 | 15 | 0.99197120708749 | 29 | 3612 | 73660224-73660230, 73660279, 73660339-73660345, 73660505, 73660553-73660565 |
| 184 | PSTPIP1 | 15 | 0.68665067945643 | 392 | 1251 | 77322906, 77324639-77324650, 77324660, 77324678-77324679, 77324688-77324701, 77324721-77324727, 77325221-77325226, 77325250-77325275, 77325286, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 185 | RPS17 | 15 | 0.93382352941176 | 27 | 408 | 82823387-82823393, 82824421-82824440 |
| 186 | RPS17 | 15 | 0.93382352941176 | 27 | 408 | 83207730-83207736, 83208764-83208783 |
| 187 | FANCI | 15 | 0.99849510910459 | 6 | 3987 | 89816670-89816674, 89816677 |
| 188 | POLG | 15 | 0.99865591397849 | 5 | 3720 | 89864042, 89865980, 89876828-89876830 |
| 189 | MESP2 | 15 | 0.9857621440536 | 17 | 1194 | 90319803-90319809, 90320119, 90320146, 90320161, 90320170-90320176 |
| 190 | BLM | 15 | 0.99929478138223 | 3 | 4254 | 91337586-91337587, 91347480 |
| 191 | VPS33B | 15 | 0.99946062567422 | 1 | 1854 | 91542254 |
| 192 | HBZ | 16 | 0.36363636363636 | 273 | 429 | 202961-202978, 202983-202985, 203891-204095, 204271-204272, 204287-204316, 204329-204332, 204388-204398 |
| 193 | HBM | 16 | 0.97417840375587 | 11 | 426 | 216020, 216286, 216329-216331, 216336-216338, 216343-216344, 216359 |
| 194 | HBA2 | 16 | 0.8951048951049 | 45 | 429 | 222917-222955, 222972, 222982, 222986, 222990, 222994, 222997 |
| 195 | GNPTG | 16 | 0.98474945533769 | 14 | 918 | 1411789-1411797, 1412046, 1412216-1412219 |
| 196 | CLCN7 | 16 | 0.99751861042184 | 6 | 2418 | 1497407, 1524876-1524880 |
| 197 | IGFALS | 16 | 0.99171842650104 | 16 | 1932 | 1841284-1841298, 1841309 |
| 198 | PKD1 | 16 | 0.48179987608426 | 6691 | 12912 | 2139837-2139846, 2139909-2139927, 2140402-2140408, 2140572-2140576, 2140581, 2140908, 2140922-2140945, 2140970-2141019, 2141054-2141076, 2141095-2141100, 2141129-2141175, 2141502-2141507, 2141541-2141543, 2141563-2141565, 2143054, 2147149-2147150, 2147195-2147202, 2147228-2147232, 2147344-2147374, 2147400-2147420, 2147869-2147891, 2147909, 2147917-2147952, 2147968-2147969, 2147976, 2147980-2147985, 2149645-2149669, 2149683-2149771, 2149862-2149921, 2149927-2150063, 2150167-2150184, 2150192-2150266, 2150280-2150310, 2150397-2150532, 2150540-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152846, 2152862-2152925, 2152948-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2155975, 2155995-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156912, 2156919-2156949, 2157884-2158033, 2158253-2158259, 2158285-2158325, 2158358-2158434, 2158456-2158470, 2158494-2158554, 2158562-2158640, 2158658-2158700, 2158711-2158857, 2158872-2158952, 2158977-2159005, 2159019-2159021, 2159025-2159027, 2159042-2159063, 2159069-2159071, 2159084-2159350, 2159383-2159646, 2159664-2159716, 2159727, 2159739-2159805, 2159816-2159851, 2159895-2159967, 2159979, 2159987-2159998, 2160021-2160091, 2160098-2160128, 2160138-2160155, 2160199-2160200, 2160221-2160364, 2160409-2160413, 2160462-2160475, 2160485-2160637, 2160690-2160729, 2160745-2160776, 2160793-2160810, 2160834-2160888, 2160911-2160930, 2160984-2161032, 2161073-2161112, 2161132-2161170, 2161187-2161188, 2161223-2161229, 2161287-2161292, 2161308, 2161321-2161381, 2161411-2161416, 2161451-2161470, 2161494-2161514, 2161560-2161593, 2161640-2161653, 2161669-2161670, 2161736-2161864, 2162341-2162354, 2162374-2162400, 2162429, 2162790-2162819, 2162949-2162962, 2163163-2163180, 2163231-2163285, 2164199-2164207, 2164313, 2164371-2164378, 2164416-2164460, 2164494-2164506, 2164510, 2164526-2164529, 2164545, 2164558-2164561, 2164633-2164634, 2164694-2164706, 2164742-2164758, 2164762, 2164792-2164837, 2164890-2164913, 2165395-2165401, 2165478-2165481, 2165544, 2165993-2165996, 2166003, 2166579, 2166617-2166618, 2166875, 2166881-2166885, 2166891, 2166901, 2166910-2166913, 2166976-2166982, 2167595, 2167792-2167856, 2167871-2167877, 2167922-2167928, 2167948-2167975, 2167993-2167995, 2168010-2168012, 2168030-2168049, 2168086, 2168096, 2168103, 2168106-2168107, 2168113, 2168156-2168161, 2168185-2168217, 2168319-2168426, 2168787, 2169124-2169140, 2169365-2169379, 2185476-2185550, 2185562-2185690 |
| 199 | ABCA3 | 16 | 0.99863147605083 | 7 | 5115 | 2369771-2369777 |
| 200 | MEFV | 16 | 0.99658994032396 | 8 | 2346 | 3306339-3306346 |
| 201 | CREBBP | 16 | 0.90790012279984 | 675 | 7329 | 3777746-3777773, 3777803-3777807, 3777810-3777826, 3777849-3777856, 3777868, 3777897, 3777940, 3777976, 3777984, 3778034, 3778042, 3778067-3778070, 3778111, 3778114-3778115, 3778119-3778121, 3778124-3778168, 3778173, 3778235, 3778240-3778241, 3778281-3778288, 3778299, 3778303-3778305, 3778308-3778320, 3778347-3778359, 3778413-3778418, 3778441-3778477, 3778559-3778657, 3778671-3778676, 3778679-3778684, 3778713-3778729, 3778761, 3778767, 3778788-3778809, 3778839-3778879, 3778886-3778890, 3778902-3778992, 3779007-3779056, 3779072, 3779081-3779093, 3779109-3779121, 3779158-3779165, 3779170-3779177, 3779193, 3779200, 3779205-3779210, 3779221, 3779265, 3779268-3779269, 3779281, 3779324, 3779357-3779361, 3779397-3779416, 3779469-3779496, 3779551, 3779568-3779569, 3779630, 3779633-3779641, 3779689, 3781420, 3823784, 3929852-3929855, 3929906 |
| 202 | ALG1 | 16 | 0.84802867383513 | 212 | 1395 | 5128814-5128820, 5128826-5128879, 5130993-5131008, 5131015-5131056, 5132636, 5133738-5133758, 5134812-5134882 |
| 203 | ABCC6 | 16 | 0.99734042553191 | 12 | 4512 | 16269768-16269770, 16269780-16269783, 16271427-16271431 |
| 204 | UMOD | 16 | 0.99687987519501 | 6 | 1923 | 20359872-20359877 |
| 205 | COG7 | 16 | 0.97708603545179 | 53 | 2313 | 23403716, 23403749, 23403804, 23404606-23404637, 23417455, 23417464-23417480 |
| 206 | TUFM | 16 | 0.98318713450292 | 23 | 1368 | 28857326-28857337, 28857370-28857372, 28857567-28857574 |
| 207 | ATP2A1 | 16 | 0.979374584165 | 62 | 3006 | 28895909-28895952, 28900271-28900272, 28913636-28913651 |
| 208 | CD19 | 16 | 0.99102333931777 | 15 | 1671 | 28948355-28948356, 28948431, 28949125-28949132, 28950052-28950054, 28950240 |
| 209 | FUS | 16 | 0.98165717900063 | 29 | 1581 | 31195689-31195717 |
| 210 | SALL1 | 16 | 0.99924528301887 | 3 | 3975 | 51175656-51175658 |
| 211 | TK2 | 16 | 0.98809523809524 | 11 | 924 | 66583892-66583902 |
| 212 | HSD11B2 | 16 | 0.95073891625616 | 60 | 1218 | 67465153-67465180, 67465190-67465193, 67465201, 67465250-67465276 |
| 213 | CDH3 | 16 | 0.9863453815261 | 34 | 2490 | 68725677-68725683, 68725713-68725719, 68725783-68725799, 68725827-68725829 |
| 214 | CDH1 | 16 | 0.99886749716874 | 3 | 2649 | 68845605, 68857415, 68857441 |
| 215 | CIRH1A | 16 | 0.94856865599224 | 106 | 2061 | 69167437-69167454, 69167490-69167496, 69167508-69167509, 69170630-69170643, 69173773-69173791, 69173815-69173817, 69177141-69177145, 69177159, 69177171-69177201, 69177268, 69177288-69177292 |
| 216 | COG8 | 16 | 0.98803697661773 | 22 | 1839 | 69364772-69364790, 69364835-69364837 |
| 217 | TAT | 16 | 0.9992673992674 | 1 | 1365 | 71606563 |
| 218 | HP | 16 | 0.88288288288288 | 143 | 1221 | 72092154-72092215, 72092221-72092254, 72093017, 72093029-72093030, 72093033, 72094570-72094612 |
| 219 | GAN | 16 | 0.99386845039019 | 11 | 1794 | 81348857-81348867 |
| 220 | MLYCD | 16 | 0.97031039136302 | 44 | 1482 | 83932882-83932885, 83932987-83932990, 83932997-83933003, 83933015, 83933084-83933098, 83933102-83933114 |
| 221 | FOXF1 | 16 | 0.99736842105263 | 3 | 1140 | 86544211-86544213 |
| 222 | JPH3 | 16 | 0.9942145082332 | 13 | 2247 | 87636826-87636832, 87637129-87637134 |
| 223 | CYBA | 16 | 0.8843537414966 | 68 | 588 | 88709768-88709772, 88709778-88709788, 88709816-88709820, 88709828, 88709852-88709867, 88713236, 88717364-88717372, 88717402-88717421 |
| 224 | GALNS | 16 | 0.98916507329509 | 17 | 1569 | 88884454, 88891255-88891261, 88923171-88923175, 88923201-88923204 |
| 225 | SPG7 | 16 | 0.99706867671692 | 7 | 2388 | 89574832, 89574848, 89574890, 89623471-89623474 |
| 226 | TUBB3 | 16 | 0.99926090169993 | 1 | 1353 | 89989862 |
| 227 | PAFAH1B1 | 17 | 0.99918896999189 | 1 | 1233 | 2570468 |
| 228 | CTNS | 17 | 0.92019950124688 | 96 | 1203 | 3559781-3559808, 3559827-3559845, 3559990-3560015, 3560048-3560061, 3560070, 3560073, 3560083, 3560086, 3561305, 3563253-3563256 |
| 229 | GP1BA | 17 | 0.98385416666667 | 31 | 1920 | 4836002-4836004, 4836012-4836017, 4836217, 4837153, 4837242, 4837409-4837415, 4837568-4837569, 4837741-4837746, 4837750-4837753 |
| 230 | PITPNM3 | 17 | 0.87965811965812 | 352 | 2925 | 6358658-6358848, 6358861-6358963, 6360925-6360945, 6360953, 6364794, 6367059-6367061, 6367612, 6367622, 6368023, 6374537-6374538, 6374552, 6381322-6381324, 6381329, 6459705-6459726 |
| 231 | CHRNB1 | 17 | 0.99667994687915 | 5 | 1506 | 7358606-7358609, 7360030 |
| 232 | TP53 | 17 | 0.99915397631134 | 1 | 1182 | 7578227 |
| 233 | GUCY2D | 17 | 0.95984299516908 | 133 | 3312 | 7906376-7906383, 7906433-7906446, 7906516-7906519, 7906564-7906602, 7906638-7906640, 7906650-7906660, 7906663, 7906737-7906753, 7906778-7906781, 7906910-7906940, 7907189 |
| 234 | HES7 | 17 | 0.92625368731563 | 50 | 678 | 8024955-8025003, 8025009 |
| 235 | MYH3 | 17 | 0.9926154902971 | 43 | 5823 | 10538816-10538838, 10541497, 10543390-10543392, 10554855, 10555832-10555846 |
| 236 | COX10 | 17 | 0.98273273273273 | 23 | 1332 | 14110454-14110476 |
| 237 | RAI1 | 17 | 0.9993008215347 | 4 | 5721 | 17697099-17697102 |
| 238 | ATPAF2 | 17 | 0.82758620689655 | 150 | 870 | 17924461-17924478, 17924520-17924538, 17925091-17925113, 17925135-17925167, 17928013, 17929633-17929662, 17929679-17929683, 17931586, 17931590-17931599, 17931622-17931623, 17931629, 17931948-17931952, 17931972-17931973 |
| 239 | MYO15A | 17 | 0.99867837251015 | 14 | 10593 | 18024406-18024412, 18024466, 18024480-18024485 |
| 240 | UNC119 | 17 | 0.99723374827109 | 2 | 723 | 26879450, 26879453 |
| 241 | SLC6A4 | 17 | 0.99947173798204 | 1 | 1893 | 28543234 |
| 242 | NF1 | 17 | 0.97335680751174 | 227 | 8520 | 29422328-29422333, 29422337-29422359, 29422377-29422387, 29483069, 29490342, 29496954, 29546115-29546136, 29554309, 29562988, 29563005, 29652863, 29653032, 29653036-29653039, 29653042-29653050, 29653056-29653058, 29653062-29653064, 29653067, 29653137-29653143, 29653146-29653155, 29653168, 29654517-29654527, 29654707-29654711, 29654827-29654831, 29657332, 29661997, 29663351-29663378, 29663421-29663442, 29663654-29663684, 29663923, 29664514-29664518, 29664529, 29664861, 29665085, 29667644-29667645, 29667649-29667652 |
| 243 | PEX12 | 17 | 0.9962962962963 | 4 | 1080 | 33903182, 33904400-33904402 |
| 244 | HNF1B | 17 | 0.99581839904421 | 7 | 1674 | 36104818-36104824 |
| 245 | KRT10 | 17 | 0.99316239316239 | 12 | 1755 | 38975242-38975249, 38975284, 38975328, 38978462, 38978536 |
| 246 | KRT14 | 17 | 0.8830162085976 | 166 | 1419 | 39738757-39738763, 39739487-39739515, 39739554, 39741307, 39742757-39742763, 39742787, 39742799, 39742807, 39742826-39742872, 39742940-39742957, 39742985-39743037 |
| 247 | KRT16 | 17 | 0.94444444444444 | 79 | 1422 | 39766195, 39766222, 39766268, 39767106-39767133, 39768490-39768496, 39768706-39768746 |
| 248 | KRT17 | 17 | 0.99923017705928 | 1 | 1299 | 39780761 |
| 249 | JUP | 17 | 0.99955317247542 | 1 | 2238 | 39919246 |
| 250 | NAGLU | 17 | 0.99955197132616 | 1 | 2232 | 40688420 |
| 251 | BRCA1 | 17 | 0.99823165340407 | 10 | 5655 | 41219703, 41219708-41219712, 41223067-41223069, 41226515 |
| 252 | PLEKHM1 | 17 | 0.99590034689372 | 13 | 3171 | 43531173, 43531203, 43531297, 43531484, 43531587, 43535558, 43545750-43545756 |
| 253 | WNT3 | 17 | 0.98408239700375 | 17 | 1068 | 44845808-44845816, 44851034, 44851042-44851046, 44851087, 44851093 |
| 254 | COL1A1 | 17 | 0.99226393629124 | 34 | 4395 | 48276608-48276641 |
| 255 | TRIM37 | 17 | 0.99481865284974 | 15 | 2895 | 57060281, 57105869, 57105924-57105927, 57109322, 57119245, 57134353, 57134368-57134369, 57134414-57134415, 57168667-57168668 |
| 256 | AP1S2 | 17 | 0.99839743589744 | 1 | 624 | 58180079 |
| 257 | BRIP1 | 17 | 0.99786666666667 | 8 | 3750 | 59763203-59763209, 59763511 |
| 258 | ACE | 17 | 0.9716908951798 | 111 | 3921 | 61554456-61554457, 61554471-61554532, 61554551-61554584, 61554649-61554656, 61554662, 61574563-61574564, 61574569, 61574588 |
| 259 | AXIN2 | 17 | 0.99407582938389 | 15 | 2532 | 63532581-63532595 |
| 260 | SOX9 | 17 | 0.97320261437908 | 41 | 1530 | 70117540-70117561, 70119831-70119832, 70120016-70120028, 70120148, 70120161, 70120527-70120528 |
| 261 | COG1 | 17 | 0.99218484539585 | 23 | 2943 | 71189301-71189311, 71189372-71189380, 71189448-71189450 |
| 262 | TSEN54 | 17 | 0.95256166982922 | 75 | 1581 | 73512650-73512654, 73512849-73512853, 73512880, 73512884-73512903, 73512923-73512945, 73512982, 73513122-73513138, 73517971, 73518379, 73518385 |
| 263 | UNC13D | 17 | 0.99938893981057 | 2 | 3273 | 73826120, 73827205 |
| 264 | ACOX1 | 17 | 0.99193141704488 | 16 | 1983 | 73947558-73947573 |
| 265 | SEPT9 | 17 | 0.94151050539466 | 103 | 1761 | 75478292, 75483571, 75484907, 75484912-75484913, 75484916-75484927, 75494605-75494625, 75494631-75494634, 75494653-75494682, 75494693-75494723 |
| 266 | GAA | 17 | 0.86673662119622 | 381 | 2859 | 78078444-78078451, 78078525-78078532, 78078704-78078718, 78078747-78078753, 78078809-78078815, 78078887-78078923, 78079597, 78081474, 78081481-78081485, 78081489, 78081492, 78081635-78081641, 78082133-78082134, 78082288-78082303, 78082496-78082533, 78082599-78082600, 78083744-78083773, 78083795-78083839, 78084553-78084554, 78084597-78084601, 78086377-78086388, 78086444-78086471, 78086508, 78086712-78086726, 78086774-78086786, 78087120-78087128, 78090813-78090815, 78091423-78091426, 78091457-78091469, 78091490-78091502, 78092063-78092065, 78092149-78092156, 78092460-78092480 |
| 267 | SGSH | 17 | 0.99933730947647 | 1 | 1509 | 78190874 |
| 268 | ACTG1 | 17 | 0.99645390070922 | 4 | 1128 | 79478299-79478302 |
| 269 | FSCN2 | 17 | 0.65382014874915 | 512 | 1479 | 79495558-79495590, 79495627-79495671, 79495713-79495719, 79495729-79495835, 79495849-79495852, 79495861-79495959, 79495972-79496020, 79496026-79496033, 79496056-79496075, 79496089-79496092, 79496116, 79496142-79496176, 79496278-79496286, 79496322-79496328, 79496351-79496383, 79503717-79503725, 79503768-79503771, 79503905, 79503932-79503936, 79504014-79504033, 79504083-79504094 |
| 270 | AFG3L2 | 18 | 0.98830409356725 | 28 | 2394 | 12329612-12329616, 12377021-12377043 |
| 271 | NPC1 | 18 | 0.98384154287204 | 62 | 3837 | 21124924-21124948, 21152143, 21166269-21166304 |
| 272 | LAMA3 | 18 | 0.98620275944811 | 138 | 10002 | 21269648-21269769, 21269776, 21269825, 21269903-21269916 |
| 273 | DSC3 | 18 | 0.99851356373096 | 4 | 2691 | 28622599-28622602 |
| 274 | LOXHD1 | 18 | 0.999547920434 | 3 | 6636 | 44126923, 44126967, 44174379 |
| 275 | SMAD4 | 18 | 0.99095840867993 | 15 | 1659 | 48573560-48573573, 48581276 |
| 276 | ATP8B1 | 18 | 0.99866879659212 | 5 | 3756 | 55373722-55373725, 55398961 |
| 277 | LMAN1 | 18 | 0.92889758643183 | 109 | 1533 | 57000327-57000328, 57000416-57000436, 57000469, 57021786-57021790, 57026263-57026304, 57026323-57026335, 57026366-57026371, 57026411-57026425, 57026453, 57026474-57026476 |
| 278 | CCBE1 | 18 | 0.92956592956593 | 86 | 1221 | 57115335, 57133981, 57134018-57134023, 57134049-57134064, 57134078-57134081, 57134085-57134111, 57136740-57136770 |
| 279 | MC4R | 18 | 0.998998998999 | 1 | 999 | 58038795 |
| 280 | TNFRSF11A | 18 | 0.96650459211237 | 62 | 1851 | 59992587-59992639, 60035961-60035962, 60036009, 60036611-60036616 |
| 281 | CTDP1 | 18 | 0.96985446985447 | 87 | 2886 | 77439948-77439951, 77439962, 77439968, 77439981-77439985, 77440035-77440041, 77440076-77440100, 77440153-77440156, 77440226-77440235, 77456018-77456019, 77456022-77456028, 77457958-77457977, 77513733 |
| 282 | ELANE | 19 | 0.42910447761194 | 459 | 804 | 852329-852376, 852876-852886, 852900-852929, 852938-853032, 853262-853403, 855577-855608, 855621-855637, 855675-855691, 855729, 855732, 855966, 855982-855994, 855997, 856004-856041, 856123, 856128, 856131-856132, 856148, 856152-856158 |
| 283 | KISS1R | 19 | 0.61487050960735 | 461 | 1197 | 917511-917531, 917536, 917549-917562, 917581-917627, 917656, 917660-917662, 917667, 917688-917715, 918554-918585, 918602-918668, 919892-919896, 919933-919935, 919940-919945, 919949-919950, 919961, 919973-919976, 920036-920042, 920072-920106, 920290-920296, 920301-920320, 920333-920339, 920351-920382, 920386, 920389, 920414-920456, 920531-920537, 920571-920604, 920718-920748 |
| 284 | STK11 | 19 | 0.97542242703533 | 32 | 1302 | 1207019-1207040, 1207083, 1207117, 1220648-1220655 |
| 285 | RAX2 | 19 | 0.9963963963964 | 2 | 555 | 3770921-3770922 |
| 286 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 287 | TUBB4 | 19 | 0.99925093632959 | 1 | 1335 | 6495223 |
| 288 | C3 | 19 | 0.89142628205128 | 542 | 4992 | 6693489, 6694497, 6694605-6694609, 6696612-6696618, 6697406-6697410, 6697689-6697701, 6697728-6697731, 6697788, 6697792-6697805, 6707087-6707136, 6707151-6707188, 6707220-6707234, 6707251, 6707515-6707538, 6707829-6707832, 6707850, 6707869-6707871, 6707917-6707923, 6709695-6709853, 6710716-6710729, 6710841-6710847, 6711090-6711104, 6712276-6712277, 6713308, 6713312-6713326, 6713464-6713481, 6713512-6713516, 6714003-6714074, 6714199-6714233, 6714363-6714367 |
| 289 | INSR | 19 | 0.99084116654616 | 38 | 4149 | 7184352, 7184357-7184361, 7184648, 7293860-7293883, 7293890, 7293897-7293902 |
| 290 | PNPLA6 | 19 | 0.99397590361446 | 24 | 3984 | 7615903-7615909, 7615952-7615967, 7620165 |
| 291 | STXBP2 | 19 | 0.98428731762065 | 28 | 1782 | 7707132, 7707136, 7707405, 7707421-7707422, 7707705-7707706, 7708083-7708103 |
| 292 | TYK2 | 19 | 0.92929292929293 | 252 | 3564 | 10463122, 10463140-10463144, 10463147-10463150, 10463680-10463682, 10463771, 10464204-10464218, 10464268, 10465200, 10468440-10468456, 10469975-10469978, 10475652, 10476432-10476437, 10488890-10489082 |
| 293 | DNM2 | 19 | 0.99885189437428 | 3 | 2613 | 10912975, 10941667-10941668 |
| 294 | PRKCSH | 19 | 0.99558916194077 | 7 | 1587 | 11557940-11557942, 11558275, 11558341-11558343 |
| 295 | MAN2B1 | 19 | 0.94828722002635 | 157 | 3036 | 12758331-12758333, 12758337, 12758358, 12759021-12759032, 12768260-12768286, 12768300-12768323, 12768341-12768348, 12768366-12768369, 12768894-12768902, 12769130-12769156, 12769284-12769324 |
| 296 | CACNA1A | 19 | 0.95492620662146 | 339 | 7521 | 13318566-13318597, 13318650-13318699, 13318737-13318743, 13319692-13319696, 13409359-13409365, 13409480, 13409561-13409574, 13409593-13409608, 13409634, 13409697-13409698, 13409711-13409725, 13409757, 13409763-13409764, 13409769, 13409776, 13409842-13409847, 13409884-13409893, 13414361-13414362, 13414594, 13616778-13616810, 13616816-13616817, 13616839-13616847, 13616870-13616903, 13616912-13616936, 13616943-13616970, 13616988-13617017, 13617022-13617024, 13617038 |
| 297 | NOTCH3 | 19 | 0.98033304622452 | 137 | 6966 | 15272201, 15272204-15272208, 15276857-15276871, 15281215, 15281325-15281331, 15284981-15284987, 15285052, 15285060, 15285086, 15288362, 15288505, 15288641-15288654, 15288735, 15288743, 15288817-15288847, 15302248, 15302359-15302364, 15302829, 15302844, 15302848, 15311610, 15311616-15311628, 15311631-15311650, 15311664-15311666, 15311681, 15311694 |
| 298 | JAK3 | 19 | 0.95940740740741 | 137 | 3375 | 17940917-17940941, 17940951-17941010, 17941312-17941322, 17941370-17941381, 17942064-17942075, 17943422-17943438 |
| 299 | IL12RB1 | 19 | 0.90849673202614 | 182 | 1989 | 18179318, 18180496-18180509, 18182956, 18182968-18183009, 18184406, 18186610-18186613, 18186616, 18186645-18186678, 18188352-18188357, 18188382-18188387, 18188416-18188422, 18188433-18188442, 18191752-18191759, 18191768-18191773, 18197570-18197606, 18197630-18197633 |
| 300 | COMP | 19 | 0.96394019349164 | 82 | 2274 | 18896501-18896507, 18896572-18896577, 18896844-18896862, 18899031, 18899454, 18899458, 18899467, 18899474, 18899983-18899986, 18899994-18899997, 18900044-18900076, 18901663, 18901667, 18901672, 18901680 |
| 301 | SLC7A9 | 19 | 0.99658469945355 | 5 | 1464 | 33333106-33333110 |
| 302 | CEBPA | 19 | 0.78551532033426 | 231 | 1077 | 33792487, 33792616, 33792634, 33792753-33792776, 33792865-33792871, 33792874, 33792879, 33792885, 33792916-33792944, 33792959-33792995, 33793004-33793050, 33793147-33793153, 33793156-33793158, 33793189, 33793193-33793196, 33793222-33793242, 33793272-33793316 |
| 303 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 304 | MAG | 19 | 0.87134502923977 | 242 | 1881 | 35786868, 35790457-35790571, 35790592-35790602, 35790633-35790651, 35790691-35790712, 35790721, 35790726-35790733, 35790741, 35790749, 35791050, 35791071-35791093, 35791117-35791152, 35791306-35791307, 35793415 |
| 305 | PRODH2 | 19 | 0.95344506517691 | 75 | 1611 | 36290982, 36290985, 36291076-36291077, 36291089, 36297702-36297703, 36297947-36297981, 36303287, 36303302-36303326, 36303336-36303340, 36304095-36304096 |
| 306 | NPHS1 | 19 | 0.99892646269458 | 4 | 3726 | 36322647, 36326661-36326663 |
| 307 | SDHAF1 | 19 | 0.99712643678161 | 1 | 348 | 36486179 |
| 308 | RYR1 | 19 | 0.95223920089965 | 722 | 15117 | 38931389-38931390, 38931393, 38931399-38931409, 38931415, 38931430, 38931447-38931448, 38931451-38931504, 38935280, 38937342-38937370, 38943588, 38948711-38948717, 38951081-38951082, 38951114-38951117, 38951147-38951193, 38954075-38954091, 38954132-38954167, 38954387-38954388, 38954425-38954431, 38954473-38954490, 38956784-38956791, 38959737-38959750, 38959970-38960011, 38960088, 38960095-38960097, 38968486, 38986916, 38987077-38987089, 38987149-38987154, 38987157, 38987521, 38987526, 38989774-38989777, 38990556-38990562, 38991476-38991479, 38997487-38997488, 38998415-38998427, 39002926, 39003061-39003067, 39005666-39005672, 39005710-39005714, 39006773-39006785, 39006820, 39006823, 39014556, 39018299-39018306, 39018311-39018335, 39037109-39037111, 39037140, 39055609, 39055615, 39055711-39055744, 39055766, 39055774, 39055781, 39055795, 39055808-39055848, 39055873-39055912, 39055920-39055958, 39055963-39055994, 39056038, 39056080, 39056165-39056184, 39056209-39056218, 39075616-39075633, 39075686-39075727 |
| 309 | ACTN4 | 19 | 0.97258771929825 | 75 | 2736 | 39138495-39138513, 39138531, 39138544, 39219723-39219724, 39219946-39219995, 39220033-39220034 |
| 310 | DLL3 | 19 | 0.99892299407647 | 2 | 1857 | 39993470, 39993604 |
| 311 | PRX | 19 | 0.9906520747834 | 41 | 4386 | 40901303-40901306, 40903470-40903480, 40909621, 40909659-40909663, 40909750-40909769 |
| 312 | ATP1A3 | 19 | 0.99537792278412 | 17 | 3678 | 42471323-42471326, 42480568-42480573, 42489288, 42498223-42498228 |
| 313 | ETHE1 | 19 | 0.95032679738562 | 38 | 765 | 44012096-44012108, 44012181-44012188, 44012212, 44012928-44012942, 44031313 |
| 314 | BCAM | 19 | 0.96025437201908 | 75 | 1887 | 45312409-45312428, 45312449-45312452, 45323995, 45324000-45324001, 45324005-45324006, 45324040-45324079, 45324173-45324178 |
| 315 | APOC2 | 19 | 0.83006535947712 | 52 | 306 | 45452026, 45452420-45452438, 45452475-45452506 |
| 316 | FKRP | 19 | 0.96639784946237 | 50 | 1488 | 47259018, 47259374, 47259386-47259388, 47259474-47259489, 47259565, 47259649-47259652, 47259658-47259681 |
| 317 | DBP | 19 | 0.80265848670757 | 193 | 978 | 49134201, 49138840-49138841, 49138846-49138867, 49138877, 49138880-49138883, 49138894-49138905, 49138913, 49138954-49138991, 49139013-49139056, 49139070, 49139082-49139136, 49139151, 49139156, 49139179, 49139192, 49139200-49139205, 49139208, 49140216 |
| 318 | GYS1 | 19 | 0.99909665763324 | 2 | 2214 | 49494740, 49496302 |
| 319 | MYH14 | 19 | 0.99901816396662 | 6 | 6111 | 50764802-50764807 |
| 320 | KCNC3 | 19 | 0.54617414248021 | 1032 | 2274 | 50823517-50823519, 50823522-50823547, 50823557-50823581, 50826243-50826249, 50826290, 50826317-50826356, 50826376-50826387, 50826400-50826413, 50826448-50826471, 50826514, 50826600, 50826694, 50826700-50826714, 50826724, 50826896-50826901, 50826911, 50827179-50827182, 50827192, 50831470-50831476, 50831487-50831513, 50831519-50831819, 50831826-50832339 |
| 321 | KLK4 | 19 | 0.87320261437908 | 97 | 765 | 51411836-51411838, 51411923, 51412508-51412550, 51412560, 51412590-51412623, 51412658-51412661, 51412663-51412664, 51412668, 51413984-51413991 |
| 322 | PRKCG | 19 | 0.9450811843362 | 115 | 2094 | 54401734-54401756, 54401851, 54403963, 54409571-54409593, 54409596, 54409628-54409647, 54409991-54410016, 54410101-54410107, 54410123-54410135 |
| 323 | PRPF31 | 19 | 0.99133333333333 | 13 | 1500 | 54621694-54621699, 54632442-54632444, 54634738, 54634787, 54634791, 54634794 |
| 324 | NLRP7 | 19 | 0.98362235067437 | 51 | 3114 | 55451167-55451216, 55451249 |
| 325 | TNNT1 | 19 | 0.68187579214195 | 251 | 789 | 55644289-55644300, 55644325, 55645255-55645295, 55645458-55645465, 55645484-55645505, 55648476, 55648491, 55648518-55648519, 55648524, 55648528-55648563, 55649329-55649363, 55649411-55649417, 55649420-55649437, 55649442, 55652317, 55652634, 55657802-55657834, 55658049-55658075, 55658387-55658389 |
| 326 | TNNI3 | 19 | 0.34975369458128 | 396 | 609 | 55663202-55663210, 55665402-55665460, 55665485-55665502, 55665554-55665574, 55666109, 55666130-55666198, 55667574-55667613, 55667621-55667700, 55667971-55668012, 55668418-55668460, 55668485-55668487, 55668491-55668501 |
| 327 | TPO | 2 | 0.90542469664525 | 265 | 2802 | 1520655-1520734, 1520741, 1544366-1544495, 1546193-1546246 |
| 328 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10183844-10183885 |
| 329 | MATN3 | 2 | 0.9192334017796 | 118 | 1461 | 20212177-20212205, 20212287-20212321, 20212339-20212392 |
| 330 | APOB | 2 | 0.99912357581069 | 12 | 13692 | 21225095-21225099, 21266748-21266754 |
| 331 | OTOF | 2 | 0.94144144144144 | 351 | 5994 | 26695390-26695416, 26696970-26696977, 26697381-26697430, 26697456-26697462, 26697474, 26697486-26697495, 26697498, 26697528, 26697531-26697538, 26698336, 26698807, 26698996, 26699025-26699046, 26699092-26699110, 26699759-26699772, 26699792-26699815, 26699836-26699883, 26699890-26699911, 26700056-26700079, 26700101-26700103, 26700119-26700134, 26700297-26700304, 26700315-26700317, 26700321, 26700332-26700333, 26700343-26700351, 26700359, 26700522-26700540 |
| 332 | ALK | 2 | 0.99979436561793 | 1 | 4863 | 30143499 |
| 333 | SRD5A2 | 2 | 0.98556430446194 | 11 | 762 | 31805779, 31805830-31805834, 31805876-31805877, 31805927-31805928, 31805951 |
| 334 | SPAST | 2 | 0.99621826039978 | 7 | 1851 | 32289149, 32289223-32289226, 32362192, 32379482 |
| 335 | CYP1B1 | 2 | 0.98713235294118 | 21 | 1632 | 38298433, 38302200-38302211, 38302414, 38302420, 38302439-38302441, 38302449-38302451 |
| 336 | SOS1 | 2 | 0.99525237381309 | 19 | 4002 | 39281875, 39283876-39283882, 39283888-39283889, 39347510, 39347520, 39347541-39347547 |
| 337 | ABCG8 | 2 | 0.98565776458952 | 29 | 2022 | 44099141, 44102374-44102401 |
| 338 | LRPPRC | 2 | 0.99784946236559 | 9 | 4185 | 44170860, 44175302, 44209474-44209480 |
| 339 | MSH2 | 2 | 0.99857397504456 | 4 | 2805 | 47707907-47707909, 47707978 |
| 340 | MSH6 | 2 | 0.94685280431056 | 217 | 4083 | 48010373-48010387, 48010408-48010409, 48010412-48010415, 48010423-48010573, 48010588-48010632 |
| 341 | LHCGR | 2 | 0.99095238095238 | 19 | 2100 | 48925920-48925926, 48941147, 48941152-48941153, 48982759-48982761, 48982786-48982791 |
| 342 | FSHR | 2 | 0.99904214559387 | 2 | 2088 | 49189921, 49381507 |
| 343 | NRXN1 | 2 | 0.97152542372881 | 126 | 4425 | 51254765, 51254780-51254785, 51254912, 51254915-51254921, 51255131-51255160, 51255240-51255242, 51255245-51255247, 51255253-51255272, 51255318-51255326, 51255333, 51255349-51255393 |
| 344 | FANCL | 2 | 0.99202127659574 | 9 | 1128 | 58390164-58390170, 58425752-58425753 |
| 345 | MCEE | 2 | 0.83992467043315 | 85 | 531 | 71337100-71337129, 71337169-71337223 |
| 346 | DYSF | 2 | 0.99952830188679 | 3 | 6360 | 71847694, 71847701-71847702 |
| 347 | SPR | 2 | 0.99872773536896 | 1 | 786 | 73114721 |
| 348 | ALMS1 | 2 | 0.99936020473448 | 8 | 12504 | 73613030-73613037 |
| 349 | SUCLG1 | 2 | 0.99903938520653 | 1 | 1041 | 84650870 |
| 350 | GGCX | 2 | 0.99780412823891 | 5 | 2277 | 85780536, 85780601, 85785673, 85788527, 85788530 |
| 351 | REEP1 | 2 | 0.98349834983498 | 10 | 606 | 86564624-86564633 |
| 352 | EIF2AK3 | 2 | 0.99045061175768 | 32 | 3351 | 88888406-88888419, 88926730-88926747 |
| 353 | TMEM127 | 2 | 0.96373779637378 | 26 | 717 | 96930877, 96930915, 96930918, 96930922, 96930926, 96931008, 96931011-96931014, 96931037, 96931076-96931089, 96931096 |
| 354 | ZAP70 | 2 | 0.99301075268817 | 13 | 1860 | 98340551-98340556, 98340874-98340880 |
| 355 | CNGA3 | 2 | 0.99760191846523 | 5 | 2085 | 99012363-99012366, 99013204 |
| 356 | RANBP2 | 2 | 0.86149870801034 | 1340 | 9675 | 109336080, 109336103-109336134, 109345588-109345617, 109347230-109347276, 109347320, 109347340-109347341, 109347815-109347859, 109347869-109347903, 109347929-109347930, 109351988-109351996, 109352023-109352071, 109352084-109352120, 109352184-109352192, 109352560-109352572, 109352687, 109357053, 109357076, 109357110-109357126, 109363167-109363199, 109363251-109363254, 109365376, 109365424-109365426, 109365544-109365583, 109367754, 109368049, 109368082-109368112, 109368352-109368372, 109368420-109368450, 109369455-109369498, 109369542-109369584, 109369899-109369948, 109370292-109370327, 109370387-109370427, 109371418-109371450, 109371632-109371634, 109374933-109374972, 109378557, 109380742, 109382531-109382543, 109382866-109382895, 109382906-109382953, 109383003, 109383084-109383113, 109383126-109383163, 109383283-109383301, 109383426, 109383472-109383515, 109383675, 109383679, 109383767-109383814, 109383869-109383891, 109383983, 109384004-109384013, 109384122-109384192, 109384199-109384243, 109384333-109384339, 109384450-109384488, 109384564, 109384612, 109384782-109384844, 109389409-109389423 |
| 357 | NPHP1 | 2 | 0.97738446411013 | 46 | 2034 | 110907779-110907822, 110917733, 110917752 |
| 358 | MERTK | 2 | 0.99033333333333 | 29 | 3000 | 112656313-112656341 |
| 359 | GLI2 | 2 | 0.99978996009242 | 1 | 4761 | 121746590 |
| 360 | CFC1 | 2 | 0.9389880952381 | 41 | 672 | 131280422-131280462 |
| 361 | LCT | 2 | 0.99982710926694 | 1 | 5784 | 136558243 |
| 362 | MCM6 | 2 | 0.99716139497161 | 7 | 2466 | 136602157-136602160, 136616943, 136626205, 136626209 |
| 363 | MMADHC | 2 | 0.996632996633 | 3 | 891 | 150426488-150426489, 150427630 |
| 364 | NEB | 2 | 0.99769700610794 | 46 | 19974 | 152352872, 152432795, 152432840-152432843, 152499162, 152500458, 152500499-152500518, 152501002-152501009, 152501042-152501049, 152507398-152507399 |
| 365 | SCN2A | 2 | 0.9991691591891 | 5 | 6018 | 166237618-166237622 |
| 366 | GALNT3 | 2 | 0.9794952681388 | 39 | 1902 | 166626735, 166626795-166626797, 166626858-166626861, 166626903-166626918, 166627013, 166627116-166627123, 166627171-166627176 |
| 367 | SCN1A | 2 | 0.99483074870769 | 31 | 5997 | 166856256-166856258, 166859225-166859228, 166866351, 166868649-166868659, 166868686-166868690, 166868700, 166870317, 166872117-166872121 |
| 368 | SCN9A | 2 | 0.98938321536906 | 63 | 5934 | 167055241-167055243, 167055917-167055919, 167056143-167056146, 167056172-167056175, 167056220-167056223, 167060466-167060467, 167060471, 167060477-167060480, 167060587, 167083154, 167089969-167089972, 167094644-167094648, 167099014-167099032, 167133691-167133695, 167168093, 167168095-167168096 |
| 369 | CHN1 | 2 | 0.98623188405797 | 19 | 1380 | 175869622-175869640 |
| 370 | HOXD13 | 2 | 0.99418604651163 | 6 | 1032 | 176957711-176957716 |
| 371 | AGPS | 2 | 0.98634294385432 | 27 | 1977 | 178301535-178301560, 178346914 |
| 372 | PRKRA | 2 | 0.98619957537155 | 13 | 942 | 179315028-179315034, 179315719-179315724 |
| 373 | DFNB59 | 2 | 0.99622285174693 | 4 | 1059 | 179319134, 179319253-179319254, 179320840 |
| 374 | TTN | 2 | 0.99737650626446 | 263 | 100248 | 179517252-179517258, 179543489-179543490, 179549415, 179554044-179554051, 179556794, 179565849-179565880, 179566922-179566947, 179566950-179566955, 179567298-179567300, 179567303, 179567352-179567383, 179568875, 179569033, 179569127, 179569258-179569267, 179569419-179569425, 179569455, 179569901-179569923, 179571406-179571417, 179571681, 179575908, 179575912-179575920, 179575923-179575927, 179575953-179575966, 179585769-179585776, 179597585-179597588, 179597690, 179598018-179598019, 179644035, 179650617-179650639, 179659676, 179659930, 179664285-179664291, 179665139-179665145, 179666886-179666887, 179666991 |
| 375 | CERKL | 2 | 0.95997498436523 | 64 | 1599 | 182468573-182468609, 182468636, 182468647-182468660, 182468663, 182468715, 182468732, 182468739-182468746, 182468755 |
| 376 | COL3A1 | 2 | 0.99750056805272 | 11 | 4401 | 189855752, 189860455-189860457, 189872616-189872620, 189872625-189872626 |
| 377 | COL5A2 | 2 | 0.99911111111111 | 4 | 4500 | 189909949-189909952 |
| 378 | CASP8 | 2 | 0.99938157081014 | 1 | 1617 | 202149589 |
| 379 | ALS2 | 2 | 0.98110172899075 | 94 | 4974 | 202569243, 202569862-202569867, 202569890-202569896, 202571569-202571577, 202571603-202571622, 202571646-202571685, 202571735-202571745 |
| 380 | BMPR2 | 2 | 0.98203400705807 | 56 | 3117 | 203332306-203332308, 203332313-203332314, 203332339-203332343, 203378469-203378497, 203378507-203378508, 203383635-203383649 |
| 381 | FASTKD2 | 2 | 0.9831223628692 | 36 | 2133 | 207635908-207635943 |
| 382 | ABCA12 | 2 | 0.9931946584489 | 53 | 7788 | 215818586, 215818589, 215823102, 215823167-215823169, 215831586-215831608, 215831639-215831649, 215843062-215843065, 215901762-215901766, 215901774, 215928897-215928899 |
| 383 | SMARCAL1 | 2 | 0.99441535776614 | 16 | 2865 | 217340038, 217340048-217340062 |
| 384 | DES | 2 | 0.95470629865534 | 64 | 1413 | 220283208-220283249, 220283259, 220283287-220283297, 220283352, 220283442-220283444, 220283581, 220283708-220283712 |
| 385 | OBSL1 | 2 | 0.99455280267088 | 31 | 5691 | 220435657-220435659, 220435733, 220435860-220435865, 220435871, 220435932-220435951 |
| 386 | COL4A3 | 2 | 0.99860363056054 | 7 | 5013 | 228128537-228128543 |
| 387 | AGXT | 2 | 0.90076335877863 | 117 | 1179 | 241808285, 241808380-241808384, 241808395-241808431, 241808444-241808447, 241808667-241808676, 241808723-241808726, 241808731, 241808734-241808736, 241808740-241808744, 241808747, 241808751-241808756, 241810077, 241810087-241810096, 241810771, 241810806-241810827, 241812396-241812401 |
| 388 | D2HGDH | 2 | 0.87484035759898 | 196 | 1566 | 242695360, 242695379, 242707154-242707214, 242707235-242707236, 242707246-242707376 |
| 389 | AVP | 20 | 0.93131313131313 | 34 | 495 | 3063338-3063340, 3063347-3063349, 3063406-3063430, 3063645-3063647 |
| 390 | PANK2 | 20 | 0.66666666666667 | 571 | 1713 | 3869751, 3869784-3870328, 3870343-3870367 |
| 391 | FERMT1 | 20 | 0.99852507374631 | 3 | 2034 | 6060126-6060128 |
| 392 | JAG1 | 20 | 0.98550724637681 | 53 | 3657 | 10633121, 10653354-10653357, 10653371, 10653375, 10653462-10653501, 10653599-10653601, 10654130, 10654174-10654175 |
| 393 | C20orf7 | 20 | 0.99614643545279 | 4 | 1038 | 13765724-13765725, 13782264-13782265 |
| 394 | SNTA1 | 20 | 0.86100131752306 | 211 | 1518 | 32031158, 32031167-32031185, 32031203-32031241, 32031250-32031258, 32031284-32031426 |
| 395 | SAMHD1 | 20 | 0.9973418394471 | 5 | 1881 | 35579859-35579863 |
| 396 | HNF4A | 20 | 0.99719298245614 | 4 | 1425 | 43052822-43052825 |
| 397 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520238-44520240 |
| 398 | GNAS | 20 | 0.99864498644986 | 1 | 738 | 57415892 |
| 399 | GNAS | 20 | 0.99967886962107 | 1 | 3114 | 57430158 |
| 400 | COL9A3 | 20 | 0.99756690997567 | 5 | 2055 | 61456337, 61456368, 61461904, 61461907, 61461918 |
| 401 | CHRNA4 | 20 | 0.80891719745223 | 360 | 1884 | 61981057, 61981061, 61981112-61981116, 61981134, 61981268, 61981277, 61981432-61981436, 61981475, 61981607-61981617, 61981688, 61987327-61987329, 61987367-61987436, 61987737-61987767, 61990900-61991051, 61992442-61992517 |
| 402 | KCNQ2 | 20 | 0.7037037037037 | 776 | 2619 | 62070040-62070047, 62071031, 62071034-62071058, 62073759-62073884, 62076012-62076039, 62076059-62076182, 62076606-62076702, 62076713-62076717, 62078125-62078190, 62103521-62103816 |
| 403 | SOX18 | 20 | 0.59220779220779 | 471 | 1155 | 62679611, 62679860, 62679866-62679874, 62679932-62679945, 62679955-62679985, 62680032-62680034, 62680139-62680184, 62680196-62680201, 62680206, 62680311, 62680512-62680869 |
| 404 | IFNGR2 | 21 | 0.93195266272189 | 69 | 1014 | 34775850-34775918 |
| 405 | RCAN1 | 21 | 0.85902503293808 | 107 | 759 | 35987146-35987217, 35987275-35987309 |
| 406 | HLCS | 21 | 0.99037138927098 | 21 | 2181 | 38309180-38309185, 38309223-38309232, 38309347, 38309605-38309608 |
| 407 | TMPRSS3 | 21 | 0.99047619047619 | 13 | 1365 | 43796694-43796706 |
| 408 | AIRE | 21 | 0.99084249084249 | 15 | 1638 | 45705991-45705992, 45713046-45713058 |
| 409 | ITGB2 | 21 | 0.98095238095238 | 44 | 2310 | 46308685-46308705, 46309395, 46309930, 46309962-46309963, 46309975-46309993 |
| 410 | COL18A1 | 21 | 0.80968660968661 | 1002 | 5265 | 46876611-46876627, 46899871-46899875, 46900410, 46901877-46901899, 46906787-46906791, 46906795-46906796, 46906815, 46906818-46906819, 46906828-46906845, 46906873-46906877, 46906888, 46907407, 46908332-46908344, 46909400-46909407, 46909422, 46909433, 46910189-46910260, 46910750-46910782, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913468, 46913477-46913489, 46914459-46914485, 46914776-46914794, 46914812-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923943, 46923957-46923965, 46924333-46924337, 46924341, 46924351-46924357, 46924414, 46924419, 46924426-46924434, 46925049-46925050, 46925062-46925079, 46925107-46925125, 46925152, 46925159-46925168, 46925171-46925176, 46925183-46925190, 46925286, 46925294-46925297, 46925304, 46925307-46925308, 46925333-46925345, 46925753-46925787, 46925808, 46925825-46925828, 46925838-46925843, 46925849, 46925872-46925880, 46927489, 46927492, 46930089-46930095 |
| 411 | COL6A1 | 21 | 0.73663751214772 | 813 | 3087 | 47401765-47401861, 47402548-47402677, 47404183-47404247, 47404254-47404383, 47406454-47406499, 47406535-47406536, 47406553, 47406563-47406580, 47406858-47406880, 47406928-47406973, 47407413-47407433, 47407524-47407568, 47408998-47409019, 47409522-47409524, 47410172-47410178, 47410292-47410336, 47410687, 47410717, 47410721, 47411924-47411926, 47411934, 47414087, 47417346, 47418050-47418056, 47418064-47418085, 47418316-47418328, 47419072-47419089, 47419132, 47419586-47419606, 47422201, 47423514-47423515, 47423717-47423726, 47423827-47423834 |
| 412 | COL6A2 | 21 | 0.83790849673203 | 496 | 3060 | 47531395-47531444, 47531451-47531494, 47531893-47531908, 47532002, 47532064, 47532104-47532109, 47532281-47532283, 47532390-47532404, 47533951-47533960, 47536567-47536573, 47538585, 47538959-47538960, 47538981, 47539702-47539719, 47539732, 47539736-47539738, 47539743-47539764, 47540429-47540453, 47540978, 47540989-47541026, 47541470-47541472, 47541502-47541507, 47542070-47542072, 47542443-47542445, 47545475, 47545699-47545721, 47545756-47545757, 47545789, 47545857-47545865, 47545925-47545937, 47546111-47546134, 47546137, 47546143, 47546147, 47546446-47546447, 47551875-47551923, 47551979-47551981, 47551994, 47551999-47552000, 47552006-47552008, 47552070-47552071, 47552075, 47552086-47552102, 47552117-47552121, 47552127-47552130, 47552164-47552165, 47552180, 47552202-47552203, 47552272, 47552279-47552297, 47552301, 47552312, 47552316, 47552320-47552337, 47552347, 47552351, 47552358, 47552436-47552437 |
| 413 | COL6A2 | 21 | 0.83918128654971 | 55 | 342 | 47552202-47552203, 47552272, 47552279-47552297, 47552301, 47552312, 47552316, 47552320-47552337, 47552347, 47552351, 47552358, 47552436-47552437, 47552515, 47552519-47552524 |
| 414 | FTCD | 21 | 0.43972939729397 | 911 | 1626 | 47556901-47556966, 47557162-47557164, 47557169, 47557176, 47557216-47557219, 47557226, 47557229, 47558422-47558425, 47558447-47558468, 47558473, 47558504-47558560, 47558794-47558817, 47558820-47558835, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570049, 47570065-47570066, 47570072-47570090, 47570140-47570159, 47570307-47570333, 47570371-47570406, 47571481, 47571512, 47571557-47571573, 47571599-47571606, 47571622-47571651, 47571812, 47571820-47571821, 47571848-47571849, 47571858-47571894, 47572875-47572899, 47572912-47572949, 47574071-47574113, 47574174-47574191, 47574208-47574218, 47575437 |
| 415 | PCNT | 21 | 0.97942263510139 | 206 | 10011 | 47744154-47744181, 47766839-47766845, 47783698-47783714, 47783758-47783767, 47786583-47786647, 47786664-47786711, 47786725-47786732, 47786783-47786785, 47787034-47787048, 47801720-47801724 |
| 416 | PRODH | 22 | 0.99334442595674 | 12 | 1803 | 18923532, 18923544-18923553, 18923692 |
| 417 | GP1BB | 22 | 0.38969404186795 | 379 | 621 | 19711378-19711429, 19711438-19711444, 19711493-19711494, 19711502-19711523, 19711552-19711561, 19711575-19711579, 19711596-19711610, 19711629-19711746, 19711770-19711826, 19711832-19711860, 19711884-19711918, 19711938-19711963, 19711987 |
| 418 | TBX1 | 22 | 0.95161290322581 | 72 | 1488 | 19748428-19748454, 19748477-19748492, 19748524-19748528, 19748534-19748537, 19748551, 19748562-19748573, 19753921-19753927 |
| 419 | SMARCB1 | 22 | 0.99395509499136 | 7 | 1158 | 24129432-24129438 |
| 420 | CHEK2 | 22 | 0.94094264622374 | 104 | 1761 | 29083892-29083917, 29083946-29083967, 29085135-29085171, 29090054, 29091142, 29091157, 29091176, 29091197-29091203, 29091808, 29121285-29121291 |
| 421 | TRIOBP | 22 | 0.9342068188222 | 467 | 7098 | 38119739-38119770, 38119784-38119804, 38119829-38119835, 38119891-38119897, 38119976-38120015, 38120026-38120068, 38120117-38120134, 38120173-38120199, 38120426-38120450, 38120480, 38120665-38120679, 38120764-38120810, 38120837-38120869, 38120897-38120941, 38120962-38120968, 38121862, 38121938-38121956, 38121959, 38121980, 38122090-38122112, 38122241-38122260, 38122446, 38122469, 38122476-38122498, 38161729, 38165167, 38165172-38165176, 38165180-38165181 |
| 422 | PLA2G6 | 22 | 0.76687116564417 | 114 | 489 | 38508297, 38508516-38508543, 38509589-38509590, 38509595-38509640, 38509822-38509858 |
| 423 | PLA2G6 | 22 | 0.93804213135068 | 150 | 2421 | 38508186-38508189, 38508233-38508245, 38508297, 38508516-38508543, 38509589-38509590, 38509595-38509640, 38511552-38511558, 38511561, 38511648-38511650, 38512082-38512105, 38512119, 38512138, 38512144-38512146, 38512196-38512211 |
| 424 | EP300 | 22 | 0.99958592132505 | 3 | 7245 | 41546133-41546134, 41547989 |
| 425 | TNFRSF13C | 22 | 0.94414414414414 | 31 | 555 | 42322232-42322246, 42322261, 42322655, 42322669-42322682 |
| 426 | CYB5R3 | 22 | 0.99448123620309 | 5 | 906 | 43027384-43027388 |
| 427 | MLC1 | 22 | 0.74779541446208 | 286 | 1134 | 50500012-50500086, 50502463-50502627, 50506939-50506946, 50506977-50506984, 50508966, 50508976-50508977, 50515895-50515917, 50518441, 50518793, 50523212, 50523273 |
| 428 | TYMP | 22 | 0.91994478951001 | 116 | 1449 | 50964207, 50964214-50964221, 50964265-50964267, 50964313-50964322, 50964430-50964432, 50964438-50964439, 50964492-50964547, 50964701-50964722, 50965088, 50965095, 50965133-50965139, 50968114, 50968124 |
| 429 | ARSA | 22 | 0.60958005249344 | 595 | 1524 | 51063573-51063667, 51063673-51063688, 51063713-51063729, 51063789, 51063800-51063883, 51064007-51064010, 51064031-51064070, 51064087-51064090, 51064372-51064425, 51064447-51064491, 51064608, 51064677-51064693, 51065023-51065028, 51065051, 51065076-51065079, 51065134-51065140, 51065289, 51065360-51065405, 51065427, 51065454-51065480, 51065619-51065662, 51065712, 51065739-51065760, 51065807, 51066029-51066044, 51066118-51066157 |
| 430 | SHANK3 | 22 | 0.69774980930587 | 1585 | 5244 | 51113070-51113132, 51113476-51113512, 51113536, 51113542-51113661, 51113672-51113679, 51115053-51115068, 51115091-51115121, 51117036-51117040, 51117048-51117053, 51117070-51117111, 51117201, 51117210-51117224, 51117285-51117304, 51117307-51117312, 51117318-51117325, 51117338-51117342, 51117447-51117452, 51117474, 51117478, 51117494, 51117541-51117547, 51117553-51117574, 51117579-51117580, 51117590-51117603, 51117614, 51117740-51117758, 51117767-51117775, 51117799-51117821, 51117856, 51121768-51121845, 51123013-51123079, 51133365-51133381, 51135951-51136143, 51158709, 51158737-51158836, 51158846-51158893, 51158913-51158930, 51158949-51159038, 51159052, 51159079-51159096, 51159117, 51159121-51159133, 51159136-51159169, 51159192-51159225, 51159253-51159312, 51159330, 51159354-51159394, 51159418-51159423, 51159436-51159466, 51159658-51159692, 51159933, 51160056-51160063, 51160798-51160821, 51169208-51169223, 51169398-51169436, 51169506-51169538, 51169558-51169561, 51169564-51169583, 51169586-51169600, 51169603, 51169632-51169634, 51169673-51169701, 51169708, 51169710-51169713, 51169717, 51169721, 51169727-51169733 |
| 431 | FANCD2 | 3 | 0.93002717391304 | 309 | 4416 | 10080987, 10083370-10083372, 10107087-10107116, 10107144-10107171, 10108928, 10114555-10114567, 10114612-10114648, 10115033, 10116271-10116274, 10116308-10116338, 10119786, 10122845-10122859, 10122862, 10122901-10122909, 10123030-10123043, 10123052-10123060, 10123092-10123117, 10127514-10127516, 10128876-10128897, 10128899, 10130607, 10131985-10132013, 10135003, 10135997, 10136015, 10136025, 10136893-10136906, 10136958, 10138045-10138046, 10138075-10138076, 10138098, 10138111, 10140547-10140548, 10140552-10140553 |
| 432 | VHL | 3 | 0.99844236760125 | 1 | 642 | 10183804 |
| 433 | TSEN2 | 3 | 0.99928469241774 | 1 | 1398 | 12571361 |
| 434 | XPC | 3 | 0.99929153382926 | 2 | 2823 | 14209794-14209795 |
| 435 | GLB1 | 3 | 0.98475909537856 | 31 | 2034 | 33138503-33138507, 33138524-33138549 |
| 436 | CRTAP | 3 | 0.96102819237148 | 47 | 1206 | 33155755, 33155781, 33155839-33155859, 33155895-33155918 |
| 437 | TMIE | 3 | 0.98910675381264 | 5 | 459 | 46743023-46743027 |
| 438 | TMIE | 3 | 0.98301486199575 | 8 | 471 | 46743023-46743027, 46751074-46751076 |
| 439 | SLC25A20 | 3 | 0.99116997792494 | 8 | 906 | 48936139-48936146 |
| 440 | RFT1 | 3 | 0.90590405904059 | 153 | 1626 | 53156390-53156408, 53156416, 53156428, 53156431, 53156465-53156551, 53157743-53157748, 53157809-53157810, 53159925-53159960 |
| 441 | TKT | 3 | 0.99038461538462 | 18 | 1872 | 53289885-53289886, 53289917-53289925, 53289952-53289958 |
| 442 | ATXN7 | 3 | 0.90028188865398 | 283 | 2838 | 63898275-63898353, 63898356, 63898361-63898401, 63898414-63898449, 63898454-63898579 |
| 443 | ROBO2 | 3 | 0.99951655789219 | 2 | 4137 | 77607102, 77607231 |
| 444 | GBE1 | 3 | 0.99762920815552 | 5 | 2109 | 81627171, 81627235-81627237, 81699054 |
| 445 | CHMP2B | 3 | 0.9797507788162 | 13 | 642 | 87289926-87289938 |
| 446 | ARL13B | 3 | 0.82439782439782 | 226 | 1287 | 93761859-93762084 |
| 447 | CPOX | 3 | 0.98681318681319 | 18 | 1365 | 98312247-98312264 |
| 448 | UMPS | 3 | 0.999306999307 | 1 | 1443 | 124456659 |
| 449 | ATP2C1 | 3 | 0.99929824561404 | 2 | 2850 | 130716556, 130735052 |
| 450 | NPHP3 | 3 | 0.99549211119459 | 18 | 3993 | 132405188, 132406070, 132407918, 132409372, 132440954, 132441048-132441055, 132441067, 132441077-132441079, 132441168 |
| 451 | PCCB | 3 | 0.96234567901235 | 61 | 1620 | 136002758, 136016867, 136019872-136019912, 136019932-136019949 |
| 452 | PLOD2 | 3 | 0.97672375933246 | 53 | 2277 | 145788515-145788552, 145795682, 145796968, 145797000-145797007, 145797010-145797012, 145804651, 145809606 |
| 453 | HPS3 | 3 | 0.96716417910448 | 99 | 3015 | 148876569-148876580, 148876615-148876630, 148877979-148878025, 148878037-148878060 |
| 454 | PDCD10 | 3 | 0.97496087636933 | 16 | 639 | 167422658-167422673 |
| 455 | SLC2A2 | 3 | 0.99492063492063 | 8 | 1575 | 170715723-170715730 |
| 456 | DNAJC19 | 3 | 0.98860398860399 | 4 | 351 | 180705967-180705970 |
| 457 | MCCC1 | 3 | 0.96189164370983 | 83 | 2178 | 182735055-182735101, 182737918-182737922, 182737937, 182737958, 182737969, 182737993, 182737996-182738015, 182740205-182740208, 182743565-182743566, 182759427 |
| 458 | KLHL6 | 3 | 0.9978563772776 | 4 | 1866 | 183209746-183209749 |
| 459 | CLCN2 | 3 | 0.66295884315907 | 909 | 2697 | 184069820-184069824, 184070082-184070083, 184070119, 184070263-184070269, 184070537-184070561, 184070584-184070588, 184070821-184070845, 184070875-184070935, 184071047-184071050, 184071076-184071098, 184071113-184071115, 184071127-184071210, 184071450-184071502, 184071533, 184071550-184071562, 184071574-184071577, 184071889-184072000, 184072036-184072102, 184072336, 184072339, 184072348-184072350, 184072364-184072446, 184072695, 184072739-184072744, 184072749-184072757, 184073162-184073193, 184073232-184073279, 184073314, 184074781-184074798, 184074849-184074882, 184074970-184075029, 184075046-184075048, 184075169, 184075205-184075233, 184075429, 184075438, 184075457, 184075761-184075762, 184075997, 184076006-184076009, 184076076-184076098, 184076483, 184076566-184076601, 184076771, 184076776, 184076803-184076809, 184076817-184076820, 184079222 |
| 460 | TP63 | 3 | 0.9985315712188 | 3 | 2043 | 189526284-189526286 |
| 461 | CCDC50 | 3 | 0.98895790200138 | 16 | 1449 | 191047491-191047499, 191107355-191107361 |
| 462 | CPN2 | 3 | 0.85347985347985 | 240 | 1638 | 194061794-194061809, 194061853, 194061872-194061913, 194061932, 194061945, 194061955-194061958, 194061961, 194061968, 194062028-194062064, 194062074-194062084, 194062087-194062088, 194062108, 194062119, 194062143, 194062164-194062196, 194062210, 194062325-194062329, 194062332, 194062335, 194062338-194062347, 194062371-194062377, 194062648, 194062690-194062708, 194062813-194062825, 194062885, 194063036, 194063241-194063265, 194063303, 194063386 |
| 463 | PDE6B | 4 | 0.87446393762183 | 322 | 2565 | 647687-647688, 647775, 647900-647907, 649740, 650710-650713, 651279, 652747, 652775, 655990-655996, 656353, 656357, 656378-656407, 656898, 656926, 656953-656955, 656975, 657582-657659, 657910-657912, 658010, 658674-658676, 658679-658680, 658689-658699, 658726-658733, 659053-659064, 659088-659118, 660322-660327, 660386-660389, 661668, 661688-661700, 661723-661747, 661763-661775, 661784-661787, 663835-663858, 663867-663873, 663885-663896 |
| 464 | IDUA | 4 | 0.86901121304791 | 257 | 1962 | 980896-980897, 980899-980904, 980907, 980917, 980964-980974, 981723, 994480, 996186-996219, 996243, 996520-996521, 996548-996564, 996575-996590, 996630-996639, 996654-996669, 996706-996724, 996728-996732, 996824-996839, 996854, 996887-996929, 997145-997175, 997184-997199, 997819-997825 |
| 465 | HTT | 4 | 0.9862127479054 | 130 | 9429 | 3076604-3076672, 3076678-3076681, 3076684, 3076711-3076728, 3076756-3076782, 3076786-3076794, 3076810-3076811 |
| 466 | DOK7 | 4 | 0.86336633663366 | 207 | 1515 | 3465103-3465122, 3465233-3465255, 3475133-3475141, 3478069-3478097, 3478121-3478138, 3478154-3478251, 3494797-3494806 |
| 467 | DOK7 | 4 | 0.98307952622673 | 10 | 591 | 3494797-3494806 |
| 468 | EVC2 | 4 | 0.97173414820474 | 111 | 3927 | 5710013-5710045, 5710083-5710085, 5710094-5710101, 5710116-5710135, 5710142-5710147, 5710150-5710153, 5710182-5710190, 5710213-5710240 |
| 469 | EVC | 4 | 0.96173212487412 | 114 | 2979 | 5713108-5713139, 5713159-5713220, 5713253-5713271, 5713274 |
| 470 | PROM1 | 4 | 0.99961508852964 | 1 | 2598 | 16020054 |
| 471 | SGCB | 4 | 0.95820271682341 | 40 | 957 | 52894955-52894970, 52895914, 52904398-52904420 |
| 472 | PDGFRA | 4 | 0.99908256880734 | 3 | 3270 | 55146487, 55146492-55146493 |
| 473 | CDS1 | 4 | 0.9963924963925 | 5 | 1386 | 85530582-85530586 |
| 474 | DMP1 | 4 | 0.99933065595716 | 1 | 1494 | 88584238 |
| 475 | PKD2 | 4 | 0.99002407980736 | 29 | 2907 | 88928903-88928929, 88929122-88929123 |
| 476 | MTTP | 4 | 0.99478584729981 | 14 | 2685 | 100512395-100512400, 100515900-100515903, 100516022, 100529986, 100530005, 100530009 |
| 477 | CISD2 | 4 | 0.88725490196078 | 46 | 408 | 103806493, 103808498-103808522, 103808568-103808587 |
| 478 | CFI | 4 | 0.98858447488584 | 20 | 1752 | 110673642, 110723098-110723116 |
| 479 | ANK2 | 4 | 0.99730503621358 | 32 | 11874 | 114179527, 114186114, 114195612-114195618, 114195627, 114195679-114195680, 114195694, 114199667, 114213605-114213618, 114232535-114232538 |
| 480 | BBS12 | 4 | 0.99953117674637 | 1 | 2133 | 123664071 |
| 481 | NR3C2 | 4 | 0.99966159052453 | 1 | 2955 | 149115972 |
| 482 | CTSO | 4 | 0.97101449275362 | 28 | 966 | 156847194, 156874877-156874883, 156874887-156874889, 156874893-156874894, 156874940-156874954 |
| 483 | GLRB | 4 | 0.98795180722892 | 18 | 1494 | 158041708-158041725 |
| 484 | ETFDH | 4 | 0.99892125134844 | 2 | 1854 | 159606318, 159624715 |
| 485 | AGA | 4 | 0.99231508165226 | 8 | 1041 | 178355634-178355641 |
| 486 | SDHA | 5 | 0.84561403508772 | 308 | 1995 | 228300-228304, 228378-228399, 233595, 236546-236585, 236673-236700, 240498-240529, 251107-251114, 251137-251179, 251189-251218, 251504-251523, 251530-251569, 251583, 254606-254612, 256505-256535 |
| 487 | SLC6A19 | 5 | 0.91601049868766 | 160 | 1905 | 1201771-1201773, 1201798-1201807, 1201811, 1201831-1201906, 1201912, 1201920, 1201931-1201967, 1213598-1213601, 1213626-1213652 |
| 488 | TERT | 5 | 0.61400411885849 | 1312 | 3399 | 1254520-1254531, 1254534-1254538, 1254560, 1254563-1254569, 1258713-1258753, 1264519-1264522, 1264544-1264547, 1264566, 1264663-1264702, 1266579-1266630, 1266648-1266650, 1268645-1268721, 1268730-1268748, 1271234, 1271249-1271254, 1271260-1271275, 1271296, 1271298-1271319, 1272300-1272395, 1278794-1278819, 1278842-1278849, 1279437-1279442, 1279491-1279492, 1279512, 1279517-1279528, 1280308-1280388, 1280428-1280430, 1280450, 1282701-1282709, 1293440-1293460, 1293599, 1293632-1293640, 1293716-1293728, 1293734-1293737, 1293895-1293939, 1293968-1293978, 1294105-1294106, 1294181-1294290, 1294312-1294355, 1294392-1294434, 1294452-1294472, 1294492-1294536, 1294555-1294613, 1294632-1294723, 1294741-1294750, 1294762-1294781, 1294886-1294972, 1294987-1295104 |
| 489 | SLC6A3 | 5 | 0.83091787439614 | 315 | 1863 | 1409922, 1414806-1414930, 1416227-1416263, 1416290-1416316, 1420705-1420709, 1420743-1420769, 1420794-1420818, 1422002-1422043, 1422064-1422084, 1422125-1422129 |
| 490 | SDHA | 5 | 0.60550458715596 | 129 | 327 | 1589386-1589387, 1589424-1589455, 1593261-1593293, 1593325, 1593357-1593389, 1594524-1594551 |
| 491 | NDUFS6 | 5 | 0.70933333333333 | 109 | 375 | 1801532-1801548, 1801561-1801563, 1801584-1801663, 1802460-1802468 |
| 492 | DNAH5 | 5 | 0.99776576576577 | 31 | 13875 | 13788840, 13792256, 13792302, 13792324, 13794073-13794088, 13870991, 13883045-13883052, 13901535, 13916494 |
| 493 | FAM134B | 5 | 0.99933065595716 | 1 | 1494 | 16478200 |
| 494 | AMACR | 5 | 0.95648389904265 | 50 | 1149 | 33989416-33989428, 33998760-33998780, 33998804-33998808, 34007929-34007937, 34008024, 34008030 |
| 495 | NIPBL | 5 | 0.9961972667855 | 32 | 8415 | 36961645, 36962309, 36971026-36971035, 36971076-36971079, 36976259, 36976364, 37022184, 37048661, 37064061-37064063, 37064930-37064938 |
| 496 | LIFR | 5 | 0.99817850637523 | 6 | 3294 | 38493871, 38523646-38523650 |
| 497 | FGF10 | 5 | 0.99521531100478 | 3 | 627 | 44305098-44305100 |
| 498 | ITGA2 | 5 | 0.99971799210378 | 1 | 3546 | 52369002 |
| 499 | MOCS2 | 5 | 0.98501872659176 | 4 | 267 | 52405556-52405559 |
| 500 | ERCC8 | 5 | 0.97565071368598 | 29 | 1191 | 60170461-60170466, 60186788-60186805, 60200641-60200645 |
| 501 | MARVELD2 | 5 | 0.99940369707812 | 1 | 1677 | 68715782 |
| 502 | SMN2 | 5 | 0.92542372881356 | 66 | 885 | 69345513, 69345524-69345527, 69362946-69362961, 69372348-69372371, 69372378-69372398 |
| 503 | SMN2 | 5 | 0.95254237288136 | 42 | 885 | 70220931, 70220942-70220945, 70238370-70238385, 70247798-70247818 |
| 504 | MCCC2 | 5 | 0.95626477541371 | 74 | 1692 | 70922524-70922536, 70927963-70927968, 70928002-70928007, 70930770, 70936830-70936839, 70936867-70936902, 70939671-70939672 |
| 505 | HEXB | 5 | 0.9670855774985 | 55 | 1671 | 73981164-73981183, 73981220-73981252, 73981299-73981300 |
| 506 | AP3B1 | 5 | 0.94885844748858 | 168 | 3285 | 77298865, 77311238-77311258, 77311278-77311300, 77311322, 77311328-77311332, 77311340-77311343, 77316525-77316588, 77316594, 77316610-77316613, 77330243-77330269, 77334941-77334942, 77335031, 77335079-77335082, 77335097, 77458653-77458658, 77458695, 77471478, 77563386 |
| 507 | ARSB | 5 | 0.97815230961298 | 35 | 1602 | 78181477, 78280845-78280848, 78280996-78281000, 78281047-78281071 |
| 508 | VCAN | 5 | 0.99764498086547 | 24 | 10191 | 82786207-82786218, 82789451-82789462 |
| 509 | RASA1 | 5 | 0.91889312977099 | 255 | 3144 | 86564324-86564370, 86564417-86564463, 86564507-86564521, 86564536, 86564674-86564716, 86564772-86564779, 86633814, 86642526, 86642534, 86645033-86645039, 86645089, 86645131, 86649032-86649037, 86670027-86670035, 86670708-86670711, 86681118-86681122, 86682676-86682679, 86682717-86682720, 86685232-86685233, 86685287-86685325, 86686626, 86686635, 86686646-86686647, 86686675-86686679 |
| 510 | GPR98 | 5 | 0.99698747423498 | 57 | 18921 | 89918503-89918509, 89921043, 89924487, 89971135, 89971931-89971952, 90008124, 90079016, 90079027, 90079679-90079682, 90079820, 90101243, 90144611, 90398036-90398050 |
| 511 | WDR36 | 5 | 0.9968487394958 | 9 | 2856 | 110448804-110448812 |
| 512 | APC | 5 | 0.99800750117206 | 17 | 8532 | 112111326, 112111353, 112116576, 112170701, 112170819, 112174717-112174719, 112174792, 112174952, 112176016, 112176028, 112176435, 112176472, 112179144-112179146 |
| 513 | LMNB1 | 5 | 0.92106757524134 | 139 | 1761 | 126113207-126113234, 126113302-126113328, 126113388-126113393, 126113426, 126113429, 126113444-126113489, 126113494-126113501, 126113509, 126113526-126113530, 126113533-126113534, 126113546-126113559 |
| 514 | FBN2 | 5 | 0.9991989930198 | 7 | 8739 | 127873071-127873077 |
| 515 | SLC22A5 | 5 | 0.99641577060932 | 6 | 1674 | 131706017-131706022 |
| 516 | TGFBI | 5 | 0.99269005847953 | 15 | 2052 | 135391450-135391464 |
| 517 | MYOT | 5 | 0.96058784235137 | 59 | 1497 | 137213220, 137213264-137213270, 137217783, 137221807, 137221833-137221835, 137221851, 137221854-137221859, 137221864, 137221885-137221902, 137222927, 137222948-137222950, 137222966-137222980, 137222993 |
| 518 | DIAPH1 | 5 | 0.99214454045562 | 30 | 3819 | 140998369, 140998372-140998379, 140998431-140998447, 140998475-140998477, 140998481 |
| 519 | PPP2R2B | 5 | 0.99024024024024 | 13 | 1332 | 146257565-146257576, 146257614 |
| 520 | SH3TC2 | 5 | 0.99844840961986 | 6 | 3867 | 148406222-148406225, 148407408, 148408020 |
| 521 | GLRA1 | 5 | 0.99344978165939 | 9 | 1374 | 151304055-151304063 |
| 522 | SQSTM1 | 5 | 0.88359788359788 | 154 | 1323 | 179247937-179247991, 179248013-179248015, 179248039-179248072, 179248080-179248141 |
| 523 | FLT4 | 5 | 0.79227761485826 | 850 | 4092 | 180041114, 180043388-180043397, 180043406-180043489, 180043929, 180043949-180043976, 180045770-180045790, 180045803-180045920, 180046021-180046078, 180046089-180046109, 180046253-180046366, 180046665-180046715, 180046746, 180046749, 180047222, 180047626, 180047707-180047712, 180047898, 180047922, 180048148, 180048151, 180048155-180048156, 180048180-180048204, 180048580, 180048633, 180048727, 180051044-180051050, 180051058, 180052875, 180052996, 180053019-180053031, 180053200-180053223, 180055973, 180055985, 180056310-180056317, 180056331-180056341, 180056344-180056346, 180056364-180056370, 180056411, 180056712, 180056715, 180056718-180056720, 180056723, 180056780-180056795, 180056806, 180056819-180056823, 180056958, 180056998-180057054, 180057077, 180057294, 180057300, 180057575-180057596, 180057630-180057642, 180057649, 180057699, 180057759-180057791, 180058701, 180058730, 180058757, 180076488-180076545 |
| 524 | FOXC1 | 6 | 0.99939831528279 | 1 | 1662 | 1612019 |
| 525 | TUBB2B | 6 | 0.98579970104634 | 19 | 1338 | 3225033-3225049, 3225295, 3225456 |
| 526 | F13A1 | 6 | 0.99772623919964 | 5 | 2199 | 6197547-6197551 |
| 527 | DTNBP1 | 6 | 0.99810606060606 | 2 | 1056 | 15663063-15663064 |
| 528 | ATXN1 | 6 | 0.99714052287582 | 7 | 2448 | 16327865-16327867, 16327915-16327918 |
| 529 | NHLRC1 | 6 | 0.99915824915825 | 1 | 1188 | 18122687 |
| 530 | ALDH5A1 | 6 | 0.99817850637523 | 3 | 1647 | 24495339-24495341 |
| 531 | HLA-H | 6 | 0.936 | 48 | 750 | 29856423-29856430, 29856513-29856549, 29856633, 29856643, 29856655 |
| 532 | TNXB | 6 | 0.94867807153966 | 99 | 1929 | 31976899, 31976916, 31976926, 31977388-31977394, 31977528, 31977538, 31977552, 31977835-31977841, 31977994-31978001, 31978498-31978535, 31979425, 31979452-31979482, 31980133 |
| 533 | CYP21A2 | 6 | 0.95833333333333 | 62 | 1488 | 32006200-32006237, 32006317, 32006337, 32006886, 32007846-32007852, 32008448-32008454, 32008901-32008907 |
| 534 | TNXB | 6 | 0.99120119412365 | 112 | 12729 | 32009631-32009664, 32010123-32010129, 32010269-32010275, 32010569-32010575, 32010728-32010735, 32011232-32011269, 32012279, 32012330-32012336, 32012987, 32026106-32026107 |
| 535 | HLA-DQA1 | 6 | 0.88020833333333 | 92 | 768 | 32609094-32609129, 32609144-32609150, 32609207, 32609212-32609213, 32609216, 32609221-32609222, 32609227-32609228, 32609231-32609233, 32609236, 32609239-32609241, 32609253-32609255, 32609264, 32609271, 32609278-32609279, 32609286, 32609299, 32609312, 32609749, 32609855, 32610387-32610406, 32610417, 32610436 |
| 536 | HLA-DQB1 | 6 | 0.47837150127226 | 410 | 786 | 32629129, 32629139-32629149, 32629175-32629202, 32629224-32629234, 32629803-32629811, 32629834-32629884, 32629887-32629889, 32629904-32629905, 32629928-32629968, 32630024-32630025, 32632575-32632663, 32632675-32632694, 32632707-32632774, 32632779-32632783, 32632786, 32632803-32632844, 32634300-32634309, 32634345-32634357, 32634369, 32634373, 32634380 |
| 537 | SYNGAP1 | 6 | 0.96230158730159 | 152 | 4032 | 33388042-33388108, 33393576-33393591, 33393594-33393604, 33393623-33393659, 33393666-33393674, 33400556, 33400582, 33405777-33405783, 33405786-33405788 |
| 538 | FANCE | 6 | 0.97020484171322 | 48 | 1611 | 35420409-35420433, 35420447, 35420476-35420483, 35423790-35423803 |
| 539 | MOCS1 | 6 | 0.7854526425955 | 410 | 1911 | 39893422-39893499, 39893508-39893589, 39895068-39895317 |
| 540 | PEX6 | 6 | 0.99150526673462 | 25 | 2943 | 42946124-42946133, 42946532-42946540, 42946660-42946664, 42946847 |
| 541 | CUL7 | 6 | 0.99960761232097 | 2 | 5097 | 43008790, 43016160 |
| 542 | RSPH9 | 6 | 0.98916967509025 | 9 | 831 | 43612846-43612854 |
| 543 | RUNX2 | 6 | 0.99297573435504 | 11 | 1566 | 45390471-45390474, 45390481, 45390484-45390489 |
| 544 | CD2AP | 6 | 0.99739583333333 | 5 | 1920 | 47501485-47501489 |
| 545 | MUT | 6 | 0.994229915668 | 13 | 2253 | 49403294, 49425406, 49425521, 49425762-49425771 |
| 546 | PKHD1 | 6 | 0.98732106339468 | 155 | 12225 | 51748010-51748016, 51889470-51889471, 51889477-51889481, 51889527-51889532, 51889536-51889548, 51889722, 51889775, 51889779-51889782, 51890057-51890060, 51890070, 51890074-51890076, 51890136-51890143, 51890179-51890184, 51890860-51890884, 51892668-51892670, 51892675, 51892954-51892986, 51892997-51893028 |
| 547 | EFHC1 | 6 | 0.99219968798752 | 15 | 1923 | 52303361-52303375 |
| 548 | EYS | 6 | 0.98537360890302 | 138 | 9435 | 64709005, 65016922, 65016926, 66044873-66044888, 66044910-66044915, 66044918-66044921, 66044928, 66044932, 66044942, 66044951-66044984, 66044995-66045039, 66053950-66053975, 66115096 |
| 549 | COL9A1 | 6 | 0.99204627621114 | 22 | 2766 | 70952365-70952386 |
| 550 | RIMS1 | 6 | 0.96101594802126 | 198 | 5079 | 72892289-72892300, 72892787-72892789, 72947567-72947572, 72952116-72952121, 72962497, 73000489-73000514, 73001656-73001697, 73017002-73017016, 73017019-73017020, 73023241-73023242, 73023246, 73023332-73023336, 73023343, 73043532, 73043538, 73100396-73100403, 73102424-73102459, 73108745-73108747, 73108785, 73108794-73108796, 73110198-73110220 |
| 551 | SLC17A5 | 6 | 0.99798387096774 | 3 | 1488 | 74351443, 74351446, 74363561 |
| 552 | MYO6 | 6 | 0.99403836184552 | 23 | 3858 | 76564958-76564961, 76572383-76572401 |
| 553 | LCA5 | 6 | 0.95367717287488 | 97 | 2094 | 80196765-80196782, 80201325-80201328, 80202318, 80222940-80222957, 80222966-80222973, 80223018-80223019, 80223036, 80223039-80223043, 80223090, 80223207, 80223305-80223320, 80223406-80223427 |
| 554 | ELOVL4 | 6 | 0.9989417989418 | 1 | 945 | 80656953 |
| 555 | SLC35A1 | 6 | 0.99901380670611 | 1 | 1014 | 88210324 |
| 556 | RARS2 | 6 | 0.98100172711572 | 33 | 1737 | 88228568, 88240511-88240521, 88240648-88240660, 88265146-88265153 |
| 557 | NDUFAF4 | 6 | 0.95833333333333 | 22 | 528 | 97339104, 97339136-97339150, 97345553-97345558 |
| 558 | SIM1 | 6 | 0.99956540634507 | 1 | 2301 | 100838489 |
| 559 | SEC63 | 6 | 0.99211563731932 | 18 | 2283 | 108214751-108214768 |
| 560 | OSTM1 | 6 | 0.9771144278607 | 23 | 1005 | 108395590-108395598, 108395728-108395731, 108395740-108395748, 108395758 |
| 561 | FIG4 | 6 | 0.99779735682819 | 6 | 2724 | 110053840-110053841, 110112740-110112741, 110118047-110118048 |
| 562 | COL10A1 | 6 | 0.99755261869799 | 5 | 2043 | 116442065-116442066, 116442409-116442410, 116446576 |
| 563 | RSPH4A | 6 | 0.98884239888424 | 24 | 2151 | 116951634-116951636, 116951708-116951715, 116953421-116953426, 116953517-116953523 |
| 564 | LAMA2 | 6 | 0.98867884225142 | 106 | 9363 | 129498907-129498908, 129498927, 129511389-129511390, 129513893, 129513914-129513915, 129609013, 129618869-129618875, 129618915, 129618975-129618976, 129634161-129634164, 129634191, 129634197, 129634206, 129634215, 129635800-129635805, 129635831, 129635855, 129635869-129635870, 129635885-129635900, 129635926-129635940, 129637032, 129704293-129704315, 129704341-129704348, 129781415-129781419, 129781422 |
| 565 | ENPP1 | 6 | 0.99784017278618 | 6 | 2778 | 132129210-132129215 |
| 566 | EYA4 | 6 | 0.87135416666667 | 247 | 1920 | 133767795, 133767800-133767809, 133767858-133767865, 133767874, 133769264-133769317, 133777694-133777696, 133777715-133777753, 133777775-133777786, 133782282-133782311, 133783539-133783562, 133783577-133783612, 133785956, 133785960-133785978, 133833875, 133836467-133836474 |
| 567 | AHI1 | 6 | 0.99387357282094 | 22 | 3591 | 135621681-135621696, 135776971, 135777028, 135777032-135777034, 135777040 |
| 568 | STX11 | 6 | 0.99768518518519 | 2 | 864 | 144507953-144507954 |
| 569 | EPM2A | 6 | 0.90963855421687 | 90 | 996 | 146056345-146056351, 146056417-146056437, 146056476, 146056480-146056508, 146056520-146056522, 146056575-146056603 |
| 570 | SYNE1 | 6 | 0.99859816624991 | 37 | 26394 | 152576773, 152577836, 152589220-152589224, 152671779-152671782, 152751646-152751670, 152751816 |
| 571 | PARK2 | 6 | 0.99785407725322 | 3 | 1398 | 162864372-162864374 |
| 572 | TBP | 6 | 0.90196078431373 | 100 | 1020 | 170871010-170871109 |
| 573 | LFNG | 7 | 0.89210526315789 | 123 | 1140 | 2559496-2559499, 2559518-2559556, 2559568, 2559571-2559623, 2559646, 2559649-2559663, 2559671, 2559674, 2559888-2559895 |
| 574 | PMS2 | 7 | 0.85901892622634 | 365 | 2589 | 6013045-6013052, 6026530, 6026905-6026911, 6026999-6027039, 6027153-6027168, 6042120-6042174, 6042189-6042229, 6043321-6043322, 6043329-6043358, 6043366-6043419, 6045523-6045581, 6045612-6045662 |
| 575 | TWIST1 | 7 | 0.22495894909688 | 472 | 609 | 19156364, 19156371-19156375, 19156379-19156403, 19156409, 19156448-19156449, 19156484, 19156493, 19156509-19156944 |
| 576 | DNAH11 | 7 | 0.99948423224285 | 7 | 13572 | 21582969-21582971, 21646096, 21646283-21646284, 21646337 |
| 577 | FAM126A | 7 | 0.99553001277139 | 7 | 1566 | 22985326, 23004070-23004075 |
| 578 | KLHL7 | 7 | 0.95002839295855 | 88 | 1761 | 23164717-23164731, 23205461-23205462, 23205469-23205471, 23205492-23205540, 23207483-23207500, 23207592 |
| 579 | HOXA1 | 7 | 0.99702380952381 | 3 | 1008 | 27135317-27135319 |
| 580 | HOXA13 | 7 | 0.83890317052271 | 188 | 1167 | 27239295-27239407, 27239452-27239455, 27239458-27239472, 27239551-27239582, 27239603-27239626 |
| 581 | GARS | 7 | 0.97027027027027 | 66 | 2220 | 30634567-30634602, 30634630, 30634640-30634650, 30634660-30634661, 30634717, 30634727-30634741 |
| 582 | RP9 | 7 | 0.93693693693694 | 42 | 666 | 33148918-33148959 |
| 583 | TXNDC3 | 7 | 0.99943406904358 | 1 | 1767 | 37936530 |
| 584 | CCM2 | 7 | 0.95280898876404 | 63 | 1335 | 45039933-45039962, 45113137-45113139, 45113897, 45113901-45113918, 45113932, 45115647-45115656 |
| 585 | EGFR | 7 | 0.97825488576934 | 79 | 3633 | 55086978-55087056 |
| 586 | ASL | 7 | 0.99928315412186 | 1 | 1395 | 65553811 |
| 587 | KCTD7 | 7 | 0.92528735632184 | 65 | 870 | 66094052-66094058, 66094090-66094132, 66094170-66094184 |
| 588 | SBDS | 7 | 0.95484727755644 | 34 | 753 | 66453358-66453372, 66453470, 66456147-66456164 |
| 589 | NCF1 | 7 | 0.89939393939394 | 83 | 825 | 72639957-72639989, 72640032-72640039, 72643642-72643648, 72648669-72648703 |
| 590 | ELN | 7 | 0.95540229885057 | 97 | 2175 | 73442567, 73442572, 73442576-73442581, 73466088-73466102, 73466153-73466168, 73466254-73466299, 73470617, 73471014-73471015, 73474226, 73474273, 73474290, 73474725, 73475467, 73477553-73477554, 73477973, 73480282 |
| 591 | NCF1 | 7 | 0.94202898550725 | 68 | 1173 | 74193664-74193671, 74197313-74197329, 74202349-74202383, 74202930-74202936, 74203007 |
| 592 | POR | 7 | 0.15075868820362 | 1735 | 2043 | 75608769-75608856, 75608866-75608872, 75609657-75609806, 75610366-75610490, 75610835-75610861, 75610875-75610924, 75611542-75611577, 75611594-75611640, 75612838-75612946, 75613056-75613174, 75614095-75614276, 75614376-75614525, 75614897-75615167, 75615241-75615386, 75615477-75615559, 75615655-75615799 |
| 593 | HGF | 7 | 0.98536808413352 | 32 | 2187 | 81334808-81334833, 81335036-81335037, 81335040, 81335069, 81335647, 81335686 |
| 594 | ABCB4 | 7 | 0.99973958333333 | 1 | 3840 | 87082451 |
| 595 | AKAP9 | 7 | 0.99709996588195 | 34 | 11724 | 91630229, 91630334, 91652271, 91652277, 91667845, 91667852, 91670187, 91671362, 91672076, 91674433, 91674441, 91700219-91700240, 91714888 |
| 596 | KRIT1 | 7 | 0.99095431931253 | 20 | 2211 | 91851234-91851242, 91851295-91851304, 91852200 |
| 597 | PEX1 | 7 | 0.99428868120457 | 22 | 3852 | 92140929, 92140943-92140955, 92143232, 92157654-92157660 |
| 598 | COL1A2 | 7 | 0.99951231406974 | 2 | 4101 | 94030908, 94033868 |
| 599 | TFR2 | 7 | 0.99376558603491 | 15 | 2406 | 100230637-100230643, 100231043, 100231077, 100231138-100231140, 100238654-100238656 |
| 600 | SLC26A5 | 7 | 0.99597315436242 | 9 | 2235 | 103018141-103018142, 103018980-103018983, 103030928-103030930 |
| 601 | RELN | 7 | 0.98853233111689 | 119 | 10377 | 103143599-103143642, 103191621-103191628, 103193908, 103194009-103194010, 103194127-103194135, 103194220-103194222, 103194233, 103236920, 103236979-103236982, 103236989, 103236995, 103243764, 103243871-103243875, 103244843-103244849, 103244893-103244910, 103417018-103417028, 103474055, 103474059 |
| 602 | SLC26A3 | 7 | 0.99564270152505 | 10 | 2295 | 107414410-107414411, 107414413-107414419, 107432368 |
| 603 | MET | 7 | 0.97244188832974 | 115 | 4173 | 116395409-116395445, 116395484-116395509, 116395560-116395561, 116395565-116395566, 116397555-116397561, 116397567-116397568, 116397708-116397712, 116397778-116397788, 116398643, 116398661, 116399503-116399513, 116411638-116411647 |
| 604 | CFTR | 7 | 0.98424487958587 | 70 | 4443 | 117188733-117188766, 117188847-117188853, 117199533, 117230440, 117232198-117232202, 117232217, 117232245-117232251, 117232256, 117232259-117232266, 117232277, 117232428, 117232487, 117232673, 117235029 |
| 605 | AASS | 7 | 0.99964041711615 | 1 | 2781 | 121719656 |
| 606 | IMPDH1 | 7 | 0.97444444444444 | 46 | 1800 | 128035292-128035293, 128038487-128038489, 128049880-128049919, 128049954 |
| 607 | ATP6V0A4 | 7 | 0.99960364645264 | 1 | 2523 | 138455988 |
| 608 | BRAF | 7 | 0.93785310734463 | 143 | 2301 | 140449087, 140449098, 140453094-140453121, 140453189, 140624366-140624376, 140624388, 140624394, 140624397-140624495 |
| 609 | CLCN1 | 7 | 0.99966295921807 | 1 | 2967 | 143043240 |
| 610 | CNTNAP2 | 7 | 0.98748748748749 | 50 | 3996 | 145813975-145813978, 145813982, 145813989, 145813993-145813996, 145814006-145814037, 146471418, 147092708-147092714 |
| 611 | KCNH2 | 7 | 0.94597701149425 | 188 | 3480 | 150655213-150655214, 150656675-150656689, 150671837-150671916, 150671940-150671941, 150671962-150671974, 150672011-150672028, 150674931-150674933, 150674936-150674985, 150674997-150675001 |
| 612 | SHH | 7 | 0.77609791216703 | 311 | 1389 | 155595603-155595663, 155595674-155595704, 155595720-155595724, 155595746-155595785, 155595799-155595810, 155595815, 155595820, 155595825, 155595829, 155595840-155595868, 155595887-155595894, 155595897-155595904, 155595931-155595957, 155595961-155595964, 155596033-155596067, 155596080, 155596089-155596093, 155596122-155596158, 155596170, 155596215-155596216, 155596357 |
| 613 | MNX1 | 7 | 0.63681592039801 | 438 | 1206 | 156799265-156799269, 156802470-156802479, 156802506, 156802536, 156802598-156802606, 156802626-156802864, 156802872-156803044 |
| 614 | MCPH1 | 8 | 0.99960127591707 | 1 | 2508 | 6479076 |
| 615 | TUSC3 | 8 | 0.99522445081184 | 5 | 1047 | 15398006, 15398015, 15398027-15398029 |
| 616 | ASAH1 | 8 | 0.97053872053872 | 35 | 1188 | 17941497-17941503, 17941505-17941532 |
| 617 | THAP1 | 8 | 0.99532710280374 | 3 | 642 | 42698184, 42698212, 42698215 |
| 618 | HGSNAT | 8 | 0.99947589098532 | 1 | 1908 | 42995689 |
| 619 | RP1 | 8 | 0.99876371503632 | 8 | 6471 | 55533917-55533924 |
| 620 | CHD7 | 8 | 0.98243273293307 | 158 | 8994 | 61654327, 61654335-61654336, 61654407, 61654552-61654557, 61654589-61654604, 61654620-61654624, 61654752-61654762, 61655013-61655019, 61655360, 61713042-61713044, 61713047, 61734358-61734418, 61734591-61734605, 61734642-61734648, 61734674-61734694 |
| 621 | TTPA | 8 | 0.99641577060932 | 3 | 837 | 63998462, 63998483, 63998521 |
| 622 | CYP7B1 | 8 | 0.99211045364892 | 12 | 1521 | 65528742-65528753 |
| 623 | TMEM70 | 8 | 0.79693486590038 | 159 | 783 | 74888523-74888582, 74888592, 74888595, 74888598-74888602, 74888612, 74888636-74888726 |
| 624 | GDAP1 | 8 | 0.99907149489322 | 1 | 1077 | 75262798 |
| 625 | CA2 | 8 | 0.99872286079183 | 1 | 783 | 86376314 |
| 626 | NBN | 8 | 0.99955849889625 | 1 | 2265 | 90996766 |
| 627 | DECR1 | 8 | 0.99801587301587 | 2 | 1008 | 91049094, 91057189 |
| 628 | TMEM67 | 8 | 0.98862115127175 | 34 | 2988 | 94817014-94817019, 94822092-94822115, 94827547, 94827620, 94827642, 94828625 |
| 629 | VPS13B | 8 | 0.99358012339503 | 77 | 11994 | 100123412-100123416, 100123449, 100123452, 100123459, 100127940-100127953, 100146890-100146933, 100147923, 100160137, 100533220-100533228 |
| 630 | GRHL2 | 8 | 0.99840255591054 | 3 | 1878 | 102555628-102555630 |
| 631 | TRPS1 | 8 | 0.9997425997426 | 1 | 3885 | 116616692 |
| 632 | TNFRSF11B | 8 | 0.98009950248756 | 24 | 1206 | 119936685-119936693, 119936999-119937001, 119938763-119938764, 119938909-119938916, 119941069, 119945301 |
| 633 | KCNQ3 | 8 | 0.99656357388316 | 9 | 2619 | 133492553, 133492749-133492756 |
| 634 | SLURP1 | 8 | 0.92628205128205 | 23 | 312 | 143822587-143822599, 143822640, 143822676-143822677, 143823316-143823319, 143823340, 143823746-143823747 |
| 635 | CYP11B1 | 8 | 0.93716931216931 | 95 | 1512 | 143958513-143958533, 143958572-143958602, 143960505-143960511, 143960577-143960580, 143960597, 143961115-143961125, 143961157-143961176 |
| 636 | CYP11B2 | 8 | 0.98082010582011 | 29 | 1512 | 143996174-143996180, 143996536-143996556, 143999066 |
| 637 | PLEC | 8 | 0.98882959800783 | 157 | 14055 | 144997102-144997103, 144998865, 144998908, 144998912-144998926, 144999069-144999094, 144999236-144999241, 144999257, 144999285, 144999498, 144999763-144999769, 144999819-144999826, 144999985-144999986, 145000014-145000046, 145001734, 145003836, 145003843, 145006140-145006156, 145006184, 145006196-145006197, 145006317-145006337, 145006342, 145006816-145006818, 145006823, 145009241-145009243, 145009266 |
| 638 | GPT | 8 | 0.79342723004695 | 308 | 1491 | 145730737-145730749, 145731231-145731244, 145731247-145731249, 145731268-145731310, 145731389-145731415, 145731432-145731480, 145731615-145731637, 145731668, 145731671, 145731680, 145731700-145731716, 145731726-145731753, 145731989-145732039, 145732155-145732189, 145732306, 145732383 |
| 639 | RECQL4 | 8 | 0.59636062861869 | 1464 | 3627 | 145736814-145736815, 145736839, 145736842-145736860, 145736907-145736908, 145736914, 145736921-145736927, 145737077-145737120, 145737132-145737158, 145737297-145737300, 145737329-145737330, 145737336-145737337, 145737340-145737341, 145737346, 145737352, 145737357-145737366, 145737369-145737373, 145737392-145737422, 145737438-145737450, 145737532-145737558, 145737566-145737632, 145737649-145737659, 145737697, 145737775-145737780, 145737796-145737797, 145737799-145737800, 145737804, 145737806-145737924, 145737935, 145738025-145738046, 145738099, 145738136-145738154, 145738230-145738272, 145738283-145738305, 145738341-145738381, 145738400-145738449, 145738482-145738494, 145738518-145738521, 145738621-145738662, 145738670-145738768, 145738770-145738812, 145738822, 145738837-145738864, 145738955-145739002, 145739009-145739096, 145739319-145739332, 145739373-145739404, 145739422-145739454, 145739573-145739584, 145739681, 145739827, 145739853-145739874, 145740322-145740352, 145740376-145740388, 145740394, 145740401-145740403, 145740549-145740553, 145740710-145740711, 145740799, 145741188-145741189, 145741414, 145741452-145741467, 145741509, 145741525, 145741652-145741653, 145741688-145741722, 145741761-145741779, 145741834, 145741882-145741903, 145741925-145741961, 145742001-145742008, 145742029-145742054, 145742434-145742466, 145742488, 145742514, 145742528, 145742557-145742574, 145742832-145742835, 145742991-145743015, 145743091-145743153 |
| 640 | DOCK8 | 9 | 0.99666666666667 | 21 | 6300 | 215003-215016, 399213-399219 |
| 641 | VLDLR | 9 | 0.98932112890923 | 28 | 2622 | 2622219-2622246 |
| 642 | KCNV2 | 9 | 0.99023199023199 | 16 | 1638 | 2718963-2718978 |
| 643 | GLIS3 | 9 | 0.97099892588614 | 81 | 2793 | 4117808-4117818, 4117930-4117939, 4118022, 4118380-4118383, 4286075-4286105, 4286139-4286153, 4286158, 4286347-4286352, 4286408, 4286418 |
| 644 | JAK2 | 9 | 0.9997057958223 | 1 | 3399 | 5077491 |
| 645 | CDKN2A | 9 | 0.99616858237548 | 2 | 522 | 21994278, 21994425 |
| 646 | APTX | 9 | 0.99611273080661 | 4 | 1029 | 32973502, 32973553-32973555 |
| 647 | B4GALT1 | 9 | 0.99582289055973 | 5 | 1197 | 33167028, 33167092-33167095 |
| 648 | NPR2 | 9 | 0.99204834605598 | 25 | 3144 | 35792427-35792438, 35792602-35792610, 35792761-35792764 |
| 649 | GRHPR | 9 | 0.99898682877406 | 1 | 987 | 37429814 |
| 650 | TMC1 | 9 | 0.99780989925537 | 5 | 2283 | 75435802-75435805, 75435973 |
| 651 | TRPM6 | 9 | 0.99835228208931 | 10 | 6069 | 77411683-77411684, 77411688-77411690, 77442845-77442849 |
| 652 | VPS13A | 9 | 0.99349081364829 | 62 | 9525 | 79898356-79898357, 79931246-79931252, 79931257-79931258, 79933381-79933383, 79952443-79952447, 79971704, 79972699-79972713, 79972729-79972740, 79981745-79981758, 80018185 |
| 653 | AUH | 9 | 0.99901960784314 | 1 | 1020 | 94124163 |
| 654 | ROR2 | 9 | 0.98340395480226 | 47 | 2832 | 94712171-94712194, 94712223-94712245 |
| 655 | PTCH1 | 9 | 0.9926335174954 | 32 | 4344 | 98270499, 98270590-98270620 |
| 656 | FOXE1 | 9 | 0.97682709447415 | 26 | 1122 | 100616697, 100616700-100616718, 100616721, 100616882-100616883, 100617139-100617141 |
| 657 | TGFBR1 | 9 | 0.95238095238095 | 72 | 1512 | 101867493-101867501, 101867520-101867582 |
| 658 | INVS | 9 | 0.99906191369606 | 3 | 3198 | 103027188-103027190 |
| 659 | ABCA1 | 9 | 0.99867374005305 | 9 | 6786 | 107556725-107556731, 107556790-107556791 |
| 660 | FKTN | 9 | 0.96897546897547 | 43 | 1386 | 108337314-108337317, 108337321-108337327, 108337336-108337342, 108337393, 108337397-108337413, 108363446-108363452 |
| 661 | IKBKAP | 9 | 0.99374843710928 | 25 | 3999 | 111653596, 111656345-111656346, 111658847-111658853, 111660848-111660861, 111660968 |
| 662 | MUSK | 9 | 0.9544061302682 | 119 | 2610 | 113444963, 113445019-113445028, 113445076, 113449462-113449500, 113457768-113457802, 113459660-113459663, 113459718-113459746 |
| 663 | DFNB31 | 9 | 0.99596182085169 | 11 | 2724 | 117266931-117266941 |
| 664 | CDK5RAP2 | 9 | 0.99982400563182 | 1 | 5682 | 123342222 |
| 665 | NR5A1 | 9 | 0.99206349206349 | 11 | 1386 | 127265656-127265658, 127265667-127265674 |
| 666 | STXBP1 | 9 | 0.99944812362031 | 1 | 1812 | 130374708 |
| 667 | GLE1 | 9 | 0.99713876967096 | 6 | 2097 | 131285938-131285941, 131287507, 131287635 |
| 668 | TOR1A | 9 | 0.99299299299299 | 7 | 999 | 132586272-132586278 |
| 669 | POMT1 | 9 | 0.97750229568411 | 49 | 2178 | 134390862, 134394230, 134394233-134394234, 134394253-134394278, 134394327-134394344, 134394833 |
| 670 | SETX | 9 | 0.98269853124222 | 139 | 8034 | 135139709, 135139865, 135139869-135139889, 135140180-135140190, 135140311, 135153495, 135153563-135153564, 135158701-135158705, 135158728, 135158760-135158782, 135171283-135171328, 135172293, 135172311, 135173467-135173470, 135224685-135224703, 135224715 |
| 671 | TTF1 | 9 | 0.99779249448124 | 6 | 2718 | 135267470-135267474, 135273607 |
| 672 | CEL | 9 | 0.86349625715544 | 310 | 2271 | 135944524, 135946654-135946878, 135946884-135946900, 135946938-135946971, 135946984-135946999, 135947085-135947101 |
| 673 | ADAMTS13 | 9 | 0.95168067226891 | 207 | 4284 | 136293754-136293891, 136295059-136295090, 136295108, 136295130-136295131, 136295171-136295173, 136295177, 136295192-136295221 |
| 674 | SARDH | 9 | 0.943054044251 | 157 | 2757 | 136531894-136531900, 136531925-136531930, 136531936-136531937, 136531956-136531958, 136531972-136531973, 136535716-136535749, 136535797-136535858, 136536705-136536713, 136536792-136536793, 136536796-136536819, 136559459-136559460, 136559469-136559472 |
| 675 | COL5A1 | 9 | 0.98114917527642 | 104 | 5517 | 137534036-137534051, 137534062-137534110, 137534121-137534142, 137582766, 137693825-137693839, 137705861 |
| 676 | LHX3 | 9 | 0.9586435070306 | 50 | 1209 | 139094800-139094845, 139094874-139094877 |
| 677 | INPP5E | 9 | 0.85529715762274 | 280 | 1935 | 139326310-139326311, 139326314-139326326, 139326364-139326406, 139326996, 139327000, 139327008-139327036, 139329240, 139333136-139333142, 139333151-139333187, 139333250-139333265, 139333340-139333347, 139333350, 139333443-139333447, 139333539-139333557, 139333586-139333637, 139333673-139333701, 139333752-139333762, 139333848-139333852 |
| 678 | NOTCH1 | 9 | 0.90036515388628 | 764 | 7668 | 139390529, 139390578-139390594, 139390693-139390699, 139390898-139390910, 139391235, 139391437, 139391442-139391449, 139391474-139391476, 139391516-139391517, 139391842-139391886, 139391990, 139392009-139392010, 139395210, 139395251, 139400172-139400175, 139407549, 139407570, 139409786-139409808, 139410002-139410019, 139411734-139411740, 139412204-139412207, 139412226-139412243, 139412264, 139412271, 139412321-139412327, 139412365, 139412617-139412637, 139412722-139412738, 139413043-139413085, 139413105-139413119, 139413153, 139413170-139413171, 139413217, 139413243, 139413247, 139413907, 139413928, 139413996-139414005, 139417302-139417375, 139417395-139417441, 139417469-139417470, 139417478-139417481, 139417492-139417525, 139417533-139417550, 139417560-139417585, 139417596-139417640, 139418169-139418269, 139418290-139418305, 139418332-139418344, 139418395-139418431, 139440182-139440224, 139440234 |
| 679 | AGPAT2 | 9 | 0.84348864994026 | 131 | 837 | 139581632-139581701, 139581736-139581792, 139581804-139581807 |
| 680 | SLC34A3 | 9 | 0.93444444444444 | 118 | 1800 | 140128585-140128634, 140128695, 140130435-140130438, 140130447, 140130485-140130511, 140130547-140130570, 140130724, 140130729, 140130768-140130776 |
| 681 | EHMT1 | 9 | 0.9153194765204 | 330 | 3897 | 140513484-140513492, 140605449-140605473, 140611078-140611112, 140611141-140611166, 140611185, 140611254-140611255, 140611297, 140611332-140611342, 140611369-140611372, 140611375, 140611489-140611497, 140611525-140611529, 140611576, 140611596-140611597, 140611606-140611608, 140611612, 140669561-140669603, 140669681-140669687, 140671126, 140671233-140671248, 140671266-140671279, 140672357-140672375, 140672389-140672427, 140672430-140672431, 140672450-140672464, 140672498-140672499, 140674128-140674163 |
| 682 | SHOX | X | 0.83390216154721 | 146 | 879 | 591633-591638, 591650, 591689-591721, 591729-591738, 591772-591815, 591873-591875, 595353-595365, 595449-595478, 595536-595541 |
| 683 | CSF2RA | X | 0.33869731800766 | 863 | 1305 | 1401597-1401672, 1404671-1404757, 1404766-1404813, 1407423-1407470, 1407495-1407521, 1407670-1407680, 1407683-1407733, 1407759, 1407762-1407777, 1409267, 1409320-1409336, 1409373, 1413221-1413354, 1414320-1414349, 1419384-1419417, 1419422, 1419463-1419519, 1422154-1422245, 1422816-1422881, 1422891-1422912, 1424339-1424343, 1424392-1424420, 1428302, 1428305-1428308, 1428351-1428354 |
| 684 | NLGN4X | X | 0.99143206854345 | 21 | 2451 | 5810999-5811012, 5811138-5811141, 5811260-5811262 |
| 685 | MID1 | X | 0.99800399201597 | 4 | 2004 | 10442698-10442701 |
| 686 | CDKL5 | X | 0.99935337859683 | 2 | 3093 | 18593487-18593488 |
| 687 | SMS | X | 0.99636693914623 | 4 | 1101 | 21958946-21958949 |
| 688 | ARX | X | 0.97039668442866 | 50 | 1689 | 25022982-25022984, 25025356-25025361, 25031653-25031659, 25031662-25031670, 25031775-25031786, 25031829-25031841 |
| 689 | IL1RAPL1 | X | 0.99665231946437 | 7 | 2091 | 29414426-29414432 |
| 690 | RPGR | X | 0.87135010118531 | 445 | 3459 | 38144809-38144814, 38145131-38145132, 38145181-38145183, 38145186-38145188, 38145191, 38145199-38145200, 38145214-38145215, 38145218-38145219, 38145225, 38145277, 38145281, 38145291, 38145299-38145300, 38145308, 38145386-38145754, 38145801-38145806, 38145833-38145844, 38145882-38145911 |
| 691 | BMP15 | X | 0.99659863945578 | 4 | 1176 | 50659562-50659564, 50659567 |
| 692 | ALAS2 | X | 0.99659863945578 | 6 | 1764 | 55040039-55040044 |
| 693 | AR | X | 0.97430329352153 | 71 | 2763 | 66765159-66765221, 66766357-66766359, 66766365, 66766372, 66766375, 66766378, 66766393 |
| 694 | OPHN1 | X | 0.99792444997924 | 5 | 2409 | 67331718-67331722 |
| 695 | IGBP1 | X | 0.96470588235294 | 36 | 1020 | 69353806-69353810, 69354626-69354629, 69366538-69366541, 69366569-69366579, 69366606-69366610, 69368682-69368688 |
| 696 | DLG3 | X | 0.99959250203749 | 1 | 2454 | 69665073 |
| 697 | TAF1 | X | 0.99084829285463 | 52 | 5682 | 70586165, 70586180-70586181, 70586191-70586226, 70586246-70586250, 70586289, 70586292-70586293, 70586308-70586311, 70596968 |
| 698 | SLC16A2 | X | 0.99945711183496 | 1 | 1842 | 73641569 |
| 699 | BRWD3 | X | 0.99833610648918 | 9 | 5409 | 80064962-80064970 |
| 700 | ZNF711 | X | 0.84033245844269 | 365 | 2286 | 84523321, 84525021, 84525042-84525074, 84525113-84525122, 84525657-84525676, 84525696-84525719, 84525744-84525780, 84525835-84525837, 84525934-84526020, 84526044-84526056, 84526062-84526064, 84526264-84526270, 84526297-84526323, 84526379-84526420, 84526449-84526462, 84526493-84526496, 84526548-84526549, 84526624-84526658, 84526833-84526834 |
| 701 | SRPX2 | X | 0.99856938483548 | 2 | 1398 | 99920347-99920348 |
| 702 | PAK3 | X | 0.95639701663798 | 76 | 1743 | 110435841-110435846, 110437562, 110437616-110437622, 110439122-110439124, 110439673-110439689, 110439712-110439742, 110439822-110439832 |
| 703 | OCRL | X | 0.9929785661493 | 19 | 2706 | 128674422-128674431, 128674441-128674444, 128674739-128674743 |
| 704 | GPC3 | X | 0.99024670109007 | 17 | 1743 | 132795843-132795859 |
| 705 | FHL1 | X | 0.99279835390947 | 7 | 972 | 135291469-135291475 |
| 706 | MECP2 | X | 0.97728790915164 | 34 | 1497 | 153363066-153363079, 153363099-153363102, 153363105-153363120 |
| 707 | IKBKG | X | 0.98975409836066 | 15 | 1464 | 153792573-153792587 |
| 708 | IKBKG | X | 0.96932515337423 | 15 | 489 | 153868340-153868354 |
| 709 | USP9Y | Y | 0.9942618675013 | 44 | 7668 | 14870437-14870438, 14870444, 14870524-14870539, 14872451-14872454, 14887443-14887445, 14888692, 14888717-14888725, 14898481-14898482, 14898548-14898550, 14903474-14903476 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 4 | CYP2C9-R144C | homozygous | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 4 | PKD1-R4276W | het unknown | 0.002 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 4 | PKD1-A4059V | het unknown | 0.057 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.779 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 4 | PKD1-I4045V | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 4 | PKD1-A3512V | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-Q1334H | het unknown | 0.325 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | KCNJ11-V337I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | KCNJ11-K23E | homozygous | 0.738 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | PAX8-F329L | het unknown | 0.020 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.018 (benign), Testable gene in GeneTests |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | FANCG-R513Q | het unknown | 0.007 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.048 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | APOB-S4338N | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-E4181K | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | het unknown | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-A618V | homozygous | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-A53V | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-V474I | homozygous | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.888 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.5 | CILP-G1166S | het unknown | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-I395T | homozygous | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | KRT5-G138E | het unknown | 0.052 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | BARD1-C557S | het unknown | 0.016 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.464 (possibly damaging) |
| 1.5 | BARD1-V507M | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) |
| 1.5 | BARD1-R378S | homozygous | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 1.5 | NOD2-P268S | homozygous | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.5 | NOD2-R702W | het unknown | 0.033 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.97 (probably damaging), Testable gene in GeneTests |
| 1.5 | MATN3-T303M | het unknown | 0.011 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.125 | SERPINA1-R247C | het unknown | 0.003 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.948 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.125 | SERPINA1-V237A | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.125 | FUT2-W154* | het unknown | 0.491 | Recessive protective | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 1.125 | FUT2-G258S | het unknown | 0.509 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 1 | TAS2R38-I296V | het unknown | 0.463 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.984 (probably damaging) |
| 1 | TAS2R38-A262V | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 1 | TAS2R38-A49P | het unknown | 0.431 | Unknown benign | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | NPHS1-N1077S | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 1 | NPHS1-R408Q | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-D621V | 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 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | GAS8-R278H | homozygous | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | 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-T85Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PIK3R6-D423G | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | TGIF1-S18L | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ADAM3A-R356W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ADAM3A-R215G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ADAM3A-F185Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | DEFB126-Q55Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DEFB126-P106Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | SPG7-T503A | homozygous | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SPG7-R688Q | homozygous | 0.142 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | KRT9-G126GSGGGFGGG | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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-H215R | het unknown | 0.296 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | homozygous | 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-Y2232C | homozygous | 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 | homozygous | 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 | homozygous | 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 | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ELAC2-S217L | het unknown | 0.273 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 1 | LRRC8E-E181G | homozygous | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | LRRC8E-M190T | homozygous | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | LRRC8E-P454R | homozygous | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging) |
| 1 | ATXN7-K264R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATXN7-V862M | het unknown | 0.394 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PCDHB6-V446A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PCDHB6-L684F | homozygous | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 1 | PCDHB6-G776D | homozygous | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | TMPRSS3-A90T | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), 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 | TRIM64-I58T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRIM64-V238M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | NR_028064-G139D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_028064-H137Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_028064-H49Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_028064-H41Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-A832G | homozygous | 0.650 | 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 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-A745Shift | homozygous | Unknown | 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 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CYP2C8-K399R | homozygous | 0.087 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | CYP2C8-R139K | homozygous | 0.087 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 1 | ALX4-R35T | homozygous | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TMEM126B-A168V | homozygous | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 1 | PARP4-L1550P | homozygous | 0.929 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PARP4-S1459Y | homozygous | 0.929 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PARP4-S1394A | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PARP4-R1108C | homozygous | 0.861 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PARP4-M936T | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PARP4-A899T | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PARP4-I81V | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ATM-D814E | het unknown | 0.006 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SSTR1-*392*ARATQGL* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | CYP3A4-M445T | het unknown | 0.006 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 1 | ACHE-H353N | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | CEP290-E277Q | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C2orf71-S1225SS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | C2orf71-L792V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CYP19A1-R264C | het unknown | 0.079 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | MLL2-P813L | homozygous | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (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 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ABCA1-K1587R | het unknown | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-I883M | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-R219K | homozygous | 0.393 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | DPYD-R29C | homozygous | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ATP7A-V767L | homozygous | 0.254 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NR_027242-C222Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L114P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | WWC3-T445M | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | CLCNKA-R83G | homozygous | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CLCNKA-Y315F | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CLCNKA-A447T | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CLCNKA-T454A | homozygous | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CLCNKA-V457I | homozygous | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CLCNKA-R534W | homozygous | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | SRPX-D42N | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging) |
| 1 | SRPX-L23Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CROCC-R918W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CROCC-E1037Q | homozygous | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 1 | CROCC-R1049H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CROCC-R1097P | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | C12orf44-D85Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ADAMTS13-R7W | homozygous | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ADAMTS13-Q448E | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ADAMTS13-P618A | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 1 | ADAMTS13-A1033T | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.712 (possibly damaging), Testable gene in GeneTests |
| 1 | ZNF598-G42Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF598-E25G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-DM13AL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ALAS2-R559H | homozygous | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | ALAS2-H523Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, 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 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | FAM58A-Q15Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | FAM58A-G4Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | CFH-V62I | het unknown | 0.392 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CFH-H402Y | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SIGLEC12-R528W | homozygous | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MECP2-E409K | homozygous | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PCDH11Y-V917F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | PCDH11Y-N1012K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | SP110-M523T | homozygous | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-L425S | het unknown | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-G299R | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-E207K | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-A128V | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-W112R | het unknown | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | C2orf83-W141* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C2orf83-E104Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | UTP14A-N753H | homozygous | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 1 | ZCCHC12-R12G | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 1 | ABCC11-H1344R | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ABCC11-N1277Y | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | ABCC11-T546M | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.275 (possibly damaging) |
| 1 | ABCC11-G180R | het unknown | 0.098 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 1 | ZNF204P-E93Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF204P-K6Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CNGA1-S3F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | XCL2-R29K | homozygous | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | XCL2-H28D | homozygous | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 1 | F5-M2148T | het unknown | 0.031 | 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 | ZNF41-I125R | homozygous | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TCEAL6-G103E | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TCEAL6-G92S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TCEAL6-K71R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TCEAL6-K63E | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TCEAL6-A38V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | het unknown | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-Q281R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-G528S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-E603Q | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.875 | MTRR-I49M | het unknown | 0.451 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.875 | MTRR-S202L | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | COMT-V158M | het unknown | 0.448 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CACNA1A-K1138Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | CACNA1A-D902E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | CHRNA5-D398N | het unknown | 0.249 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.75 | CDKN1A-S31R | het unknown | 0.133 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | EDN1-K198N | het unknown | 0.206 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.75 | AKAP10-I646V | het unknown | 0.452 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AKAP10-I405V | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.75 | AKAP10-R249H | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | DYX1C1-E417* | het unknown | 0.201 | Unknown pathogenic | Low clinical importance, uncertain | One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. |
| 0.75 | DYX1C1-V91I | homozygous | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | EFCAB5-R71* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | EFCAB5-L237V | homozygous | 0.463 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EFCAB5-I278K | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZPBP2-P68A | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZPBP2-S173I | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.688 (possibly damaging) |
| 0.5 | COX10-R159Q | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | RAI1-Q291QQQQQQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TOP3A-L584R | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | KLHDC4-L155V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | KLHDC4-T102I | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF18-F476L | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | CETP-G251V | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | CETP-V422I | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDH16-H257Y | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | FHOD1-P533L | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | ZDHHC1-R124Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.905 (probably damaging) |
| 0.5 | SALL1-N1291S | het unknown | 0.012 | 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 | SULT1A2-K282E | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SULT1A2-Y62F | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | OR2C1-C149W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR2C1-F273Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AK311524-V28A | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK311524-W181Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ABAT-Q56R | homozygous | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AQP8-A212T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.313 (possibly damaging) |
| 0.5 | AQP8-A260P | het unknown | 0.387 | 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 | GCSH-S21L | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-D387E | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.951 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L659V | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHRNB1-E32G | homozygous | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH8-R1784G | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | MYH2-V970I | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.315 (possibly damaging), Testable gene in GeneTests |
| 0.5 | MYH3-A1244V | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYH3-A1192T | het unknown | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PITPNM3-V181I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests |
| 0.5 | DHX33-R621C | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DHX33-H483D | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TAF1C-R722H | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TAF1C-Q440Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TAF1C-G429R | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TAF1C-C24Y | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA0513-R100H | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | FANCA-G809D | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-T266A | homozygous | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | SGSM2-P217R | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | LAMA1-K2002E | homozygous | 0.657 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-A1876T | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-D1682V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.656 (possibly damaging) |
| 0.5 | LAMA1-M1340V | homozygous | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | LAMA1-A886V | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.936 (probably damaging) |
| 0.5 | LAMA1-N674T | homozygous | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.167 (benign) |
| 0.5 | KRT14-C63Y | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-V693M | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-L556V | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-K751Q | het unknown | 0.319 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-D312N | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCAT2-T186R | homozygous | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PPP1R15A-A32T | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | PPP1R15A-K277E | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PPP1R15A-G312S | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.458 (possibly damaging) |
| 0.5 | PPP1R15A-A316P | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.026 (benign) |
| 0.5 | PPP1R15A-R476S | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PPP1R15A-T597A | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-N106Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF880-N140NN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF880-R198S | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-N202H | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-K471R | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HES2-P139S | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ZNF526-P298L | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | BCKDHA-P39H | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | THAP8-K112R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | THAP8-R70H | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ZNF792-N425D | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ZNF792-R177Q | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF792-Q118K | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | SPRED3-A43Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SPRED3-C138Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | EID2-E60A | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CYP2B6-Q172H | het unknown | 0.292 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | CYP2B6-K262R | het unknown | 0.043 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | FCGBP-R4909H | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | FCGBP-P4665L | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | FCGBP-H3668R | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FCGBP-S1961P | homozygous | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FCGBP-GM1616VV | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FCGBP-P1436L | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.325 (possibly damaging) |
| 0.5 | FCGBP-E845D | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | FCGBP-N770S | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging) |
| 0.5 | ZNF816-Q633* | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PRKCG-Q671H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PRKCG-PD678LN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ABCG8-Y54C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-V632A | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_027251-H75Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | LHCGR-N312S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH6-V141M | het unknown | 0.928 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH6-G1694A | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.026 (benign) |
| 0.5 | DNAH6-V2898I | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.931 (probably damaging) |
| 0.5 | FSHR-A307T | homozygous | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TTC27-R165H | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 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 | CNOT3-S245Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CNOT3-P329Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CACNG6-C252S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZNF530-T64A | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.827 (possibly damaging) |
| 0.5 | ZNF530-H110Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF530-T169M | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ZNF418-N440T | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | GCKR-L446P | homozygous | 0.679 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KLF11-Q62R | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests |
| 0.5 | TPO-A257S | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TPO-T725P | homozygous | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF708-H554R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | ZNF708-K113E | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | ZNF708-A71V | homozygous | 0.975 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NOTCH3-A2223V | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TBX4-A314V | homozygous | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TBX4-P372Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | AP1S2-T35A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | BRIP1-S919P | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GH1-V136I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AXIN2-P50S | homozygous | 0.389 | Unknown not reviewed | 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 | CACNA1G-E2317K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 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 | ITGA2B-I874S | homozygous | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | JUP-M697L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAP3K14-S140N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PLEKHM1-S706P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PLEKHM1-R619L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PLEKHM1-G472E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PLEKHM1-E457K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PLEKHM1-Y349H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PRR15L-R14Q | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | NPEPPS-M241T | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NPEPPS-R267C | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NPEPPS-G322D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NPEPPS-T475A | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | KIAA1267-P1010L | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1267-R525P | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1267-R304C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | APOH-S107N | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CACNG1-G196S | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | KISS1R-L364H | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CD226-S307G | homozygous | 0.451 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CD226-FE130SD | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | RAX2-P52L | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 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 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ICAM1-G241R | het unknown | 0.075 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.948 (probably damaging) |
| 0.5 | ICAM1-K469E | het unknown | 0.349 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LOXHD1-A2036V | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-E1623G | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-R1155G | homozygous | 0.792 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-I194F | het unknown | 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 | ABCA10-R1322Q | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.906 (probably damaging) |
| 0.5 | ABCA10-M916T | het unknown | 0.759 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCA10-P203S | het unknown | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | TSEN54-A14W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TSEN54-K347N | homozygous | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-A437V | homozygous | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-V780I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG2-I293V | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | 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 | ZNF519-R528C | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF519-K206E | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TXNDC16-E486K | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | TXNDC16-A180G | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | TARSL2-W206* | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | TARSL2-A96G | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.651 (possibly damaging) |
| 0.5 | SLC29A3-R18G | homozygous | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-S158F | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-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 | PRKG1-N267S | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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-R1347C | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-V2280I | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANXA11-R230C | homozygous | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PPRC1-T776Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PPRC1-P941Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PPRC1-R1288Q | homozygous | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | 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 | ARHGAP22-R186C | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | RYR2-R1888Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RYR2-Q2958R | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | ANKRD16-Q353R | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | ANKRD16-A128G | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | ANKRD16-G30R | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-I348V | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-R1313S | homozygous | 0.562 | 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-S1935G | het unknown | 0.145 | 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 | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDNF-W154S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CALHM1-L86P | homozygous | 0.798 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | HPS5-L417M | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC8-V1572I | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC8-A1369S | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | 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 | TMEM132A-R278Q | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | TMEM132A-E825K | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMEM132A-A970V | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MS4A5-G51E | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | FAM111B-Y132Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | TRIM22-D155N | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | TRIM22-R242T | het unknown | 0.511 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TRIM22-R321K | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | DMBT1-P42T | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | DMBT1-S54L | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.84 (possibly damaging) |
| 0.5 | DMBT1-R2338H | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | NRAP-R1566C | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.853 (probably damaging) |
| 0.5 | NRAP-I1183V | homozygous | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-R884C | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | NRAP-N519I | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | NRAP-S490L | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.092 (benign) |
| 0.5 | NRAP-Q360R | het unknown | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-A344T | het unknown | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-A282T | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-Y249C | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NRAP-R215W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | NRAP-V208A | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MKI67-I2101T | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | MKI67-R832W | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MKI67-N104S | het unknown | 0.611 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.417 (possibly damaging) |
| 0.5 | JAKMIP3-R254* | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 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 | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRDD-E687Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | LRDD-R682C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LRDD-S194F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) | |
| 0.5 | ATHL1-R122C | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | GNPAT-D519G | homozygous | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0.5 | AGT-M268T | het unknown | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGT-T207M | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | POMGNT1-M623V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NEGR1-Y347S | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | TGFBR3-H155R | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.879 (probably damaging) |
| 0.5 | RTCD1-F349* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | RTCD1-V351Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | COL9A2-T246M | het unknown | 0.025 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | A3GALT2-T106Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | LRRC38-K292E | het unknown | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRRC38-C239R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ESPN-R422W | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A214G | homozygous | 0.638 | 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 | CLCNKB-K578E | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-V4332I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-A4071V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-K3972Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | HSPG2-A1503V | het unknown | 0.694 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-N765S | homozygous | 0.933 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-M638V | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AK2-A209T | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | BAI2-R1383Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | BAI2-R96Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SEPN1-C108Y | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPN1-N467K | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1548A | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-S1547P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-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 | CASQ2-T66A | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PHLDA3-R28Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | ASPM-Q2620H | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CR2-S639N | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CR2-W707* | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | CR2-A1003E | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USH2A-V4433L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-M3868V | homozygous | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-T3835I | homozygous | 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-E3802K | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-E3411A | homozygous | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | het unknown | 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 | homozygous | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF678-C351Y | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | EPHX1-Y113H | het unknown | 0.257 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TPR-T1707A | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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-E2893G | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 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 | PGLYRP3-G126S | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PGLYRP3-R68Q | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | S100A3-V70Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | LAMC2-T124M | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LHX4-N328S | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TOR1AIP1-Q293H | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.874 (probably damaging) |
| 0.5 | TOR1AIP1-W353Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ROM1-L114Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 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 | METTL12-R40Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MTHFD1-K134R | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTHFD1-R653Q | homozygous | 0.376 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | SYNE2-M1969T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D5547N | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-I6547V | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | VTI1B-R176H | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | RDH12-R161Q | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-P844L | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-K231Q | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.07 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1457Y | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | PTCD3-V70I | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | SOS2-A208T | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-F1070S | het unknown | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-R1840W | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | FREM2-T2326I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-H2823Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ATP7B-V1140A | homozygous | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-R952K | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-K832R | homozygous | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-V456L | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-S406A | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A2-E1123G | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.919 (probably damaging) |
| 0.5 | MDP1-G153W | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | JPH4-A502Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ESRRB-P386S | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.069 (benign), Testable gene in GeneTests |
| 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 | 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 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRC1-R469Q | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.954 (probably damaging) |
| 0.5 | PRC1-A187E | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FANCI-L605F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ETFA-T171I | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZFYVE19-S376A | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 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 | SEL1L-D162G | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | AX747031-Y95* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | CINP-R164H | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | CINP-N53K | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | OTUD7A-P591T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | TRPM1-N1229T | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | het unknown | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OCA2-R305W | het unknown | 0.082 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CENPJ-S879A | homozygous | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CENPJ-P85T | homozygous | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SACS-V3369A | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SACS-N232K | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | PUS3-R53H | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PUS3-A46S | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PUS3-Y3D | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWF-V1565L | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.038 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T1381A | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | het unknown | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ACSM4-R6Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ACSM4-Q357* | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SLCO1B3-M233I | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | SLCO1B3-G256A | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | SLCO1B3-F547Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | EPS8-P626T | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.922 (probably damaging) |
| 0.5 | TAS2R31-W281C | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | TAS2R31-L237F | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | TAS2R31-A227V | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | TAS2R31-N65H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TAS2R31-L62I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | UPK2-T113A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | TRPC6-A404V | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRPC6-P15S | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC25A45-R285C | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | SLC25A45-M224V | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | CCDC87-R447W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | AIP-Q228K | homozygous | 0.832 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AIP-Q307R | homozygous | 1.000 | 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 | TMEM135-G218R | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMEM135-S432C | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 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 | homozygous | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GYS2-M363V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LRRK2-R50H | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-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 | P2RX7-V76A | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | P2RX7-G150R | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | P2RX7-Y155H | het unknown | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | P2RX7-A348T | het unknown | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | P2RX7-E496A | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | P2RX7-N568I | homozygous | 0.984 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HNF1A-I27L | het unknown | 0.260 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S487N | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HPD-V340L | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HPD-T33A | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KNTC1-K245N | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.289 (possibly damaging) |
| 0.5 | KNTC1-V2021G | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | SGCG-N287S | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SCARB1-G2S | het unknown | 0.081 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | VPS37B-R246Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | VPS37B-P211Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GIT2-E261Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GIT2-L257Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MMAB-M239K | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-R19Q | homozygous | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VDR-M1T | het unknown | 0.676 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | PDZRN4-Y575C | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | KRT83-H493Y | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | homozygous | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-R149C | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT6C-R182Q | homozygous | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | STAB2-L661P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | STAB2-A1665T | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 0.5 | STAB2-P2039T | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | BBS10-P539L | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARHGAP9-S370A | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ARHGAP9-R50G | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | KLK13-H109Y | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | HTR3E-E22Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HTR3E-A86T | het unknown | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE6A-H655Y | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | ADRB2-T164I | het unknown | 0.011 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC26A2-I574T | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | 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 | SOX30-C55R | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | NR3C1-N363S | het unknown | 0.022 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DMXL1-V2067M | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | DMXL1-T2107S | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | TEKT4-R391C | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.151 (benign) |
| 0.5 | TEKT4-N409K | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | FBN2-V965I | homozygous | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A4-I306T | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SLC22A4-L503F | homozygous | 0.304 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMCO6-L237P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | NR_027127-W61* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | IL13-Q144R | homozygous | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TSPAN17-I140T | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.945 (probably damaging) |
| 0.5 | NSD1-M2250I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NSD1-M2261T | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NSD1-A2546T | het unknown | 0.025 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.458 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SKIV2L-Q151R | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SKIV2L-M214L | homozygous | 0.778 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SKIV2L-V917M | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SKIV2L-A1071V | het unknown | 0.201 | 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 | TNXB-P2731R | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-L8M | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q57E | homozygous | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q152H | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q198E | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M230V | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | ZBTB22-E591G | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HLA-DQB1-M24I | homozygous | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MICA-R29P | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MICA-L145V | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G198S | homozygous | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-I236T | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R274Q | het unknown | 0.478 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | 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-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 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F12-A207P | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GRM6-Q59P | homozygous | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | BTN2A2-G203S | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 0.5 | BTN2A2-A336T | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.868 (probably damaging) |
| 0.5 | KIF13A-F1600S | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | KIF13A-Q1190P | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.503 (possibly damaging) |
| 0.5 | FLT4-R1146H | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ST8SIA4-R116Q | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | PCSK1-S690T | het unknown | 0.235 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | PCSK1-Q665E | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC10A6-S6F | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SLC4A4-P771S | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.21 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PKD2-R28P | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMRN1-P1099S | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MANBA-V253I | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGT2B15-K523T | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGT2B15-Y85D | homozygous | 0.508 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TLR6-S249P | homozygous | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GAK-D1297N | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | GAK-P1260L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CCDC50-L121F | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CCDC50-M332T | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TMEM175-Q65P | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMEM175-M341T | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 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 | TLR10-L696F | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TLR10-I369L | het unknown | 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 | het unknown | 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 | LAP3-R200C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 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-T372M | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | CENPE-R1597S | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | PPA2-K282N | het unknown | 0.345 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | PPA2-P62S | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | SPEF2-N71H | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPEF2-R421H | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SPEF2-A904V | het unknown | 0.762 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPEF2-A934P | het unknown | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDZD2-D6N | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | PDZD2-R2247Q | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.5 | IL7R-I66T | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | het unknown | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-I356V | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LIFR-H116Y | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), 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 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-K121R | het unknown | 0.199 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-G375Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | GHR-I544L | homozygous | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | DNAH5-I4450V | het unknown | 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 | homozygous | 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 | TERT-F806H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TERT-STS309PTM | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | 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 | FAT4-Q453L | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | FAT4-A807V | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.799 (possibly damaging) |
| 0.5 | FAT4-S3873N | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT4-R4726K | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 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 | TLR3-C28G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR3C2-V180I | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MOCS1-R439Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-D338G | het unknown | 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 | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KANK1-E432Q | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | KANK1-P666L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PLEC-A2560T | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TOPORS-P20S | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GADD45G-M19I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | BAAT-R20Q | homozygous | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.5 | 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 | KCNQ3-R777Q | het unknown | 0.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNQ3-T740M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.077 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNQ3-E414G | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM83A-G86* | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | RP1-R872H | homozygous | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | RP1-A1670T | homozygous | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | RP1-S1691P | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PXDNL-D1452E | homozygous | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PXDNL-R1399K | homozygous | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PXDNL-C1258* | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PXDNL-I343T | homozygous | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.418 (possibly damaging) |
| 0.5 | SLCO5A1-R375Q | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | SLCO5A1-L33F | homozygous | 0.510 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PEX2-C184R | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | SLC26A7-I215V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | CNGB3-E755G | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-I307V | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.880 | 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-R525Q | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SVEP1-T3559M | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.964 (probably damaging) |
| 0.5 | SVEP1-E1810A | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | SVEP1-K1416Q | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SVEP1-L1330M | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | SVEP1-K899R | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-Q581H | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | SVEP1-V507I | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.5 | SVEP1-M456I | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.306 (possibly damaging) |
| 0.5 | SVEP1-T169I | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | FAM166A-P84L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AK094914-M25Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AK094914-A13Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | 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 | 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 | UBA1-R447H | homozygous | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R2937Q | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R1745H | homozygous | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | REXO4-T283A | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
| 0.5 | REXO4-R141K | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-P353Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ABO-V276M | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-F215I | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-P155L | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-S74P | het unknown | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-H63R | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-F36V | het unknown | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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-V783A | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CEP110-V56I | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 0.5 | CEP110-P216L | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | CEP110-L954S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | CEP110-K1188Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.028 (benign) |
| 0.5 | SH2D3C-G454R | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.84 (possibly damaging) |
| 0.5 | SH2D3C-L23F | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.693 (possibly damaging) |
| 0.5 | CELP-K177E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CELP-Q180* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | CELP-L184P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SETX-I1386V | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-K472N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ENG-S615L | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.043 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF13B-K1749E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KIF13B-E1220V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | NAT2-I114T | homozygous | 0.398 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A1-L160F | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A1-M408V | homozygous | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A1-M440I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PMS2-K541E | homozygous | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | THSD7A-R841H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | THSD7A-D771E | het unknown | 0.345 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | THSD7A-N583D | homozygous | 0.823 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DFNA5-V207M | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DFNA5-P142T | homozygous | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DNAH11-V1023A | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | 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-D1640G | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.718 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OPRM1-N40D | het unknown | 0.096 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OPRM1-Q402H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYNE1-L8741M | homozygous | 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-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 | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-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 | 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-M2226L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | homozygous | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R92Q | het unknown | 0.002 | 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 | KIAA1586-F75L | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 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 | PLEKHG1-V1071A | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PLEKHG1-L1321S | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | EPB41L2-E998Q | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | AIM1-E1196A | homozygous | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TXNDC3-C208R | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | FLNC-R1567Q | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNH2-K897T | het unknown | 0.169 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLL3-D1258N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MLL3-N942T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) | |
| 0.5 | MLL3-S772L | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.45 (possibly damaging) |
| 0.5 | MLL3-I707T | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLL3-M689I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLL3-L687F | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | MLL3-DL627EM | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MLL3-V623A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 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 | FGL1-Y140F | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FGL1-I72V | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | FGL1-T15I | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | LAMB1-R795G | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SERPINE1-A15T | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | CCM2-V53I | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | GLI3-P998L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI3-T183A | homozygous | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | EGFR-R521K | het unknown | 0.203 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL1A2-P549A | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB1-S893A | homozygous | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCB1-I261V | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HIP1-S453C | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.86 (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 | 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 | CSRP2BP-V400G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CSRP2BP-P600R | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CASP10-Y446C | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.39 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CASP10-L522I | het unknown | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NDUFV3-R200* | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | NDUFV3-D415N | homozygous | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GIGYF2-P460T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.855 (probably damaging) |
| 0.5 | GIGYF2-Q1216Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GIGYF2-Q1216Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | COLQ-S312G | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HACL1-I151F | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | GOLGA4-E677Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | GOLGA4-Q1028K | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | GOLGA4-M1793K | homozygous | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.47 (possibly damaging) |
| 0.5 | CRNKL1-C91Y | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CRNKL1-Q50* | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | LIMK2-R213C | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC22A14-L238Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC22A14-V284M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A14-S292G | homozygous | 0.873 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A14-P560R | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TSHZ2-R502K | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 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-R191S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DEPDC5-F685L | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | GLI2-A1156S | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-D1306N | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYLK2-P144A | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PCNT-H237Q | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.088 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-G704E | homozygous | 0.894 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-V1038A | homozygous | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-I1639V | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-N1841S | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-R1953H | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-L2097P | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-H2125P | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-M2188R | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-W2239R | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-P2274L | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-Q2361R | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-P2377L | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-A2549T | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-Q2659H | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-R2753H | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | PCNT-Q2792R | homozygous | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-R3245S | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SUN2-R348C | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FASTKD2-S10T | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.75 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TYMP-S471L | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC19A1-H27R | homozygous | 0.504 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | MLC1-C171F | homozygous | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | EFCAB6-A1059V | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EFCAB6-T351A | het unknown | 0.482 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.071 (benign) |
| 0.5 | EFCAB6-R199G | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
| 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 | COL18A1-A180T | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL18A1-A288T | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests |
| 0.5 | COL18A1-T379M | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 0.5 | COL18A1-G841Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | PASK-E796K | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | PASK-V250I | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SGSM3-W20R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging) |
| 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 | CAPN7-A128T | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CIDEC-T49M | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | C20orf54-P267L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C20orf54-I74M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | OBSL1-R1767Q | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-S1693L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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-P1251L | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | het unknown | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R368C | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-T3069I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A3012P | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
| 0.5 | COL3A1-A698T | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | UMPS-G213A | homozygous | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL4A3-L141P | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-D326Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NTSR1-A72V | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NR_027052-Q90* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ZXDC-P562L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | ZXDC-P118A | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HGD-Q80H | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBXO40-I115S | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | HPS4-Q620H | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC12A8-R664Q | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.036 (benign) |
| 0.5 | SLC12A8-K541R | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC12A8-I281V | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | SLC12A8-P266L | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC12A8-R181C | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NEB-I6534V | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-W3348C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-S2912P | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-H1991Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1550R | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | het unknown | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1479I | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-E191Q | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1671-K439R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.872 (probably damaging) | |
| 0.5 | AGAP1-V671I | homozygous | 0.636 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AGAP1-R798Q | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 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 | homozygous | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CHRNG-P506S | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.403 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ZNF335-P655S | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | ZNF335-S294T | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | ABCB11-V444A | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I23649T | homozygous | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S19140L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R9852H | homozygous | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-G9378R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-E4719G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-A3306V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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-K1201E | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZMYND10-R369W | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ANO10-R462Q | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ANO10-R263H | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TTC21A-R1056L | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TTC21A-R1317K | homozygous | 0.531 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GGT1-G84S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | TCN2-G94S | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TCN2-R259P | het unknown | 0.636 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TCN2-R399Q | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 0.5 | SCN11A-V909I | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SCN11A-K419N | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | KIAA1715-T159S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.426 (possibly damaging) |
| 0.5 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LRRC34-D376N | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GDF5-S276A | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IFNGR2-Q64R | homozygous | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 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 | LCT-N1639S | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-I362V | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MITF-N379S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RANBP2-S304G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RANBP2-R784K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | FMO2-D71DD | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.375 | FMO2-F81S | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | FMO2-V113Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.375 | FMO2-S195L | het unknown | 0.384 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | FMO2-N413K | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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-A79P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | FLG-Y2119H | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-Y1829H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | B3GALTL-L19P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | B3GALTL-E370K | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | AIRE-S278R | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | AIRE-R471C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | PDE6C-S270T | het unknown | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD3EAP-K428Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CD3EAP-Q504K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | PLCE1-R548L | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), 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 | 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 | MUC17-I3667Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MUC17-Q3671E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MUC17-R4333Q | homozygous | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MADD-V751M | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | C20orf186-V74Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C20orf186-I268V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C20orf186-N320T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C20orf186-F527L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C20orf186-T533I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ASXL1-G645Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ASXL1-L814P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | WDR87-R2737Q | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | WDR87-H2570L | het unknown | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | WDR87-V2262E | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | WDR87-N1885K | het unknown | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | WDR87-N1706Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | WDR87-G602A | het unknown | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MERTK-S118N | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-R466K | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-I518V | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SOD2-V16A | het unknown | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KIAA1244-R392Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KIAA1244-DF1098SI | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CDA-K27Q | het unknown | 0.262 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | SYNJ2-P1114Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SYNJ2-E1468G | het unknown | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | USH1C-E819D | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLAGL2-L396F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PLAGL2-Y325C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PLAGL2-L246Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PLAGL2-S243L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PLAGL2-T235M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PLAGL2-W11Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZP3-G31R | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZP3-T361I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ZP3-P364Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ABCB4-R652G | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ZNF224-M118V | het unknown | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF224-H162L | het unknown | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.25 | ZNF224-K640E | het unknown | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP3A7-R409T | het unknown | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ACADSB-R13K | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.25 | EIF4H-M180Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EIF4H-E248K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | 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 | TGFB1-P10L | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ELN-G422S | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PRKDC-N2829Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PRKDC-L1243Shift | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | ZNF777-V115A | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.25 | ZNF777-R70W | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.854 (probably damaging) |
| 0.25 | ZNF777-E17Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PTPN22-W620R | het unknown | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OVGP1-E676Q | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OVGP1-S536G | homozygous | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OVGP1-T533TTGQKTLT | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | OVGP1-T523A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | OVGP1-T518S | homozygous | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | OVGP1-Y514H | homozygous | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OVGP1-S511P | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OVGP1-M477T | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | OVGP1-A352Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FNDC7-S221Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FNDC7-V353A | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NEUROD1-T45A | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IGSF3-Q1093R | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | IGSF3-D1040EE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | IGSF3-E806* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | IGSF3-A765V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | IGSF3-A539V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | IGSF3-G503S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NOTCH2-P210L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | TAF1B-T281Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TAF1B-V282I | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TAF1B-T351A | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.588 (possibly damaging) |
| 0.25 | TAF1B-E462D | homozygous | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-LQAVT2714Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PRUNE2-S2618G | het unknown | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-S2511P | het unknown | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-A2184T | het unknown | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-T1972A | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-H1708N | het unknown | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-S1018SLQQS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PRUNE2-T1004M | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-N817D | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-L5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ADAMTSL4-A193P | homozygous | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL4-G758Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ADAMTSL4-A969D | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FAM75C1-R207H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM75C1-A278G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM75C1-Y462H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM75C1-G587S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM75C1-E653G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM75C1-E1024Q | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FAM75C1-Q1141* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | LRP2-I4210L | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | LRP2-K4094E | het unknown | 0.799 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LRP2-A2872T | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PTBP2-A317Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PTBP2-A320T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CYP4B1-R173W | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-D295Shift | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CYP4B1-M332I | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-R341C | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-R376C | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAAH-P129T | het unknown | 0.256 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 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 | SPOCD1-Y690Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SPOCD1-R436W | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.942 (probably damaging) |
| 0.25 | SPOCD1-T109A | het unknown | 0.669 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | THADA-C1605Y | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.387 (possibly damaging) |
| 0.25 | THADA-T1385S | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | THADA-T1187A | het unknown | 0.156 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.384 (possibly damaging) |
| 0.25 | MYADML-I144V | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MYADML-W129C | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MYADML-L126Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TANC1-P30S | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | TANC1-N251S | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TANC1-T1573Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ABCA4-H423R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CTBS-V274I | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.953 (probably damaging) |
| 0.25 | CTBS-C49Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | XIRP2-D688Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | XIRP2-L1624F | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | KANK4-V840A | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.094 (benign) |
| 0.25 | KANK4-H822R | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | KANK4-T768A | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.14 (benign) |
| 0.25 | KANK4-Q117Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | RHBG-G76D | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RHBG-D425Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FCGR3A-F212V | het unknown | 0.285 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-R190W | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-V101L | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-I11T | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GFRA2-L462Q | homozygous | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.831 (possibly damaging) |
| 0.25 | GFRA2-V38Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SFTPC-T138N | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-S186N | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATIC-T116S | het unknown | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC4A3-H157P | het unknown | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | SLC4A3-H157P | het unknown | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | SLC4A3-D867A | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-T49S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-I81V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-C194* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 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 | PTPRN2-A284T | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PTPRN2-R219Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PTPRN2-R213H | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.802 (possibly damaging) |
| 0.25 | PTPRN2-S208P | homozygous | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RET-G691S | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | IRS1-G971R | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging) |
| 0.25 | IRS1-H598Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CPO-M85I | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests |
| 0.25 | CPO-S134R | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KISS1-*139Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KISS1-P81R | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | POU5F1B-G120Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | POU5F1B-G176E | homozygous | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | POU5F1B-E238Q | homozygous | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TG-S734A | het unknown | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-M1028V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | TG-D1312G | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-D1838N | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.25 | TG-M1974T | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-W2501R | homozygous | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 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 | DOCK8-A22V | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 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 | CASP8-K14R | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NM_001144950-N635Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NM_001144950-R804W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NM_001144950-L976P | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC30A8-R325W | het unknown | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC7A13-T366Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SLC7A13-V249M | homozygous | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.97 (probably damaging) |
| 0.25 | TMC4-Q689E | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TMC4-H103Y | homozygous | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TMC4-G33Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TMC4-G17E | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CFHR1-H157Y | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-L159V | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-E175Q | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NLRP7-V319I | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | KIR2DL4-L128Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KIR2DL4-R131Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | KIR2DL4-A138T | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | LAMA2-A2585V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LAMA2-Y2802Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.25 | AMACR-E277K | het unknown | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-L201S | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-G175D | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-V9M | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FAM189A1-V431A | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | FAM189A1-R393H | het unknown | 0.705 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAM189A1-H375R | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAM189A1-A329Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM189A1-C66G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | KIF26A-R644G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | KIF26A-G646Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ATP10A-R1298S | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ATP10A-A1179T | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.108 (benign) |
| 0.25 | ATP10A-E543Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RPAP1-Q825E | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RPAP1-R582G | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | RPAP1-E506K | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.906 (probably damaging) |
| 0.25 | 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 | SLC6A19-V252I | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GATM-Q110H | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A2-P22L | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A2-S75R | het unknown | 0.497 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KCNH8-N785Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KCNH8-Q893R | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | SPG11-F463S | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AK126213-A234T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK126213-M228Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AK126213-R224M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TC2N-K151T | het unknown | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | TC2N-K151T | het unknown | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | WDR36-H212P | het unknown | 0.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | WDR36-I264V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SCO2-R20P | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSD17B4-W511R | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably 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 | CYP2D6-T486S | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP2D6-C296R | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP2D6-P34S | het unknown | 0.187 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | C17orf57-V312I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C17orf57-Y546* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | MCEE-R104L | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCEE-A76V | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-D2N | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA2-E534K | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | VCAN-K1516R | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | ERBB2-I655V | het unknown | 0.168 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.18 (benign) |
| 0.25 | ERBB2-P1170A | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.25 | WDR72-P306L | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.25 | WDR72-S291Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | WDR72-M100V | homozygous | 0.958 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TK2-K30R | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | WFS1-V333I | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | PLSCR3-V293I | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PLSCR3-L243Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF267-C350Y | homozygous | 0.842 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF267-P575Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF267-T605K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TLR1-S602I | het unknown | 0.485 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR1-N248S | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | EIF2AK3-A704S | het unknown | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2AK3-Q166R | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2AK3-S136C | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DOK7-G461D | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLD1-A622S | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ZNF469-S357P | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF469-R366S | het unknown | 0.886 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.133 (benign) |
| 0.25 | ZNF469-A429T | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | ZNF469-G510A | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF469-A566V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ZNF469-K1162E | het unknown | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
| 0.25 | ZNF469-G2358R | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
| 0.25 | ZNF469-L2670Q | het unknown | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF469-H2848R | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF469-R3417Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF469-T3636A | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | CLCN2-T668S | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DHODH-K7Q | het unknown | 0.542 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 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 | CD19-L174V | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SH2B1-T484A | het unknown | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BBS12-R386Q | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | FGA-T331A | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests |
| 0.25 | SLFN12-D186Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SLFN12-C168R | homozygous | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
| 0.25 | SLFN12-S43R | homozygous | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.45 (possibly damaging) |
| 0.25 | AX747619-G235A | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | AX747619-W176R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AX747619-E64Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C15orf40-L132Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C15orf40-C25R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLC28A1-D521N | het unknown | 0.360 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FRAS1-D32G | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FRAS1-L466I | homozygous | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FRAS1-K630Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FRAS1-D687G | homozygous | 0.410 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FRAS1-A817V | homozygous | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FRAS1-E1136K | homozygous | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FRAS1-K2378E | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FRAS1-V3566I | het unknown | 0.536 | Unknown not reviewed | 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 | GLYR1-H459Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GLYR1-R381Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CPOX-N272H | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.037 (benign), Testable gene in GeneTests |
| 0.25 | ANAPC1-A1524P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ANAPC1-S1483P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ANAPC1-R1475* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ANAPC1-H1231R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ANAPC1-S234L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DNAH12-G2893S | het unknown | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH12-K1754N | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH12-D1549N | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH12-A537Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C5orf20-R117* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C5orf20-N97D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C5orf20-T75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | 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 | SLCO1B1-N130D | het unknown | 0.528 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B1-P155T | het unknown | 0.135 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | 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 | KCNE1-S38G | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PNPLA1-T164Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PNPLA1-P423H | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | CTDP1-S61A | het unknown | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CTDP1-T340M | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINB5-N62Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SERPINB5-S176P | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SERPINB5-V187L | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SERPINB5-I319V | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-L210Shift | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CELA1-M59V | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PFKM-R100Q | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | COL2A1-T9S | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IRAK4-A428T | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ALDH4A1-V470I | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 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 | SNX19-L878R | het unknown | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-N753S | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-V361L | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | 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 | MAN2B1-L278V | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | USP35-T655Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | USP35-A876P | homozygous | 0.970 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MYO7A-L16S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-L1954I | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RSPH4A-R556H | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RSPH4A-L589P | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | WISP3-Q74H | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CD109-G377D | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.033 (benign) |
| 0.25 | CD109-V1009Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LMBRD1-D469E | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-R532H | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCCC1-H464P | het unknown | 0.584 | Unknown not reviewed | 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 | 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 | KIAA1731-R208Q | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KIAA1731-S1683Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KIAA1731-E2437V | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.889 (probably damaging) |
| 0.25 | KCNQ2-N780T | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BAG6-S619P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | BAG6-T391Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MDC1-S1915Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MDC1-S1540P | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.25 | MDC1-E1509D | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.197 (benign) |
| 0.25 | MDC1-R917S | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.226 (possibly damaging) |
| 0.25 | SPINK5-D386N | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-E825D | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SMTN-S536Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SMTN-A547P | homozygous | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SMTN-A559V | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TCOF1-P1139R | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNFRSF19-T15Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TNFRSF19-R419Q | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | GM2A-I59V | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GM2A-M69V | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GM2A-V153A | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | TEP1-S1195P | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-R1055C | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-S116P | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-K192E | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-A547S | het unknown | 0.232 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-E1033Q | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PAX9-A240P | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | ATP6V1B1-T30I | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYH6-V1101A | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COG1-T350M | het unknown | 0.007 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.978 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COG1-N392S | het unknown | 0.530 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC2-I776V | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAH10-S167P | homozygous | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH10-I480V | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH10-L1631V | het unknown | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH10-W2264Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PTPRQ-V473D | homozygous | 0.897 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PTPRQ-S612Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PTPRQ-V647G | homozygous | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | RNF39-A304E | het unknown | 0.173 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF39-G263C | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF39-P260A | het unknown | 0.008 | 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 | LRP1-Q2900P | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP1-D4193Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ATXN1-P753S | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A2-A68V | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | ITGB4-L1779P | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ACOX1-I312M | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SH2B3-W262R | het unknown | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | COL5A1-D1172Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | SIAE-M89V | het unknown | 0.040 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0 | HPS1-M325Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | PMP22-Y136S | het unknown | 0.000 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0 | MEFV-R202Q | het unknown | 0.178 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | ACADVL-R385W | het unknown | 0.008 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0 | NF1-I679Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | SHANK3-L220Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | SLC7A9-A182T | het unknown | 0.003 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0 | BSCL2-I326Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | CBS-T460M | het unknown | 0.008 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0 | TGM1-E520G | het unknown | 0.006 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.987 (probably damaging), Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,731,002,160 bases (95.6% of callable positions, 88.7% of total positions)
Coding region coverage: 32,206,309 bases (96.8% of all genes, 97.9% 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