Variant report for huA06085
- Data source: huA06085.GS000052494-DID
- This report: evidence.pgp-hms.org/genomes?de043f584510e3d8cce5cd2696ba83685f33ba6b
- Person ID: huA06085
- public profile: my.pgp-hms.org/profile/huA06085
- Download: source data, dbSNP and nsSNP report (114 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | GNRHR-R139H | High | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.000092954 | Reported to cause hypogonadotropic hypogonadism in a recessive manner, and is reported by ClinVar where it has been reported by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000030914/). This report comes from Costa et al 2001 (PMID: 11397871), who studied 14 familias and saw this homozygous in one patient. In ExAC data this is rare; 1 in 3000 are carriers for this variant. | 1 |
| 2 | KCNE1-D85N | High | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.00873768 | Proposed to cause drug-induced long QT syndrome by one group. Another group suggests an association with noise-induced hearing loss. Neither study found a statistical significant association for this variant after multiple hypotheses are corrected for. | 1 |
| 3 | LRP5-V667M | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0413646 | This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems. | 1 |
| 4 | SERPINA6-L115H | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | Reported to cause corticosteroid deficiency in a recessive fashion, a disease which can cause fatigue after exertion. This variant was reported by Van Baelen et al 1982 (PMID: 7061486), and recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000018495/). Van Baelen et al described this variant as "transcortin Leuven", who reported the variant protein product had 3.6-fold reduced affinity for cortisol at 28C. | 1 | |
| 5 | OPTN-M98K | Moderate | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.0613497 | This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant. | 1 |
| 6 | PPARG-P12A | Moderate | Uncertain | Uncertain not reviewed Unknown, Heterozygous | 0.0886782 | 1 | |
| 7 | 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 |
| 8 | PIGR-A580V | Low | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.247537 | In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%. | 1 |
| 9 | 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 |
| 10 | 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 |
| 11 | MBL2-G54D | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.103923 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). | 1 |
| 12 | CETP-A390P | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0388548 | This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl). | 1 |
| 13 | RET-R982C | Low | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.016174 | Initially suspected of causing Hirschsprung’s disease, this rare variant has been later reported as present in unaffected controls (allele frequency around 1%). Supporting a lack of effect: Panini et al. did not find loss of function effects seen in other variants, and Svensson et al. report unaffected relatives in a family who carried the same variant. OMIM lists it as reported to cause increased susceptibility, but there do not appear to be any statistically significant reports supporting this hypothesis. | 1 |
| 14 | TLR5-R392X | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.0439673 | This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165. | 1 |
| 15 | LRP5-A1330V | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.110367 | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. | 1 |
| 16 | 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 |
| 17 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 18 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
| 19 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
| 20 | 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 |
| 21 | CYP2C9-R144C | Moderate | Well-established | Well-established pharmacogenetic Unknown, Heterozygous | 0.0970982 | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. | 1 |
| 22 | TPMT-Y240C | Low | Well-established | Well-established pharmacogenetic Complex/Other, Heterozygous | 0.0461825 | Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. | 1 |
| 23 | TPMT-A154T | Low | Likely | Likely pharmacogenetic Recessive, Carrier (Heterozygous) | 0.0280774 | Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. | 1 |
| 24 | 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 |
| 25 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Homozygous | 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 |
| 26 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Homozygous | 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 |
| 27 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Heterozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 28 | IRS2-G1057D | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.232615 | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). | 1 |
| 29 | DTNBP1-P272S | Low | Uncertain | Uncertain protective Recessive, Carrier (Heterozygous) | 0.0351366 | Possibly a slight protective effect against colorectal cancer if homozygous. | 1 |
| 30 | TYR-R402Q | Low | Well-established | Well-established benign Complex/Other, Heterozygous | 0.204964 | This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene. | 1 |
| 31 | MEFV-K695R | Low | Likely | Likely benign Unknown, Heterozygous | 0.00185908 | Reported to cause Familial Mediterranean Fever in a recessive manner, recorded in ClinVar by OMIM and another clinical group (http://www.ncbi.nlm.nih.gov/clinvar/RCV000002656/). This report comes from Bernot et al 1998 (PMID: 9668175) who screened 120 patient chromosomes and report seeing this in 3 Jewish families. However, the variant is relatively common with 0.8% frequency in European ancestry. This strongly contradicts the reported effect, and the observation of Bernot et al is not statistically different from this population data. | 1 |
| 32 | 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 | |
| 33 | 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 |
| 34 | 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 |
| 35 | DYNC2H1-Q304L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0484135 | Presumed benign. | 1 |
| 36 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 37 | GUCY2D-A52S | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.21016 | One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect. | 1 |
| 38 | F5-D2222G | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0448968 | Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign. | 1 |
| 39 | F5-M413T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0580963 | Presumed benign. This variant is not particularly rare and has not been reported to cause disease. | 1 |
| 40 | RAPSN-R58C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0778026 | Reported as non-pathogenic polymorphism. | 1 |
| 41 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 42 | TERT-A279T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0200037 | Reported as a rare but probably nonpathogenic polymorphism occurring in controls as well as patients. Other defects in this gene are associated with telomere shortening which may cause aplastic anemia or dyskeratosis congenita. | 1 |
| 43 | 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 |
| 44 | 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 |
| 45 | 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 |
| 46 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 47 | 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 |
| 48 | UNC13D-A59T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0171965 | Probably benign. This variant was reported to cause haemophagocytic lymphohistiocytosis in a recessive manner, but its allele frequency is inconsistent with this hypothesis and so we evaluate it as a nonpathogenic polymorphism. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32173197 / 33212919 = 96.87%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.62854349951124 | 2280 | 6138 | 955553-955753, 957603-957605, 957648, 957667, 957670, 957674-957676, 957686-957694, 957703-957717, 957756-957796, 957817-957835, 970671-970702, 976049-976063, 976074-976124, 976159-976260, 976561, 976580-976705, 976724, 976738, 976748-976757, 976876-976877, 976912-976919, 976977-977001, 977072-977082, 977458, 977461-977463, 977466, 977470, 977484, 977491, 978663-978697, 978722-978766, 978781, 978785-978787, 978926-978927, 978953-978976, 979007, 979015, 979065-979096, 979295-979344, 979354-979395, 979744, 980570-980577, 980582-980583, 980586-980606, 980618, 980642, 980765, 980883, 980891, 981344-981362, 981385, 981613, 981777-981789, 981805-981817, 981827, 981830-981832, 981843, 981847-981848, 981877-981913, 981931-981956, 981964-981965, 981978-982002, 982031-982036, 982089-982115, 982200-982260, 982282-982318, 982728, 982778, 982783, 982797-982798, 982969-982994, 982999, 983050, 983168-983187, 983196-983201, 983210-983250, 983392-983434, 983477-983550, 983559-983566, 983578-983745, 984247-984352, 984359-984391, 984432, 984616-984649, 984661-984669, 984680-984720, 984729-984750, 984806-984822, 984946-984957, 984999-985005, 985008, 985069-985073, 985102, 985114-985115, 985134-985135, 985153-985175, 985312-985338, 985372-985417, 985613-985616, 985651-985666, 985876-985904, 985952-985953, 986128-986164, 986178-986196, 986199, 986209-986211, 986661-986691, 986707-986746, 986833-986879, 986910-986917, 987108, 987193, 989215, 989340-989354, 990261, 990280, 990294-990298, 990336 |
| 2 | GABRD | 1 | 0.73142016188374 | 365 | 1359 | 1950863-1950893, 1950906-1950930, 1956837, 1956957-1956982, 1956998-1956999, 1957018, 1957114-1957157, 1959031-1959036, 1959719-1959725, 1960569-1960600, 1960634-1960638, 1960674, 1960676-1960689, 1960990-1961010, 1961046-1961095, 1961122-1961128, 1961183-1961187, 1961422-1961438, 1961448-1961449, 1961461-1961491, 1961500-1961504, 1961523-1961526, 1961557, 1961582-1961588, 1961648-1961652, 1961656, 1961675-1961688 |
| 3 | PEX10 | 1 | 0.84709480122324 | 150 | 981 | 2337923-2337938, 2337946-2337947, 2337958-2337961, 2337966, 2337971, 2338287, 2339998, 2340008-2340039, 2343830-2343899, 2343920-2343941 |
| 4 | NPHP4 | 1 | 0.96612940901658 | 145 | 4281 | 6027368, 6038330-6038473 |
| 5 | ESPN | 1 | 0.67407407407407 | 836 | 2565 | 6485016-6485309, 6488304, 6488322, 6488325, 6488333, 6488378-6488392, 6488426-6488432, 6488459-6488479, 6500376-6500419, 6500432, 6500452, 6500466-6500471, 6500485, 6500706, 6500712, 6500738-6500779, 6500830-6500868, 6505732-6505738, 6505776-6505798, 6505814-6505860, 6505906-6505907, 6505915-6505917, 6508701-6508705, 6508727-6508766, 6508828-6508857, 6508885, 6508925, 6508957-6508988, 6509016-6509060, 6509072-6509106, 6509142, 6511680, 6511687, 6511693, 6511907-6511942, 6512106-6512133, 6517244-6517263 |
| 6 | PLEKHG5 | 1 | 0.98306679209784 | 54 | 3189 | 6528120, 6528323, 6528546, 6529183-6529185, 6529713, 6529717, 6530333, 6530356, 6530846, 6531590, 6532618-6532635, 6533404-6533415, 6534626-6534629, 6535125, 6537680, 6537683, 6556587, 6557380-6557383 |
| 7 | PEX14 | 1 | 0.98412698412698 | 18 | 1134 | 10684439-10684456 |
| 8 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082356-11082362 |
| 9 | MASP2 | 1 | 0.97573993207181 | 50 | 2061 | 11102961-11102980, 11103076-11103077, 11103399-11103400, 11103535, 11103545, 11103550, 11105498-11105504, 11105507-11105514, 11105593, 11106783, 11107065, 11107260-11107264 |
| 10 | MTHFR | 1 | 0.99797057331304 | 4 | 1971 | 11853981, 11854853-11854855 |
| 11 | CLCNKA | 1 | 0.98013565891473 | 41 | 2064 | 16353256-16353257, 16356460-16356463, 16356466, 16356967-16357000 |
| 12 | CLCNKB | 1 | 0.98934108527132 | 22 | 2064 | 16377490, 16378745-16378747, 16378751, 16378804, 16382223-16382231, 16382973-16382979 |
| 13 | ATP13A2 | 1 | 0.99463731301157 | 19 | 3543 | 17313601-17313615, 17322545-17322546, 17322550, 17326570 |
| 14 | HSPG2 | 1 | 0.99104432301154 | 118 | 13176 | 22186064-22186066, 22191454, 22199150-22199156, 22199490-22199529, 22207917-22207918, 22211158-22211159, 22263648-22263710 |
| 15 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
| 16 | FUCA1 | 1 | 0.97501784439686 | 35 | 1401 | 24194454-24194456, 24194675, 24194706-24194735, 24194748 |
| 17 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 18 | KCNQ4 | 1 | 0.95689655172414 | 90 | 2088 | 41249784, 41249804-41249817, 41249851-41249899, 41249906, 41249945-41249961, 41250034-41250041 |
| 19 | PCSK9 | 1 | 0.99422799422799 | 12 | 2079 | 55521674-55521685 |
| 20 | LEPR | 1 | 0.98570611778159 | 50 | 3498 | 66058402-66058451 |
| 21 | ACADM | 1 | 0.99921752738654 | 1 | 1278 | 76205754 |
| 22 | COL11A1 | 1 | 0.98827194429174 | 64 | 5457 | 103354428, 103363691-103363692, 103363696, 103363718, 103364232-103364266, 103364296-103364299, 103364497-103364499, 103364507, 103364535-103364550 |
| 23 | GSTM1 | 1 | 0.66666666666667 | 219 | 657 | 110230496-110230531, 110230795, 110230839, 110230854, 110231295-110231305, 110231691, 110231721, 110231724-110231726, 110231737-110231745, 110231750-110231751, 110231855, 110231880-110231947, 110232908-110232910, 110232977-110232988, 110233076-110233141, 110233173, 110233178, 110235917 |
| 24 | NOTCH2 | 1 | 0.98813376483279 | 88 | 7416 | 120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539933-120539955, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611964, 120611999-120612009 |
| 25 | FLG | 1 | 0.99835877236173 | 20 | 12186 | 152278431-152278437, 152279403-152279409, 152280471, 152281290, 152283097, 152284424-152284426 |
| 26 | HAX1 | 1 | 0.97142857142857 | 24 | 840 | 154245860-154245883 |
| 27 | PKLR | 1 | 0.99246376811594 | 13 | 1725 | 155269981-155269993 |
| 28 | SEMA4A | 1 | 0.99825021872266 | 4 | 2286 | 156131157-156131158, 156131161, 156131169 |
| 29 | NTRK1 | 1 | 0.99623588456713 | 9 | 2391 | 156830728-156830736 |
| 30 | F5 | 1 | 0.99955056179775 | 3 | 6675 | 169510348, 169510483, 169510524 |
| 31 | DARS2 | 1 | 0.99948400412797 | 1 | 1938 | 173808511 |
| 32 | HMCN1 | 1 | 0.99988171279868 | 2 | 16908 | 185892784-185892785 |
| 33 | CFH | 1 | 0.99810606060606 | 7 | 3696 | 196716389-196716395 |
| 34 | CFHR1 | 1 | 0.99798590130916 | 2 | 993 | 196801042, 196801078 |
| 35 | CFHR5 | 1 | 0.99941520467836 | 1 | 1710 | 196967366 |
| 36 | GJC2 | 1 | 0.84015151515152 | 211 | 1320 | 228345603, 228345643-228345648, 228345713-228345720, 228345951, 228346031-228346056, 228346239-228346257, 228346290-228346334, 228346346, 228346355, 228346361-228346398, 228346407, 228346424-228346450, 228346466, 228346469, 228346474, 228346478, 228346531-228346560, 228346722, 228346751-228346752 |
| 37 | ACTA1 | 1 | 0.97795414462081 | 25 | 1134 | 229567777, 229568041-229568043, 229568085-229568086, 229568159-229568177 |
| 38 | RYR2 | 1 | 0.9981884057971 | 27 | 14904 | 237821262-237821287, 237821318 |
| 39 | OPTN | 10 | 0.99711649365629 | 5 | 1734 | 13151244-13151248 |
| 40 | DCLRE1C | 10 | 0.999518999519 | 1 | 2079 | 14981868 |
| 41 | CUBN | 10 | 0.99981604120677 | 2 | 10872 | 16979715, 17145231 |
| 42 | PTF1A | 10 | 0.98378926038501 | 16 | 987 | 23481661-23481668, 23481679, 23481695-23481696, 23481757-23481761 |
| 43 | PDSS1 | 10 | 0.99759615384615 | 3 | 1248 | 27009244-27009246 |
| 44 | RET | 10 | 0.97817638266069 | 73 | 3345 | 43572707-43572779 |
| 45 | PRF1 | 10 | 0.99940047961631 | 1 | 1668 | 72358263 |
| 46 | CDH23 | 10 | 0.99910501193317 | 9 | 10056 | 73464770, 73464887, 73537499-73537505 |
| 47 | LDB3 | 10 | 0.95695970695971 | 94 | 2184 | 88441321-88441330, 88476113, 88476116-88476129, 88476143-88476199, 88476211-88476220, 88476443, 88476446 |
| 48 | GLUD1 | 10 | 0.99821109123435 | 3 | 1677 | 88854453, 88854458, 88854462 |
| 49 | PTEN | 10 | 0.9983498349835 | 2 | 1212 | 89720651-89720652 |
| 50 | HPS1 | 10 | 0.99952516619183 | 1 | 2106 | 100177375 |
| 51 | FBXW4 | 10 | 0.9911218724778 | 11 | 1239 | 103454327-103454333, 103454358-103454360, 103454375 |
| 52 | SUFU | 10 | 0.99656357388316 | 5 | 1455 | 104264087-104264091 |
| 53 | HTRA1 | 10 | 0.94663894663895 | 77 | 1443 | 124221194, 124221198-124221199, 124221202-124221247, 124221344-124221371 |
| 54 | HRAS | 11 | 0.99824561403509 | 1 | 570 | 532711 |
| 55 | TALDO1 | 11 | 0.96646942800789 | 34 | 1014 | 747492, 747562-747564, 747567-747576, 763396-763415 |
| 56 | SLC25A22 | 11 | 0.78497942386831 | 209 | 972 | 792024-792052, 792196-792205, 792337, 792347, 792359, 792430-792447, 792562-792563, 792579-792615, 792632-792666, 792676-792704, 792712-792715, 792725-792727, 792875-792877, 792896-792913, 792970-792974, 794509-794511, 794776-794778, 794800-794806 |
| 57 | PNPLA2 | 11 | 0.90825082508251 | 139 | 1515 | 819719-819760, 819787, 819794-819808, 819837, 819862-819905, 821738, 823789-823791, 824012-824016, 824020-824033, 824523-824528, 824633, 824785-824789, 824841 |
| 58 | CTSD | 11 | 0.93946731234867 | 75 | 1239 | 1775367-1775368, 1778580-1778585, 1778590-1778592, 1780199-1780201, 1785022-1785024, 1785032-1785089 |
| 59 | TNNI2 | 11 | 0.94353369763206 | 31 | 549 | 1861770-1861794, 1862370-1862375 |
| 60 | TNNT3 | 11 | 0.43758043758044 | 437 | 777 | 1944785-1944786, 1946329-1946346, 1951040-1951051, 1953707-1953724, 1954951-1954970, 1954979-1954987, 1954994-1955044, 1955048, 1955051-1955067, 1955161-1955206, 1955225-1955238, 1955575-1955666, 1955788-1955790, 1955794, 1955799, 1955814-1955844, 1955869-1955885, 1956061-1956063, 1956117-1956133, 1958193-1958213, 1958219-1958226, 1958232-1958233, 1959668-1959699, 1959722 |
| 61 | IGF2 | 11 | 0.51617440225035 | 344 | 711 | 2154219-2154237, 2154249-2154257, 2154261, 2154266-2154272, 2154276-2154278, 2154292, 2154295, 2154298-2154303, 2154306-2154324, 2154336-2154422, 2154433-2154446, 2154759-2154784, 2154806-2154812, 2154833, 2154855, 2154882-2154895, 2156627-2156655, 2156668, 2156674, 2156707, 2156720-2156759, 2161406-2161443, 2161495, 2161502, 2161511-2161526 |
| 62 | TH | 11 | 0.74412698412698 | 403 | 1575 | 2185463-2185464, 2185471, 2185605-2185612, 2185619, 2186479-2186505, 2186509, 2186534-2186571, 2186595, 2186959-2186993, 2187251-2187276, 2187710-2187724, 2187742-2187779, 2187869, 2187872-2187874, 2187885-2187886, 2187910-2187917, 2187931-2187998, 2188151-2188200, 2188226-2188233, 2188238, 2188249-2188262, 2189741, 2190989, 2191018, 2191023-2191027, 2191920-2191966 |
| 63 | KCNQ1 | 11 | 0.92860659773511 | 145 | 2031 | 2466329-2466383, 2466398, 2466458-2466475, 2466484, 2466508, 2466523-2466545, 2466568-2466570, 2466584-2466586, 2466596-2466598, 2466601-2466602, 2466616, 2466641-2466659, 2593323-2593336, 2790119 |
| 64 | CDKN1C | 11 | 0.33438485804416 | 633 | 951 | 2905900-2906525, 2906543, 2906572, 2906582, 2906586, 2906593, 2906599-2906600 |
| 65 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
| 66 | SMPD1 | 11 | 0.99947257383966 | 1 | 1896 | 6411935 |
| 67 | ABCC8 | 11 | 0.99852507374631 | 7 | 4746 | 17498293-17498299 |
| 68 | ANO5 | 11 | 0.9963530269876 | 10 | 2742 | 22276995-22276996, 22277007, 22277033-22277039 |
| 69 | WT1 | 11 | 0.99099099099099 | 14 | 1554 | 32449508-32449509, 32456688-32456689, 32456694-32456703 |
| 70 | PEX16 | 11 | 0.99135446685879 | 9 | 1041 | 45939260-45939267, 45939282 |
| 71 | F2 | 11 | 0.99732477260567 | 5 | 1869 | 46747620-46747623, 46749588 |
| 72 | MYBPC3 | 11 | 0.99555555555556 | 17 | 3825 | 47367880, 47372078, 47372127-47372138, 47372985-47372987 |
| 73 | NDUFS3 | 11 | 0.99119496855346 | 7 | 795 | 47600855-47600861 |
| 74 | BSCL2 | 11 | 0.99928005759539 | 1 | 1389 | 62472937 |
| 75 | SLC22A12 | 11 | 0.89109506618532 | 181 | 1662 | 64359098-64359112, 64360271, 64360274, 64360284-64360286, 64360347, 64360928-64360940, 64361026, 64361029, 64361122, 64361127-64361131, 64361194-64361232, 64366009-64366010, 64366300-64366302, 64367163-64367176, 64367220-64367223, 64367242-64367289, 64367334-64367362 |
| 76 | SPTBN2 | 11 | 0.99832705980761 | 12 | 7173 | 66468007, 66468753, 66473301-66473303, 66475124, 66475244, 66475250-66475253, 66478467 |
| 77 | PC | 11 | 0.99971727452643 | 1 | 3537 | 66617542 |
| 78 | CABP4 | 11 | 0.97101449275362 | 24 | 828 | 67223077-67223099, 67223659 |
| 79 | AIP | 11 | 0.78952668680765 | 209 | 993 | 67256763-67256772, 67256819, 67257547, 67257582-67257585, 67257596, 67257600-67257601, 67257608-67257609, 67257632-67257639, 67257787-67257798, 67257805-67257850, 67257852-67257853, 67257860, 67257866-67257873, 67257915-67257926, 67258288-67258335, 67258339, 67258355-67258361, 67258368-67258374, 67258380-67258414, 67258445 |
| 80 | NDUFS8 | 11 | 0.91469194312796 | 54 | 633 | 67799780-67799784, 67799791, 67800415-67800438, 67800464, 67800672-67800680, 67803799-67803800, 67803972-67803982, 67804014 |
| 81 | TCIRG1 | 11 | 0.91255515443241 | 218 | 2493 | 67808854, 67809221, 67809283, 67810133, 67810167-67810169, 67810175, 67810200-67810203, 67810248-67810258, 67810280-67810281, 67810288, 67810292-67810314, 67810470-67810472, 67810475-67810482, 67810856, 67810931, 67810934, 67811086-67811090, 67811303-67811316, 67811354, 67811723, 67811779-67811787, 67815114-67815115, 67816402-67816404, 67816454-67816455, 67816577, 67816724-67816733, 67816738-67816739, 67817140-67817184, 67817233-67817238, 67817604-67817628, 67817710-67817715, 67817966-67817979, 67818079-67818086, 67818131 |
| 82 | LRP5 | 11 | 0.96039603960396 | 192 | 4848 | 68080183-68080253, 68131385-68131388, 68131397, 68174251-68174253, 68177382, 68177385-68177390, 68177510, 68192579-68192581, 68207347-68207384, 68216335-68216356, 68216432-68216473 |
| 83 | CPT1A | 11 | 0.99956933677864 | 1 | 2322 | 68562371 |
| 84 | IGHMBP2 | 11 | 0.99966465459423 | 1 | 2982 | 68671477 |
| 85 | MYO7A | 11 | 0.78083634175692 | 1457 | 6648 | 76853840, 76858915, 76867792-76867794, 76868022-76868029, 76873356-76873359, 76873926-76873941, 76874014-76874015, 76883794-76883807, 76883839-76883859, 76883926-76883931, 76885807-76885927, 76885934-76885936, 76885950-76885960, 76886418-76886502, 76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892460, 76892466-76892635, 76892997-76893096, 76893122-76893165, 76893176-76893185, 76893469-76893645, 76894117-76894138, 76894160-76894177, 76894188, 76895706-76895745, 76900402-76900413, 76901801-76901809, 76903250-76903262, 76912646-76912647 |
| 86 | DRD2 | 11 | 0.99924924924925 | 1 | 1332 | 113283314 |
| 87 | TECTA | 11 | 0.99922660479505 | 5 | 6465 | 120984388-120984392 |
| 88 | CACNA1C | 12 | 0.99649443682365 | 23 | 6561 | 2676755-2676770, 2794934-2794940 |
| 89 | VWF | 12 | 0.98365316275764 | 138 | 8442 | 6122647-6122650, 6125328-6125344, 6125722-6125728, 6125816, 6127532-6127538, 6127655-6127661, 6128064-6128087, 6128170, 6128342, 6128449-6128451, 6131926-6131932, 6131955-6131982, 6132003-6132033 |
| 90 | ATN1 | 12 | 0.97481108312343 | 90 | 3573 | 7045888-7045942, 7046131-7046165 |
| 91 | ABCC9 | 12 | 0.99978494623656 | 1 | 4650 | 22025633 |
| 92 | KRAS | 12 | 0.9859649122807 | 8 | 570 | 25380284-25380291 |
| 93 | LRRK2 | 12 | 0.99485759493671 | 39 | 7584 | 40761446-40761460, 40761501-40761524 |
| 94 | IRAK4 | 12 | 0.98626174981923 | 19 | 1383 | 44180324-44180342 |
| 95 | COL2A1 | 12 | 0.99955197132616 | 2 | 4464 | 48377870-48377871 |
| 96 | MLL2 | 12 | 0.9989767665824 | 17 | 16614 | 49424132-49424133, 49426624-49426626, 49426730-49426732, 49426913-49426914, 49427266-49427268, 49431291-49431294 |
| 97 | DHH | 12 | 0.99916036943745 | 1 | 1191 | 49483800 |
| 98 | TUBA1A | 12 | 0.91228070175439 | 40 | 456 | 49522258-49522290, 49522386, 49522445, 49522457, 49522468, 49522575, 49522585, 49522624 |
| 99 | KRT81 | 12 | 0.99472990777339 | 8 | 1518 | 52682999-52683005, 52684040 |
| 100 | KRT86 | 12 | 0.99931553730322 | 1 | 1461 | 52697952 |
| 101 | KRT6B | 12 | 0.96578171091445 | 58 | 1695 | 52843632-52843637, 52845432-52845438, 52845571-52845608, 52845798-52845804 |
| 102 | KRT6C | 12 | 0.98702064896755 | 22 | 1695 | 52865295-52865300, 52867094, 52867105, 52867230-52867236, 52867457-52867463 |
| 103 | KRT6A | 12 | 0.9952802359882 | 8 | 1695 | 52884735, 52886908-52886914 |
| 104 | LEMD3 | 12 | 0.99963450292398 | 1 | 2736 | 65563625 |
| 105 | CEP290 | 12 | 0.99986559139785 | 1 | 7440 | 88480187 |
| 106 | MYL2 | 12 | 0.99600798403194 | 2 | 501 | 111348881-111348882 |
| 107 | ATXN2 | 12 | 0.89421613394216 | 417 | 3942 | 112036613-112036827, 112036848-112036855, 112036911-112036933, 112036938-112036958, 112036969-112036982, 112036985-112037018, 112037021-112037056, 112037058, 112037070-112037083, 112037097-112037112, 112037131, 112037197-112037222, 112037273-112037280 |
| 108 | HNF1A | 12 | 0.99314345991561 | 13 | 1896 | 121434199-121434200, 121434353-121434360, 121437382, 121437407-121437408 |
| 109 | HPD | 12 | 0.99746192893401 | 3 | 1182 | 122295333-122295335 |
| 110 | PUS1 | 12 | 0.99766355140187 | 3 | 1284 | 132414278-132414280 |
| 111 | B3GALTL | 13 | 0.98997995991984 | 15 | 1497 | 31774236-31774237, 31774252-31774254, 31774257, 31774263-31774271 |
| 112 | BRCA2 | 13 | 0.99980501121186 | 2 | 10257 | 32903625-32903626 |
| 113 | FREM2 | 13 | 0.99957939011567 | 4 | 9510 | 39261568-39261570, 39261910 |
| 114 | ZIC2 | 13 | 0.93245778611632 | 108 | 1599 | 100634394-100634396, 100634402, 100634408-100634410, 100635008-100635010, 100637687-100637702, 100637745-100637752, 100637806, 100637817-100637853, 100637867, 100637880-100637900, 100637923-100637936 |
| 115 | COL4A1 | 13 | 0.99740518962076 | 13 | 5010 | 110959333-110959345 |
| 116 | F7 | 13 | 0.52659176029963 | 632 | 1335 | 113760158-113760206, 113765004-113765019, 113765023-113765024, 113765038-113765057, 113765076, 113765086-113765164, 113768269-113768274, 113769974-113770010, 113770029, 113770035-113770048, 113770053-113770065, 113770075-113770081, 113770088-113770114, 113771096-113771104, 113771171-113771172, 113771809-113771830, 113771904-113771910, 113772727-113772740, 113772754, 113772767-113772769, 113772772-113772777, 113772802-113772818, 113772831, 113772835-113772864, 113772879, 113772882-113772883, 113772887-113772902, 113772915, 113772927-113772970, 113772997-113773003, 113773010-113773039, 113773060-113773072, 113773136, 113773168-113773193, 113773205-113773282, 113773294-113773322 |
| 117 | F10 | 13 | 0.98636673483299 | 20 | 1467 | 113777180-113777182, 113777209-113777216, 113777221-113777223, 113798402-113798406, 113803572 |
| 118 | PABPN1 | 14 | 0.99674267100977 | 3 | 921 | 23790681-23790683 |
| 119 | MYH6 | 14 | 0.99725085910653 | 16 | 5820 | 23869539-23869554 |
| 120 | MYH7 | 14 | 0.9991391184573 | 5 | 5808 | 23894010-23894014 |
| 121 | TGM1 | 14 | 0.99551752241239 | 11 | 2454 | 24723948, 24724312-24724317, 24724437, 24728941-24728943 |
| 122 | FOXG1 | 14 | 0.84829931972789 | 223 | 1470 | 29236634, 29236683-29236725, 29236733-29236738, 29236748-29236752, 29236761-29236860, 29236876-29236877, 29236883-29236886, 29236895, 29236902-29236909, 29236912-29236958, 29236961-29236962, 29236986, 29236990-29236992 |
| 123 | NKX2-1 | 14 | 0.98673300165837 | 16 | 1206 | 36986877, 36988378-36988392 |
| 124 | FANCM | 14 | 0.99967463803481 | 2 | 6147 | 45623962, 45623968 |
| 125 | TTC8 | 14 | 0.99612403100775 | 6 | 1548 | 89305854, 89310181-89310185 |
| 126 | ATXN3 | 14 | 0.98710865561694 | 14 | 1086 | 92537327-92537340 |
| 127 | VRK1 | 14 | 0.99916036943745 | 1 | 1191 | 97304147 |
| 128 | AMN | 14 | 0.19309838472834 | 1099 | 1362 | 103389026-103389031, 103389043-103389068, 103390065, 103390086-103390125, 103390134, 103390138-103390139, 103390144, 103390147-103390159, 103390292-103390297, 103394763-103394780, 103394790-103394822, 103394830-103394850, 103395095-103395232, 103395239-103395312, 103395458-103395584, 103395765-103395773, 103395786-103395788, 103395795-103395805, 103395846-103395873, 103395992-103396000, 103396014, 103396043-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103396953, 103396974-103397017 |
| 129 | INF2 | 14 | 0.72026666666667 | 1049 | 3750 | 105167713, 105167716, 105167768, 105167853, 105167947-105167992, 105169648, 105169707-105169714, 105169766-105169781, 105170253-105170286, 105172377-105172391, 105172396-105172397, 105172426, 105173671-105173714, 105173720-105173801, 105173809-105173834, 105173851-105173880, 105173908-105174149, 105174175-105174192, 105174198-105174222, 105174243-105174258, 105174271, 105174309, 105174315-105174339, 105174782-105174787, 105174834-105174837, 105174882-105174908, 105174917-105174924, 105176027, 105176430, 105176435-105176436, 105176498, 105176523-105176525, 105177274-105177281, 105177310-105177344, 105177433, 105177454-105177523, 105178006-105178018, 105178021-105178022, 105178770-105178787, 105178838, 105179165-105179180, 105179258-105179285, 105179574, 105179579, 105179582-105179583, 105179587-105179599, 105179611-105179613, 105179625-105179643, 105179782-105179789, 105179855, 105179862, 105179923-105179943, 105180556, 105180565, 105180619, 105180638, 105180649-105180651, 105180656-105180657, 105180729-105180748, 105180760, 105180921, 105180953-105180980, 105180992-105181024, 105181029, 105181051-105181052, 105181092, 105181097 |
| 130 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 131 | SPRED1 | 15 | 0.99925093632959 | 1 | 1335 | 38614525 |
| 132 | CHST14 | 15 | 0.96286472148541 | 42 | 1131 | 40763451-40763482, 40763501-40763503, 40763517, 40763530, 40763582-40763585, 40763811 |
| 133 | STRC | 15 | 0.98536036036036 | 78 | 5328 | 43906394-43906427, 43910863-43910906 |
| 134 | DUOX2 | 15 | 0.99978480740263 | 1 | 4647 | 45403589 |
| 135 | CLN6 | 15 | 0.99358974358974 | 6 | 936 | 68500486-68500491 |
| 136 | HCN4 | 15 | 0.97840531561462 | 78 | 3612 | 73614893-73614895, 73660180, 73660215-73660216, 73660330-73660370, 73660427-73660457 |
| 137 | MPI | 15 | 0.99764150943396 | 3 | 1272 | 75182892-75182894 |
| 138 | PSTPIP1 | 15 | 0.2501998401279 | 938 | 1251 | 77310489-77310569, 77310586-77310589, 77310798-77310803, 77310815-77310821, 77310833-77310872, 77317625-77317626, 77317633-77317659, 77317839-77317854, 77317898-77317914, 77317919, 77320254, 77320895-77320925, 77320930, 77320949-77320982, 77321879-77321880, 77321891, 77321894-77321900, 77321914, 77322843-77322922, 77323521, 77323538-77323619, 77324639-77324701, 77324716-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 139 | POLG | 15 | 0.99758064516129 | 9 | 3720 | 89876828-89876836 |
| 140 | MESP2 | 15 | 0.9748743718593 | 30 | 1194 | 90319838-90319860, 90320146, 90320149, 90320159-90320161, 90320221-90320222 |
| 141 | BLM | 15 | 0.98472026328162 | 65 | 4254 | 91328231, 91337397-91337402, 91337459-91337479, 91337505-91337515, 91337536, 91337540-91337548, 91337572-91337587 |
| 142 | IGF1R | 15 | 0.99975633528265 | 1 | 4104 | 99192891 |
| 143 | HBZ | 16 | 0.80652680652681 | 83 | 429 | 202912, 203901, 204000, 204048-204050, 204055, 204063-204092, 204281-204315, 204372-204382 |
| 144 | HBA2 | 16 | 0.997668997669 | 1 | 429 | 223495 |
| 145 | GNPTG | 16 | 0.96514161220044 | 32 | 918 | 1401967-1401983, 1402010-1402018, 1402283-1402284, 1402289-1402292 |
| 146 | CLCN7 | 16 | 0.78577336641853 | 518 | 2418 | 1497017-1497061, 1497082-1497086, 1497395, 1497421-1497430, 1497436-1497493, 1497528-1497552, 1497656-1497682, 1498762-1498767, 1498979-1499072, 1499277-1499297, 1500531, 1500534, 1500554, 1500593-1500635, 1500645-1500667, 1505171, 1506151, 1506165-1506207, 1509125-1509136, 1509175-1509187, 1524835-1524840, 1524873-1524944, 1524967-1524975 |
| 147 | IGFALS | 16 | 0.87577639751553 | 240 | 1932 | 1840613-1840647, 1840656-1840663, 1840691-1840716, 1840878-1840916, 1840963-1840970, 1841040-1841052, 1841156-1841170, 1841213-1841215, 1841223-1841229, 1841270, 1841306-1841324, 1841459-1841460, 1841524-1841530, 1841535-1841544, 1841623-1841646, 1841899-1841905, 1842015-1842020, 1842199-1842200, 1842209, 1842387-1842391, 1842446-1842447 |
| 148 | GFER | 16 | 0.6504854368932 | 216 | 618 | 2034220-2034233, 2034237, 2034273-2034362, 2034374-2034432, 2034441-2034456, 2034461-2034470, 2034748-2034752, 2034772-2034784, 2034897, 2034913, 2035917, 2035921-2035924, 2035929 |
| 149 | TSC2 | 16 | 0.51659292035398 | 2622 | 5424 | 2098712-2098722, 2103446-2103451, 2108788, 2110713, 2110777-2110807, 2112980, 2113021-2113025, 2114378-2114379, 2115625-2115636, 2120488, 2120548, 2120551-2120569, 2121524, 2121543-2121544, 2121584-2121585, 2121608, 2121611-2121617, 2121813-2121820, 2121841-2121888, 2121901-2121922, 2122242-2122261, 2122336, 2122344-2122362, 2122907, 2122937-2122971, 2124279-2124310, 2124332, 2124340-2124390, 2125800-2125802, 2125806-2125808, 2126070-2126104, 2126137, 2126140, 2126146-2126150, 2126154-2126159, 2126499-2126510, 2126568-2126586, 2127599, 2127638-2127639, 2127645, 2127651-2127652, 2127666, 2127690, 2127701-2127727, 2129033-2129101, 2129159-2129197, 2129278-2129333, 2129337, 2129357-2129401, 2129411, 2129424-2129429, 2129558-2129559, 2129567-2129659, 2130166-2130377, 2131612-2131799, 2132437-2132438, 2132448-2132478, 2132500-2132505, 2133696-2133771, 2133780-2133785, 2133788-2133817, 2134229-2134279, 2134285-2134459, 2134478-2134484, 2134489, 2134512-2134515, 2134519-2134639, 2134646-2134711, 2134961-2135027, 2135242-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138234-2138307, 2138309, 2138318-2138326, 2138447-2138502, 2138527-2138611 |
| 150 | PKD1 | 16 | 0.012469021065675 | 12751 | 12912 | 2139728-2139983, 2139992-2140195, 2140286-2140447, 2140459-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142071, 2142080-2142161, 2142170-2142184, 2142188, 2142483-2142593, 2142955-2142991, 2143005-2143066, 2143078-2143094, 2143545-2143556, 2143570-2143666, 2143687-2143693, 2143701, 2143704-2143714, 2143717-2143734, 2143812-2144014, 2144093-2144156, 2144167-2144201, 2147149-2147236, 2147320-2147489, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168820, 2168827-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690 |
| 151 | ABCA3 | 16 | 0.98866080156403 | 58 | 5115 | 2328299-2328301, 2331423, 2333187-2333221, 2334345-2334361, 2334976, 2349407 |
| 152 | MEFV | 16 | 0.99914748508099 | 2 | 2346 | 3306357-3306358 |
| 153 | GLIS2 | 16 | 0.48634920634921 | 809 | 1575 | 4382302, 4382412, 4382425, 4383390-4383393, 4383464, 4383471, 4383474-4383479, 4383513, 4384802-4384859, 4384895-4384924, 4384935-4384978, 4385088, 4385124, 4385138-4385166, 4385183-4385185, 4385189-4385194, 4385334-4385374, 4385387-4385394, 4386726-4386748, 4386774, 4386806-4386833, 4386840-4386841, 4386880-4387111, 4387121-4387173, 4387197-4387224, 4387236-4387283, 4387299-4387303, 4387315-4387317, 4387321, 4387337-4387338, 4387349, 4387356, 4387359, 4387364-4387504, 4387515, 4387521 |
| 154 | ALG1 | 16 | 0.88673835125448 | 158 | 1395 | 5121896, 5128797-5128803, 5128835-5128839, 5128853-5128870, 5129065-5129076, 5130962-5131008, 5131015-5131041, 5132633-5132663, 5134818, 5134874-5134882 |
| 155 | ABCC6 | 16 | 0.92575354609929 | 335 | 4512 | 16255312-16255313, 16256965-16257002, 16257039-16257045, 16259481-16259519, 16259527-16259532, 16259541-16259552, 16259578-16259588, 16259638, 16259642-16259644, 16259676, 16263518-16263566, 16263617-16263651, 16263667, 16263670, 16263700-16263710, 16267141-16267175, 16267199, 16267203-16267205, 16269796-16269824, 16271423-16271443, 16271457, 16271479, 16272754-16272760, 16276429-16276432, 16276700-16276706, 16276713-16276720, 16291953 |
| 156 | CLN3 | 16 | 0.99772209567198 | 3 | 1317 | 28497673-28497675 |
| 157 | ATP2A1 | 16 | 0.99966733200266 | 1 | 3006 | 28893878 |
| 158 | FUS | 16 | 0.99936748893106 | 1 | 1581 | 31195686 |
| 159 | CYLD | 16 | 0.99965059399022 | 1 | 2862 | 50826565 |
| 160 | SALL1 | 16 | 0.99974842767296 | 1 | 3975 | 51175658 |
| 161 | MMP2 | 16 | 0.99949571356531 | 1 | 1983 | 55513392 |
| 162 | SLC12A3 | 16 | 0.99579696087941 | 13 | 3093 | 56901106-56901112, 56911998-56911999, 56913015-56913018 |
| 163 | HSD11B2 | 16 | 0.88916256157635 | 135 | 1218 | 67465152-67465228, 67465244-67465300, 67465395 |
| 164 | LCAT | 16 | 0.99092970521542 | 12 | 1323 | 67973937, 67974038, 67974102, 67976397, 67976416, 67976443, 67976784, 67976787, 67976978-67976980, 67976994 |
| 165 | CDH3 | 16 | 0.99799196787149 | 5 | 2490 | 68725807, 68725825-68725828 |
| 166 | CDH1 | 16 | 0.99886749716874 | 3 | 2649 | 68771348-68771350 |
| 167 | COG8 | 16 | 0.94399129961936 | 103 | 1839 | 69364771-69364813, 69364829-69364831, 69373079, 69373128, 69373184, 69373212, 69373215, 69373219-69373241, 69373244, 69373269-69373270, 69373394-69373419 |
| 168 | HP | 16 | 0.999180999181 | 1 | 1221 | 72092158 |
| 169 | GCSH | 16 | 0.90613026819923 | 49 | 522 | 81124272, 81129795-81129826, 81129866-81129881 |
| 170 | MLYCD | 16 | 0.96896086369771 | 46 | 1482 | 83932836-83932842, 83932875-83932882, 83932992-83932993, 83932997, 83933097-83933122, 83933158-83933159 |
| 171 | FOXF1 | 16 | 0.9859649122807 | 16 | 1140 | 86544223-86544238 |
| 172 | FOXC2 | 16 | 0.93293492695883 | 101 | 1506 | 86601549, 86601552, 86601557, 86601612-86601619, 86601625-86601672, 86601708, 86601787-86601794, 86601864, 86601868-86601876, 86601987-86602009 |
| 173 | JPH3 | 16 | 0.95549621717846 | 100 | 2247 | 87636882, 87723375, 87723496-87723506, 87723526-87723530, 87723534-87723562, 87723959-87723980, 87724001-87724031 |
| 174 | CYBA | 16 | 0.63945578231293 | 212 | 588 | 88709761-88709779, 88709797-88709874, 88709897-88709904, 88709910-88709911, 88709919, 88709925, 88709935-88709979, 88712579-88712590, 88713190-88713196, 88713236-88713237, 88713558-88713564, 88714512, 88714517-88714522, 88717364-88717379, 88717386, 88717408, 88717416-88717418, 88717420-88717421 |
| 175 | APRT | 16 | 0.68508287292818 | 171 | 543 | 88876175-88876210, 88876497-88876501, 88876547-88876548, 88876552, 88876855-88876859, 88876902-88876905, 88877968-88877988, 88877996, 88878030-88878064, 88878230-88878286, 88878304-88878307 |
| 176 | GALNS | 16 | 0.80178457616316 | 311 | 1569 | 88880887, 88884427-88884513, 88888997-88889001, 88889031, 88889035, 88889090-88889104, 88891193-88891199, 88891251-88891257, 88893140-88893154, 88902249, 88907418-88907453, 88908305, 88909125-88909174, 88923166-88923217, 88923240-88923271 |
| 177 | SPG7 | 16 | 0.99455611390285 | 13 | 2388 | 89619537-89619541, 89623469-89623475, 89623479 |
| 178 | FANCA | 16 | 0.98351648351648 | 72 | 4368 | 89805068, 89805086, 89805097-89805107, 89805114-89805116, 89806444-89806445, 89816143, 89837008-89837011, 89838108, 89842157-89842177, 89882976-89883002 |
| 179 | TUBB3 | 16 | 0.95048041389505 | 67 | 1353 | 89989858-89989866, 89998986-89998987, 89998990-89998991, 90001444, 90001447, 90001450, 90001731-90001732, 90001736-90001737, 90001744-90001745, 90001794-90001795, 90001800, 90001908-90001938, 90002185-90002195 |
| 180 | CTNS | 17 | 0.99334995843724 | 8 | 1203 | 3559793-3559795, 3559802, 3559845-3559848 |
| 181 | CHRNE | 17 | 0.99392712550607 | 9 | 1482 | 4802317-4802319, 4802323-4802326, 4804193, 4804431 |
| 182 | PITPNM3 | 17 | 0.97196581196581 | 82 | 2925 | 6358688-6358726, 6358738, 6358741, 6358782-6358799, 6374498, 6459705-6459726 |
| 183 | ACADVL | 17 | 0.99390243902439 | 12 | 1968 | 7123441-7123452 |
| 184 | CHRNB1 | 17 | 0.99667994687915 | 5 | 1506 | 7348466-7348470 |
| 185 | RAI1 | 17 | 0.99248383149799 | 43 | 5721 | 17697094-17697096, 17697608-17697609, 17697615-17697618, 17698281-17698287, 17698864-17698868, 17712732-17712753 |
| 186 | MYO15A | 17 | 0.90786368356462 | 976 | 10593 | 18022135-18022139, 18022452-18022458, 18022477, 18022487-18022488, 18022740, 18023073-18023094, 18023097, 18023262, 18023459, 18023486, 18023644-18023646, 18023718-18023754, 18023784-18023785, 18023863, 18023870, 18023875, 18023891-18023907, 18023910-18023911, 18023977-18023987, 18023998-18024300, 18024332-18024363, 18024374-18024433, 18024439-18024486, 18024516-18024544, 18024561-18024563, 18024566-18024581, 18024585, 18024588-18024627, 18024630, 18024645-18024651, 18024671-18024695, 18024723-18024748, 18024776-18024815, 18024843-18024869, 18024885-18024896, 18024934-18024969, 18025025, 18025031, 18025051-18025076, 18025083-18025084, 18025126, 18025129, 18025194-18025196, 18025264-18025265, 18025337, 18025391-18025419, 18025625-18025633, 18027856, 18043975-18043979, 18044980, 18045399, 18045402-18045411, 18046077, 18046892, 18046898, 18057103-18057133, 18057167, 18061165-18061172, 18070962-18070977 |
| 187 | UNC119 | 17 | 0.88934993084371 | 80 | 723 | 26879360-26879362, 26879366-26879372, 26879383, 26879389-26879441, 26879552-26879567 |
| 188 | SLC6A4 | 17 | 0.9878499735869 | 23 | 1893 | 28543183-28543193, 28543223-28543234 |
| 189 | NF1 | 17 | 0.99917840375587 | 7 | 8520 | 29663351-29663357 |
| 190 | KRT10 | 17 | 0.9982905982906 | 3 | 1755 | 38975327-38975329 |
| 191 | KRT14 | 17 | 0.8907681465821 | 155 | 1419 | 39739487-39739515, 39741304-39741309, 39742627-39742648, 39742829-39742872, 39742961-39743005, 39743078-39743086 |
| 192 | KRT16 | 17 | 0.89240506329114 | 153 | 1422 | 39766192-39766202, 39766280-39766281, 39767741-39767753, 39768490-39768531, 39768706-39768746, 39768816-39768859 |
| 193 | KRT17 | 17 | 0.86682063125481 | 173 | 1299 | 39776911-39776944, 39776982, 39777988-39778006, 39780330-39780351, 39780378-39780420, 39780465-39780471, 39780516-39780522, 39780582-39780588, 39780673, 39780693-39780723, 39780761 |
| 194 | FKBP10 | 17 | 0.96740994854202 | 57 | 1749 | 39969313, 39969325-39969363, 39969398-39969399, 39969411-39969415, 39969516, 39969523-39969525, 39974503, 39974643-39974646, 39975826 |
| 195 | NAGLU | 17 | 0.98924731182796 | 24 | 2232 | 40688395-40688412, 40688465-40688470 |
| 196 | ITGA2B | 17 | 0.99807692307692 | 6 | 3120 | 42460946, 42460949-42460950, 42460955, 42460972-42460973 |
| 197 | SGCA | 17 | 0.99914089347079 | 1 | 1164 | 48252692 |
| 198 | COL1A1 | 17 | 0.99112627986348 | 39 | 4395 | 48264016-48264017, 48265495, 48265500-48265501, 48276608-48276641 |
| 199 | CA4 | 17 | 0.99787007454739 | 2 | 939 | 58227396-58227397 |
| 200 | ACE | 17 | 0.9737311910227 | 103 | 3921 | 61554456-61554457, 61554465-61554532, 61554565-61554571, 61554668-61554671, 61554694-61554700, 61561813-61561822, 61566115-61566119 |
| 201 | DNAI2 | 17 | 0.998899889989 | 2 | 1818 | 72308327-72308328 |
| 202 | TSEN54 | 17 | 0.90259329538267 | 154 | 1581 | 73512650-73512653, 73512664-73512666, 73512827-73512873, 73512897-73512936, 73512953-73512957, 73513107-73513109, 73513113-73513152, 73518306-73518316, 73518358 |
| 203 | ITGB4 | 17 | 0.98390930700311 | 88 | 5469 | 73726555-73726580, 73726973-73726975, 73738814-73738819, 73738822-73738823, 73748606-73748607, 73749949-73749950, 73750055, 73751791-73751797, 73751831-73751855, 73752595-73752599, 73752795-73752797, 73753142-73753144, 73753525-73753527 |
| 204 | GALK1 | 17 | 0.97370653095844 | 31 | 1179 | 73754198-73754205, 73754554-73754568, 73754599-73754601, 73761180-73761184 |
| 205 | UNC13D | 17 | 0.96730827986557 | 107 | 3273 | 73824084-73824088, 73825009, 73826443-73826470, 73826703, 73827231, 73830528-73830530, 73830731, 73831023, 73831536, 73832102, 73832742-73832777, 73838672-73838679, 73839001, 73839135-73839146, 73839271-73839275, 73839323, 73839341 |
| 206 | ACOX1 | 17 | 0.99243570347958 | 15 | 1983 | 73945348-73945351, 73953562-73953572 |
| 207 | SEPT9 | 17 | 0.88131743327655 | 209 | 1761 | 75277620-75277636, 75478226, 75478286-75478292, 75478364, 75478375, 75478389, 75483519-75483540, 75483603-75483629, 75484820, 75484841-75484842, 75484859-75484867, 75484910-75484917, 75484940-75484946, 75488744-75488748, 75494605-75494646, 75494659-75494709, 75494715, 75494722-75494727 |
| 208 | GAA | 17 | 0.98915704791885 | 31 | 2859 | 78078610, 78078613-78078615, 78078701-78078721, 78082140-78082141, 78082378, 78082569, 78082592, 78086810 |
| 209 | SGSH | 17 | 0.97813121272366 | 33 | 1509 | 78184355, 78184749, 78184772-78184779, 78185949, 78190865, 78190868-78190870, 78190876-78190877, 78194082-78194097 |
| 210 | ACTG1 | 17 | 0.93617021276596 | 72 | 1128 | 79477953, 79477967-79477969, 79478007, 79478019, 79478333-79478361, 79478521, 79478583-79478591, 79479267-79479293 |
| 211 | FSCN2 | 17 | 0.37660581473969 | 922 | 1479 | 79495558-79495564, 79495569, 79495651-79495671, 79495717-79495754, 79495764-79495833, 79495870, 79495883-79495922, 79495958-79496047, 79496078, 79496105-79496154, 79496173, 79496199-79496227, 79496273, 79496279, 79496283-79496304, 79496317-79496330, 79496337-79496342, 79496361-79496383, 79502088-79502154, 79502165-79502198, 79502227, 79503172-79503178, 79503199-79503209, 79503216, 79503266-79503277, 79503286-79503293, 79503648-79503691, 79503701-79503815, 79503901-79504106 |
| 212 | LPIN2 | 18 | 0.99888517279822 | 3 | 2691 | 2951113-2951115 |
| 213 | AFG3L2 | 18 | 0.99122807017544 | 21 | 2394 | 12376990-12377002, 12377033-12377039, 12377050 |
| 214 | DSC2 | 18 | 0.99260901699926 | 20 | 2706 | 28669449-28669468 |
| 215 | LOXHD1 | 18 | 0.99834237492465 | 11 | 6636 | 44104529-44104539 |
| 216 | MYO5B | 18 | 0.99783666846944 | 12 | 5547 | 47364149-47364155, 47721156-47721160 |
| 217 | CCBE1 | 18 | 0.97706797706798 | 28 | 1221 | 57134084-57134111 |
| 218 | TNFRSF11A | 18 | 0.9708265802269 | 54 | 1851 | 59992586-59992639 |
| 219 | CTDP1 | 18 | 0.94663894663895 | 154 | 2886 | 77439948-77439976, 77439990-77440016, 77440030-77440087, 77440106, 77440171-77440203, 77440253, 77440258, 77496470-77496473 |
| 220 | ELANE | 19 | 0.28233830845771 | 577 | 804 | 852329-852350, 852880-853032, 853262-853284, 853290-853390, 853397-853403, 855564-855672, 855688, 855700, 855706-855727, 855736-855739, 855750, 855753-855765, 855768-855777, 855958-855966, 855972-855986, 855993-855996, 856010-856044, 856082-856093, 856130-856164 |
| 221 | KISS1R | 19 | 0.84210526315789 | 189 | 1197 | 917515-917563, 917604-917631, 917638-917647, 917650-917651, 918581, 918584-918586, 918648-918668, 920302-920329, 920331-920333, 920338-920344, 920362, 920367-920381, 920572, 920631, 920642, 920646, 920697-920712, 920744 |
| 222 | STK11 | 19 | 0.55760368663594 | 576 | 1302 | 1207030, 1218470-1218472, 1218481-1218499, 1219323-1219333, 1219340, 1219345-1219352, 1219372, 1219408-1219412, 1220372-1220376, 1220388-1220428, 1220437-1220486, 1220597-1220635, 1220639-1220653, 1220660, 1220706-1220716, 1221212, 1221230-1221339, 1221948-1221950, 1221954-1221956, 1221961-1221966, 1222000-1222005, 1222984-1223001, 1223018-1223037, 1223054-1223085, 1223119-1223171, 1226464-1226469, 1226515-1226568, 1226594-1226646 |
| 223 | NDUFS7 | 19 | 0.81308411214953 | 120 | 642 | 1387810-1387814, 1387817, 1388528-1388532, 1388563-1388564, 1388571, 1393253-1393296, 1395391-1395397, 1395425-1395429, 1395438-1395487 |
| 224 | GAMT | 19 | 0.90740740740741 | 75 | 810 | 1398676-1398679, 1398725-1398728, 1398834-1398881, 1398890-1398897, 1398941, 1399855, 1401425, 1401430-1401437 |
| 225 | RAX2 | 19 | 0.86846846846847 | 73 | 555 | 3770669-3770673, 3770682, 3770771-3770780, 3770785-3770786, 3770794, 3770817-3770822, 3770879-3770891, 3770909-3770936, 3771596-3771600, 3771604-3771605 |
| 226 | MAP2K2 | 19 | 0.89858686616791 | 122 | 1203 | 4090596-4090601, 4090676, 4094494-4094496, 4095415-4095417, 4097328-4097341, 4099258-4099259, 4102449, 4123781-4123872 |
| 227 | NDUFA11 | 19 | 0.99295774647887 | 3 | 426 | 5903623-5903624, 5903628 |
| 228 | INSR | 19 | 0.98939503494818 | 44 | 4149 | 7132173, 7132299-7132324, 7152775-7152791 |
| 229 | PNPLA6 | 19 | 0.97916666666667 | 83 | 3984 | 7606916-7606925, 7614843-7614860, 7615880-7615881, 7615893, 7615912, 7615964-7615993, 7616280-7616300 |
| 230 | ADAMTS10 | 19 | 0.9987922705314 | 4 | 3312 | 8654429-8654432 |
| 231 | TYK2 | 19 | 0.92901234567901 | 253 | 3564 | 10463140-10463143, 10463209-10463227, 10463629, 10463693-10463694, 10463703-10463764, 10464211-10464225, 10464301-10464314, 10464733-10464737, 10467244-10467249, 10468445, 10468459-10468508, 10468810, 10469864-10469884, 10469963, 10469973, 10469978, 10475444-10475447, 10476444, 10476450, 10477102, 10488982-10488990, 10488994, 10488997-10488999, 10489014-10489017, 10489025-10489049 |
| 232 | DNM2 | 19 | 0.99732108687333 | 7 | 2613 | 10897326-10897332 |
| 233 | PRKCSH | 19 | 0.99810964083176 | 3 | 1587 | 11558341-11558343 |
| 234 | MAN2B1 | 19 | 0.99143610013175 | 26 | 3036 | 12768291-12768316 |
| 235 | CACNA1A | 19 | 0.98976199973408 | 77 | 7521 | 13318413, 13318538-13318541, 13318567-13318599, 13318654-13318668, 13318672-13318678, 13318694-13318697, 13318756-13318762, 13318810, 13319692-13319696 |
| 236 | NOTCH3 | 19 | 0.97817973011771 | 152 | 6966 | 15276857-15276871, 15302245-15302261, 15302327, 15302462-15302468, 15302771-15302778, 15302882, 15303069-15303108, 15303298, 15311619-15311621, 15311626-15311629, 15311637, 15311641, 15311649-15311701 |
| 237 | JAK3 | 19 | 0.99555555555556 | 15 | 3375 | 17940961, 17953185, 17953240-17953252 |
| 238 | SLC5A5 | 19 | 0.99948240165631 | 1 | 1932 | 17983276 |
| 239 | IL12RB1 | 19 | 0.98692810457516 | 26 | 1989 | 18191773-18191788, 18197585-18197593, 18197618 |
| 240 | COMP | 19 | 0.9608619173263 | 89 | 2274 | 18896526-18896533, 18896781-18896789, 18896821, 18896845-18896847, 18899993-18900001, 18900057-18900069, 18900807, 18900848-18900868, 18901660-18901677, 18901721-18901726 |
| 241 | CEBPA | 19 | 0.83101207056639 | 182 | 1077 | 33792743, 33792754-33792757, 33792764-33792765, 33792851, 33792900-33792928, 33792930, 33792952, 33792955-33792961, 33792971-33792975, 33793007-33793045, 33793149-33793151, 33793154-33793159, 33793163-33793176, 33793197-33793248, 33793280-33793287, 33793312-33793320 |
| 242 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 243 | HAMP | 19 | 0.98823529411765 | 3 | 255 | 35773520-35773522 |
| 244 | MAG | 19 | 0.9351408825093 | 122 | 1881 | 35790478-35790515, 35790529-35790538, 35790555, 35790570, 35790583, 35790592-35790593, 35790635-35790636, 35790644-35790647, 35790650, 35790695-35790706, 35790729-35790753, 35791075-35791085, 35791089, 35791093, 35791130-35791132, 35791135-35791142, 35791149 |
| 245 | TYROBP | 19 | 0.87905604719764 | 41 | 339 | 36398362-36398379, 36398416, 36398423-36398433, 36399104-36399114 |
| 246 | WDR62 | 19 | 0.99956255468066 | 2 | 4572 | 36580205, 36595851 |
| 247 | RYR1 | 19 | 0.98147780644308 | 280 | 15117 | 38931473-38931477, 38987053, 38987529-38987542, 38987549-38987550, 38987553, 39055747-39055748, 39055751-39055792, 39055816-39055852, 39055905-39055998, 39056007-39056038, 39056058-39056064, 39056209, 39056212-39056215, 39056218-39056239, 39056301-39056316 |
| 248 | ACTN4 | 19 | 0.9656432748538 | 94 | 2736 | 39138427-39138440, 39138505-39138531, 39214675-39214680, 39215075, 39218643, 39218655-39218658, 39219779-39219794, 39220034-39220058 |
| 249 | DLL3 | 19 | 0.99730748519117 | 5 | 1857 | 39993568-39993569, 39993602, 39998039-39998040 |
| 250 | PRX | 19 | 0.99110807113543 | 39 | 4386 | 40903479, 40909621, 40909632-40909646, 40909723-40909744 |
| 251 | TGFB1 | 19 | 0.99658994032396 | 4 | 1173 | 41838167, 41854247-41854248, 41858935 |
| 252 | ATP1A3 | 19 | 0.99510603588907 | 18 | 3678 | 42470868-42470870, 42470907, 42470959-42470965, 42471036-42471042 |
| 253 | BCAM | 19 | 0.95548489666137 | 84 | 1887 | 45312382-45312463, 45324046, 45324051 |
| 254 | ERCC2 | 19 | 0.97766097240473 | 51 | 2283 | 45867108-45867115, 45867495-45867496, 45867510-45867514, 45867580-45867585, 45867588-45867589, 45873443-45873470 |
| 255 | SIX5 | 19 | 0.96981981981982 | 67 | 2220 | 46268972-46268981, 46270151-46270160, 46270353, 46270360-46270362, 46271837-46271839, 46271971, 46271977-46271978, 46272027-46272063 |
| 256 | DMPK | 19 | 0.98306878306878 | 32 | 1890 | 46281858-46281860, 46285491-46285501, 46285539-46285541, 46285580-46285594 |
| 257 | FKRP | 19 | 0.91263440860215 | 130 | 1488 | 47259069, 47259072, 47259267, 47259281-47259282, 47259288, 47259295, 47259372-47259386, 47259491-47259494, 47259585, 47259592, 47259642-47259692, 47259711-47259739, 47259745-47259758, 47260138, 47260167-47260170, 47260177-47260179 |
| 258 | DBP | 19 | 0.7321063394683 | 262 | 978 | 49134122, 49134186, 49138838-49138859, 49138870, 49138885-49138927, 49138943-49138953, 49138965, 49138980, 49138985, 49138997-49139017, 49139037-49139054, 49139067-49139178, 49139220-49139247, 49140206 |
| 259 | GYS1 | 19 | 0.96612466124661 | 75 | 2214 | 49485552, 49494585-49494587, 49494674-49494675, 49494704, 49494707, 49494714-49494740, 49496252-49496262, 49496276-49496283, 49496299, 49496302, 49496307-49496318, 49496327, 49496346, 49496365-49496369 |
| 260 | MED25 | 19 | 0.98663101604278 | 30 | 2244 | 50321601-50321624, 50333779, 50335409-50335410, 50338430, 50338851, 50339491 |
| 261 | MYH14 | 19 | 0.99803632793324 | 12 | 6111 | 50770212-50770223 |
| 262 | KCNC3 | 19 | 0.90501319261214 | 216 | 2274 | 50823505-50823515, 50823522, 50823526, 50823566-50823567, 50823578, 50826342-50826351, 50831725-50831731, 50831936-50831959, 50832003, 50832097, 50832099-50832117, 50832191-50832192, 50832202-50832337 |
| 263 | NLRP12 | 19 | 0.94224733207784 | 184 | 3186 | 54301575-54301617, 54304525-54304527, 54307322, 54307369, 54310788-54310791, 54312843-54312865, 54313357, 54313587, 54313590-54313592, 54313597, 54313635-54313636, 54313670-54313692, 54313977-54314008, 54314383-54314428 |
| 264 | PRKCG | 19 | 0.97182425978988 | 59 | 2094 | 54392923, 54392928, 54392934, 54392942, 54392948, 54392958-54392960, 54393238-54393256, 54401839-54401870 |
| 265 | PRPF31 | 19 | 0.658 | 513 | 1500 | 54625257, 54625891-54625938, 54627140-54627147, 54627884-54627889, 54627917-54627921, 54627932-54627937, 54629911, 54629958, 54629961, 54629971-54629992, 54631448-54631455, 54631478-54631575, 54631704-54631752, 54632432-54632435, 54632457-54632481, 54632532-54632560, 54632647-54632745, 54634744-54634797, 54634816-54634863 |
| 266 | TNNT1 | 19 | 0.96958174904943 | 24 | 789 | 55644298, 55645280, 55652273-55652294 |
| 267 | TNNI3 | 19 | 0.99835796387521 | 1 | 609 | 55667693 |
| 268 | TPO | 2 | 0.96181299072091 | 107 | 2802 | 1520655-1520662, 1520676, 1520679-1520723, 1544393-1544437, 1544488-1544495 |
| 269 | KLF11 | 2 | 0.98505523066927 | 23 | 1539 | 10183863-10183885 |
| 270 | APOB | 2 | 0.99802804557406 | 27 | 13692 | 21266757-21266783 |
| 271 | OTOF | 2 | 0.98948948948949 | 63 | 5994 | 26699811-26699818, 26699857-26699911 |
| 272 | SPAST | 2 | 0.98649378714209 | 25 | 1851 | 32288996-32289002, 32289086-32289088, 32289091-32289094, 32289139-32289149 |
| 273 | CYP1B1 | 2 | 0.99754901960784 | 4 | 1632 | 38302411, 38302423-38302425 |
| 274 | SOS1 | 2 | 0.99950024987506 | 2 | 4002 | 39281770-39281771 |
| 275 | ABCG5 | 2 | 0.99948875255624 | 1 | 1956 | 44059006 |
| 276 | MSH6 | 2 | 0.99902032819006 | 4 | 4083 | 48010538-48010541 |
| 277 | EFEMP1 | 2 | 0.99865047233468 | 2 | 1482 | 56094280-56094281 |
| 278 | DYSF | 2 | 0.9998427672956 | 1 | 6360 | 71847720 |
| 279 | SPR | 2 | 0.98346055979644 | 13 | 786 | 73114680-73114692 |
| 280 | ALMS1 | 2 | 0.99896033269354 | 13 | 12504 | 73613032-73613037, 73613043, 73679718, 73747023-73747027 |
| 281 | MOGS | 2 | 0.99960222752586 | 1 | 2514 | 74692279 |
| 282 | GGCX | 2 | 0.99648660518226 | 8 | 2277 | 85788521-85788528 |
| 283 | EIF2AK3 | 2 | 0.9859743360191 | 47 | 3351 | 88926599, 88926726-88926764, 88926774-88926780 |
| 284 | RANBP2 | 2 | 0.95989664082687 | 388 | 9675 | 109345588-109345589, 109352185-109352191, 109357110-109357116, 109363167, 109363251-109363254, 109365376-109365377, 109367720-109367733, 109368074-109368111, 109371656-109371690, 109378581, 109382601-109382607, 109382778-109382793, 109383046-109383090, 109383186-109383210, 109383226-109383274, 109383354-109383371, 109383672-109383720, 109384004-109384038, 109384469, 109384505-109384529, 109384628-109384634 |
| 285 | MERTK | 2 | 0.998 | 6 | 3000 | 112656319-112656323, 112656326 |
| 286 | GLI2 | 2 | 0.99558916194077 | 21 | 4761 | 121555013-121555031, 121746236, 121746240 |
| 287 | PROC | 2 | 0.96825396825397 | 44 | 1386 | 128180647-128180684, 128180701-128180705, 128180933 |
| 288 | CFC1 | 2 | 0.90922619047619 | 61 | 672 | 131280364-131280392, 131280426-131280430, 131280433, 131280440, 131280447, 131280450, 131280455-131280457, 131280742-131280743, 131280799-131280816 |
| 289 | LCT | 2 | 0.9987897648686 | 7 | 5784 | 136558247, 136558250-136558255 |
| 290 | NEB | 2 | 0.99994993491539 | 1 | 19974 | 152432773 |
| 291 | SCN2A | 2 | 0.99983383183782 | 1 | 6018 | 166237677 |
| 292 | CHN1 | 2 | 0.98840579710145 | 16 | 1380 | 175869625-175869640 |
| 293 | HOXD13 | 2 | 0.97771317829457 | 23 | 1032 | 176957619-176957620, 176957664-176957677, 176957711-176957713, 176957966-176957969 |
| 294 | DFNB59 | 2 | 0.98772426817753 | 13 | 1059 | 179318309, 179318317-179318328 |
| 295 | CERKL | 2 | 0.99124452782989 | 14 | 1599 | 182468647-182468648, 182468770-182468781 |
| 296 | ALS2 | 2 | 0.99919581825493 | 4 | 4974 | 202593326-202593329 |
| 297 | BMPR2 | 2 | 0.99935835739493 | 2 | 3117 | 203378480, 203384867 |
| 298 | ACADL | 2 | 0.9984532095901 | 2 | 1293 | 211085387, 211085390 |
| 299 | CPS1 | 2 | 0.99933377748168 | 3 | 4503 | 211455565-211455567 |
| 300 | PNKD | 2 | 0.99568221070812 | 5 | 1158 | 219204548-219204552 |
| 301 | WNT10A | 2 | 0.99202551834131 | 10 | 1254 | 219745753-219745762 |
| 302 | DES | 2 | 0.99009200283086 | 14 | 1413 | 220283259, 220283277-220283279, 220283282, 220283701-220283708, 220283711 |
| 303 | OBSL1 | 2 | 0.98137409945528 | 106 | 5691 | 220416299-220416300, 220417301-220417302, 220417360-220417367, 220417415, 220435375, 220435629-220435676, 220435720-220435721, 220435741-220435744, 220435747-220435748, 220435877-220435887, 220435891, 220435931-220435954 |
| 304 | COL4A3 | 2 | 0.99860363056054 | 7 | 5013 | 228163441-228163447 |
| 305 | CHRND | 2 | 0.99356499356499 | 10 | 1554 | 233390937, 233390943-233390944, 233390974-233390977, 233393659, 233396310, 233396313 |
| 306 | AGXT | 2 | 0.98218829516539 | 21 | 1179 | 241808354-241808360, 241808620-241808626, 241810108-241810114 |
| 307 | D2HGDH | 2 | 0.95913154533844 | 64 | 1566 | 242674640-242674647, 242689587, 242689636-242689642, 242690745, 242695402-242695404, 242695416-242695418, 242707295-242707335 |
| 308 | AVP | 20 | 0.89090909090909 | 54 | 495 | 3063331-3063361, 3063373, 3063641-3063653, 3063693, 3063770, 3063806-3063812 |
| 309 | C20orf7 | 20 | 0.99614643545279 | 4 | 1038 | 13782264-13782267 |
| 310 | SNTA1 | 20 | 0.94202898550725 | 88 | 1518 | 32031148-32031172, 32031175, 32031180-32031181, 32031251-32031261, 32031290, 32031326-32031357, 32031365, 32031402-32031414, 32031420-32031421 |
| 311 | ADA | 20 | 0.99358974358974 | 7 | 1092 | 43257763-43257765, 43257769-43257772 |
| 312 | CTSA | 20 | 0.97728790915164 | 34 | 1497 | 44520234-44520267 |
| 313 | GNAS | 20 | 0.9579945799458 | 31 | 738 | 57415176-57415198, 57415563-57415569, 57415818 |
| 314 | GNAS | 20 | 0.99421965317919 | 18 | 3114 | 57429071-57429078, 57429644-57429653 |
| 315 | COL9A3 | 20 | 0.88710462287105 | 232 | 2055 | 61448417-61448494, 61448934, 61448940-61448964, 61448967-61448968, 61449870-61449874, 61450607, 61451332-61451334, 61453490-61453516, 61453943-61453944, 61455846-61455853, 61456320-61456373, 61457591-61457605, 61461907, 61461917, 61463518-61463526 |
| 316 | CHRNA4 | 20 | 0.096602972399151 | 1702 | 1884 | 61978090-61978215, 61981005-61981111, 61981117-61981159, 61981168-61981279, 61981288-61981763, 61981780-61981783, 61981785-61981787, 61981791, 61981810, 61981838-61982009, 61982026-61982094, 61982105, 61982114-61982163, 61982188-61982208, 61982212-61982253, 61982258, 61982280, 61982291-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517 |
| 317 | KCNQ2 | 20 | 0.73463153875525 | 695 | 2619 | 62037997-62038004, 62038014-62038061, 62038069, 62038086-62038091, 62038215, 62038220, 62038223, 62038268-62038316, 62038346-62038347, 62038352-62038353, 62038371-62038373, 62038408-62038428, 62038452, 62038460-62038462, 62038488, 62038499, 62038512, 62038520-62038522, 62038548-62038555, 62038582-62038611, 62038676, 62038686-62038687, 62038696, 62039766-62039791, 62046299-62046300, 62046305-62046306, 62046377, 62071043-62071061, 62073767, 62073771-62073777, 62073802-62073816, 62076028-62076036, 62076083-62076097, 62076596-62076606, 62076647-62076669, 62076679-62076717, 62078100-62078103, 62078136-62078165, 62103521-62103816 |
| 318 | SOX18 | 20 | 0.44242424242424 | 644 | 1155 | 62679563-62679577, 62679749-62679772, 62679814-62679822, 62679834-62679844, 62679912-62679946, 62679958-62679981, 62680086-62680197, 62680204-62680210, 62680242-62680266, 62680279-62680281, 62680291-62680311, 62680512-62680869 |
| 319 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 320 | RCAN1 | 21 | 0.96179183135705 | 29 | 759 | 35987060, 35987166, 35987244-35987263, 35987270-35987272, 35987275, 35987284, 35987286-35987287 |
| 321 | CLDN14 | 21 | 0.98611111111111 | 10 | 720 | 37833279, 37833560, 37833585-37833588, 37833603-37833606 |
| 322 | AIRE | 21 | 0.50976800976801 | 803 | 1638 | 45705890-45705891, 45705902-45705904, 45705909, 45705916-45705952, 45705959-45706013, 45706457, 45706461, 45706465-45706469, 45706499-45706522, 45706542, 45706861-45706866, 45706870, 45706908-45706947, 45706973-45706990, 45707412, 45707420, 45707443-45707474, 45708262-45708272, 45708277-45708278, 45708285, 45708293, 45708297, 45708320-45708334, 45708338, 45709570-45709612, 45709621-45709667, 45709916, 45709920-45709934, 45709951, 45710978-45711034, 45711045, 45711070-45711076, 45712879-45712904, 45712928-45712929, 45712936, 45712945, 45712976-45712986, 45712989, 45713027-45713058, 45713676-45713682, 45713702-45713742, 45713748-45713793, 45714284-45714386, 45716279-45716328, 45717539-45717586, 45717599 |
| 323 | ITGB2 | 21 | 0.98571428571429 | 33 | 2310 | 46308614-46308621, 46308668-46308692 |
| 324 | COL18A1 | 21 | 0.8034188034188 | 1035 | 5265 | 46875840-46875843, 46875952-46875961, 46876527-46876541, 46876585, 46876641-46876665, 46876689-46876714, 46888189, 46888251-46888256, 46896322-46896326, 46900643, 46906776-46906822, 46906852, 46906883, 46909400-46909435, 46910189-46910217, 46910244-46910260, 46910766-46910782, 46911139-46911228, 46912449-46912468, 46912476-46912478, 46912601-46912607, 46913077-46913099, 46913110-46913111, 46913122-46913128, 46913419, 46913423, 46913428-46913445, 46913448, 46913452, 46913456, 46913459-46913489, 46914459-46914485, 46914779-46914804, 46915272, 46915283-46915312, 46915317, 46916414-46916426, 46916437-46916441, 46916459-46916462, 46916473-46916482, 46917521-46917523, 46917548-46917575, 46923925-46923968, 46924358-46924361, 46924387-46924403, 46924406-46924422, 46924426-46924434, 46924454, 46925058-46925075, 46925087, 46925096-46925192, 46925272-46925275, 46925283, 46925294, 46925302-46925331, 46925334, 46925340-46925341, 46925786-46925846, 46925870-46925873, 46925879, 46927475-46927482, 46929304, 46929363-46929365, 46929370, 46929374-46929377, 46929996-46930000, 46930014-46930058, 46930077, 46930084-46930089, 46930092, 46930099, 46930106-46930107, 46931031-46931040, 46931043, 46931085, 46931088-46931093, 46931096, 46931140, 46932191, 46932195-46932221 |
| 325 | COL6A1 | 21 | 0.85228377065112 | 456 | 3087 | 47401765-47401861, 47402548-47402562, 47402584-47402616, 47402625-47402639, 47402674-47402675, 47404183-47404197, 47404223-47404231, 47404237-47404247, 47404292-47404299, 47404310-47404343, 47404349-47404362, 47404368-47404383, 47406440-47406449, 47406476-47406478, 47406495-47406499, 47406546, 47406550-47406551, 47406575-47406576, 47406858-47406899, 47406912-47406918, 47406931-47406943, 47406946, 47406979-47406986, 47407416-47407421, 47407524-47407568, 47409021-47409034, 47409556-47409563, 47410296-47410299, 47410303-47410304, 47412099, 47412102-47412108, 47412125, 47417341-47417342, 47417614-47417615, 47423517 |
| 326 | COL6A2 | 21 | 0.62745098039216 | 1140 | 3060 | 47531446-47531469, 47531484-47531495, 47531893-47531902, 47531939-47531941, 47531947-47531949, 47531983-47531999, 47532070-47532081, 47532085, 47532088, 47532171-47532200, 47532379, 47532384, 47535822-47535826, 47535923-47535931, 47535960-47535967, 47536309-47536311, 47536566-47536591, 47536702-47536707, 47536710-47536720, 47537314-47537316, 47537338-47537351, 47537812-47537828, 47537832, 47538529-47538535, 47538571-47538590, 47538949, 47539013, 47539023-47539033, 47539702-47539705, 47539712-47539764, 47540429-47540456, 47540479-47540485, 47540975-47540993, 47541034-47541035, 47541484-47541495, 47541500-47541515, 47542436-47542445, 47542789-47542806, 47542821-47542824, 47542828-47542851, 47544576, 47544584-47544585, 47544590-47544595, 47544599, 47545180-47545193, 47545433, 47545478-47545479, 47545510-47545512, 47545527, 47545699-47545718, 47545721-47545780, 47545840-47545849, 47545853-47545865, 47545889, 47545896, 47545934-47545944, 47545960-47545996, 47546028-47546054, 47546085-47546086, 47546125-47546151, 47551868-47551905, 47551917-47551954, 47551994-47552000, 47552020-47552144, 47552150-47552219, 47552233-47552261, 47552274-47552275, 47552279-47552284, 47552288-47552366, 47552368, 47552387-47552397, 47552405-47552408, 47552423-47552429, 47552439-47552466 |
| 327 | COL6A2 | 21 | 0.29824561403509 | 240 | 342 | 47552183-47552219, 47552233-47552261, 47552274-47552275, 47552279-47552284, 47552288-47552366, 47552368, 47552387-47552397, 47552405-47552408, 47552423-47552429, 47552439-47552497, 47552520-47552524 |
| 328 | FTCD | 21 | 0.3450184501845 | 1065 | 1626 | 47556901-47556923, 47556929, 47556931-47556932, 47556937, 47557153-47557248, 47558422-47558450, 47558468, 47558473, 47558482-47558560, 47558820, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570072, 47570105-47570115, 47570130-47570164, 47570302-47570338, 47570360-47570370, 47570406-47570424, 47571488-47571490, 47571493, 47571557-47571649, 47571814-47571815, 47571820, 47571825-47571832, 47571835-47571845, 47571865-47571894, 47572849-47572859, 47572893-47572921, 47572939, 47572947-47572949, 47574063-47574117, 47574133-47574143, 47574184-47574201, 47574213, 47574219-47574225, 47575388-47575396, 47575399-47575401, 47575406-47575432 |
| 329 | PRODH | 22 | 0.91957848031059 | 145 | 1803 | 18900750, 18900841, 18904411-18904417, 18905874-18905880, 18908920-18908927, 18923529, 18923545-18923559, 18923582-18923622, 18923649-18923697, 18923743, 18923759-18923763, 18923772-18923777, 18923784-18923785, 18923791 |
| 330 | GP1BB | 22 | 0.15458937198068 | 525 | 621 | 19711094-19711095, 19711377-19711479, 19711491-19711498, 19711527-19711776, 19711783-19711930, 19711943-19711956 |
| 331 | TBX1 | 22 | 0.74596774193548 | 378 | 1488 | 19747186, 19748428-19748599, 19748608-19748630, 19748636-19748643, 19748655, 19748670-19748677, 19748681, 19748688, 19753455, 19753498-19753504, 19753912-19753913, 19753917-19753921, 19753924-19753928, 19753943-19754009, 19754012-19754046, 19754151, 19754154-19754155, 19754192-19754193, 19754291-19754325, 19754335 |
| 332 | SMARCB1 | 22 | 0.99827288428325 | 2 | 1158 | 24135747-24135748 |
| 333 | CHEK2 | 22 | 0.93696763202726 | 111 | 1761 | 29083889-29083916, 29083948-29083965, 29085165-29085171, 29090051-29090057, 29091154-29091203, 29130458 |
| 334 | NF2 | 22 | 0.99552572706935 | 8 | 1788 | 30000014-30000020, 30000035 |
| 335 | TRIOBP | 22 | 0.96041138348831 | 281 | 7098 | 38119742-38119774, 38119798-38119835, 38119883-38119905, 38119976-38119982, 38120038-38120068, 38120123-38120129, 38120193-38120199, 38120394-38120432, 38120549-38120576, 38120668, 38121933, 38122447, 38122456, 38122462-38122464, 38122493-38122495, 38122504, 38129411-38129419, 38130477, 38130806, 38130936-38130959, 38131021, 38131033-38131037, 38131229, 38131240, 38131243, 38131246, 38131259, 38147779-38147782, 38147786, 38151121, 38153920, 38153937, 38161796, 38165164, 38165184 |
| 336 | PLA2G6 | 22 | 0.32924335378323 | 328 | 489 | 38508274-38508312, 38508520-38508522, 38508535-38508584, 38509531-38509634, 38509657, 38509712-38509716, 38509744-38509869 |
| 337 | PLA2G6 | 22 | 0.77901693515076 | 535 | 2421 | 38508168-38508179, 38508184-38508200, 38508206-38508208, 38508223-38508237, 38508252-38508312, 38508520-38508522, 38508535-38508584, 38509531-38509634, 38509657, 38511534-38511543, 38511568-38511645, 38511658-38511688, 38512082-38512119, 38512150, 38512155-38512181, 38512184, 38512193-38512218, 38516888-38516895, 38516898-38516905, 38519102-38519114, 38519140-38519161, 38519223, 38519228-38519230, 38519234, 38519239 |
| 338 | TNFRSF13C | 22 | 0.41441441441441 | 325 | 555 | 42321391-42321394, 42321418-42321428, 42322105-42322117, 42322126-42322128, 42322146-42322335, 42322642-42322681, 42322702-42322740, 42322748-42322772 |
| 339 | CYB5R3 | 22 | 0.98565121412804 | 13 | 906 | 43026895, 43045304-43045314, 43045321 |
| 340 | TRMU | 22 | 0.9826224328594 | 22 | 1266 | 46731723-46731734, 46746311, 46746342-46746349, 46751384 |
| 341 | ALG12 | 22 | 0.9175187457396 | 121 | 1467 | 50298002, 50298007-50298008, 50301543, 50301554-50301570, 50301575, 50303625, 50303706-50303707, 50303717, 50303721-50303736, 50304143-50304171, 50307048, 50307051-50307052, 50307131-50307165, 50307314-50307316, 50307403-50307411 |
| 342 | MLC1 | 22 | 0.99823633156966 | 2 | 1134 | 50502493-50502494 |
| 343 | SCO2 | 22 | 0.98002496878901 | 16 | 801 | 50962360, 50962525-50962530, 50962534, 50962669-50962675, 50962830 |
| 344 | TYMP | 22 | 0.47412008281574 | 762 | 1449 | 50964199-50964241, 50964248-50964347, 50964430-50964570, 50964675-50964701, 50964708-50964764, 50964796-50964805, 50964814-50964826, 50964832-50964901, 50965005-50965044, 50965053-50965099, 50965125-50965167, 50965604-50965605, 50965612, 50965621, 50965641, 50965679, 50965686, 50966068, 50967569-50967570, 50967630-50967632, 50967666, 50967677-50967681, 50967704-50967715, 50967732-50967757, 50967943-50967971, 50967988-50968029, 50968063-50968068, 50968075, 50968078, 50968104-50968138 |
| 345 | ARSA | 22 | 0.99868766404199 | 2 | 1524 | 51063785, 51064077 |
| 346 | SHANK3 | 22 | 0.73893974065599 | 1369 | 5244 | 51113070-51113132, 51113476-51113679, 51115050-51115057, 51115090-51115114, 51115118-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133323-51133324, 51133331-51133333, 51133355-51133356, 51133360-51133383, 51135671-51135719, 51135951-51136143, 51137152-51137156, 51143275, 51144568-51144572, 51158749, 51158752-51158754, 51158790, 51158815-51158823, 51158826-51158833, 51158864, 51158881, 51158922-51158923, 51158965, 51159155, 51159202, 51159205, 51159308-51159309, 51159418, 51169247, 51169250, 51169282, 51169390, 51169506-51169509, 51169519-51169527, 51169566-51169577, 51169584, 51169604-51169610, 51169659, 51169691-51169695, 51169700-51169712, 51169716 |
| 347 | FANCD2 | 3 | 0.99954710144928 | 2 | 4416 | 10085536, 10132069 |
| 348 | SCN5A | 3 | 0.99983019188317 | 1 | 5889 | 38616807 |
| 349 | TMIE | 3 | 0.91503267973856 | 39 | 459 | 46742932, 46742957-46742982, 46743015-46743026 |
| 350 | TMIE | 3 | 0.95753715498938 | 20 | 471 | 46742978-46742982, 46743015-46743026, 46751074-46751076 |
| 351 | TREX1 | 3 | 0.99279279279279 | 8 | 1110 | 48508031-48508033, 48508055, 48508235, 48508879-48508881 |
| 352 | COL7A1 | 3 | 0.97317487266553 | 237 | 8835 | 48602352, 48607759, 48608075, 48609837, 48612791-48612794, 48612901, 48613101, 48613104-48613105, 48613720-48613729, 48616667, 48616706-48616709, 48617022, 48619010-48619033, 48619037-48619040, 48619173-48619176, 48621382-48621384, 48621782-48621784, 48623596-48623600, 48623654-48623660, 48624496-48624503, 48624688-48624689, 48624866-48624869, 48624913-48624950, 48625227-48625240, 48625260, 48625266, 48625276, 48625352, 48626399, 48626760-48626762, 48626765, 48626792, 48626822-48626879, 48627032-48627033, 48627041, 48627102-48627113, 48627142-48627151 |
| 353 | LAMB2 | 3 | 0.99907355938484 | 5 | 5397 | 49162754-49162758 |
| 354 | AMT | 3 | 0.99917491749175 | 1 | 1212 | 49459683 |
| 355 | GNAT1 | 3 | 0.99905033238367 | 1 | 1053 | 50231565 |
| 356 | TNNC1 | 3 | 0.98765432098765 | 6 | 486 | 52486219-52486221, 52486224-52486226 |
| 357 | TKT | 3 | 0.99839743589744 | 3 | 1872 | 53289926-53289928 |
| 358 | ATXN7 | 3 | 0.93763213530655 | 177 | 2838 | 63898284, 63898295, 63898308-63898338, 63898361-63898366, 63898410-63898427, 63898437-63898525, 63898533-63898554, 63898570-63898578 |
| 359 | PROS1 | 3 | 0.98670605612999 | 27 | 2031 | 93596020, 93617388-93617413 |
| 360 | ARL13B | 3 | 0.97824397824398 | 28 | 1287 | 93761859-93761866, 93761872-93761881, 93761972, 93762013-93762017, 93762081, 93762084, 93768366, 93769735 |
| 361 | IQCB1 | 3 | 0.99721758486366 | 5 | 1797 | 121526215-121526219 |
| 362 | RHO | 3 | 0.99904489016237 | 1 | 1047 | 129251431 |
| 363 | NPHP3 | 3 | 0.99549211119459 | 18 | 3993 | 132438549-132438552, 132438623-132438636 |
| 364 | FOXL2 | 3 | 0.98850574712644 | 13 | 1131 | 138664876-138664887, 138664899 |
| 365 | ALG3 | 3 | 0.99848139711465 | 2 | 1317 | 183966653-183966654 |
| 366 | CLCN2 | 3 | 0.99925843529848 | 2 | 2697 | 184072336, 184072347 |
| 367 | CPN2 | 3 | 0.9969474969475 | 5 | 1638 | 194061878-194061881, 194062374 |
| 368 | PDE6B | 4 | 0.97738791423002 | 58 | 2565 | 647642-647644, 647680, 647692, 647702, 647762, 648626, 651225-651265, 651275-651283 |
| 369 | IDUA | 4 | 0.2013251783894 | 1567 | 1962 | 980873-981030, 981597-981737, 994400-994429, 994483-994485, 994672-994677, 994683-994690, 994698-994763, 995268-995284, 995311-995339, 995489-995513, 995543-995551, 995573-995619, 995626-995665, 995784-995791, 995806-995839, 995865-995949, 996057-996065, 996082-996122, 996130-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997413, 997800-997807, 997812-997813, 997829-997859, 997884-997891, 998048-998056, 998061, 998068, 998071, 998075, 998081-998100, 998113-998114, 998137-998181 |
| 370 | FGFR3 | 4 | 0.84054388133498 | 387 | 2427 | 1795662-1795670, 1795690-1795757, 1795768-1795770, 1801005-1801008, 1801028, 1801043-1801047, 1801055-1801057, 1801089-1801090, 1801125-1801136, 1801147-1801148, 1801191-1801194, 1801202-1801227, 1801474-1801485, 1801495-1801503, 1803111, 1803198-1803244, 1803381-1803386, 1803420-1803456, 1803587-1803596, 1803718, 1803732-1803752, 1806569-1806579, 1806652-1806654, 1807136-1807147, 1807558, 1807832-1807835, 1808405-1808407, 1808561-1808564, 1808633, 1808637-1808648, 1808843-1808846, 1808884-1808918, 1808932, 1808977-1808989 |
| 371 | SH3BP2 | 4 | 0.98384491114701 | 30 | 1857 | 2820022-2820048, 2820074, 2820077, 2831383 |
| 372 | HTT | 4 | 0.98175840492099 | 172 | 9429 | 3076600-3076603, 3076604-3076699, 3076707-3076743, 3076753-3076761, 3076777, 3076788-3076792, 3213809, 3234921, 3234964-3234975, 3240306, 3240597, 3241732-3241734, 3241786 |
| 373 | DOK7 | 4 | 0.88712871287129 | 171 | 1515 | 3465103, 3465129-3465156, 3465233-3465278, 3475164-3475168, 3478079-3478087, 3478106-3478107, 3478187-3478218, 3494548, 3494573, 3494612, 3494682-3494688, 3494846-3494850, 3494961, 3495028-3495052, 3495078-3495083, 3495150 |
| 374 | DOK7 | 4 | 0.92724196277496 | 43 | 591 | 3494548, 3494573, 3494612, 3494682-3494688, 3494846-3494850, 3494961, 3495028-3495052, 3495078-3495079 |
| 375 | EVC | 4 | 0.99563611950319 | 13 | 2979 | 5713108, 5713135, 5713203-5713213 |
| 376 | WFS1 | 4 | 0.99513655069211 | 13 | 2673 | 6279253-6279263, 6279363, 6279389 |
| 377 | CNGA1 | 4 | 0.99868421052632 | 3 | 2280 | 47954688-47954690 |
| 378 | PKD2 | 4 | 0.97867217062264 | 62 | 2907 | 88928898-88928903, 88928911-88928959, 88928967-88928972, 88929098 |
| 379 | CISD2 | 4 | 0.95588235294118 | 18 | 408 | 103808512-103808522, 103808569-103808575 |
| 380 | MFSD8 | 4 | 0.98265895953757 | 27 | 1557 | 128859942-128859964, 128859976, 128859979, 128859993, 128878661 |
| 381 | FGB | 4 | 0.99186991869919 | 12 | 1476 | 155484203-155484214 |
| 382 | CTSO | 4 | 0.99896480331263 | 1 | 966 | 156863509 |
| 383 | ETFDH | 4 | 0.99946062567422 | 1 | 1854 | 159601713 |
| 384 | GK | 4 | 0.99939831528279 | 1 | 1662 | 166199345 |
| 385 | SDHA | 5 | 0.9062656641604 | 187 | 1995 | 223682-223683, 224475, 228354, 233689-233697, 236646-236681, 240518-240527, 251108-251149, 251190-251218, 251500-251506, 254571-254577, 254606-254621, 256449-256475 |
| 386 | SLC6A19 | 5 | 0.66719160104987 | 634 | 1905 | 1201766-1201967, 1208883-1208886, 1208951-1208958, 1208964-1209001, 1210559-1210600, 1210635-1210653, 1212480, 1212566-1212569, 1212580-1212583, 1212590, 1213578-1213665, 1213677-1213688, 1214076, 1214084-1214100, 1214103-1214105, 1214109-1214110, 1214112, 1214127-1214139, 1214158-1214180, 1216759-1216778, 1216789, 1216798-1216801, 1217033-1217034, 1219018-1219051, 1219111-1219112, 1219132-1219134, 1219154, 1219620-1219639, 1219651, 1219695-1219746, 1221266-1221276 |
| 387 | TERT | 5 | 0.69814651368049 | 1026 | 3399 | 1254516-1254518, 1254521, 1258715-1258720, 1258738, 1258746, 1264533-1264569, 1266579-1266616, 1266649, 1268667-1268727, 1268737, 1268742-1268748, 1271234-1271258, 1271271-1271278, 1271282-1271301, 1272306-1272354, 1278796, 1278812-1278866, 1278894, 1278898, 1278902, 1279421-1279437, 1279462-1279494, 1279506-1279552, 1279561-1279562, 1279582-1279584, 1280286-1280306, 1280314-1280379, 1293619, 1293626, 1293684, 1293710-1293712, 1293715-1293725, 1293945-1293952, 1294173-1294182, 1294242-1294338, 1294398-1294418, 1294430, 1294479-1294502, 1294556-1294575, 1294600-1294702, 1294718-1294781, 1294900-1294941, 1294967-1294985, 1294996, 1295013-1295104 |
| 388 | SLC6A3 | 5 | 0.97047772410091 | 55 | 1863 | 1409162-1409190, 1409226-1409237, 1414806-1414815, 1420806-1420809 |
| 389 | NDUFS6 | 5 | 0.93333333333333 | 25 | 375 | 1801617-1801640, 1802472 |
| 390 | DNAH5 | 5 | 0.99935135135135 | 9 | 13875 | 13916490-13916498 |
| 391 | NIPBL | 5 | 0.98621509209745 | 116 | 8415 | 36985476-36985535, 37006603-37006606, 37006630-37006632, 37022182, 37036481-37036485, 37036489-37036490, 37044579, 37048649-37048652, 37048660-37048664, 37048750-37048772, 37052588, 37059103-37059108, 37064053 |
| 392 | LIFR | 5 | 0.9996964177292 | 1 | 3294 | 38490304 |
| 393 | GHR | 5 | 0.96557120500782 | 66 | 1917 | 42629140-42629205 |
| 394 | ERCC8 | 5 | 0.99664147774979 | 4 | 1191 | 60200650-60200653 |
| 395 | SMN2 | 5 | 0.98531073446328 | 13 | 885 | 69359242-69359247, 69362946-69362952 |
| 396 | SMN2 | 5 | 0.98531073446328 | 13 | 885 | 70234666-70234671, 70238370-70238376 |
| 397 | ARSB | 5 | 0.99937578027466 | 1 | 1602 | 78281007 |
| 398 | RASA1 | 5 | 0.99045801526718 | 30 | 3144 | 86564545-86564551, 86669980-86669981, 86670033, 86670036-86670043, 86670080-86670081, 86670109-86670118 |
| 399 | GPR98 | 5 | 0.99989429734158 | 2 | 18921 | 90144582, 90144587 |
| 400 | LMNB1 | 5 | 0.99886428165815 | 2 | 1761 | 126113478, 126113481 |
| 401 | SLC22A5 | 5 | 0.99820788530466 | 3 | 1674 | 131705666, 131705878-131705879 |
| 402 | MYOT | 5 | 0.98329993319973 | 25 | 1497 | 137221875, 137221879-137221902 |
| 403 | DIAPH1 | 5 | 0.98874050798638 | 43 | 3819 | 140953317, 140953560-140953601 |
| 404 | TCOF1 | 5 | 0.9965564738292 | 15 | 4356 | 149748370-149748383, 149776043 |
| 405 | F12 | 5 | 0.98755411255411 | 23 | 1848 | 176830983-176830997, 176831562-176831569 |
| 406 | NHP2 | 5 | 0.96103896103896 | 18 | 462 | 177580659-177580660, 177580733-177580748 |
| 407 | GRM6 | 5 | 0.97798025816249 | 58 | 2634 | 178415962, 178421579-178421611, 178421666-178421678, 178421898, 178421904, 178421908, 178421933-178421940 |
| 408 | SQSTM1 | 5 | 0.97656840513983 | 31 | 1323 | 179247989-179248000, 179248005-179248010, 179248071-179248079, 179248112-179248113, 179248140-179248141 |
| 409 | FLT4 | 5 | 0.28225806451613 | 2937 | 4092 | 180039595, 180039603, 180043367-180043368, 180043371, 180043378-180043380, 180043425, 180043446-180043448, 180043464-180043489, 180043944-180043948, 180043956-180043964, 180043967, 180043993, 180045770-180045920, 180046021-180046062, 180046069-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047674, 180047680-180047695, 180047707-180047708, 180047711-180047714, 180047876-180048007, 180048106-180048252, 180048542-180048643, 180048654-180048728, 180048735-180048746, 180048751-180048754, 180048769-180048815, 180048821-180048822, 180048825-180048826, 180048842-180048843, 180048848-180048904, 180049731-180049759, 180049775, 180049786-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053216, 180053225-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545 |
| 410 | FOXC1 | 6 | 0.84957882069795 | 250 | 1662 | 1610725, 1610737-1610739, 1610836-1610837, 1611078-1611086, 1611170-1611179, 1611266-1611275, 1611325-1611326, 1611331-1611334, 1611337-1611345, 1611368, 1611413-1611432, 1611462-1611493, 1611497, 1611512-1611544, 1611570-1611582, 1611592-1611604, 1611609-1611612, 1611650-1611686, 1611698-1611699, 1611742, 1611797-1611825, 1611951-1611953, 1612018-1612020, 1612027, 1612080-1612086 |
| 411 | TUBB2B | 6 | 0.98355754857997 | 22 | 1338 | 3224998-3225018, 3225446 |
| 412 | ATXN1 | 6 | 0.99673202614379 | 8 | 2448 | 16327865-16327867, 16327909, 16327916-16327918, 16327921 |
| 413 | HLA-H | 6 | 0.96266666666667 | 28 | 750 | 29855996-29856001, 29856593-29856614 |
| 414 | TNXB | 6 | 0.91187143597719 | 170 | 1929 | 31976896-31976929, 31977388-31977395, 31977509-31977555, 31977998, 31978491-31978535, 31978782-31978815, 31979479 |
| 415 | CYP21A2 | 6 | 0.96706989247312 | 49 | 1488 | 32006211-32006234, 32006317, 32006337, 32006886, 32008448-32008454, 32008893-32008907 |
| 416 | TNXB | 6 | 0.99465786786079 | 68 | 12729 | 32009648-32009664, 32010123-32010130, 32010260, 32010272, 32010732, 32011231-32011269, 32012333 |
| 417 | HLA-DQA1 | 6 | 0.95963541666667 | 31 | 768 | 32609181, 32609236, 32609239-32609241, 32609952, 32609969, 32609974, 32610387-32610406, 32610534-32610535, 32610538 |
| 418 | HLA-DQB1 | 6 | 0.8587786259542 | 111 | 786 | 32629124-32629173, 32629224-32629234, 32632575-32632612, 32632744, 32632763-32632771, 32632781-32632782 |
| 419 | SYNGAP1 | 6 | 0.98313492063492 | 68 | 4032 | 33388042-33388108, 33393625 |
| 420 | RPS10 | 6 | 0.9859437751004 | 7 | 498 | 34392465-34392471 |
| 421 | FANCE | 6 | 0.99937926753569 | 1 | 1611 | 35420406 |
| 422 | TULP1 | 6 | 0.99693063228975 | 5 | 1629 | 35480003-35480007 |
| 423 | MOCS1 | 6 | 0.78388278388278 | 413 | 1911 | 39893422-39893589, 39895068-39895285, 39895291-39895317 |
| 424 | RSPH9 | 6 | 0.97232250300842 | 23 | 831 | 43612845-43612854, 43612920-43612932 |
| 425 | RUNX2 | 6 | 0.99425287356322 | 9 | 1566 | 45390481, 45390485-45390489, 45390500-45390502 |
| 426 | MUT | 6 | 0.97381269418553 | 59 | 2253 | 49403282, 49409561-49409603, 49409620-49409634 |
| 427 | PKHD1 | 6 | 0.99901840490798 | 12 | 12225 | 51929753-51929760, 51929791, 51929796-51929797, 51929801 |
| 428 | COL9A1 | 6 | 0.99168474331164 | 23 | 2766 | 70990707-70990729 |
| 429 | RIMS1 | 6 | 0.99980311084859 | 1 | 5079 | 72892363 |
| 430 | SLC17A5 | 6 | 0.99932795698925 | 1 | 1488 | 74345141 |
| 431 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80202338 |
| 432 | OSTM1 | 6 | 0.98606965174129 | 14 | 1005 | 108395689, 108395696, 108395713-108395715, 108395747-108395754, 108395829 |
| 433 | EPM2A | 6 | 0.99397590361446 | 6 | 996 | 145956450-145956455 |
| 434 | TBP | 6 | 0.98039215686275 | 20 | 1020 | 170871014-170871019, 170871037, 170871046, 170871067-170871076, 170871079, 170871082 |
| 435 | LFNG | 7 | 0.54912280701754 | 514 | 1140 | 2559496-2559707, 2559721-2559927, 2564347-2564358, 2564854-2564881, 2565048-2565056, 2565103, 2565126-2565130, 2565321, 2565329, 2565337-2565339, 2565342-2565343, 2565346, 2565352-2565354, 2565358-2565361, 2565372, 2565385-2565393, 2565396, 2565919, 2566002-2566013, 2566790 |
| 436 | PMS2 | 7 | 0.97566628041715 | 63 | 2589 | 6013150-6013156, 6026622, 6026985-6026991, 6043610-6043616, 6045523-6045563 |
| 437 | TWIST1 | 7 | 0.82922824302135 | 104 | 609 | 19156760-19156761, 19156796-19156873, 19156896-19156919 |
| 438 | DNAH11 | 7 | 0.99985263778367 | 2 | 13572 | 21630537, 21894039 |
| 439 | HOXA1 | 7 | 0.99702380952381 | 3 | 1008 | 27135317-27135319 |
| 440 | HOXA13 | 7 | 0.83890317052271 | 188 | 1167 | 27239171-27239172, 27239204-27239206, 27239219-27239226, 27239305-27239351, 27239375-27239414, 27239445-27239472, 27239477-27239484, 27239499-27239529, 27239560-27239579, 27239610 |
| 441 | PGAM2 | 7 | 0.98950131233596 | 8 | 762 | 44104975, 44105090-44105096 |
| 442 | CCM2 | 7 | 0.93258426966292 | 90 | 1335 | 45039933-45039944, 45039952-45039953, 45039957-45039962, 45113889-45113928, 45113975-45113977, 45113982-45113983, 45115417-45115430, 45115545-45115548, 45115553, 45115626, 45115630-45115634 |
| 443 | EGFR | 7 | 0.99779796311588 | 8 | 3633 | 55087038-55087045 |
| 444 | ASL | 7 | 0.77132616487455 | 319 | 1395 | 65546831-65546841, 65546940-65546943, 65547401-65547438, 65548067-65548071, 65548074-65548076, 65551614-65551619, 65551643-65551649, 65551731-65551761, 65551798, 65551801-65551803, 65552321-65552326, 65552716-65552717, 65553807-65553814, 65553821-65553841, 65553854, 65553864-65553865, 65554081-65554088, 65554093-65554099, 65554289-65554301, 65554599-65554602, 65554605-65554619, 65554632, 65554635, 65556993-65557024, 65557544-65557582, 65557755-65557770, 65557835-65557868 |
| 445 | KCTD7 | 7 | 0.90459770114943 | 83 | 870 | 66094052-66094079, 66094093-66094096, 66094145-66094195 |
| 446 | NCF1 | 7 | 0.92242424242424 | 64 | 825 | 72637917-72637919, 72639957-72639990, 72640031-72640039, 72641444-72641450, 72644230-72644236, 72645927, 72648651, 72648672, 72648696 |
| 447 | ELN | 7 | 0.96091954022989 | 85 | 2175 | 73442518-73442541, 73442559-73442594, 73466091, 73466129-73466135, 73466266-73466282 |
| 448 | NCF1 | 7 | 0.94373401534527 | 66 | 1173 | 74193665-74193672, 74195126-74195132, 74197312, 74197320, 74202930-74202936, 74202989-74203029, 74203045 |
| 449 | POR | 7 | 0.86000978952521 | 286 | 2043 | 75609772-75609775, 75610379-75610389, 75612884, 75613172-75613174, 75614120-75614126, 75614201-75614242, 75614255, 75614268-75614273, 75614385-75614394, 75614419-75614434, 75614449-75614450, 75614516-75614525, 75614913-75614920, 75614950-75614955, 75614960-75614982, 75615002-75615028, 75615099-75615121, 75615157-75615167, 75615241-75615245, 75615256, 75615268-75615288, 75615369, 75615478-75615484, 75615534-75615559, 75615713-75615720, 75615759-75615764 |
| 450 | AKAP9 | 7 | 0.99914704878881 | 10 | 11724 | 91609620-91609622, 91609627-91609629, 91625056, 91630231, 91630234, 91630304 |
| 451 | KRIT1 | 7 | 0.99954771596563 | 1 | 2211 | 91852167 |
| 452 | COL1A2 | 7 | 0.99951231406974 | 2 | 4101 | 94058694-94058695 |
| 453 | SLC26A4 | 7 | 0.99786598378148 | 5 | 2343 | 107314709-107314711, 107314715, 107314718 |
| 454 | CFTR | 7 | 0.96241278415485 | 167 | 4443 | 117188713-117188753, 117188760-117188800, 117188838-117188853, 117188874-117188877, 117232181, 117234999-117235059, 117235079, 117235084, 117235097 |
| 455 | IMPDH1 | 7 | 0.98333333333333 | 30 | 1800 | 128049827-128049854, 128049865-128049866 |
| 456 | FLNC | 7 | 0.99694301785278 | 25 | 8178 | 128470709, 128470715, 128470719, 128470724, 128470842-128470852, 128470951-128470952, 128471019-128471020, 128477273, 128477277-128477281 |
| 457 | ATP6V0A4 | 7 | 0.99762187871581 | 6 | 2523 | 138394376-138394381 |
| 458 | BRAF | 7 | 0.99956540634507 | 1 | 2301 | 140624412 |
| 459 | PRSS1 | 7 | 0.94489247311828 | 41 | 744 | 142458506-142458512, 142459679, 142460310-142460342 |
| 460 | CLCN1 | 7 | 0.99932591843613 | 2 | 2967 | 143043296-143043297 |
| 461 | KCNH2 | 7 | 0.98275862068966 | 60 | 3480 | 150674926-150674970, 150674987-150675001 |
| 462 | SHH | 7 | 0.65298776097912 | 482 | 1389 | 155595594-155595665, 155595693-155595801, 155595805-155595807, 155595810, 155595827-155595839, 155595845, 155595850, 155595866-155595881, 155595895-155595897, 155595901, 155595905-155595964, 155595989-155596001, 155596017-155596043, 155596051-155596054, 155596065-155596069, 155596093, 155596097-155596099, 155596122-155596149, 155596181-155596216, 155596228-155596236, 155596239-155596250, 155596262, 155596272, 155596313-155596350, 155599005, 155599035-155599053, 155599110, 155599115-155599117 |
| 463 | MNX1 | 7 | 0.70729684908789 | 353 | 1206 | 156798386-156798413, 156802509-156802547, 156802568-156802572, 156802583, 156802586, 156802598-156802623, 156802646-156802758, 156802769-156802816, 156802827-156802842, 156802850, 156802863-156802890, 156802932-156802952, 156802992, 156802996-156803020 |
| 464 | MCPH1 | 8 | 0.99960127591707 | 1 | 2508 | 6299600 |
| 465 | GATA4 | 8 | 0.96162528216704 | 51 | 1329 | 11565912, 11565915, 11566117-11566125, 11566164-11566178, 11566224-11566237, 11566347-11566349, 11566356-11566363 |
| 466 | HGSNAT | 8 | 0.98165618448637 | 35 | 1908 | 42995650-42995671, 42995679, 42995689, 42995725-42995735 |
| 467 | VPS13B | 8 | 0.99983324995831 | 2 | 11994 | 100514071-100514072 |
| 468 | KCNQ3 | 8 | 0.99961817487591 | 1 | 2619 | 133492744 |
| 469 | SLURP1 | 8 | 0.4775641025641 | 163 | 312 | 143822561-143822655, 143822680-143822684, 143823221-143823242, 143823249, 143823280, 143823289, 143823295-143823320, 143823771-143823780, 143823802-143823803 |
| 470 | CYP11B2 | 8 | 0.99404761904762 | 9 | 1512 | 143993951-143993953, 143999136-143999141 |
| 471 | PLEC | 8 | 0.70522945570971 | 4143 | 14055 | 144990372, 144990376-144990377, 144990574, 144990612, 144990775-144990778, 144990788, 144991286, 144992388-144992389, 144992447, 144992451, 144992461, 144992643-144992685, 144992828, 144992900, 144993055-144993057, 144993330-144993331, 144993662, 144993667, 144993691, 144993826-144993830, 144993885-144993888, 144994370, 144994376, 144994398-144994407, 144994472, 144994691, 144994700, 144994983, 144994999, 144995027-144995037, 144995413, 144995479-144995499, 144995550, 144995739-144995788, 144995817-144995854, 144995893-144995906, 144996196-144996213, 144996220-144996263, 144996269-144996293, 144996321-144996334, 144996466, 144996477, 144996532-144996537, 144996543-144996550, 144996706-144996743, 144996787, 144996798, 144996886, 144996889, 144996962, 144996978-144996979, 144996986, 144996999, 144997003-144997006, 144997064, 144997088-144997135, 144997198, 144997309-144997335, 144997390-144997414, 144997431-144997460, 144997477-144997487, 144997606, 144997704, 144997738-144997744, 144997793, 144997805-144997938, 144997987-144998112, 144998139-144998195, 144998213-144998285, 144998292-144998421, 144998434-144998583, 144998591-144998594, 144998600-144998603, 144998614-144998747, 144998753-144998754, 144998757, 144998760-144998761, 144998787-144998795, 144998807, 144998826-144998833, 144998847-144998950, 144998960-144999327, 144999343-144999344, 144999348-144999360, 144999370-144999457, 144999463-144999550, 144999570-144999574, 144999609, 144999637-144999658, 144999687, 144999690-144999693, 144999696-144999702, 144999712-144999734, 144999741-144999744, 144999749, 144999758-144999787, 144999795-144999899, 144999907, 144999910-144999932, 144999935-144999936, 144999941, 144999981-145000002, 145000031-145000043, 145000952-145000985, 145001014-145001017, 145001035-145001036, 145001145-145001150, 145001164-145001171, 145001179-145001181, 145001230-145001249, 145001420-145001422, 145001468-145001503, 145001588-145001619, 145001655, 145001663, 145001704-145001767, 145001776-145001785, 145001838-145001842, 145001848, 145001869-145001920, 145002025-145002052, 145002131-145002132, 145003273, 145003280-145003281, 145003325, 145003328-145003330, 145003375-145003421, 145003582-145003586, 145003608, 145003620-145003635, 145003651-145003682, 145003710-145003712, 145003814-145003861, 145003889, 145003895-145003900, 145003939-145003945, 145003990-145003997, 145004148-145004193, 145004216-145004230, 145004328-145004342, 145004372-145004441, 145004567-145004571, 145004576-145004578, 145004650, 145004660-145004664, 145004673, 145005702-145005731, 145005746-145005748, 145005801, 145005810-145005811, 145006115, 145006125-145006200, 145006298-145006402, 145006568-145006572, 145006588, 145006598-145006647, 145006651, 145006669-145006672, 145006684, 145006709, 145006803-145006831, 145006839-145006880, 145006961-145007038, 145007074-145007082, 145007085-145007087, 145007125-145007126, 145007139-145007140, 145007154-145007184, 145007230-145007237, 145007252, 145007369-145007389, 145007485-145007502, 145008166-145008229, 145008237-145008259, 145008561-145008572, 145008597-145008613, 145008803-145008815, 145008822-145008831, 145008871-145008898, 145008985-145008987, 145008995, 145008999-145009000, 145009004-145009022, 145009027-145009048, 145009052-145009053, 145009074-145009097, 145009180, 145009208-145009285, 145009366-145009400, 145009428, 145009445-145009455, 145009462-145009481, 145010039-145010077, 145010116, 145010142-145010182, 145011165-145011174, 145011219-145011239, 145011360-145011362, 145011400-145011410, 145012319, 145012335, 145012340, 145012346-145012350, 145012386, 145012395, 145024374-145024390, 145024402-145024474, 145024485, 145024488, 145024512, 145024520, 145024531, 145024571-145024577, 145024722-145024743, 145024769, 145024855, 145024873 |
| 472 | GPT | 8 | 0.3158953722334 | 1020 | 1491 | 145729688-145729700, 145729722, 145729725-145729728, 145729734, 145729740, 145729743, 145729776-145729799, 145729810, 145729829, 145729832-145729833, 145729848, 145729989-145729996, 145730023-145730026, 145730036-145730039, 145730049, 145730054-145730056, 145730392, 145730401-145730427, 145730432-145730441, 145730450-145730451, 145730454-145730456, 145730466-145730475, 145730490-145730514, 145730629-145730862, 145730871-145730872, 145731232-145731310, 145731378-145731474, 145731480-145731514, 145731615-145731689, 145731695-145731701, 145731712-145731783, 145731901-145732039, 145732114-145732205, 145732215-145732226, 145732293-145732303, 145732306, 145732312-145732316, 145732326-145732332, 145732380-145732383 |
| 473 | RECQL4 | 8 | 0.41825199889716 | 2110 | 3627 | 145736814-145736867, 145736885, 145736888, 145736899, 145736907, 145736910, 145736917-145736938, 145737064-145737128, 145737165-145737169, 145737172, 145737322-145737450, 145737532-145737583, 145737593-145737707, 145737775-145737779, 145737788-145737802, 145737808-145737812, 145737816-145737817, 145737820-145737826, 145737839-145737944, 145738025-145738060, 145738070-145738154, 145738230-145738521, 145738601-145738607, 145738621-145738727, 145738738, 145738747-145738758, 145738768, 145738770-145738820, 145738833, 145738839, 145738844, 145738955-145739029, 145739035-145739096, 145739312-145739344, 145739362-145739474, 145739487, 145739589-145739590, 145739628-145739642, 145739675-145739707, 145739745-145739746, 145740338-145740357, 145740390, 145740449-145740452, 145740549-145740551, 145740571, 145740716-145740721, 145741168-145741204, 145741387, 145741406, 145741411, 145741421, 145741463, 145741510-145741536, 145741539-145741540, 145741562-145741578, 145741600, 145741615-145741622, 145741649-145741650, 145741661, 145741669-145741673, 145741676, 145741692-145741696, 145741709-145741758, 145741771-145741773, 145741813-145741853, 145741887-145741918, 145741929-145741958, 145741973-145742005, 145742015-145742016, 145742030-145742034, 145742068, 145742071, 145742109-145742123, 145742435-145742441, 145742495-145742525, 145742538-145742574, 145742799, 145742804-145742821, 145742843-145742859, 145742879, 145742884-145742892, 145742986-145743019, 145743085-145743152, 145743160-145743168 |
| 474 | VLDLR | 9 | 0.98245614035088 | 46 | 2622 | 2622198-2622243 |
| 475 | GLIS3 | 9 | 0.99964196204798 | 1 | 2793 | 4117959 |
| 476 | JAK2 | 9 | 0.99529273315681 | 16 | 3399 | 5070044-5070052, 5077475-5077481 |
| 477 | GRHPR | 9 | 0.99696048632219 | 3 | 987 | 37426629-37426631 |
| 478 | ROR2 | 9 | 0.99505649717514 | 14 | 2832 | 94712194, 94712207-94712212, 94712223-94712229 |
| 479 | PTCH1 | 9 | 0.99838858195212 | 7 | 4344 | 98270535-98270540, 98270597 |
| 480 | FOXE1 | 9 | 0.86274509803922 | 154 | 1122 | 100616266-100616284, 100616308-100616339, 100616697-100616757, 100616814-100616815, 100616821-100616826, 100616829-100616830, 100616833-100616838, 100617039, 100617123-100617147 |
| 481 | TGFBR1 | 9 | 0.9728835978836 | 41 | 1512 | 101867488-101867493, 101867499-101867504, 101867515-101867528, 101867538-101867543, 101867548-101867556 |
| 482 | NR5A1 | 9 | 0.86507936507937 | 187 | 1386 | 127245048-127245052, 127245167-127245177, 127253476, 127253486, 127255397, 127262370, 127262545-127262547, 127262597-127262600, 127262754-127262760, 127262813-127262821, 127262857, 127262861, 127262865, 127262869-127262879, 127265377-127265414, 127265432, 127265448-127265479, 127265498-127265499, 127265577-127265585, 127265619-127265666 |
| 483 | STXBP1 | 9 | 0.99724061810155 | 5 | 1812 | 130374710-130374714 |
| 484 | ENG | 9 | 0.99494183105716 | 10 | 1977 | 130616586, 130616592-130616599, 130616634 |
| 485 | DOLK | 9 | 0.99443413729128 | 9 | 1617 | 131708891-131708893, 131708896-131708898, 131709388-131709390 |
| 486 | POMT1 | 9 | 0.97107438016529 | 63 | 2178 | 134393911-134393914, 134394224-134394227, 134394254, 134394319-134394325, 134394830-134394863, 134397434-134397441, 134398323-134398326, 134398425 |
| 487 | SETX | 9 | 0.99950211600697 | 4 | 8034 | 135139875, 135139884-135139885, 135172291 |
| 488 | TSC1 | 9 | 0.99914163090129 | 3 | 3495 | 135771988-135771990 |
| 489 | CEL | 9 | 0.79480405107882 | 466 | 2271 | 135944583-135944589, 135945985-135946018, 135946596-135946990, 135947013-135947041, 135947063 |
| 490 | SURF1 | 9 | 0.84163898117386 | 143 | 903 | 136219451, 136219456, 136220700-136220739, 136221725-136221727, 136223124-136223175, 136223276-136223318, 136223320-136223321, 136223329 |
| 491 | ADAMTS13 | 9 | 0.92040149393091 | 341 | 4284 | 136293754-136293891, 136295073-136295091, 136295112, 136295131-136295160, 136298597, 136298601-136298627, 136301949-136301982, 136302016, 136302026-136302049, 136302907-136302913, 136303372-136303378, 136305638-136305645, 136308638-136308643, 136310113, 136310844-136310865, 136313731-136313732, 136320407-136320413, 136320484, 136320523, 136320723, 136324231-136324233 |
| 492 | DBH | 9 | 0.89536138079827 | 194 | 1854 | 136516756-136516785, 136516824-136516834, 136516860-136516871, 136521646-136521668, 136521706-136521738, 136522245, 136522248-136522252, 136522270-136522310, 136522336-136522351, 136523512-136523533 |
| 493 | SARDH | 9 | 0.88139281828074 | 327 | 2757 | 136529133, 136531894-136531973, 136535706-136535838, 136535847-136535874, 136536657-136536691, 136536726-136536731, 136536735, 136536747-136536771, 136555520-136555528, 136559485-136559492, 136573438 |
| 494 | COL5A1 | 9 | 0.89450788471996 | 582 | 5517 | 137534034-137534041, 137534053-137534128, 137582765, 137582872-137582881, 137582893-137582925, 137591755-137591793, 137591867-137591911, 137591925, 137591959-137591968, 137593123-137593179, 137623350, 137623474, 137642410-137642438, 137642647-137642669, 137642688, 137642697-137642724, 137642727-137642728, 137644443-137644470, 137645696-137645749, 137646145-137646166, 137648623, 137648631-137648635, 137650093-137650096, 137653771-137653778, 137653797-137653822, 137655570, 137655574-137655583, 137664679-137664680, 137676885-137676887, 137677882-137677883, 137693809, 137693813, 137693829, 137693833-137693841, 137703391-137703400, 137707801, 137710502-137710518, 137710585-137710588, 137710846-137710851, 137727022 |
| 495 | LHX3 | 9 | 0.71381306865178 | 346 | 1209 | 139089242, 139089280-139089282, 139089287-139089290, 139089322-139089355, 139089364-139089418, 139089462-139089470, 139089479, 139089533-139089549, 139089573-139089589, 139090522-139090536, 139090555, 139090598-139090614, 139090754, 139090768-139090770, 139090773-139090805, 139090832-139090835, 139090853-139090856, 139090874-139090905, 139091722, 139094792-139094885 |
| 496 | INPP5E | 9 | 0.82222222222222 | 344 | 1935 | 139325556, 139326276-139326280, 139326297-139326310, 139326315-139326317, 139326346-139326372, 139326434, 139326990-139326991, 139327003, 139327677-139327679, 139327685-139327686, 139327722-139327731, 139333085-139333087, 139333159-139333167, 139333222-139333225, 139333264-139333275, 139333302-139333334, 139333343, 139333347-139333348, 139333376-139333384, 139333441-139333446, 139333449, 139333452-139333457, 139333490-139333522, 139333555-139333569, 139333590-139333592, 139333595-139333612, 139333620-139333648, 139333687, 139333699-139333722, 139333743-139333796, 139333860-139333871 |
| 497 | NOTCH1 | 9 | 0.36880542514345 | 4840 | 7668 | 139390523-139390549, 139390576-139390582, 139390602-139390638, 139390692-139390737, 139390769-139390794, 139390822-139390964, 139391001-139391003, 139391006-139391009, 139391011-139391012, 139391023, 139391033-139391091, 139391117-139391166, 139391177-139391209, 139391254-139391302, 139391313-139391356, 139391372-139391378, 139391391-139391636, 139391656-139391744, 139391768-139391808, 139391832-139391879, 139391883, 139391903-139391913, 139391922-139391923, 139391932-139392002, 139393436-139393437, 139393573-139393593, 139393600-139393627, 139395004-139395061, 139395068-139395074, 139395084-139395124, 139395149-139395254, 139395264, 139395267, 139395298-139395299, 139396200-139396235, 139396271-139396365, 139396453-139396521, 139396734-139396749, 139396769-139396800, 139396868-139396940, 139397635-139397648, 139397756-139397771, 139399125-139399137, 139399144-139399256, 139399264-139399298, 139399302-139399304, 139399309, 139399353-139399391, 139399399-139399438, 139399461-139399467, 139399486-139399496, 139399499, 139399504-139399507, 139399514-139399517, 139399520-139399556, 139399779-139399791, 139399794-139399799, 139399816-139399937, 139399955-139400073, 139400136-139400295, 139400302-139400333, 139400979-139400983, 139401017, 139401052-139401067, 139401072, 139401079, 139401086, 139401175-139401181, 139401208-139401236, 139401284-139401319, 139401363-139401369, 139401763-139401773, 139401837, 139401841-139401844, 139401884-139401889, 139402407-139402443, 139402467-139402476, 139402489-139402491, 139402684-139402695, 139402726-139402789, 139402834-139402837, 139403339, 139403344-139403370, 139403419-139403423, 139403430-139403458, 139403474-139403482, 139403493-139403523, 139404185, 139404238-139404240, 139404339-139404370, 139404391-139404393, 139404400-139404401, 139405105, 139405128-139405153, 139405172, 139405175-139405194, 139405203-139405257, 139405604-139405605, 139405614, 139405643-139405683, 139405689, 139405692, 139407473-139407586, 139407845-139407855, 139407861, 139407865, 139407883-139407888, 139407910-139407979, 139408973-139408979, 139409001-139409064, 139409086-139409100, 139409147-139409154, 139409742-139409748, 139409770-139409771, 139409775-139409837, 139409845-139409848, 139409935-139409936, 139409950-139409951, 139409969-139410022, 139410034-139410072, 139410079-139410168, 139410439-139410479, 139410495, 139410499-139410503, 139410529-139410546, 139411729-139411837, 139412204-139412292, 139412307-139412389, 139412589-139412662, 139412680, 139412708-139412723, 139412726, 139412729-139412733, 139412739-139412744, 139413043-139413061, 139413073, 139413081, 139413104-139413134, 139413158-139413160, 139413171-139413190, 139413193, 139413202, 139413214-139413276, 139413895-139413898, 139413905, 139413909-139413911, 139413926-139413931, 139413934-139413940, 139413957, 139413965-139413966, 139413983-139414009, 139414017, 139417302-139417640, 139418169-139418431, 139438480, 139438485-139438486, 139438516, 139440179-139440238 |
| 498 | AGPAT2 | 9 | 0.6284348864994 | 311 | 837 | 139568204-139568221, 139568235, 139568262-139568303, 139568368-139568379, 139569197-139569223, 139569226, 139571414, 139571558, 139571562, 139571566, 139571576-139571588, 139571918, 139571979-139571980, 139572001-139572008, 139581628-139581809 |
| 499 | SLC34A3 | 9 | 0.61722222222222 | 689 | 1800 | 140127051, 140127054-140127055, 140127064-140127073, 140127080-140127091, 140127241, 140127368, 140127456-140127470, 140127504-140127508, 140127684, 140127729, 140127741, 140127752, 140128092-140128094, 140128097, 140128107-140128139, 140128148-140128149, 140128315-140128390, 140128561-140128567, 140128573-140128648, 140128671-140128716, 140128726-140128728, 140128890-140128891, 140128894-140128902, 140128914-140128921, 140128951-140128984, 140129132, 140129139, 140129143, 140129146, 140130407-140130409, 140130418-140130491, 140130494-140130506, 140130512-140130522, 140130574-140130586, 140130603-140130689, 140130698-140130699, 140130711, 140130720-140130745, 140130759-140130838, 140130845-140130868 |
| 500 | EHMT1 | 9 | 0.8306389530408 | 660 | 3897 | 140513484-140513497, 140605439-140605482, 140611078-140611130, 140611136-140611314, 140611321-140611467, 140611473-140611480, 140611500-140611634, 140622930-140622948, 140638496-140638526, 140671280, 140728949-140728965, 140729323, 140729326, 140729330-140729338, 140729381 |
| 501 | SHOX | X | 0.57110352673493 | 377 | 879 | 591633-591858, 591873-591879, 591900-591909, 595353-595368, 595395-595396, 595433-595438, 595452-595561 |
| 502 | CSF2RA | X | 0.56858237547893 | 563 | 1305 | 1401600-1401601, 1401625-1401626, 1401653-1401660, 1404671-1404722, 1404778-1404781, 1404787-1404790, 1407693-1407697, 1407766-1407768, 1409249, 1409292, 1409297-1409324, 1409346-1409394, 1413221-1413246, 1413272-1413354, 1414332-1414349, 1419384-1419412, 1419424, 1419438, 1419442, 1419451-1419496, 1419501-1419519, 1422154-1422255, 1422816-1422828, 1422844-1422879, 1422884-1422912 |
| 503 | KAL1 | X | 0.9985315712188 | 3 | 2043 | 8699988-8699990 |
| 504 | ARX | X | 0.98046181172291 | 33 | 1689 | 25031522, 25031525-25031526, 25031574-25031576, 25031653-25031678, 25031782 |
| 505 | DMD | X | 0.99990956773377 | 1 | 11058 | 32398679 |
| 506 | RPGR | X | 0.69817866435386 | 1044 | 3459 | 38144869, 38144895, 38144903-38144909, 38145000-38145001, 38145010-38145018, 38145021-38145026, 38145051-38145079, 38145083-38145085, 38145113-38145118, 38145127, 38145163-38145914, 38145925, 38145929-38145969, 38145980, 38145986, 38145990-38146014, 38146041-38146047, 38146073-38146090, 38146128-38146136, 38146139-38146141, 38146144-38146148, 38146169-38146173, 38146241-38146258, 38146263, 38146305-38146306, 38146333, 38146338-38146341, 38146401, 38146445-38146498, 38147144-38147148, 38147156-38147162, 38147202-38147218, 38147227 |
| 507 | TSPAN7 | X | 0.99866666666667 | 1 | 750 | 38420878 |
| 508 | BCOR | X | 0.99981017463933 | 1 | 5268 | 39931648 |
| 509 | NYX | X | 0.98686030428769 | 19 | 1446 | 41333349-41333352, 41333359-41333369, 41333954-41333957 |
| 510 | AR | X | 0.99891422366992 | 3 | 2763 | 66765159-66765161 |
| 511 | EDA | X | 0.99659863945578 | 4 | 1176 | 68836319, 69247796-69247798 |
| 512 | TAF1 | X | 0.98257655755016 | 99 | 5682 | 70586180-70586242, 70586297-70586323, 70586328-70586331, 70586336-70586339, 70586343 |
| 513 | ABCB7 | X | 0.99778956675508 | 5 | 2262 | 74293593-74293597 |
| 514 | BRWD3 | X | 0.99926049177297 | 4 | 5409 | 80064940-80064943 |
| 515 | XIAP | X | 0.99397590361446 | 9 | 1494 | 123025120-123025128 |
| 516 | FAM58A | X | 0.99047619047619 | 7 | 735 | 152864508, 152864512-152864513, 152864516-152864519 |
| 517 | SLC6A8 | X | 0.85744234800839 | 272 | 1908 | 152954030-152954258, 152956958-152956964, 152959364-152959370, 152959465-152959472, 152960174-152960193, 152960591 |
| 518 | ABCD1 | X | 0.75111706881144 | 557 | 2238 | 152990722-152990761, 152990797, 152990803-152990827, 152990853, 152990856, 152990864, 152990876-152990882, 152990893, 152990930-152990938, 152990952-152990957, 152990981-152991001, 152991023-152991052, 152991074, 152991163-152991171, 152991193-152991214, 152991248-152991251, 152991336-152991338, 152991350-152991356, 152991380-152991399, 152991424-152991431, 152991463-152991502, 152991571-152991580, 153001640-153001664, 153001801-153001809, 153001822, 153001860-153001885, 153001916-153001918, 153002611, 153002672, 153005632-153005634, 153006085, 153006092-153006093, 153006127-153006156, 153008473-153008487, 153008675-153008678, 153008755-153008791, 153008943-153008956, 153008981-153008987, 153009002-153009066, 153009097-153009098, 153009115-153009155, 153009173-153009175 |
| 519 | MECP2 | X | 0.97261189044756 | 41 | 1497 | 153363061-153363101 |
| 520 | OPN1LW | X | 0.99360730593607 | 7 | 1095 | 153418538-153418544 |
| 521 | OPN1MW | X | 0.97260273972603 | 30 | 1095 | 153453474-153453496, 153459077-153459083 |
| 522 | OPN1MW | X | 0.96986301369863 | 33 | 1095 | 153490592-153490614, 153496107, 153496121, 153496125, 153496195-153496201 |
| 523 | FLNA | X | 0.95002517623364 | 397 | 7944 | 153577821, 153577881, 153580302-153580305, 153580622-153580628, 153581020, 153581684, 153581688, 153581710, 153583013, 153583016, 153583020-153583029, 153583411, 153585829, 153586567-153586589, 153586628, 153586842, 153587687-153587690, 153587750-153587754, 153587931, 153588008-153588014, 153588106-153588141, 153588164-153588205, 153588220-153588249, 153588270, 153588419-153588425, 153588429, 153588436-153588437, 153588444, 153588577-153588601, 153588649, 153588654-153588655, 153588739, 153588827, 153588862-153588868, 153589679, 153589787, 153589791-153589804, 153589807, 153590416, 153590441-153590450, 153591052-153591056, 153593189-153593190, 153593781-153593791, 153594400-153594423, 153594430, 153594709, 153594773, 153594821-153594823, 153595134, 153595174-153595180, 153596028, 153596039, 153599288-153599291, 153599412-153599417, 153599434-153599446, 153599477-153599516, 153599549-153599552, 153599555-153599556, 153599559, 153599563, 153599566, 153599569-153599572, 153599582, 153599591, 153599611-153599613 |
| 524 | EMD | X | 0.94248366013072 | 44 | 765 | 153608072-153608078, 153608081-153608084, 153608111-153608140, 153609455-153609457 |
| 525 | TAZ | X | 0.98225602027883 | 14 | 789 | 153640214, 153640233-153640236, 153640289, 153640451, 153640512-153640518 |
| 526 | G6PD | X | 0.998778998779 | 2 | 1638 | 153760253, 153760258 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 4 | FUT2-W154* | homozygous | 0.491 | Recessive protective | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 4 | FUT2-G258S | homozygous | 0.509 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 3 | COL4A1-Q1334H | het unknown | 0.325 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-V7L | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | GNRHR-R139H | het unknown | 0.000 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2.5 | MEFV-K695R | het unknown | 0.002 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.917 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 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 |
| 2 | KCNE1-D85N | het unknown | 0.009 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.066 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | KCNE1-S38G | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-E538K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | SP110-L425S | homozygous | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-G299R | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-W112R | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | NPC1-I858V | homozygous | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | NPC1-M642I | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | NPC1-H215R | homozygous | 0.296 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | 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 |
| 2 | RET-R982C | het unknown | 0.016 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.885 (probably damaging), 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-I2313V | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-T98I | homozygous | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | CYP2C9-R144C | het unknown | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 2 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 2 | CHIT1-G102S | homozygous | 0.281 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 2 | PAX8-F329L | het unknown | 0.020 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.018 (benign), Testable gene in GeneTests |
| 1.5 | PIGR-A580V | het unknown | 0.248 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1.5 | OPTN-M98K | het unknown | 0.061 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 1.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.5 | CETP-A390P | het unknown | 0.039 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests |
| 1.5 | CETP-V422I | het unknown | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.5 | AKAP10-I646V | homozygous | 0.452 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | AKAP10-R249H | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CYP2A6-F392Y | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CYP2A6-L160H | het unknown | 0.017 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.045 (benign) |
| 1.5 | LRP5-V667M | het unknown | 0.041 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | LRP5-A1330V | het unknown | 0.110 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | TPMT-Y240C | het unknown | 0.046 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 1.5 | TPMT-A154T | het unknown | 0.028 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.667 (possibly damaging) |
| 1.5 | TPMT-E98* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | SEBOX-L207S | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ATG9B-A790V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KRT4-Q230R | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT4-A146V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | VDR-M1T | homozygous | 0.676 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | KCP-D621V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-K395E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | 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 | COL2A1-G1405S | homozygous | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-I81V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-C194* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | TNXB-R48P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TRIM64-I58T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-V68L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRIM64-V238M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRPC6-A404V | homozygous | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests |
| 1 | TRPC6-P15S | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TSEN54-I137L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TSEN54-K347N | het unknown | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TSEN54-A437V | het unknown | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | TSEN54-P483A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ11-V337I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ11-L270V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ11-K23E | het unknown | 0.738 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | TYR-R402Q | het unknown | 0.205 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | MS4A14-Q612H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 1 | AP1S2-T35A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | homozygous | Unknown | 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 | HLA-DQB1-V235I | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-S233G | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-T217I | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-S214N | homozygous | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-R199H | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-A172T | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-G157A | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-G102R | homozygous | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D89A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-R87P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-Q85L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-G77E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-G45A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-F41Y | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-LL28PV | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-S27T | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-V15A | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D12G | homozygous | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | FERMT1-R526K | homozygous | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | FERMT1-R255C | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 1 | FERMT1-I160T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 1 | ZNF273-H256N | homozygous | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 1 | HLA-DQA1-L8M | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A11T | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-C34Y | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-F41S | homozygous | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-T49S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-Q57E | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E63G | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A68V | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R70Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-W71L | homozygous | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E73L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-S75R | homozygous | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-K76R | homozygous | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-G84F | homozygous | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R87T | homozygous | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M89I | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-IM98SL | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-IM98SL | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Y103S | homozygous | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-T130I | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q152H | homozygous | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q198E | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q198E | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M230V | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-F238L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-Q241R | homozygous | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | TGIF1-P292S | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NR_027052-Q90* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | HPS1-V631I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HPS1-G283W | homozygous | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SCARF2-A832G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SCARF2-A814G | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-A745Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SLC38A10-E676D | homozygous | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 1 | SLC38A10-K559R | homozygous | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.813 (possibly damaging) |
| 1 | ADAM3A-L329Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ADAM3A-R215G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ADAM3A-G95Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027127-W61* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | het unknown | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | het unknown | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-G528S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-E603Q | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GPR98-L127R | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.654 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-L1093F | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V1951I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-P1987L | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-Y2232C | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2345S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2584S | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3471K | het unknown | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3867K | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E5344G | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V5427M | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V5876I | 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 | PCSK1-S690T | het unknown | 0.235 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 1 | PCSK1-Q665E | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PCSK1-N221D | het unknown | 0.036 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-M356I | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | het unknown | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | TLR5-F822L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | TLR5-F616L | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 1 | TLR5-R392* | het unknown | 0.044 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 1 | TLR5-Q181K | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | DPYD-V732I | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests |
| 1 | DPYD-K259E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | DPYD-R29C | het unknown | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL23R-Q3H | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | IL23R-L310P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | IL23R-R381Q | het unknown | 0.048 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | FAM58A-Q15Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | TRPM1-P1379T | homozygous | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests |
| 1 | TRPM1-S32N | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TRPM1-M1T | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | RGPD4-D761G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZNF598-P640L | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | ZNF598-G42Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF598-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DEFB126-Q55Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DEFB126-P106Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CYP11B2-V386A | homozygous | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SPERT-S286* | homozygous | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 1 | SPERT-K329E | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AK124052-A117Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | F5-D2222G | het unknown | 0.045 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-M1764V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-N817T | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.978 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-M413T | het unknown | 0.058 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TMPO-Q599E | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATP6V0A2-A813V | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-G893R | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-V1064I | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-E2643Del | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | ADRB2-G16R | het unknown | 0.413 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | ADRB2-E27Q | homozygous | 0.661 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | ADRB2-T164I | het unknown | 0.011 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AK300656-R11* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | GABRG2-G235C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | ANKK1-A239T | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.852 (probably damaging) |
| 0.75 | ANKK1-G442R | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ANKK1-E713K | het unknown | 0.237 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CHRNA5-D398N | het unknown | 0.249 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.75 | ERCC6-Q1413R | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.75 | ERCC6-R1213G | het unknown | 0.197 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.75 | ERCC6-M1097V | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | ERCC6-D425A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | BLMH-I443V | het unknown | 0.285 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ITGAM-R77H | het unknown | 0.105 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
| 0.75 | ITGAM-A859V | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ITGAM-P1147S | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-I57V | het unknown | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-F31I | het unknown | 0.188 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.625 | UNC13D-K867E | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | UNC13D-W822Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | UNC13D-A59T | het unknown | 0.017 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | OBSL1-R1767Q | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | OBSL1-Q1578R | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | OBSL1-E1365D | het unknown | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | OBSL1-T737Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | OBSL1-R723K | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-M848V | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | het unknown | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EMP3-I125V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.878 (probably damaging) |
| 0.5 | ERCC2-K751Q | het unknown | 0.319 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | ABAT-Q56R | homozygous | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | KCNC3-D63G | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | ZNF224-M118V | homozygous | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM187B-W231* | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FAM187B-V216I | homozygous | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | FAM187B-W188* | homozygous | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | FAM187B-C160R | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | ESPN-G454S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ESPN-A457S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DLL3-F172C | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DLL3-L218P | het unknown | 0.593 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CD19-L174V | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LYPD4-T184S | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | PRX-G1132R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-A1091T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PRX-P1083R | het unknown | 0.130 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-I921M | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | homozygous | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDILT-G529E | homozygous | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDILT-R527K | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDILT-P415S | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PDILT-A26T | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NAPSA-A310T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | KLK13-H109Y | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 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-T400K | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.157 (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 | ADPGK-P93Shift | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MSH6-G39E | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | CEP152-L914V | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | CYP1A1-T461N | het unknown | 0.036 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | CYP1B1-V432L | het unknown | 0.445 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-A119S | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-R48G | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNNT1-E12G | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF151-V66I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RNF151-H130Q | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | RNF151-I242V | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ZNF480-C3Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | C2orf71-S1225SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C2orf71-L792V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CACNA1H-D946Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CACNA1H-G1445Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CACNA1H-R2060H | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLC28A1-R510C | het unknown | 0.041 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLC28A1-D521N | het unknown | 0.360 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE8A-L55V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | IL12RB1-G378R | homozygous | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | IL12RB1-M365T | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL12RB1-Q214R | homozygous | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL12RB1-R156H | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests |
| 0.5 | BRCA1-S1634G | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-K1183R | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | BRCA1-P871L | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-D693N | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT40-C349R | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.81 (possibly damaging) |
| 0.5 | KRT40-C265Y | het unknown | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRT40-R108H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | RNF157-G208R | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (probably damaging) |
| 0.5 | SLFN14-Y770F | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | SLFN14-K385E | homozygous | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLFN14-P356S | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLFN14-V172A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SLFN13-K658N | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLFN13-E652K | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLFN13-A523T | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | SLFN13-S235F | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.888 (probably damaging) |
| 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 | LAMA3-P1208T | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-N2815K | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-H199R | het unknown | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | het unknown | 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 | SLC12A1-R116H | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC12A1-V958A | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRTAP4-8-A168T | het unknown | 0.682 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRTAP4-8-C30* | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | KRTAP4-8-P27H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DHX58-Q425R | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHX58-R95Q | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.296 (possibly damaging) |
| 0.5 | DHX58-T76A | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ABI3-R44Q | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ABI3-F209S | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EPN3-R170H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging) |
| 0.5 | EPN3-P544T | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SCN4A-N1376D | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | 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 | CACNG1-G196S | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 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-N1872K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 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-V363I | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-M1K | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-L1055LL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-T126A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP8-R295C | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | MYH13-R1822W | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MYH13-M1071V | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | MYH13-G701R | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | FAM125A-D249N | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CTNS-T260I | homozygous | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC7A6OS-Y220C | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | SLC7A6OS-G45D | homozygous | 0.637 | 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-L481M | homozygous | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TAF1C-C24Y | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CENPBD1-T168I | het unknown | 0.667 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | CENPBD1-C150Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CENPBD1-E35Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NOTCH3-A2223V | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1A-E992V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CACNA1A-E917D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ABHD15-R448Q | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ABHD15-T334A | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | 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 | SSH2-G1398S | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | SSH2-S743L | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | CTDP1-S61A | homozygous | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-S68P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | MAP2K3-A84T | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-T222M | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.815 (possibly damaging) |
| 0.5 | MAN2B1-N413S | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-T134S | het unknown | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | STXBP2-I526V | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | SPG11-F463S | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EPHX1-Y113H | het unknown | 0.257 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | EPHX1-H139R | het unknown | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LEFTY2-P286L | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ADSS-K226R | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | EDARADD-M9I | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-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-R2292H | het unknown | 0.021 | 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-I1665T | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | het unknown | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NAV1-Q937H | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging) |
| 0.5 | FCRLB-T32I | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | DDR2-M441I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | XCL2-R29K | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | XCL2-H28D | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | CACNA1S-R1539C | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-S606N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ASPM-L3132R | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-L2647I | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | PITRM1-Q1037R | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PITRM1-V621I | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.782 (possibly damaging) |
| 0.5 | PITRM1-A397V | homozygous | 0.682 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PITRM1-I328V | homozygous | 0.688 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PITRM1-F169S | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.939 (probably damaging) |
| 0.5 | PITRM1-L145V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TUBAL3-R250W | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC29A3-R18G | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-S158F | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-V239I | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-I326V | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | 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-N1280S | het unknown | Unknown | 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-T1996S | homozygous | 0.414 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYOF-F1400L | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CYP2C8-K399R | het unknown | 0.087 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CYP2C8-R139K | het unknown | 0.087 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | ADAMTS14-S270L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | ADAMTS14-L593P | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTS14-L940M | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHAT-A120T | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CUBN-S2717W | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC39A12-S36G | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC39A12-V304I | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC39A12-Q342R | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MYO3A-R319H | homozygous | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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-V369I | homozygous | 0.661 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-A833S | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | MYO3A-S956N | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-T1284S | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), 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 | ARHGAP22-T410K | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PTCHD3-*768Q | homozygous | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-I584M | homozygous | 0.960 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | homozygous | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | USP21-G321D | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | IGSF9-G34E | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | TMEM54-L110F | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.926 (probably damaging) |
| 0.5 | A3GALT2-T106Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GJB4-C169W | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | STIL-H985R | het unknown | 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 | BSDC1-I234V | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SPOCD1-P1089S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | SPOCD1-R436W | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | SPOCD1-T109A | het unknown | 0.669 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | KIF1B-V1554M | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCNKB-R27L | homozygous | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-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 | het unknown | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDA-K27Q | homozygous | 0.262 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEPN1-C108Y | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPN1-N467K | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FUCA1-Q286R | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | FUCA1-R2W | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests |
| 0.5 | EFCAB7-V324I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 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 | FLG-Q1914R | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S1352R | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-K144R | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-R140W | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RHBG-V143D | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G315R | homozygous | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-P424Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RHBG-H428R | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DARC-G42D | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DARC-R89C | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DARC-A100T | homozygous | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PEAR1-S234P | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PEAR1-S381F | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | ZNF687-G259E | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF687-G636S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | NOTCH2-P210L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH2-S106P | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GSTM1-S210T | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | PTPN22-W620R | homozygous | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTGFRN-S277T | het unknown | 0.657 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTGFRN-R430Q | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.869 (probably damaging) |
| 0.5 | PTGFRN-V837I | het unknown | 0.396 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPAG17-H2160Q | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SPAG17-L2036Q | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TTF2-K167E | homozygous | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | TTF2-K1134R | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | SCD-M224L | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL17A1-D1370G | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | STON1-GTF2A1L-K8N | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STON1-GTF2A1L-R127T | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STON1-GTF2A1L-Q607H | het unknown | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STON1-GTF2A1L-N963D | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STON1-GTF2A1L-T1043A | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_028064-H41Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TEP1-S1195P | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-N307K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-A1130T | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-V1101A | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-G56R | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-K192E | homozygous | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-A547S | het unknown | 0.232 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-E1033Q | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-Y1143C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SLC25A15-I254L | homozygous | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-R1840W | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | FREM2-T2326I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KNTC1-H748R | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.966 (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 | B3GALTL-E370K | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CSNK1A1L-R170S | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 0.5 | CSNK1A1L-D42E | homozygous | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BRCA2-N372H | het unknown | 0.237 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA2-V2466A | homozygous | 0.977 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GMPR2-G242D | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TJP1-D1347A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZFYVE19-S376A | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PLA2G4E-A39Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PLA2G4E-C5R | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | 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 | STRC-R1521Q | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPATA7-V74M | homozygous | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-T641A | homozygous | 0.959 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | C14orf104-D768G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | C14orf104-E62D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SYNE2-M1969T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | 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 | 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 | SIPA1L1-P56T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.679 (possibly damaging) |
| 0.5 | HNF1A-A98V | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SH2B3-W262R | homozygous | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ROM1-G118A | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | MEN1-T546A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | C2CD3-S1663N | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | C2CD3-R1219Q | homozygous | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DYNC2H1-Q304L | het unknown | 0.048 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests |
| 0.5 | DYNC2H1-N1576K | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DYNC2H1-R2871Q | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CD6-P105L | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CD6-T217M | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.975 (probably damaging) |
| 0.5 | CD6-A257V | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CD6-T539A | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CD6-G606S | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB1-G389R | homozygous | 0.681 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRLHR-P305L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.725 (possibly damaging) |
| 0.5 | PRLHR-I283V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SBF2-Q1216E | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-G102S | homozygous | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | INSC-D333N | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | TTC12-M73L | het unknown | 0.397 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TTC12-M468L | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DRD2-P310S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | NAV3-V20M | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | NAV3-T45A | homozygous | 0.973 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLEKHG7-D99G | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PLEKHG7-M212T | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.5 | TRPV4-P19S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-M239K | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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-S1647T | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GYS2-M363V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WNK1-T1056P | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWA5A-R757C | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | VWF-T1381A | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | het unknown | 0.503 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCNN1A-T722A | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SCNN1A-W552R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | GSG1-F39L | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | GNB3-G272S | het unknown | 0.053 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.184 (benign) |
| 0.5 | ZNF781-T97M | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | CPN2-Q509W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL23A1-T287A | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | COL23A1-R267W | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | BC040901-C89W | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-P93S | homozygous | 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 | ZNF192-G296S | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FLT4-R1324L | het unknown | 0.090 | 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 | NSD1-V614L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NSD1-S726P | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_003131-M159V | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_003131-Q17Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SPINK5-Q267R | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-A335V | homozygous | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-S368N | homozygous | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-K420E | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-R711Q | homozygous | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GM2A-I59V | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GM2A-M69V | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GM2A-V153A | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 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 | SLC36A3-R190H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.371 (possibly damaging) |
| 0.5 | SLC36A3-K167E | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-H-D29A | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-P32Q | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-E34M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-H-Q61R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-G109S | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-R141Q | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-S182W | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MDC1-R1883Q | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | NFKBIE-V194A | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NFKBIE-P175L | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | AARS2-V730M | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | AARS2-I339V | homozygous | 0.886 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PKHD1-Q4048R | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-Q621R | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EFHC1-R159W | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 0.5 | CAPN11-I145Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CAPN11-V266M | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 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 | PSORS1C2-P94Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PSORS1C2-L83P | homozygous | 0.919 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PSORS1C1-E34K | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PSORS1C1-R37Shift | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | PSORS1C1-P133L | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HSPA1L-E602K | homozygous | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | COL11A2-P894L | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-E276K | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2518E | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | homozygous | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SRA1-V110RL | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBXL21-N31Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBXL21-V172Del | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FBXL21-P208L | het unknown | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MANBA-T701M | homozygous | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MANBA-V253I | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | HADH-L86P | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HADH-F92C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | KIAA1109-I978T | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1109-S2521R | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.385 (possibly damaging) |
| 0.5 | CFI-T300A | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMRN1-T58A | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | MMRN1-R1227L | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CDS1-L99F | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-Q74P | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-Y258H | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | 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 | TLR6-S249P | homozygous | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CNGA1-S3F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CNGA1-E2K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CCDC158-R134Q | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | EPHA5-N81T | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (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 | NR3C2-V180I | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSD17B4-R106H | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HSD17B4-I559V | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.5 | ZNF474-R95Q | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.868 (probably damaging) |
| 0.5 | ZNF474-S274C | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.354 (possibly 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 | IL13-Q144R | homozygous | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | 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 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DCHS2-H2633Y | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | DCHS2-K2475R | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | DCHS2-E1595Q | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCHS2-S1205L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | DCHS2-N897S | het unknown | 0.891 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | DCHS2-S344L | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCHS2-A321V | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | DCHS2-H174R | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.317 (possibly damaging) |
| 0.5 | UFSP2-K103R | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | 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 | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL7R-I66T | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | homozygous | 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 | AMACR-E277K | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-Q239H | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-L201S | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-G175D | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-V9M | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | 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-D26A | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), 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 | ELOVL4-E272Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | ABCA1-K1587R | het unknown | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-R219K | het unknown | 0.393 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IKBKAP-I816L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-G765E | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | DFNB31-N796K | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUSK-S159G | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUSK-M413I | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IPPK-L376F | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
| 0.5 | ROR2-V819I | het unknown | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-T245A | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GSDMC-M475T | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GSDMC-P23S | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ZC3H3-P857S | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | ZC3H3-A228S | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.068 (benign) |
| 0.5 | ZC3H3-E151D | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM154A-A422V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | FAM154A-K345R | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | FAM154A-C313W | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.087 (benign) |
| 0.5 | FAM154A-P63S | homozygous | 0.819 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM154A-K27E | homozygous | 0.530 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.387 (possibly damaging) |
| 0.5 | TJP2-D482E | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TJP2-M668I | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DNAI1-A8S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-V1540L | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTGS1-W8R | homozygous | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTGS1-L237M | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | OPHN1-V39I | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests |
| 0.5 | PGAM4-R86H | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OPN1LW-L153M | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GABRE-P437L | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GABRE-P421S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GABRE-S102A | homozygous | 0.611 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | CACNA1F-R1930H | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-K2366Q | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R1745H | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABO-P353Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ABO-P155L | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-S74P | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-H63R | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-F36V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FCN1-T150M | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | KAL1-V534I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | 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 | NKX3-1-R52C | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.788 (possibly damaging) |
| 0.5 | DAGLB-L456V | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | MACC1-S515L | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.09 (benign) |
| 0.5 | MACC1-A151V | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MACC1-L31V | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH11-E34L | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | het unknown | 0.718 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GARS-P42A | homozygous | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PMS2-M622I | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.591 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WISP3-Q74H | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAMA2-R619H | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAMA2-R1844S | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAMA2-A2585V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE1-L8741M | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-F7302V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L5015M | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SOD2-V16A | homozygous | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-S36P | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-P122S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | FNDC1-T438A | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-E463Q | het unknown | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-Q1003E | het unknown | 0.854 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-D1180E | het unknown | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.47 (possibly damaging) |
| 0.5 | FNDC1-L1261P | het unknown | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.38 (possibly damaging) |
| 0.5 | FNDC1-Q1280R | het unknown | 0.853 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-T1504K | het unknown | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TXNDC3-R43K | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | TXNDC3-R390T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TXNDC3-I493T | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (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 | ATP6V0A4-V2A | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | MCPH1-R171S | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R304I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | het unknown | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-T682N | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HR-Q528R | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | HR-L526P | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HR-C397Y | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | HR-G337D | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NAT2-I114T | homozygous | 0.398 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC032716-Y42Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | MLXIPL-A358V | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.345 (possibly damaging) |
| 0.5 | MLXIPL-Q241H | het unknown | 0.093 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.697 (possibly damaging) |
| 0.5 | ABCB1-S893A | het unknown | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCB1-N21D | het unknown | 0.074 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP3A7-R409T | homozygous | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | 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 | 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 | 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 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TMC2-R123K | homozygous | 0.657 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMC2-W217R | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | GBE1-T507A | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-I334V | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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-M2988V | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A2960Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | LMOD3-R83H | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SEC14L4-E211D | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.94 (probably damaging) |
| 0.5 | SEC14L4-S3G | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PPARG-P12A | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests |
| 0.5 | ATIC-T116S | homozygous | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | DBI-M71V | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.297 (possibly damaging) |
| 0.5 | KIAA1407-E696D | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | KIAA1407-R374W | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ABHD12-A349T | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.453 (possibly damaging) |
| 0.5 | PHLDB2-C349R | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | CRNKL1-Q50* | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 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 | 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 | 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 | SEC14L3-D335E | het unknown | 0.695 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC14L3-R214H | het unknown | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SEC14L3-I103T | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | SEC14L3-L88P | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.376 (possibly damaging) |
| 0.5 | SEC14L3-R63W | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 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 | IGFBP5-R138W | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | CAPN7-A128T | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TTN-I23649T | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-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 | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-G9378R | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R6646I | het unknown | Unknown | 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-V3261M | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S1295L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-K1201E | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | COL4A4-S1400P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRP2-I4210L | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRP2-A2872T | homozygous | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FLNB-D1157N | het unknown | 0.303 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNB-V1471M | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNB-K2006R | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB59-R265C | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests |
| 0.5 | DNAH1-V441L | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DNAH1-R1285W | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DNAH1-N2384S | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH1-R3744C | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DNAH1-H3832R | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GDF5-S276A | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GFM1-V215I | homozygous | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | GFM1-V664I | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.384 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TET3-P294S | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
| 0.5 | TRIOBP-E1372D | homozygous | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-W1377R | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.5 | TRIOBP-E2246K | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests |
| 0.5 | DYTN-Q474K | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DYTN-E203V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DYTN-S143A | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.208 (possibly damaging) |
| 0.5 | GGT1-G84S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | ABCF3-P503L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.554 (possibly 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 | homozygous | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCK1-V184L | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK1-I267V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests |
| 0.5 | PCK1-E276K | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CASP8-K14R | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CASP8-D344H | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL18A1-P286A | het unknown | Unknown | 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 | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 0.5 | CBR3-C4Y | homozygous | 0.368 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | HTR3E-E22Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HTR3E-A86T | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCDC39-T182S | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (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 | THNSL2-G41E | homozygous | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | THNSL2-T204N | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CP-T551I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.915 (probably damaging) |
| 0.5 | CP-E544D | homozygous | 0.851 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CPNE1-A402Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CPNE1-P347R | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging) |
| 0.5 | CPNE1-Q211R | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MERTK-R466K | homozygous | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MERTK-I518V | homozygous | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | TEKT4-Q96K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TEKT4-N409K | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | TEKT4-R424C | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.054 (benign) |
| 0.5 | TEKT4-P426T | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TEKT4-T427P | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | SALL4-L507R | het unknown | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EIF2AK3-A704S | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EIF2AK3-Q166R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL6A2-S399N | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | PRODH-R521Q | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | PRODH-W185R | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | PRODH-H89Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.375 | SLC26A2-I333T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | SLC26A2-I574T | het unknown | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | SARDH-E732Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.375 | SARDH-M648V | het unknown | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | SARDH-R614H | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 0.375 | ATXN3-G306QQQQQQR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | ATXN3-G306QQQQQQR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | ATXN3-V212M | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NPHS1-N1077S | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.25 | NPHS1-E117K | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | ASAH1-V246A | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ASAH1-I93V | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ASAH1-V72M | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCN1-G118W | het unknown | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | CPS1-T344A | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPS1-T1406N | het unknown | 0.329 | 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 | SIGLEC1-A974V | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.25 | SIGLEC1-H919P | het unknown | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SIGLEC1-K239R | het unknown | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SIGLEC1-V221M | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.25 | SIGLEC1-E88* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C10orf113-D100H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-R62G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PLG-D258N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PLG-D472N | het unknown | 0.261 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CNDP1-L17Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CNDP1-I113V | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CD226-S307G | het unknown | 0.451 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FECH-R102Q | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TH-V108M | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BAG3-P407L | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NDUFS7-P23L | het unknown | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | PLCE1-R1575P | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-T1777I | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-H1927R | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | COL4A3-G43R | het unknown | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-L141P | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-E162G | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-D326Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PTF1A-S263P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | LAMB3-M852L | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PANK2-G126A | het unknown | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | TYSND1-Q528Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TYSND1-T65A | homozygous | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.123 (benign) |
| 0.25 | TMEM67-I604V | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNA2-T125A | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | LEPR-K656N | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests |
| 0.25 | ADAMTS13-A900V | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LRP8-R952Q | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CPT2-V368I | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CTH-S403I | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GBP7-R181* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | GBP7-T14I | het unknown | 0.705 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GLI2-A1156S | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-D1306N | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TPO-A257S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TPO-A373S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | TPO-S398T | het unknown | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.25 | TPO-T725P | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NR5A1-G146A | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCA4-H423R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | OTOF-R82C | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FAAH-P129T | het unknown | 0.256 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | HTR2C-C23S | het unknown | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | LHCGR-N312S | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-S680N | het unknown | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-A307T | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLOD1-A99T | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLOD1-A120S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALPL-Y263H | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-R392C | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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-G1414A | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-I1875V | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-I2070T | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-S2111R | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-R2284P | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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-R2826S | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-N2856S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GGCX-R325Q | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | SLC3A1-M618I | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | ATRX-Q929E | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LDLRAP1-S202P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
| 0.25 | NLRP7-G487E | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | NGF-A35V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.25 | PRG4-R180W | het unknown | 0.299 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | PRG4-K205Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PRG4-T604A | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRG4-C746S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HMCN1-I2418T | het unknown | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-E2893G | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-Q4437R | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | NCF2-K181R | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LHX4-N328S | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CFH-H402Y | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFH-E936D | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | 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 | RP1-N985Y | het unknown | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.25 | RP1-C2033Y | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.25 | GGH-A31T | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GGH-C6R | het unknown | 0.228 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CNGB3-T298P | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGB3-C234W | het unknown | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E158K | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E308G | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NBN-E185Q | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FPR1-E346A | het unknown | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-N192K | het unknown | 0.434 | 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 | FKTN-R203Q | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF765-S389G | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF765-P465Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | VANGL1-A116T | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | IL6R-D358A | het unknown | 0.316 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
| 0.25 | SCN1A-A1056T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM160-G120S | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 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 | TG-R2530Q | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 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 | DOCK8-P97T | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.25 | FCRL5-H976Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FCRL5-V466I | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FCRL5-G418D | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FCRL5-Y267H | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNMT-Y251Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RNMT-S254G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | 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 |
| 0.25 | NIPBL-N674S | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MTHFD1-K134R | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MTHFD1-R653Q | het unknown | 0.376 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | ARSB-V358M | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
| 0.25 | VCAN-K1516R | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSHR-E727D | het unknown | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CPOX-N272H | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.037 (benign), Testable gene in GeneTests |
| 0.25 | CDAN1-R891C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q596R | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q107L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLR3-L412F | het unknown | 0.213 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | TERT-A279T | het unknown | 0.020 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TERT-G35F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | MYH15-R1748Q | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
| 0.25 | MYH15-T1125A | het unknown | 0.242 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | MYH15-T949I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.127 (benign) |
| 0.25 | MYH15-H504Y | het unknown | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.25 | SERPINA1-V237A | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FAM81B-P275S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAM81B-Q285Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM81B-D287N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PAX9-A240P | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | XPC-Q939K | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-K168N | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-M179T | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA2B-I874S | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYA4-G277S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-A94T | het unknown | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-C63Y | het unknown | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IRS2-G1057D | het unknown | 0.233 | Unknown protective | Low clinical importance, uncertain | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). |
| 0.25 | IRS2-P10R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | APC-V1822D | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | KRTAP3-2-R27C | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | MST1-R434Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MST1-T294S | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.17 (benign) |
| 0.25 | MST1-T159M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MST1-P144S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MST1-V121I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | DRD3-G9S | het unknown | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | NQO1-P187S | het unknown | 0.197 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.215 (possibly damaging) |
| 0.25 | DHODH-K7Q | het unknown | 0.542 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | DHODH-G18W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | FANCA-G809D | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCA-T266A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | UGT2B7-Y268H | het unknown | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B15-Y85D | het unknown | 0.508 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CLCN2-T668S | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NOD2-P268S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2B5-I587V | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | THAP11-Q113L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | THAP11-S134Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | TLR1-R80T | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | ADAMTSL3-H146R | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.25 | ADAMTSL3-L290V | het unknown | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL3-V661L | het unknown | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LOXL1-R141L | het unknown | 0.256 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.25 | LOXL1-G153D | het unknown | 0.221 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.135 (benign) |
| 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 | DUOX2-S1067L | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DUOX2-H678R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DUOX2-P138L | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FGB-R478K | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GUCY2D-A52S | het unknown | 0.210 | Recessive benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GUCY2D-L782H | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | UMPS-G213A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AK298931-E88Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK298931-W38* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AK298931-T4S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | BBS4-I354T | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AIPL1-D90H | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS12-R386Q | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS12-D467N | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNB1-E32G | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NIPAL4-R213G | het unknown | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FGF23-T239M | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRERF1-C834S | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.989 (probably damaging) |
| 0.25 | TRERF1-S678Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | PRPH2-D338G | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PRPH2-R310K | het unknown | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PRPH2-Q304E | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KIF6-W719R | het unknown | 0.507 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | KIF6-R512H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign) |
| 0.25 | TULP1-K261N | het unknown | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-I259T | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-T67R | het unknown | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | 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 | HYLS1-C31R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0.25 | TCP11-V516Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TCP11-G266A | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TCP11-D45A | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PEX6-P939Q | het unknown | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CARD14-E494Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CARD14-R547S | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DSC3-R102K | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-S78T | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RAG1-H249R | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AIM1-A73T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AIM1-E1196A | het unknown | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.25 | ABCC8-A1369S | het unknown | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MADD-V751M | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SERPING1-V480M | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | 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 | 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 | IGHMBP2-L201S | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IGHMBP2-T671A | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC19A1-H27R | het unknown | 0.504 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | COL6A1-S890L | het unknown | 0.159 | 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-P480L | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
| 0.25 | SNX19-G381S | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SNX19-V361L | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KRT1-K633R | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT1-S557G | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | F13A1-V35L | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | 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 | 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 | BRIP1-S919P | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TBX4-A314V | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests |
| 0.25 | FGFR4-P136L | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FGFR4-G388R | het unknown | 0.241 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
| 0.25 | FANCD2-P714L | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RNF43-P686R | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.777 (possibly damaging) |
| 0.25 | RNF43-L418M | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 0.25 | RNF43-R343H | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | RNF43-I47V | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | GRM6-Q59P | het unknown | 0.616 | 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 | SCO2-R20P | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYH9-I1626V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT5-G543S | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT5-S528G | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLCO1B3-S112A | het unknown | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B3-M233I | het unknown | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.25 | CDKN1B-V109G | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.25 | MICA-L145V | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-G198S | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-I236T | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R274Q | het unknown | 0.478 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | TCF19-A147Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TCF19-M211V | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B1-N130D | het unknown | 0.528 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B1-V174A | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | 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 | KRT6C-R182Q | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT83-H493Y | het unknown | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRIM15-S324N | het unknown | 0.181 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0 | FLNA-Y1525* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
| 0 | MBL2-G54D | het unknown | 0.104 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0 | RHAG-V270I | het unknown | 0.038 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,744,467,739 bases (96.9% of callable positions, 90.8% of total positions)
Coding region coverage: 32,173,197 bases (96.9% of all genes, 97.6% 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