hu250634 - GET-Evidence variant report

Variant report for hu250634

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1APOE-C130RHighWell-establishedWell-established pathogenic

Complex/Other, Homozygous
0.135392This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).1
2BCHE-D98GModerateWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
A well-established recessive variant causing "Butyrylcholinesterase deficiency" or "pseudocholinesterase deficiency". According to Yen, et al. this is the most well-studied variant causing that deficiency. This causes increased sensitivity to choline esters and certain other drugs.1
3HABP2-G534EModerateLikelyLikely pathogenic

Unknown, Heterozygous
0.0280721Known as the "Marburg I" polymorphism, this variant is associated with increased risk of coronary heart disease (CHD) in individuals with elevated cholesterol, triglyceride, and fibrinogen levels (5-fold risk of a CHD event, compared to 2-fold risk increase in people with the same risk factors but do not have this variant). In individuals without these elevated levels, however, carriers of the variant do not appear to have any increased risk of CHD.1
4SIAE-M89VModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0400632This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort.1
5SERPINA1-E288VLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0304889This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.1
6MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This 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
7KRT5-G138ELowLikelyLikely pathogenic

Unknown, Heterozygous
0.0521472This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).1
8PDE11A-R307XLowLikelyLikely pathogenic

Unknown, Heterozygous
0.00409074May cause increased risk of Cushing Syndrome and/or adrenocortical tumors. If this hypothesis is true, it is unclear how strong the effect of this variant would be -- the variant is predicted to be very disruptive.1
9MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This 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
10POLG-Q1236HLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0581893Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.1
11TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe 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
12ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
13SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This 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
14HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
15TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This 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
16CLEC7A-Y238XLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0632088This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.1
17H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
18WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
19ITPA-P32TLowWell-establishedWell-established pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0609779This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.1
20ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
21CFB-R32QModerateLikelyLikely protective

Dominant, Heterozygous
0.117188This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.1
22NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This 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
23CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
24KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This 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
25LIG4-A3VLowUncertainUncertain protective

Dominant, Heterozygous
0.035843One report has associated this with a decreased risk of multiple myeloma.1
26MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
27IRS2-G1057DLowUncertainUncertain protective

Unknown, Heterozygous
0.232615a.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
28ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
29ADA-D8NLowLikelyLikely benign

Dominant, Heterozygous
0.0295359This common variant is reported to reduce adenosine deaminase enzyme activity. It has been associated with an increased tendency for non-REM sleep -- more slow wave sleep, less nocturnal wakings, and a stronger negative impact of sleep deprivation. A role for this gene and variant was previously proposed for autism susceptibility, but this is controversial and was not replicated by later studies.1
30CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
31NEFL-S472ShiftLowLikelyLikely 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
32MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
33RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably 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
34TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
35VWF-G2705RLowUncertainUncertain benign

Unknown, Heterozygous
0.0460123Probably benign, seems to be considered an uncommon polymorphism.1
36TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This 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
37NSD1-A2546TLowUncertainUncertain benign

Unknown, Heterozygous
0.0254001Benign, reported as a polymorphism.1
38PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
39ELN-G581RLowUncertainUncertain benign

Unknown, Homozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
40DSP-R1537CLowUncertainUncertain benign

Unknown, Heterozygous
0.0104109Probably benign / nonpathogenic.1
41APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
42PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
43PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
44SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
45RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably 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
46PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
47TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This 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
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32092369 / 33282720 = 96.42%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.947051156728583256138955553-955749, 957704, 957772-957773, 957779-957784, 957806, 970657-970663, 970666, 970687-970704, 976181-976183, 976221, 976229-976243, 983559-983577, 983599, 983621-983643, 983675-983680, 983687-983688, 983691, 983698-983699, 983703-983706, 983711, 983714-983716, 983722, 984300-984305, 984308-984311
2GABRD10.944076526857987613591950863-1950930, 1961459-1961466
3PEX1010.91437308868502849812337923-2337955, 2338217, 2338272-2338276, 2340027, 2340036, 2343841, 2343894-2343935
4NPHP410.9378649848166326642816012783-6012800, 6012836-6012845, 6012856-6012884, 6021892, 6021966-6021969, 6027368-6027374, 6029305, 6038330-6038473, 6046218-6046236, 6046251-6046252, 6046278, 6046286-6046314, 6046342
5ESPN10.9524366471734912225656488304, 6488322, 6488325, 6488333, 6488378-6488384, 6488426-6488432, 6488466-6488467, 6500465-6500488, 6500712, 6500768, 6500782-6500783, 6500789, 6500840-6500868, 6501029-6501035, 6508829-6508835, 6508880-6508886, 6509021-6509036, 6512127-6512133
6PLEKHG510.989338350580123431896529179-6529212
7KIF1B10.999623564840962531310316305-10316306
8TARDBP10.90522088353414118124511073920, 11076935-11076946, 11082234, 11082261, 11082270-11082280, 11082356-11082362, 11082441, 11082452-11082453, 11082465, 11082477-11082478, 11082500, 11082505, 11082530, 11082555-11082613, 11082660-11082666, 11082698-11082707
9MASP210.67879670063076662206111086942-11086944, 11086954-11086958, 11086974-11087009, 11087134, 11087140, 11087149, 11087355, 11087367-11087369, 11087380-11087384, 11087387-11087390, 11087444, 11087478, 11087483-11087495, 11087524, 11087547-11087549, 11087584, 11087622-11087631, 11087687-11087694, 11087702-11087705, 11090300-11090303, 11090820-11090849, 11090895-11090908, 11094885-11094904, 11094938-11094941, 11097762, 11097772, 11097799, 11097828-11097859, 11102982-11102988, 11103015, 11103038-11103053, 11103079, 11103410-11103417, 11103432-11103473, 11103482, 11103541-11103574, 11103582-11103587, 11103591-11103592, 11105465-11105530, 11105544-11105559, 11105582-11105596, 11106622-11106628, 11106638-11106674, 11106695, 11106701-11106705, 11106717-11106729, 11106754-11106790, 11106948-11106955, 11106961-11107009, 11107082-11107124, 11107137, 11107145-11107176, 11107260-11107264
10PLOD110.997710622710625218412023669, 12024842, 12030753-12030754, 12030855
11CLCNKA10.9932170542635714206416349191-16349197, 16354391-16354397
12CLCNKB10.996608527131787206416383399-16383405
13ATP13A210.9918148461755629354317313565-17313593
14SDHB10.99644128113879384317350499, 17350534, 17380474
15HSPG210.99521857923497631317622263648-22263710
16WNT410.9479166666666755105622469339-22469344, 22469359-22469384, 22469393-22469415
17FUCA110.9386152748037186140124194433-24194450, 24194464, 24194571-24194591, 24194607-24194640, 24194676, 24194680, 24194693-24194698, 24194718-24194720, 24194745
18SEPN110.89028776978417183166826126722-26126904
19YARS10.9848771266540624158733256803-33256807, 33263378, 33282803, 33282809-33282825
20LEPRE110.999547715965631221143232589
21MPL10.998427672955973190843805140-43805142
22MUTYH10.99553855959217156945798784-45798790
23STIL10.998448409619866386747753271-47753276
24DHCR2410.998065764023213155155352587, 55352641, 55352665
25ALG610.996732026143795153063836687, 63862219-63862222
26CTH10.998357963875212121870877208, 70881714
27GLMN10.9635854341736765178592729243, 92730119-92730158, 92731976-92731980, 92733525, 92733682-92733692, 92757078-92757080, 92762978-92762981
28RPL510.92617449664436689493298946-93298963, 93299013, 93300365-93300368, 93300437-93300470, 93307327-93307333, 93307375, 93307378
29DPYD10.99935022742042307898157353-98157354
30COL11A110.98992120212571555457103345330, 103352425-103352432, 103363724-103363725, 103364231-103364272, 103364497-103364498
31GSTM110.83713850837139107657110230496-110230531, 110230800-110230801, 110230808, 110230815, 110230835-110230846, 110230856-110230867, 110231691, 110232907-110232913, 110233137-110233138, 110235885-110235917
32AMPD110.99108734402852202244115215772-115215775, 115216277-115216285, 115216346, 115222234, 115222237, 115222883, 115223001-115223003
33VANGL110.98793650793651191575116227960-116227978
34CASQ210.9991666666666711200116244016
35NOTCH210.983953613807981197416120512239, 120539668, 120539687, 120539691, 120539711, 120539739-120539784, 120539837, 120539916, 120539936, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611989-120612009
36PRPF310.903021442495131992052150305169-150305171, 150305605-150305670, 150307666-150307670, 150307685-150307690, 150307696-150307698, 150310733-150310750, 150312904-150312905, 150315794-150315800, 150315868-150315874, 150315882-150315893, 150315903, 150315910-150315914, 150315916-150315928, 150316662-150316665, 150316693-150316703, 150316933, 150318555-150318576, 150318593, 150325356, 150325361-150325363, 150325387, 150325436-150325440, 150325454-150325455
37FLG10.0983915969144921098712186152275192-152275213, 152275280-152275284, 152275310-152275315, 152275339-152275346, 152275350-152275367, 152275380, 152275402-152275424, 152275435, 152275493-152275495, 152275609-152275610, 152275616-152275627, 152275709-152275717, 152275770-152275801, 152275814-152275861, 152275867, 152275892-152275895, 152275898, 152275927-152275933, 152275941-152275973, 152275982-152276038, 152276053-152276058, 152276062, 152276067, 152276072, 152276081-152276112, 152276122-152276170, 152276183-152276212, 152276243-152276320, 152276327-152276328, 152276343-152276415, 152276424-152276437, 152276456-152277189, 152277196-152278161, 152278168-152278522, 152278538-152278942, 152278952-152279828, 152279837-152279899, 152279905-152280394, 152280416-152280554, 152280582-152280639, 152280643, 152280646, 152280674-152280762, 152280774-152280867, 152280885-152281149, 152281172-152281193, 152281203-152281332, 152281350-152281366, 152281374-152281411, 152281429-152281697, 152281703-152281994, 152282004-152282030, 152282049-152282075, 152282091-152282548, 152282559-152282771, 152282781-152282824, 152282834-152283664, 152283671-152284636, 152284643-152284761, 152284772-152285588, 152285595-152285640, 152285647-152285920, 152285935-152286341, 152286349-152286624, 152286631-152286753, 152286771-152286822, 152286832-152286896, 152286907-152286979, 152286993-152287053, 152287065-152287195, 152287205-152287206, 152287209-152287223, 152287807-152287810, 152287833, 152287847-152287856, 152287859-152287868, 152287883-152287932
38GBA10.9983291562238921197155186729, 155186742
39GBA10.97579143389199391611155204994, 155205008, 155205040-155205046, 155207980-155208009
40PKLR10.9988405797101421725155269984, 155269991
41NTRK110.9962358845671392391156844176, 156844180-156844187
42ATP1A210.9879203395364373063160093101-160093106, 160094950-160094980
43MPZ10.9974259974262777161275739, 161275742
44DARS210.844169246646033021938173794394-173794398, 173794435-173794455, 173795874-173795878, 173799804, 173799807-173799829, 173800700, 173800712-173800719, 173803654-173803657, 173806115-173806116, 173807382-173807397, 173808614, 173808618-173808628, 173808674, 173810004-173810028, 173810106-173810111, 173814367-173814385, 173819465-173819617
45NPHS210.953125541152179520464-179520486, 179526253-179526256, 179530450-179530475, 179544898
46HMCN110.9905370238940116016908185897762, 185964171, 186036966-186036977, 186062298-186062299, 186086597, 186088877-186088907, 186092084, 186092177, 186092347, 186094744, 186094814-186094853, 186094860, 186094863, 186097387, 186101474, 186105942, 186135433-186135435, 186136025-186136063, 186141154-186141164, 186141237-186141242, 186147814-186147816, 186157033
47CDC7310.9987468671679221596193091341, 193091350
48CFH10.98647186147186503696196621261-196621262, 196621267-196621269, 196658627-196658632, 196658715-196658725, 196659195-196659214, 196659217, 196716389-196716395
49CFHR110.88016112789527119993196794607-196794617, 196794707, 196794740-196794768, 196794777-196794796, 196796046-196796085, 196797204, 196797292, 196801003-196801007, 196801023, 196801042, 196801074-196801082
50CFHR510.933333333333331141710196963255-196963288, 196963306-196963311, 196963380, 196964847-196964856, 196964949, 196967299-196967301, 196967306-196967307, 196967327, 196967332-196967340, 196967371-196967382, 196971684-196971687, 196973837-196973859, 196973864, 196973886, 196973891-196973895, 196977644
51ASPM10.991374353076489010434197069590-197069597, 197069794-197069822, 197069905-197069916, 197069949-197069965, 197070045-197070048, 197070485-197070490, 197070697, 197070755-197070759, 197072448-197072453, 197072757, 197074211
52CD4610.97083333333333351200207956646, 207958994-207959027
53USH2A10.998462425523742415609215808007, 215823951-215823959, 216424345, 216496836-216496842, 216496847-216496852
54LBR10.97132034632035531848225607417-225607456, 225607474-225607480, 225607500, 225609827-225609831
55ADCK310.846707818930042981944227149087-227149104, 227149206-227149234, 227152701-227152704, 227152721-227152742, 227152768-227152818, 227152833-227152891, 227152913-227152934, 227153055-227153070, 227153372-227153386, 227153412-227153438, 227169795-227169797, 227170666, 227170716-227170734, 227171269, 227171326, 227171475, 227172330-227172336, 227174428, 227174431
56GJC210.856818181818181891320228346028-228346072, 228346101-228346115, 228346134-228346147, 228346228-228346275, 228346319-228346324, 228346351-228346398, 228346423-228346432, 228346487, 228346491-228346492
57LYST10.996756093284243711406235826242, 235826249-235826264, 235827786, 235827789-235827799, 235827841-235827847, 235872582
58EDARADD10.998456790123461648236631548
59RYR210.9881239935587817714904237205842-237205853, 237659953-237659957, 237787099-237787121, 237791129, 237791167-237791204, 237791323-237791334, 237794727-237794752, 237794786-237794829, 237796916-237796929, 237798215, 237801770
60NLRP310.9987142397942843111247588363-247588366
61NET1100.9363484087102211417915454656-5454719, 5454726-5454771, 5454780-5454783
62IL2RA100.99755799755828196063566-6063567
63OPTN100.9907727797001216173413151212-13151220, 13151224, 13151238, 13151244-13151248
64DCLRE1C100.9846079846079832207914968855-14968885, 14970044
65CUBN100.99770051508462251087216979714, 16982182-16982188, 17142051-17142057, 17142179, 17146542, 17146571-17146578
66PTF1A100.954407294832834598723481528, 23481878-23481920, 23482055
67MYO3A100.999175427746864485126385563-26385566
68PDSS1100.998397435897442124827035262, 27035335
69MASTL100.9799014031095953263727444407-27444409, 27444412, 27444468-27444492, 27448612-27448628, 27454382-27454388
70ERCC6100.9973226238286512448250736487, 50740802-50740808, 50740835-50740838
71PCDH15100.999830191883171588956287585
72EGR2100.9923130677847711143164573473-64573481, 64573486, 64573495
73KIAA1279100.9555198285101883186670760192, 70760205-70760207, 70760272-70760277, 70764834-70764848, 70765488-70765501, 70765573, 70765628-70765634, 70768638-70768639, 70768648-70768658, 70768663-70768676, 70770681, 70770686, 70775419-70775422, 70775426-70775428
74VCL100.9911894273127830340575758102, 75758105, 75758125, 75802883-75802908, 75873962
75BMPR1A100.9912445278298914159988683143-88683149, 88683416-88683422
76GLUD1100.9713774597495548167788854401-88854402, 88854455, 88854467-88854509, 88854525-88854526
77PTEN100.99834983498352121289720651-89720652
78ANKRD1100.983333333333331696092678913-92678916, 92678952-92678963
79COX15100.98783454987835151233101486794-101486801, 101486852-101486854, 101491748, 101491752-101491754
80CPN1100.9970951343500441377101802269-101802272
81FBXW4100.98870056497175141239103427699-103427702, 103454285-103454291, 103454358-103454360
82HPS6100.941580756013751362328103825282, 103825337-103825342, 103825372-103825398, 103825407, 103825438-103825473, 103825492-103825508, 103825650-103825654, 103825702, 103825705-103825727, 103825730-103825737, 103825782-103825783, 103825963, 103826043-103826045, 103826115, 103826264, 103826593, 103826596, 103827448
83SUFU100.9993127147766311455104263995
84HTRA1100.95148995148995701443124221201-124221228, 124221294, 124221344-124221384
85ACADSB100.94226327944573751299124800128-124800135, 124800139-124800149, 124800818-124800820, 124800853, 124800866-124800873, 124810589-124810605, 124812613, 124812630, 124813257-124813281
86HRAS110.80526315789474111570532672, 532677, 532744-532747, 533466, 533562, 533580, 533607, 533790-533791, 533813-533818, 533894-533942, 534279-534322
87TALDO1110.9792899408284211014747487-747497, 747518, 763395-763403
88SLC25A22110.998971193415641972792583
89PNPLA2110.99669966996751515819742-819746
90CTSD110.6537530266343842912391774737-1774743, 1774747-1774750, 1774754, 1774759-1774761, 1774798-1774900, 1775033-1775060, 1775101-1775131, 1775239-1775265, 1775273-1775288, 1775310-1775368, 1778592-1778617, 1778714-1778720, 1780199-1780200, 1780220-1780264, 1780829-1780830, 1785022-1785089
91TNNT3110.99871299871317771955675
92H19110.99906629318394110712017981
93IGF2110.233473980309425457112154233, 2154241-2154277, 2154294-2154453, 2154747-2154751, 2154757-2154767, 2154769, 2154778-2154835, 2154856-2154895, 2156597-2156626, 2156669-2156699, 2156715, 2156725-2156754, 2161365-2161371, 2161394-2161526
94TH110.7892063492063533215752185499-2185527, 2185583, 2186480, 2186504-2186518, 2186564, 2186567, 2186961-2186982, 2187232-2187262, 2187710-2187728, 2187738-2187779, 2187886-2187927, 2187946-2187974, 2188131-2188169, 2188189-2188196, 2188242-2188248, 2188253-2188262, 2189118-2189125, 2189750-2189761, 2191940-2191952, 2191977-2191978
95KCNQ1110.8754308222550525320312466329-2466360, 2466388-2466420, 2466443-2466490, 2466514-2466571, 2466595-2466639, 2466645-2466680, 2466714
96CDKN1C110.590956887486863899512905900-2905909, 2905915-2905944, 2905957-2905989, 2906009-2906137, 2906163-2906222, 2906230-2906240, 2906276, 2906328-2906395, 2906401, 2906410-2906422, 2906445-2906447, 2906450-2906461, 2906477, 2906511-2906512, 2906516-2906524, 2906562-2906566, 2906718
97SMPD1110.99630801687764718966411935-6411941
98SBF2110.998558558558568555010014047-10014054
99LDHA110.926926926926937399918418507-18418509, 18422388, 18422487, 18422514, 18422527, 18424487, 18425268-18425277, 18425282-18425283, 18427052-18427096, 18428698, 18428741-18428747
100WT1110.9871299871299920155432449502, 32456750-32456766, 32456807-32456808
101DDB2110.994548286604367128447236787-47236788, 47237941-47237945
102MADD110.999797734627831494447306585
103MYBPC3110.998169934640527382547371586-47371592
104SLC39A13110.9471326164874659111647435985-47436026, 47436427-47436441, 47436679-47436680
105RAPSN110.9652945924132443123947460462-47460472, 47463399-47463412, 47464325-47464331, 47469597-47469603, 47470341-47470343, 47470384
106GIF110.999202551834131125459603377
107TMEM216110.98484848484848426461165327-61165329, 61165333
108SLC22A12110.838146811071269166264359098-64359106, 64359153-64359168, 64359354-64359369, 64359424, 64359428, 64360257-64360284, 64360300, 64360312-64360324, 64360332-64360337, 64360340, 64360885, 64361154-64361185, 64366003-64366005, 64366092-64366098, 64367164-64367179, 64367192-64367231, 64367256-64367304, 64367312-64367338, 64367354, 64367858
109EFEMP2110.999249249249251133265638719
110CST6110.98666666666667645065780312-65780317
111AIP110.8982880161127910199367256893-67256906, 67257547-67257562, 67257593, 67257637, 67257811-67257849, 67257879-67257887, 67257890, 67258276-67258279, 67258284, 67258338-67258343, 67258377, 67258384-67258391
112LRP5110.9651402640264169484868080183-68080273, 68153841, 68153879, 68153918-68153929, 68154053-68154054, 68154072-68154082, 68154090, 68157433-68157439, 68191165, 68204450-68204453, 68207309, 68207348-68207384
113IGHMBP2110.997317236753868298268671449-68671456
114MYO7A110.95983754512635267664876885926, 76890091-76890108, 76890145-76890175, 76890831-76890873, 76890902-76890903, 76890908-76890943, 76891447-76891462, 76891526-76891527, 76893026-76893028, 76893034, 76893040, 76893154-76893192, 76893490-76893494, 76893535-76893557, 76893567-76893580, 76893623, 76893626, 76893631-76893643, 76894113-76894125, 76894132-76894135
115ALG8110.80645161290323306158177812033-77812054, 77812179-77812181, 77812184, 77812187, 77812222, 77812232, 77812238, 77815056-77815059, 77817942, 77820489-77820494, 77823760, 77823774-77823808, 77824947-77824987, 77825325, 77825331-77825348, 77830228-77830229, 77830254-77830258, 77830279, 77832113-77832125, 77832146-77832158, 77832193-77832220, 77835090-77835127, 77835166, 77835169-77835189, 77835246-77835260, 77838421-77838432, 77838436-77838439, 77838467-77838482
116MTMR2110.986024844720527193295595463, 95621396-95621418, 95657109-95657111
117DYNC2H1110.968173039783741212945102999675-102999684, 103004284-103004301, 103004431-103004436, 103005137-103005148, 103006250, 103006263, 103006328-103006352, 103006491, 103006499, 103006524-103006528, 103006569-103006606, 103014077, 103018540, 103018596, 103019227-103019235, 103022946-103022947, 103022986-103022999, 103024056, 103024129, 103024225, 103026185-103026192, 103029475-103029498, 103029521-103029523, 103029685-103029695, 103029700, 103029706, 103031685-103031688, 103039628-103039629, 103040887-103040915, 103040948-103040950, 103041718-103041719, 103041724, 103041764, 103043811-103043836, 103043857-103043864, 103043910, 103043915, 103043937-103043975, 103044011-103044034, 103047073-103047083, 103048420, 103049779, 103049783, 103049787, 103049812-103049813, 103049841-103049843, 103049931-103049935, 103052552, 103052584-103052588, 103057036-103057037, 103057040, 103057048-103057049, 103057171, 103058189, 103058203, 103062330, 103062858-103062866, 103070788, 103090703-103090719, 103091424, 103093773, 103270418-103270422
118ACAT1110.9953271028037461284107992369-107992374
119ATM110.9956384254716409171108114743, 108114752, 108139301, 108142121, 108160494-108160504, 108164152-108164161, 108178701-108178711, 108202268-108202270, 108235940
120RDX110.9971461187214651752110104064, 110108228-110108231
121DLAT110.99125514403292171944111896989-111897004, 111930689
122SDHD110.985416666666677480111965597-111965603
123TECTA110.97540603248261596465120976566, 120976569, 120980004, 120980053-120980056, 120980163, 120983791-120983815, 120983844, 120983856, 120983879, 120983904-120983907, 120983910-120983915, 120984262, 120984315-120984316, 120984338-120984339, 120984346-120984353, 120984361-120984362, 120984384-120984418, 120984425-120984427, 120989178-120989179, 120989205-120989222, 120989425-120989427, 120996029-120996065
124KCNJ1110.9974489795918431176128709847, 128710000-128710001
125WNK1120.981535879143941327149862912-862915, 862950, 863066-863078, 863123-863138, 863203-863204, 863259-863290, 922899-922905, 989111-989115, 994404-994405, 994498-994499, 994502-994508, 994801-994818, 1006699-1006702, 1017039-1017045, 1017130-1017135, 1017142, 1017649-1017651, 1017665, 1017711
126CACNA1C120.99969516841945265612566871-2566872
127VWF120.99407723288325084426128064-6128105, 6131926-6131932, 6132030
128TNFRSF1A120.99707602339181413686438612, 6450947-6450949
129SCNN1A120.967078189300417221876457370, 6457956, 6458144-6458153, 6458343, 6458363, 6463935, 6471295-6471296, 6471300, 6472686, 6472692-6472699, 6472702, 6472754, 6472761, 6472823-6472864
130ATN1120.996921354603971135737043428-7043435, 7045892-7045894
131ABCC9120.93870967741935285465021960298-21960317, 21964983-21964989, 21965062-21965070, 21967607-21967633, 21967654, 21968750-21968764, 21991043-21991048, 21995346, 21997449-21997450, 21998546-21998613, 21998749-21998763, 22005325-22005343, 22025571-22025615, 22025658-22025664, 22035741-22035750, 22035803, 22078966-22078997
132BCAT1120.994832041343676116124989472-24989477
133FGD4120.99869621903523230132735022-32735024
134DNM1L120.9954771596562610221132886675-32886680, 32890811-32890812, 32890855, 32891215
135PKP2120.95863166268894104251433049452-33049480, 33049532-33049540, 33049560-33049610, 33049641-33049655
136KIF21A120.99979943842761498639733986
137LRRK2120.9899789029535976758440713834, 40734179-40734196, 40745461, 40745472-40745473, 40749917-40749947, 40757228-40757247, 40758805, 40761530, 40761536
138IRAK4120.9718004338394839138344166728-44166738, 44166783-44166795, 44171496-44171500, 44171539, 44180483-44180491
139TUBA1A120.894736842105264845649522210-49522216, 49522256-49522284, 49522311, 49522317, 49522383-49522389, 49522468, 49522578, 49522605
140KRT81120.9762845849802436151852682999-52683005, 52684021-52684049
141KRT86120.9746748802190337146152696905-52696934, 52697949-52697955
142KRT6B120.992920353982312169552842736, 52844240-52844249, 52845601
143KRT6C120.9710914454277349169552866060, 52867102-52867136, 52867190, 52867324, 52867339-52867342, 52867413-52867419
144AAAS120.999390615478371164153708166
145TSFM120.99488752556237597858190186-58190190
146GNS120.9909584086799315165965141672-65141676, 65153008-65153013, 65153016-65153019
147LEMD3120.9923245614035121273665563620-65563621, 65563932, 65563935-65563939, 65604730-65604742
148BBS10120.998618784530393217276741024-76741026
149CEP290120.9970430107526922744088443120, 88472944-88472964
150TMPO120.995683453237419208598909850, 98909886-98909888, 98909892-98909895, 98927720
151SLC25A3120.9770431588613425108998987845-98987854, 98992300-98992302, 98993804, 98994976-98994986
152GNPTAB120.966056748872981283771102153808-102153836, 102153857-102153877, 102155049-102155050, 102155379, 102155516-102155529, 102158598, 102158699-102158701, 102159070-102159082, 102161862, 102163823, 102224406-102224447
153TRPV4120.9996177370030612616110246166
154ATP2A2120.9996804090763813129110780175
155ATXN2120.88964992389654353942111957747-111957750, 111957757-111957759, 112036592-112036827, 112036897-112036919, 112036929, 112036958-112037051, 112037070-112037123, 112037187, 112037190, 112037221-112037238
156SDS120.995947315096254987113835146-113835147, 113836531, 113836545
157HNF1A120.9984177215189931896121434099, 121434199, 121437329
158ATP6V0A2120.9996110462854912571124229429
159SACS130.9998544395924321374023913020, 23915085
160B3GALTL130.9739478957915839149731774248-31774270, 31774276-31774291
161SPG20130.9935032483758113200136888414, 36909188, 36909425-36909430, 36909452-36909456
162FREM2130.999894847528921951039263714
163SUCLA2130.9461206896551775139248528326-48528327, 48528374, 48528377-48528381, 48528570-48528576, 48547481, 48562676-48562682, 48562703-48562730, 48570997-48571016, 48571074-48571077
164RB1130.9820595622533250278748954201-48954204, 49039143-49039185, 49039475-49039476, 49039491
165RNASEH2B130.987220447284351293951484236-51484247
166EDNRB130.993227990970659132978477730-78477738
167GPC6130.998201438848923166894482732-94482734
168ZIC2130.97560975609756391599100634398, 100634404, 100635004-100635040
169PCCA130.9817101051669402187101101506-101101523, 101101533-101101553, 101101559
170ERCC5130.98655343241331574239103510671-103510677, 103514855, 103514867, 103518083-103518122, 103518144-103518151
171COL4A1130.99600798403194205010110959292, 110959334, 110959338-110959340, 110959343-110959357
172F7130.82671335113760156-113760162, 113760197-113760219, 113765028-113765078, 113765085-113765137, 113770001-113770058, 113770074-113770095, 113770111, 113771815-113771817, 113771820-113771821, 113771856-113771857, 113772924-113772927, 113773025-113773027, 113773030, 113773033-113773066, 113773190-113773191, 113773317
173F10130.899795501022491471467113777221-113777223, 113777226-113777228, 113801755-113801756, 113803238-113803252, 113803316-113803320, 113803357-113803380, 113803412, 113803483-113803495, 113803525-113803546, 113803569-113803579, 113803622-113803633, 113803698-113803699, 113803736-113803758, 113803821-113803831
174GRK1130.97399527186761441692114321719, 114321751, 114321773-114321774, 114322138, 114322143-114322146, 114322197-114322213, 114322289, 114324118, 114325958, 114426084-114426098
175RPGRIP1140.9779849779849885386121762938, 21762964-21762967, 21769188, 21769298, 21769303, 21769309, 21769316-21769327, 21769332, 21769368-21769372, 21771561-21771569, 21775914-21775953, 21813313-21813321
176PABPN1140.91856677524437592123790681-23790683, 23790696-23790698, 23790706, 23790851-23790894, 23790942-23790960, 23791025-23791029
177FOXG1140.80068027210884293147029236495-29236504, 29236601-29236613, 29236624-29236626, 29236675-29236722, 29236745-29236960, 29237068-29237070
178FANCM140.9980478282088812614745605295, 45650863, 45667977, 45669143-45669151
179C14orf104140.998011137629285251450100683, 50101359, 50101366, 50101369-50101370
180GCH1140.897742363877827775355369127-55369142, 55369211-55369215, 55369241-55369252, 55369262-55369270, 55369289-55369323
181SIX6140.962213225371122874160976215, 60976540-60976558, 60976612-60976615, 60976675-60976678
182ZFYVE26140.9984251968503912762068241756-68241760, 68242687-68242689, 68251818-68251821
183PSEN1140.9878917378917417140473678602-73678617, 73683948
184MLH3140.9933516735442529436275497309-75497312, 75497316-75497337, 75500173-75500175
185GALC140.9897959183673521205888459366-88459370, 88459425-88459431, 88459433-88459434, 88459448, 88459482-88459487
186ATXN3140.991712707182329108692537295, 92537354-92537357, 92560129-92560132
187AMN140.872246696035241741362103394773-103394777, 103395157-103395162, 103395506-103395513, 103395583-103395584, 103396360-103396364, 103396520-103396549, 103396589-103396664, 103396743-103396762, 103396809-103396830
188INF2140.931466666666672573750105173764-105173787, 105173924-105174019, 105174042-105174127, 105174273-105174312, 105174896, 105177503-105177512
189NIPA1150.7727272727272722599023048830-23048839, 23048926-23048934, 23048938-23048940, 23049072-23049080, 23049259-23049274, 23086234-23086411
190SNRPN150.99723374827109272325222174-25222175
191UBE3A150.9889649923896529262825615777-25615783, 25616251-25616271, 25616837
192SLC12A6150.999710396756441345334628678
193CHST14150.995579133510175113140763523-40763524, 40763527-40763529
194STRC150.992304804804841532843910863-43910903
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317MCOLN1190.99942627653471117437598514
318STXBP2190.974186307519644617827707143-7707145, 7707151, 7707317-7707322, 7708051-7708079, 7711218-7711224
319ADAMTS10190.9993961352657233128650094, 8651006
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323PRKCSH190.9855072463768123158711558275, 11558341-11558343, 11558542-11558560
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328JAK3190.9937777777777821337517940938, 17940991, 17949099-17949107, 17953315-17953320, 17954698-17954701
329SLC5A5190.998964803312632193217984963, 17984969
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332SCN1B190.956629491945483580735521725-35521759
333MAG190.82668793195109326188135786839-35786843, 35790457-35790480, 35790487-35790539, 35790553, 35790560-35790561, 35790566-35790570, 35790594-35790606, 35790632-35790653, 35790657, 35790669-35790673, 35790679-35790713, 35790726-35790731, 35790735, 35790739, 35791064-35791065, 35791072-35791157, 35791298-35791307, 35793400-35793422, 35793469-35793478, 35793549, 35793552, 35793563-35793565, 35800789-35800800, 35802906-35802909
334COX6B1190.961685823754791026136142223-36142232
335PRODH2190.9751707014276840161136303036, 36303308-36303346
336NPHS1190.999731615673641372636322644
337SDHAF1190.99425287356322234836486184-36486185
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340DLL3190.997307485191175185739993577, 39993664, 39997679-39997681
341PRX190.8077975376197843438640900673-40900689, 40900697, 40900713-40900734, 40900818, 40900865, 40900934-40900953, 40901010, 40901143-40901162, 40901184-40901193, 40901241, 40901248-40901250, 40901302-40901305, 40901373, 40901445-40901460, 40901496-40901502, 40901643-40901647, 40901650-40901652, 40901703, 40901707-40901709, 40901759-40901803, 40901839-40901845, 40901911-40901944, 40902024-40902048, 40902066-40902121, 40902132-40902154, 40902188-40902230, 40902291-40902307, 40902333-40902341, 40902345, 40902366, 40902369, 40902394-40902402, 40902423, 40902494, 40902522-40902524, 40902527, 40902633-40902636, 40902667-40902668, 40902711, 40902714, 40902758-40902798, 40902846-40902872, 40902908-40902943, 40902989, 40903087, 40903136, 40903225, 40903249, 40903256, 40903261-40903272, 40903408-40903432, 40903453-40903472, 40903475, 40903510, 40903551-40903561, 40903564, 40903582-40903590, 40903660-40903691, 40903720-40903742, 40903749-40903782, 40903797-40903799, 40903854-40903877, 40904532-40904557, 40904563, 40904681-40904701, 40909613-40909626, 40909663-40909712, 40909733-40909734, 40909767
342TGFB1190.81670929241262215117341837030-41837044, 41837065, 41847814, 41854207-41854215, 41854227-41854247, 41854297-41854300, 41854314-41854358, 41858638-41858686, 41858698-41858699, 41858730-41858750, 41858762-41858767, 41858772-41858787, 41858792, 41858802, 41858812-41858820, 41858936-41858949
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344ATP1A3190.91544317563893311367842470737-42470808, 42470818-42470823, 42470835, 42470838-42470839, 42470874-42470901, 42470918-42470992, 42471046-42471076, 42471158-42471159, 42471263-42471283, 42471357-42471382, 42471432-42471438, 42473034-42473038, 42480569-42480587, 42480618-42480622, 42485923, 42489249-42489253, 42489307-42489311
345ETHE1190.7163398692810521776544011015-44011054, 44012096-44012149, 44012167-44012212, 44012927-44012955, 44012969-44013016
346BCAM190.9766825649178644188745312383, 45312413-45312451, 45323992-45323995
347BLOC1S3190.99507389162562360945682697, 45682824-45682825
348ERCC2190.93823915900131141228345864883-45864899, 45867064-45867106, 45867305-45867315, 45867344-45867345, 45867509-45867547, 45867754-45867758, 45867788-45867789, 45868188-45868204, 45873794-45873798
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350DMPK190.92962962962963133189046274275, 46274293-46274318, 46281002, 46281474-46281478, 46281859-46281870, 46282560, 46285489-46285503, 46285510-46285540, 46285566-46285606
351FKRP190.77284946236559338148847258714-47258747, 47258812, 47258817-47258818, 47259005-47259013, 47259019-47259039, 47259066-47259081, 47259136-47259153, 47259191-47259209, 47259250-47259256, 47259276, 47259307-47259308, 47259318-47259323, 47259349-47259355, 47259386-47259388, 47259413-47259453, 47259463, 47259497-47259517, 47259522, 47259528, 47259570, 47259624-47259625, 47259646-47259683, 47259719-47259755, 47259947-47259959, 47259977, 47260064-47260084, 47260120, 47260170-47260182
352DBP190.906952965235179197849138847, 49138851, 49138903-49138920, 49138935-49138945, 49138948-49138966, 49139087-49139098, 49139168-49139196
353FTL190.912878787878794652849468817, 49468840, 49468843, 49469067, 49469087, 49469110, 49469573, 49469857-49469886, 49469902-49469910
354GYS1190.9891598915989224221449496312-49496335
355MED25190.997771836007135224450339499-50339503
356MYH14190.9914907543773552611150728890-50728919, 50764738-50764757, 50792833-50792834
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358KLK4190.87189542483669876551410253, 51411892-51411927, 51412075-51412079, 51412534-51412557, 51412614-51412645
359ETFB190.9884726224783912104151857450, 51857702-51857712
360NLRP12190.9896421845574433318654297305-54297312, 54301611, 54301665-54301666, 54304500-54304501, 54304622-54304629, 54304632, 54307285, 54307322, 54312887, 54313661-54313663, 54313864-54313867, 54314392
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362PRPF31190.81133333333333283150054631448-54631482, 54631697-54631724, 54632438-54632440, 54632443-54632465, 54632475-54632532, 54632538-54632560, 54632651-54632672, 54632693-54632745, 54634765-54634801, 54634859
363NLRP7190.99903660886323311455435217-55435219
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365TNNI3190.944170771756983460955666143-55666155, 55666162-55666166, 55666178-55666179, 55666185-55666198
366TPO20.9436117059243415828021520655-1520677, 1520690-1520745, 1544369, 1544407-1544442, 1544454-1544495
367KLF1120.995451591942827153910183844-10183845, 10183859-10183860, 10183870-10183872
368APOB20.9993426818580291369221266771-21266779
369HADHB20.998596491228072142526496572, 26508370
370OTOF20.788788788788791266599426695404-26695439, 26696140-26696150, 26696307-26696350, 26696388-26696409, 26696874-26696978, 26697381-26697542, 26698241, 26698273-26698283, 26698290-26698295, 26698306-26698340, 26698361, 26698789-26698807, 26698839-26698871, 26698996-26699000, 26699012-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700558, 26700585-26700617, 26702132-26702138, 26702147-26702167, 26702216-26702221, 26702232, 26702242-26702251, 26702341-26702345, 26702355-26702399, 26702436-26702461, 26702485-26702521, 26703150-26703154, 26703728, 26705290
371EIF2B420.99693627450985163227592856-27592860
372ALK20.9882788402220957486329462580-29462600, 30143002, 30143211-30143212, 30143217, 30143417, 30143421-30143424, 30143497-30143499, 30143502-30143525
373SPAST20.9783900594273440185132289219-32289220, 32289240-32289242, 32289298-32289311, 32323869, 32323929-32323939, 32323945, 32362183-32362189, 32368460
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375SOS120.9955022488755618400239222333, 39222391-39222396, 39224558-39224566, 39234209, 39285898
376ABCG520.998977505112472195644040318, 44049990
377ABCG820.9723046488625156202244071743, 44078850, 44078854-44078856, 44079989, 44079992, 44099122-44099142, 44099161-44099174, 44099211-44099216, 44100982, 44101607-44101611, 44102356, 44102390
378LRPPRC20.998088410991648418544115766-44115769, 44223075-44223076, 44223079-44223080
379EPCAM20.987301587301591294547596665-47596672, 47596677-47596679, 47596685
380MSH220.980748663101654280547630334, 47630479-47630481, 47637486, 47639558, 47702292-47702305, 47705587-47705592, 47707915-47707933, 47710052-47710058, 47710062-47710063
381MSH620.95518001469508183408348010373-48010471, 48010488, 48010491-48010492, 48010498-48010512, 48010537-48010568, 48010599-48010630, 48030559, 48030562
382LHCGR20.997619047619055210048982662, 48982666, 48982759-48982761
383NRXN120.999774011299431442550318564
384EFEMP120.9892037786774616148256144826-56144830, 56144944-56144948, 56145002-56145004, 56145064-56145066
385SPR20.98854961832061978673114844-73114852
386ALMS120.93825975687787721250473613010-73613074, 73613291-73613292, 73651722-73651735, 73675094-73675096, 73675464, 73675923-73675934, 73676013-73676017, 73676147, 73676154, 73676184-73676197, 73676262, 73676265-73676269, 73676283, 73676339, 73676374, 73676401, 73676487, 73676618, 73676649-73676687, 73676844-73676847, 73676911, 73676916-73676928, 73676933, 73676960, 73677038-73677062, 73677319, 73677405-73677430, 73677519, 73677558-73677564, 73677709-73677715, 73677764-73677780, 73678039, 73678049-73678051, 73678339-73678353, 73678518-73678519, 73678536, 73678591-73678595, 73678601, 73678819, 73678923, 73679041-73679085, 73679150, 73679164, 73679307-73679320, 73679323-73679326, 73679334, 73679362-73679393, 73679453-73679455, 73679459-73679460, 73679463, 73679503-73679524, 73679567-73679634, 73679641-73679672, 73679690-73679693, 73679720-73679721, 73679724-73679728, 73679745, 73679778-73679810, 73679840, 73679878-73679886, 73679955, 73679960-73679974, 73679982-73679983, 73679987, 73680006, 73680121, 73680139, 73680165, 73680199, 73680210, 73680221, 73680224, 73680320-73680321, 73680348-73680351, 73680356, 73680362, 73680502-73680537, 73680660-73680661, 73680696, 73680709, 73680764, 73680936, 73680986-73680987, 73682367-73682368, 73746966, 73747011-73747031, 73747111, 73747122, 73784382-73784391, 73784448-73784472, 73786100-73786124, 73786256-73786269, 73800251, 73827996-73828002, 73828342
387MOGS20.999602227525861251474689007
388SUCLG120.992315081652268104184668456-84668462, 84668534
389GGCX20.996925779534487227785787999-85788005
390REEP120.99174917491749560686564619, 86564629-86564632
391EIF2AK320.9898537749925434335188887568-88887573, 88888279-88888287, 88888372-88888374, 88890451-88890454, 88892860-88892861, 88895142-88895148, 88926730-88926732
392ZAP7020.99892473118282186098340753-98340754
393RANBP220.928785529715766899675109336126-109336134, 109345588-109345601, 109347253-109347274, 109347336-109347341, 109347853-109347859, 109347874-109347909, 109352023-109352064, 109352071-109352117, 109352139-109352145, 109356964-109356975, 109357110-109357116, 109365376, 109367720-109367744, 109367754-109367775, 109367822-109367847, 109368082-109368111, 109368406-109368450, 109370306-109370323, 109370369-109370394, 109371656-109371662, 109371688-109371715, 109378557-109378560, 109378621-109378651, 109382601-109382641, 109383052-109383090, 109383268-109383274, 109383672-109383707, 109383768-109383798, 109383963-109383986, 109384004-109384013, 109384291-109384307, 109384628-109384634, 109399221-109399224, 109399227
394MERTK20.968963000112656320-112656353, 112656364, 112686840, 112686988, 112686994-112686998, 112687009-112687012, 112687016-112687026, 112687057-112687094, 112740545
395CFC120.9821428571428612672131280376, 131280745, 131280807-131280816
396RAB3GAP120.99626612355737112946135848603, 135888280-135888285, 135890520-135890523
397ZEB220.99122085048011323645145274886-145274917
398NEB20.9945929708621210819974152346979, 152419204-152419205, 152422032, 152432665-152432666, 152432762-152432863
399SCN2A20.99451645064806336018166179914-166179924, 166187896-166187908, 166188054-166188057, 166201193-166201195, 166201207, 166201218
400GALNT320.96319663512093701902166606346, 166611140-166611181, 166613597-166613604, 166613607, 166615971, 166621500, 166621513, 166626893-166626897, 166626904-166626905, 166627056, 166627116-166627122
401SCN1A20.9991662497915655997166870319-166870323
402SCN9A20.9996629592180725934167144973-167144974
403SLC25A1220.9995090819833112037172690523
404HOXD1320.98255813953488181032176957679-176957696
405AGPS20.99140111279717171977178257650-178257653, 178285009-178285021
406TTN20.99849373553587151100248179460433-179460434, 179464326, 179489340-179489352, 179510647-179510660, 179514891-179514907, 179515508, 179515515-179515518, 179516227, 179516657-179516658, 179517067-179517073, 179517252-179517258, 179523954-179523957, 179523975-179523982, 179527751-179527776, 179542520, 179549103, 179558659-179558700
407CERKL20.99249530956848121599182468589, 182468601, 182468648-182468650, 182468704-182468709, 182468775
408COL3A120.998636673483364401189872611-189872616
409MSTN20.97695035460993261128190927266-190927291
410STAT120.9995561473590812253191859841
411CASP1020.995538559592171569202050626, 202050677, 202050777, 202050812-202050814, 202050819
412CASP820.99010513296228161617202149570, 202149656-202149670
413BMPR220.97882579403272663117203378510-203378514, 203379699-203379702, 203383556-203383571, 203383661-203383667, 203384833-203384837, 203397322-203397327, 203420799, 203420844-203420846, 203421083, 203421173, 203421238-203421254
414NDUFS120.9958791208791292184206988910-206988915, 206991482-206991484
415ACADL20.99149265274555111293211057584-211057585, 211070393, 211089928-211089933, 211089938, 211089941
416ABCA1220.99781715459682177788215797427, 215910694-215910709
417OBSL120.9996485679142525691220435673, 220435884
418COL4A420.9998025276461315064227968768
419COL4A320.99222022740874395013228029501-228029518, 228153951-228153955, 228154796-228154804, 228155585-228155589, 228159710, 228163523
420SLC19A320.9946344735077181491228563530, 228563620-228563624, 228563667, 228564059
421COL6A320.9997902244598329534238296714-238296715
422AGXT20.97285835453774321179241808435-241808441, 241808703-241808719, 241810766-241810769, 241812433-241812436
423D2HGDH20.846104725415072411566242690675, 242690745, 242690770, 242707125-242707135, 242707151-242707196, 242707204-242707384
424C20orf54200.9992907801418411410746197
425IDH3B200.99913644214162111582640415
426AVP200.83030303030303844953063348-3063356, 3063402-3063436, 3063640-3063666, 3063692, 3063770-3063781
427PANK2200.9106830122591915317133869887-3869904, 3869958-3869961, 3869985-3870030, 3870096-3870099, 3870177-3870191, 3870212-3870245, 3870279-3870280, 3870284-3870285, 3870295-3870305, 3870308-3870315, 3870343-3870349, 3870359, 3888848
428C20orf7200.9672447013487534103813765884-13765908, 13782137-13782144, 13782239
429SNTA1200.80698287220026293151832031117-32031244, 32031250, 32031254-32031273, 32031283-32031426
430GDF5200.994023904382479150634025133-34025140, 34025147
431SAMHD1200.955874534821983188135526239, 35526275, 35559201-35559209, 35559233-35559234, 35579862-35579864, 35579901-35579927, 35579988-35580027
432CTSA200.997995991983973149744520238-44520240
433SALL4200.998734977862114316250408346-50408348, 50418878
434GNAS200.7560975609756118073857415162-57415190, 57415221-57415224, 57415228-57415229, 57415232-57415235, 57415285-57415306, 57415319-57415342, 57415387-57415393, 57415397, 57415401-57415405, 57415452-57415473, 57415551-57415572, 57415584-57415589, 57415593, 57415599-57415612, 57415689-57415691, 57415739, 57415747, 57415803-57415810, 57415859, 57415897-57415899
435GNAS200.99903660886323311457429650, 57429655, 57429668
436COL9A3200.9805352798053540205561448417-61448439, 61456343-61456359
437CHRNA4200.6104033970276734188461978095-61978096, 61978161-61978168, 61978200, 61981046-61981080, 61981096, 61981128, 61981169-61981216, 61981259, 61981263-61981280, 61981286-61981291, 61981364-61981372, 61981411-61981418, 61981435-61981503, 61981554, 61981577-61981582, 61981597-61981657, 61981667, 61981683-61981698, 61981722-61981726, 61981758-61981762, 61981780-61981796, 61981958, 61982121-61982127, 61982179-61982205, 61982239-61982247, 61987327-61987436, 61987723-61987730, 61987734-61987743, 61987753-61987767, 61990900-61991051, 61992442-61992517
438KCNQ2200.67888507063765841261962070951-62070981, 62071026-62071061, 62073759-62073884, 62076012-62076045, 62076064-62076187, 62076591-62076717, 62078102-62078151, 62078163-62078190, 62103521-62103648, 62103660-62103816
439SOX18200.63809523809524418115562679837-62679846, 62679900-62679910, 62679924-62679925, 62679932-62679933, 62680025-62680086, 62680120-62680124, 62680133-62680135, 62680512-62680748, 62680766-62680819, 62680830-62680832, 62680841-62680869
440APP210.9857328145265933231327354709-27354741
441BACH1210.9950248756218911221130715046-30715053, 30715113-30715115
442IFNGR2210.9418145956607559101434775864-34775922
443RCAN1210.910408432147566875935987075-35987079, 35987165-35987213, 35987249, 35987273-35987278, 35987284, 35987305-35987310
444CLDN14210.99583333333333372037833339-37833341
445AIRE210.77716727716728365163845705895-45705914, 45705934-45706012, 45706440-45706446, 45706476-45706525, 45706553, 45706861-45706864, 45706970-45707010, 45707438-45707440, 45708239-45708246, 45709559, 45709577-45709607, 45709897-45709914, 45710987-45710990, 45711013-45711019, 45711024, 45712896-45712899, 45712943, 45712968-45712969, 45712977, 45712982-45712983, 45713012-45713018, 45713036-45713058, 45713727, 45714284-45714321, 45714338, 45714374-45714375, 45714380-45714385, 45716287, 45717569
446ITGB2210.91428571428571198231046306715-46306759, 46308613, 46308616-46308625, 46308640-46308709, 46308724, 46308745-46308764, 46308792-46308795, 46309270, 46309393, 46309935-46309950, 46309979, 46309983-46310008, 46310016, 46311899
447COL18A1210.92136752136752414526546876548, 46876575-46876578, 46876626, 46876632-46876645, 46876662, 46876673, 46876704, 46888178-46888180, 46888204, 46888214, 46888235-46888278, 46888315-46888334, 46888497-46888503, 46888576-46888577, 46888582, 46888597-46888604, 46888653, 46888656-46888659, 46896293, 46896298, 46896365, 46897811-46897817, 46899839-46899840, 46899863, 46900433-46900434, 46900623, 46900640-46900661, 46900722, 46906831, 46906840-46906845, 46907405, 46908345, 46909403-46909410, 46909418-46909427, 46910189-46910230, 46910239-46910241, 46910250-46910258, 46910766-46910775, 46910778-46910785, 46911139-46911142, 46911156-46911160, 46911181-46911228, 46912454-46912478, 46912606, 46913090, 46913467-46913479, 46915339-46915342, 46916417-46916419, 46916430, 46916964-46916991, 46916999, 46917547, 46917550, 46917555, 46917559-46917567, 46917572-46917573, 46924426-46924434, 46925787-46925788, 46925792, 46931040
448COL6A1210.341755749919022032308747401765-47401861, 47402548-47402677, 47404212-47404383, 47406440-47406488, 47406495-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409051, 47409522-47409566, 47409666-47409692, 47410172-47410198, 47410292-47410336, 47410687-47410740, 47410893-47410900, 47410914-47410948, 47411924-47411959, 47411971-47411986, 47412078-47412130, 47412277-47412312, 47412662-47412724, 47414081-47414108, 47414128-47414143, 47417335-47417352, 47417396, 47417614-47417639, 47417643-47417645, 47417664-47417676, 47418035-47418085, 47418312-47418347, 47418811-47418817, 47418825, 47418837-47418862, 47418867, 47419067-47419132, 47419571-47419606, 47420673-47420681, 47421188, 47421214-47421216, 47421878-47421897, 47421908-47421954, 47422186, 47422193, 47422267-47422314, 47422533-47422540, 47422544, 47422598-47422606, 47423035-47423058, 47423305-47423321, 47423352-47423359, 47423384-47423424, 47423451-47423486, 47423492-47423536, 47423557, 47423568-47423581, 47423614-47423619, 47423630-47423633, 47423642-47423668, 47423686-47423688, 47423694-47423697, 47423751-47423761, 47423765-47423766, 47423788, 47423806, 47423817-47423847, 47423907, 47423918-47423927
449COL6A2210.78986928104575643306047531424-47531477, 47531484-47531502, 47531989-47532032, 47532068, 47532202-47532203, 47532456, 47535923-47535927, 47537358, 47537792-47537796, 47538579, 47538960, 47539702-47539710, 47539737-47539764, 47540429-47540460, 47540465-47540466, 47540477, 47540486, 47541006, 47541470-47541532, 47542022-47542026, 47542064, 47542795, 47542831-47542851, 47544821, 47545180-47545218, 47545458-47545460, 47545700-47545702, 47545711-47545713, 47545742-47545778, 47545823, 47545826, 47545875-47545880, 47545913, 47545916-47545931, 47546081-47546130, 47546140, 47546447, 47551885, 47551891-47551915, 47551927, 47551980-47551998, 47552001, 47552022, 47552058-47552069, 47552099-47552101, 47552105-47552126, 47552167, 47552200-47552216, 47552267-47552287, 47552304-47552342, 47552354-47552364, 47552367, 47552384, 47552418, 47552426-47552428, 47552444
450COL6A2210.5818713450292414334247552200-47552216, 47552267-47552287, 47552304-47552342, 47552354-47552364, 47552367, 47552384, 47552418, 47552426-47552428, 47552444, 47552477-47552524
451FTCD210.49876998769988815162647556925-47556926, 47556962-47556987, 47557153-47557159, 47557237, 47558422-47558461, 47558469-47558487, 47558495-47558530, 47558536-47558560, 47558834-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570100, 47570116-47570118, 47570122-47570164, 47570318-47570319, 47570345-47570354, 47570414-47570439, 47571472-47571506, 47571625-47571651, 47571842-47571845, 47571858-47571868, 47571880, 47572917-47572949, 47574073-47574075, 47574086-47574104, 47574193-47574202, 47574241-47574246
452PCNT210.999700329637431001147744196, 47801747, 47808782
453PRODH220.9572933998890777180318923533-18923572, 18923684, 18923700-18923734, 18923745
454GP1BB220.09339774557165956362119711093, 19711377-19711476, 19711484-19711505, 19711528-19711558, 19711572-19711921, 19711929-19711987
455TBX1220.88709677419355168148819748428-19748568, 19753937-19753962, 19754110
456UPB1220.99740259740263115524906771-24906773
457HPS4220.999526515151521211226859927
458CHEK2220.70130607609313526176129083895-29083917, 29083946-29083974, 29085163-29085203, 29090020-29090024, 29091124-29091162, 29091173-29091203, 29091778-29091819, 29091837-29091844, 29099521-29099535, 29107922-29107923, 29107932, 29115383-29115409, 29115422-29115428, 29115444-29115473, 29120972, 29121017-29121034, 29121045, 29121050-29121052, 29121059, 29121062, 29121067-29121073, 29121288, 29121300-29121310, 29121337-29121355, 29126408-29126505, 29126512-29126536, 29130474-29130481, 29130500-29130522, 29130553, 29130659-29130666
459NF2220.9670022371364759178829999988-29999997, 30000010, 30000018-30000019, 30000024-30000036, 30000060-30000083, 30000093-30000101
460DRG1220.992753623188418110431795707-31795710, 31796672-31796673, 31796684-31796685
461SLC5A1220.9904761904761919199532495221-32495236, 32495271-32495273
462TRIOBP220.9181459566075581709838109309, 38119459, 38119719-38119726, 38119742-38119784, 38119838-38119862, 38119891-38119921, 38119948-38119991, 38120026-38120078, 38120172-38120185, 38120290, 38120300, 38120319-38120346, 38120426-38120456, 38120477-38120486, 38120529-38120535, 38120673-38120679, 38120848-38120869, 38120965, 38121214, 38121217-38121228, 38121417-38121423, 38121483, 38121584-38121598, 38121607, 38121778-38121782, 38121824-38121847, 38121959, 38121968-38122032, 38122090-38122103, 38122139-38122170, 38122255-38122268, 38122311, 38122338-38122366, 38122401-38122403, 38122415-38122424, 38122434-38122441, 38122457-38122465, 38161774
463PLA2G6220.4683026584867126048938508292-38508310, 38508512-38508568, 38509563-38509590, 38509615-38509642, 38509679-38509693, 38509720-38509750, 38509784-38509824, 38509829-38509869
464PLA2G6220.83436596447749401242138508178-38508180, 38508183-38508188, 38508212-38508241, 38508249-38508259, 38508292-38508310, 38508512-38508568, 38509563-38509590, 38509615-38509642, 38511534-38511542, 38511584-38511638, 38511652-38511688, 38512082-38512096, 38512104-38512150, 38512167-38512178, 38512201-38512209, 38516838-38516844, 38516911, 38519108-38519134
465EP300220.97625948930297172724541513571-41513574, 41521997-41521998, 41523519, 41523546-41523548, 41523565-41523568, 41523655, 41523720-41523744, 41525913, 41525916-41525919, 41527563-41527637, 41545131, 41546106-41546133, 41566548-41566556, 41574189, 41574201, 41574205-41574216
466TNFRSF13C220.8180180180180210155542322177-42322190, 42322198, 42322215-42322219, 42322239-42322295, 42322306-42322323, 42322680-42322684, 42322692
467CYB5R3220.984547461368651490643045308-43045321
468ATXN10220.9509803921568670142846067944-46068010, 46068047-46068048, 46068052
469MLC1220.91181657848325100113450502467-50502494, 50502558-50502569, 50502589-50502627, 50506925-50506940, 50506951, 50508965-50508968
470TYMP220.9323671497584598144950964199-50964204, 50964243, 50964334-50964347, 50964430-50964435, 50964450, 50964462, 50964479-50964519, 50964528-50964553, 50964831-50964832
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721ZNF711X0.9881889763779527228684510427-84510433, 84519324-84519336, 84519401-84519407
722TIMM8AX0.972789115646268294100601579-100601585, 100601647
723PRPS1X0.9864158829676113957106871913-106871925
724ACSL4X0.98923220973783232136108906495-108906506, 108921276-108921279, 108926646-108926652
725AGTR2X0.9926739926739981092115303701-115303703, 115304389-115304393
726UPF3BX0.98829201101928171452118975056-118975062, 118979221-118979230
727PHF6X0.9918032786885291098133551257-133551258, 133551292-133551298
728SLC9A6X0.99335232668566142106135067697-135067704, 135067836-135067841
729ZIC3X0.998575498575521404136651082, 136651085
730SOX3X0.9970171513795741341139585996-139585999
731AFF2X0.9977134146341593936147582633-147582641
732SLC6A8X0.921383647798741501908152954050-152954051, 152954061-152954064, 152954078-152954134, 152954156-152954203, 152954216-152954247, 152958520-152958526
733ABCD1X0.9745308310992572238152991430-152991432, 152991577-152991581, 153001799-153001810, 153008675-153008678, 153008788, 153009017, 153009027, 153009030, 153009132-153009155, 153009185-153009189
734MECP2X0.99331997327989101497153363107-153363116
735OPN1MWX0.9926940639269481095153448179, 153453450-153453456
736OPN1MWX0.9926940639269481095153485297, 153490568-153490574
737USP9YY0.9985654668753311766814898236-14898239, 14898576-14898581, 14971230
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
6APOE-L46Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
6APOE-C130Rhomozygous0.135Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
2SP110-M579Ihet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G126Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HABP2-E393Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.045 (benign), Testable gene in GeneTests
2HABP2-G534Ehet unknown0.028Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
2TGM5-G113Chet unknown0.003Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
2TGM5-T109Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2DYNC2H1-D3015Ghet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests
2DYNC2H1-A3687Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HNF1A-I27Lhomozygous0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2HNF1A-S487Nhomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2HNF1A-R583Qhet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5PDE11A-S921SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5PDE11A-R307*het unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1.5PDE11A-R184Qhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CHRNA5-D398Nhomozygous0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1.5KRT5-G138Ehet unknown0.052Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125ATP6V0A4-M580Thet unknown0.098Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125PRODH-R431Hhet unknown0.080Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1SCARF2-A832Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-A814Ghet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P656Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-P174Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ATG9B-A790Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-C1708Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-V2786Ihomozygous0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
1LIG4-A3Vhet unknown0.036Dominant
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ARSA-R496Hhet unknown0.055Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-N350Shet unknown0.183Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1C12orf44-D85ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-W458ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CELA1-L210Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1CELA1-M59Vhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EGFR-R521Khomozygous0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1KCP-D621Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF204P-K6ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RSPH4A-T149Shomozygous0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
1RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SDHA-S45LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1POLG-Q1236Hhet unknown0.058Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1MAGEB6-R98Hhomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.766 (possibly damaging)
1MAGEB6-A100Vhomozygous0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign)
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM58A-R109HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1MST1P9-A301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MST1P9-A271ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MAGEE2-E120*homozygous0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1OPHN1-V39Ihomozygous0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
1DPYD-S534Nhet unknown0.016Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADA-D8Nhet unknown0.030Dominant
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CDC42BPG-Q1135Rhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1CDC42BPG-A1048Thomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.933 (probably damaging)
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RHBG-P424ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-H632Qhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-R265Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-S303Rhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.45 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625SLC6A5-W728*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.625LAMB3-Q894*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.625LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.625CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625CPT2-W374*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.625CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-R95Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging)
0.5GPR179-K1150Ehet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR179-R884Whet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRT33B-E85Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5KCNJ12-R43Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.5KCNJ12-I100Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-E139Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5KCNJ12-T142Nhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.722 (possibly damaging)
0.5KCNJ12-G145Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-A185Vhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5KCNJ12-E239Khet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-E289Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T290Mhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-S343Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.041 (benign)
0.5KCNJ12-S371Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KCNJ12-E378Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.314 (possibly damaging)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5MYO15A-A595Thet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-AP646GAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-Y2682Fhomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC7A6OS-Y220Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SLC7A6OS-G45Dhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RAI1-Q291QQQQQQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG7-T605Mhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SEPT1-G80Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5WDR90-R1600Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APH1B-F217Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5NR2E3-E140Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-M163Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOD2-L1007Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNB1-E32Ghomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahomozygous0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027336-P160Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-V73Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-W23*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KIAA0513-R100Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CYBA-Y72Hhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCA-T266Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5INSR-H1108Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5INSR-M1106Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGA2B-I874Shomozygous0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-T680Ihet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.354 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ALK-V476Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AX746649-W43*het unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5WDR8-I331Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-C413Fhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-M361Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NBEAL1-I2330Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBEAL1-T2492Ahet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-L21500Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P10000Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I4532Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC25A12-R473Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC74B-P201Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CCDC74B-H149Rhomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ST6GALNAC1-I424Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.221 (possibly damaging)
0.5ST6GALNAC1-V80Ahet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNGR2-F111Lhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-A28Dhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.5ITGB4-L1779Phomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPEPPS-M241Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NPEPPS-T475Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPN3-R170Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5EPN3-P544Thomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF516-V1031Shifthomozygous0.946Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5ZNF516-G239Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CPAMD8-Q1890Rhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-T1315Ihomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-H593Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-D586Ehet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V369Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-V355Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-R341Qhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.814 (possibly damaging)
0.5CPAMD8-R341Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPAMD8-M312Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM59L-R204Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LIPE-R611Chet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5TGFB1-P10Lhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E992Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E917Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-R62Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-N413Shet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TYK2-P1104Ahet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5TYK2-V362Fhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-L462Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PITRM1-Q1037Rhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-L883Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PITRM1-F618Lhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PITRM1-A397Vhet unknown0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-I328Vhet unknown0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-L145Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PITRM1-Q8Rhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PITRM1-R3Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2964Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-R1497Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-S103Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRELP-N348Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LAX1-P396Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5TRAF3IP3-R92Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5TRAF3IP3-Q353Ehomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ARHGAP22-T410Khet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CALHM1-L86Phomozygous0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G436Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANK1-P12Lhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5FANK1-C343Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging)
0.5MRVI1-P186Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MRVI1-A70Thomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MRVI1-I11Vhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-T336Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-R1575Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5CHAT-A120Thomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE6C-S270Thomozygous0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TOE1-R341Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAAH-P129Thomozygous0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM151A-A416Vhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAM151A-P335Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP7D1-P37Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAP7D1-Q83Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TARDBP-M311Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TARDBP-S332Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-A439Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CROCC-P511Shet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.94 (probably damaging)
0.5CROCC-D586Hhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CROCC-R1030Whet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CROCC-LE1031QKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5EPB41-V214Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5FUCA1-Q286Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FUCA1-P10Rhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5LRRIQ3-A558Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5LRRIQ3-E434Khet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5LRRIQ3-A255Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRIQ3-M129Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.819 (possibly damaging)
0.5OVGP1-E676Qhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5F5-Q534Rhet unknown0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO3-E158Khomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-L159Vhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPA33-V119Fhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5GPA33-D20Nhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-A150Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-ND153SNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-E194Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-G447Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5HSPA6-S464Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-R471Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANXA9-M1Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ANXA9-D166Ghet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5TTC24-Q102Shifthet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5USP21-P91Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging)
0.5CD244-G287Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZBED5-I480Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.494 (possibly damaging)
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUPL1-A34Thet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUPL1-S166Phet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.514 (possibly damaging)
0.5CSNK1A1L-R170Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CSNK1A1L-D42Ehomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC3A-T1017Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UGGT2-H1381Rhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UGGT2-M994Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.903 (probably damaging)
0.5UGGT2-A821Thomozygous0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.042 (benign)
0.5UGGT2-S328Ahomozygous0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGGT2-A323Thomozygous0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PABPC3-R89Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PABPC3-D90Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-G97Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-V103Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-H144Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-T147Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-H148Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-Q172Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-E178Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PABPC3-A181Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.5PABPC3-P191Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-I195Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5PABPC3-L218Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-K254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-R287Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-Q292*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PABPC3-V293Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-M326Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-V365Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-V484Mhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R487Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.513 (possibly damaging)
0.5PABPC3-V512Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA0748-R19Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ITGA7-R279Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRP1-E1490Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LRP1-Q2900Phomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP1-D4193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GPR109A-I156Vhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging)
0.5GPR109A-R142Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACAD10-A911Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AVEN-E243Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTBK2-L8Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-S1040Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5MLH3-P844Lhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-P52Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESRRB-P386Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.069 (benign), Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-P813Lhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5MS4A5-G51Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-C2806Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK-V2804Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK-I2795Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK-G2527Dhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5AHNAK-V1274Ahet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5YIF1A-P37Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5AGBL2-M671Ihet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGBL2-L480Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5AGBL2-R349Hhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDHX-R24Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.055 (benign), Testable gene in GeneTests
0.5PDHX-T101Ahet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.381 (possibly damaging), Testable gene in GeneTests
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MADD-R766*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RIN1-R238Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5RIN1-A79Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5CPT1A-A275Thet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-G2705Rhet unknown0.046Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-F2561Yhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5IL10RA-R351Ghomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL10RA-S420Lhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5FXYD2-E68Ghet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FXYD2-A67Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-V1956Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TMEM123-V86Fhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALKBH8-D653Yhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HSD17B14-R130Whet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5IDUA-H33Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLT4-R1146Hhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5BTN2A2-G203Shet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5BTN2A2-A336Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5ZFP57-D368Vhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NSD1-M2250Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2261Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-A2546Thet unknown0.025Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.458 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PCDHB10-D446Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PCDHB10-L660Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB10-L705Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GABRG2-G235Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MICA-L145Vhomozygous0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G198Shomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T204Rhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-I236Thomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhomozygous0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthomozygous0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX6-P939Qhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UHRF1BP1-Q454Rhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UHRF1BP1-H821Yhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5UHRF1BP1-Q984Hhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5UHRF1BP1-I1333Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CFB-R534Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFB-R534Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2597Qhomozygous0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2495Shomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhomozygous0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-E1905Khet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-S921Ahomozygous0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R650Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R511Hhomozygous0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V203Mhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q253Hhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D167Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhomozygous0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y48Fhomozygous0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R64Khet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R70Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-S75Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-GG78SRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M99Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDHB16-R202Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PCDHB16-V347Lhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-T482Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PCDHB16-A508Thet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-R525Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-E526Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-R652Chet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AASDH-A705Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AASDH-K368Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5AASDH-P93Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5AASDH-I61Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5PKD2-R28Phet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP10D-N720Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATP10D-V1240Ihet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLBP-R69Chet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5DOK7-G461Dhomozygous0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5BST1-R145Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V3094Ihet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5WDR36-I264Vhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-T173Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-I207Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.119 (benign), Testable gene in GeneTests
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR3-L14Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TLR3-L412Fhomozygous0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TERT-A1062Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-L1235Phet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5RECQL4-R1005Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-E237Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5AK094577-C82Shifthet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL6-L386Phet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GSDMC-M475Thet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-P23Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ZC3H3-R578Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZC3H3-S452Ghomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZC3H3-I6Mhomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FKTN-R203Qhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC16A2-S107Phomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I830Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSN-R481Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.505 (possibly damaging), Testable gene in GeneTests
0.5ARRDC1-N287Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ARRDC1-R294Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ARRDC1-G363Chet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.177 (benign)
0.5ENTPD2-A103Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MACC1-R804Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5MACC1-A151Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MACC1-L78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-H1166Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V2525Ihet unknownRecessive
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5PMS2-R563Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehet unknown0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-K413Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PARK2-D394Nhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5DSE-T25Ihomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5DSE-P34Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5HIVEP2-L1538Phomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HIVEP2-Y1242Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5AKAP12-K117Ehet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-K216Qhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-S887Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5AKAP12-P1183Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.558 (possibly damaging)
0.5AKAP12-E1531EEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKAP12-E1600Dhet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNE1-G8323Ahomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A8168Shet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDC-R462Qhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HR-Q528Rhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-C397Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5NKX3-1-R52Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.788 (possibly damaging)
0.5GGH-T151Ihet unknown0.083Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.846 (possibly damaging)
0.5GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRKDC-L1243Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRKDC-M333Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5OR2F1-R122Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5OR2F1-H137Rhomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.179 (benign)
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K2484Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A1353Vhomozygous0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-G1394Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-K1423Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PER2-V903Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG12-I393Vhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CSRP2BP-V400Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CSRP2BP-P600Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CAPN7-A128Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GNRH2-A16Vhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5GNRH2-S116Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ERC2-N542Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.212 (possibly damaging)
0.5RNF123-R387Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEFB128-H62Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB128-K27Nhomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-L238Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC22A14-V284Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-S292Ghomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-P560Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC23B-V426Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhomozygous0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A3-P296Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5KCNQ2-N780Thomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5UMODL1-V173Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5UMODL1-M559Thomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UMODL1-T741Phet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-I767Thomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-T800Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UMODL1-T826Phomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-V978Ihet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-G1196Shet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-D1336Nhomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GGT1-A57Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GGT1-R107Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF335-P655Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5ZNF335-S294Thomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYCP2-N1024Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIGLEC1-A974Vhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5SIGLEC1-H919Phet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC1-R464Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SIGLEC1-K239Rhet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SIGLEC1-V221Mhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-D1734Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CXCR2-R248Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-R1215Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375DPAGT1-C42Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375KRT14-V452Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375DSC2-T721Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FMO2-D71DDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375FMO2-F81Shet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-V113Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-N413Khet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375BBS12-C225Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HMCN1-N1529Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.375HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.375ANK2-P2835Shet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ANK2-E3016Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CFTR-L454Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MUT-R588Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NCF2-H389Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NOTCH2-L304Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375AIPL1-R302Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25NACAD-A993*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NACAD-L105Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TH-V108Mhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-P407Lhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCERG1L-G322Ehet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25TCERG1L-A101Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC3A-M6Ahet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-I10Shet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T75Khet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-V77Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-V82Fhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T98Ihet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S157Ahet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-Y168Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC3A-G182Ahet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-A190Shet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S196Phet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T270Shet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T279Ahet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-Y281Hhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-M288Thet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S296Ihet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S329Nhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-L334Thet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T370Ahet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-P376Shet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S388Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC3A-R393Phet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-A573Vhet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-E602Ahet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-A655Thet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC3A-H752Yhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDHR3-Y440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDHR3-C529Yhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDHR3-T532Shet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.035 (benign)
0.25NUDT13-R70Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NUDT13-G81Dhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.016 (benign)
0.25AK094914-W154*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK094914-V3Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EMILIN1-Q149Rhomozygous0.975Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EMILIN1-L452Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTBP2-Q539Ehet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTBP2-Y455Hhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTBP2-Q175Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NSUN5-Y296Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NSUN5-S292Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EIF4H-M180Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EIF4H-E248Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-M409Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP8-D344Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TBX10-K101Thet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.964 (probably damaging)
0.25TBX10-K58Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CEBPZ-D477Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CEBPZ-V102Ihet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF544-P435Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF544-Q700Rhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM20C-I320Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM20C-N564Dhomozygous0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STK17B-N277Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25STK17B-R5Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC22A2-S270Ahet unknown0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-V159Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PANK2-G126Ahet unknown0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPT-H14Nhet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AGXT-I340Mhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANKMY1-E776Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKMY1-V472Lhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TTC39B-I354Vhomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TTC39B-L77*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDK5RAP2-E289Qhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C9orf117-Y457Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C9orf117-Y483ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP11B2-K173Rhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIB3-Q84Rhet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AX746496-W113*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AX746496-E46Ghomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HBXIP-V146Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HBXIP-S17Nhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25COL11A1-S1547Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HRNR-G193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HRNR-H187Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA10-A81Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ITGA10-I249Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HEATR1-E2017Ghet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.25HEATR1-N1967Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.25HEATR1-V1854Ahet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-N1694Shomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-S1559Nhet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-A1430Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEATR1-M607Vhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.25HEATR1-G570Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEATR1-H348Rhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25SARDH-M648Vhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EVI5-S776Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EVI5-Q612Hhomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25EVI5-I336Vhomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.25USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR25-L204Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR25-T210Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ANKRD36-K5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKRD36-P1126Qhomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD36-W1280Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25ATP6V1B1-M1Thet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP6V1B1-K476Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF169-A18Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF169-A17Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25CDKN2AIP-A235Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDKN2AIP-A242DelhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF589-T12Ahet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF589-T216Rhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.831 (possibly damaging)
0.25ZNF589-R311*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLYR1-H459Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLYR1-R381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AP3B1-V585Ehet unknown0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C19orf26-R402Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C19orf26-H365RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-E825Dhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRWD1-L1699Phomozygous0.946Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BRWD1-D1695Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BRWD1-S1511Phomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.25BRWD1-S1506Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BRWD1-Q83Ehet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.503 (possibly damaging)
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD226-L262Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TNFRSF11A-L11Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TNFRSF11A-A192Vhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EGF-M708Ihet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EGF-E920Vhet unknown0.851Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EGF-V1179Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-R444Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RNF43-L418Mhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-P231Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.25RNF43-I47Vhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TNFRSF13B-P251Lhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BCHE-A567Thet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BCHE-D98Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARHGAP23-A297Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARHGAP23-D594Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARHGAP23-E641*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KRT10-SSGGGH482YGGGSShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-R80Thet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25SLC16A6-F204Ihomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC16A6-L99Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1665Yhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-D1632Ghet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K1575*het unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-N1330DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1268Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G832Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-G785Chet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R636Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-E221Ghet unknown0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25DNAI2-V495Ihet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI2-A558Thet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF469-S357Phomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF469-DGLGST389EAVGSWhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF469-K1162Ehomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.25ZNF469-G2358Rhet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.25ZNF469-L2670Qhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF469-H2848Rhomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF469-R3417Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF469-E3630Qhet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.08 (benign)
0.25ZNF469-T3636Ahomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPD-T33Ahet unknown0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-A245Thet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-G88Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF85-K170Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF85-K175Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF85-WS213RFhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ANKRD27-Y816Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKRD27-S657Ghet unknown0.551Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.11 (benign)
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25GLI1-C275Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLI1-G933Dhomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.916 (probably damaging)
0.25GLI1-E1100Qhomozygous0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-S2802Ghet unknown0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.25SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIPA1L3-A288VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIPA1L3-I780Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HLA-DRB5-Y107*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25HLA-DRB5-T106Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-DRB5-A103Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-DRB5-A103Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-DRB5-DR99QKhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-T67Rhet unknown0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRTAP10-5-C88Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRTAP10-5-D20Nhomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FCGBP-A5017Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25FCGBP-D4906Hhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.25FCGBP-T4043Nhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.25FCGBP-H3668Rhet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FCGBP-K422Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-L643Fhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IRS2-G1057Dhet unknown0.233Unknown
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).
0.25DSP-R1537Chet unknown0.010Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25KIAA1543-K168*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KIAA1543-S1058Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGFR4-V10Ihet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMPRSS6-A709Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMPRSS6-K253Ehet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MIPEP-S488Ghomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MIPEP-Y360Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1668Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests
0.25FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0BCKDHA-R40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HPS1-M325Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0BSCL2-I326Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0SIAE-M89Vhet unknown0.040Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0ITPA-P32Thet unknown0.061Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0CLEC7A-Y238*het unknown0.063Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0SERPINA1-E288Vhet unknown0.030Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,724,589,869 bases (95.3% of callable positions, 88.4% of total positions)

Coding region coverage: 32,092,369 bases (96.4% of all genes, 97.4% of genes with clinical testing available)

Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY

Gene search

"GENE" or "GENE A123C":

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