huFF6AB4 - GET-Evidence variant report

Variant report for huFF6AB4

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1ABCA4-G1961EHighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00269567This rare variant causes Stargardt Disease in a recessive manner. It was hypothesized to increase susceptibility to age-related macular degeneration, but subsequent studies have contradicted this hypothesis.1
2KCNV2-K3ShiftModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
Reported in ClinVar to cause retinal cone dystrophy in a recessive manner: http://www.ncbi.nlm.nih.gov/clinvar/RCV000033031.3/1
3COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
4MBL2-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
5MBL2-R52CLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.048615This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).1
6AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
7MTRR-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
8TNFRSF13B-C104RLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00399703Hypothesized to cause common variable immunodeficiency (CVID) in a dominant manner, but observations lack statistical significance and the frequency of people having this variant (0.8%) is much higher than the prevalence of the disease (0.002%). If this variant is associated with increased risk, carriers of this variant must still have an extremely low chance of developing CVID. Other genetic factors may be necessary.1
9GLI3-G727RLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00548429Reported to cause postaxial polydactyly in a dominant manner. However it was only observed in one family, another linked variant in the region may have been causal. Data in the exome variant server shows 1 in 100 carry this variant, contracting the polydactyly effect -- if that hypothesis were true, this variant is common enough that it would account for a large fraction of cases (i.e. many other publications would exist confirming the hypothesis). Other variants in this gene cause Pallister-Hall syndrome, which causes many traits including polydactyly and hypothalamic hamartoma (a congenital brain malformation that can cause seizures).1
10RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
11ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Homozygous
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
12TGIF1-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
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
14BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
15H6PD-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
16ABCC6-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
17PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
18NPC1-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
19MTR-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
20NEFL-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
21MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
22FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
23APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
24ENPP1-R774CLowUncertainUncertain benign

Unknown, Heterozygous
0.0258412Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect.1
25AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
26ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
27FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
28TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
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
29PPOX-P256RLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.00725177This variant has 0.7% allele frequency in HapMap and occurs in a heme biosynthesis gene. Other variants in this gene are implicated in causing porphyria in a recessive manner, but this variant is considered a polymorphism and retains normal function in a eukaryotic expression system.1
30PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
31ABCA4-R943QLowUncertainUncertain benign

Unknown, Heterozygous
0.0316044This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.1
32SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
33GFAP-D295NLowUncertainUncertain benign

Unknown, Heterozygous
0.0333767Reported as a nonpathogenic polymorphism.1
34PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30737115 / 33212919 = 92.55%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.08813945910720155976138955553-955753, 957581-957582, 957592-957651, 957660-957842, 970657-970704, 976045-976260, 976553-976777, 976858-976918, 976930-976989, 976996-977013, 977036-977082, 977336-977395, 977412-977542, 978619-978627, 978637-978837, 978918-979112, 979203-979268, 979274-979323, 979332-979389, 979395-979403, 979489-979552, 979557, 979567-979637, 979714-979746, 979765-979792, 979809, 979813, 979815-979819, 980541-980542, 980545-980548, 980552, 980584, 980590-980628, 980634-980657, 980741-980782, 980815-980870, 980873, 980889-980903, 981113-981177, 981183-981241, 981253-981256, 981344-981460, 981540-981645, 981777-982100, 982115, 982200-982337, 982707-982756, 982780-982834, 982956-983061, 983156-983275, 983392-983463, 983474-983745, 984247-984439, 984616-984831, 984946-984966, 984972-985018, 985036-985175, 985283-985349, 985357-985400, 985412-985417, 985613-985709, 985807-985832, 985840, 985845, 985853-985900, 985909-985912, 985917-985943, 985956-985959, 986108-986217, 986633-986749, 986833-986975, 986984-987025, 987108-987142, 987148-987195, 989133-989166, 989174-989233, 989241-989266, 989281-989311, 989321, 989326, 989335-989357, 989828-989857, 989896-989911, 989914-989915, 990204-990361
2GABRD10.3914643119941182713591950863-1950930, 1956381-1956382, 1956389-1956395, 1956421-1956458, 1956473-1956478, 1956810-1956812, 1956985-1957009, 1957037-1957083, 1957093-1957099, 1957125-1957142, 1957148-1957149, 1957159-1957165, 1957171-1957175, 1959027-1959069, 1959602-1959641, 1959679-1959680, 1959691-1959699, 1960550-1960594, 1960603-1960604, 1960634-1960636, 1960647-1960651, 1960656-1960705, 1960997-1961099, 1961122-1961152, 1961157-1961158, 1961167-1961201, 1961422-1961464, 1961470-1961500, 1961513-1961580, 1961593-1961603, 1961606-1961607, 1961634-1961679, 1961701-1961721
3PEX1010.589194699286444039812337222-2337237, 2337268-2337270, 2337923-2337975, 2337991, 2337999, 2338047, 2338159-2338190, 2338200, 2338204-2338209, 2338212, 2338215-2338232, 2338246-2338279, 2338312-2338328, 2339907, 2339927-2339938, 2339942, 2339990-2339994, 2340003-2340012, 2340018, 2340022-2340051, 2340132, 2340157-2340186, 2340194-2340220, 2343830-2343884, 2343890-2343933, 2343940-2343941
4NPHP410.8586778790002360542815923388-5923396, 5923969-5924005, 5924456, 5924460, 5924567-5924577, 5925202-5925233, 5925265, 5926507, 5927090-5927107, 5934547, 5934559-5934562, 5934572, 5934679, 5934710-5934717, 5935015-5935071, 5935099-5935118, 5935127-5935160, 5947395-5947435, 5947451-5947456, 5947478-5947506, 5950939-5950948, 6012785, 6012788, 6021890-6021925, 6027368-6027374, 6027391, 6027403-6027408, 6029147-6029164, 6029200-6029204, 6029280-6029288, 6038330-6038473, 6046220-6046247, 6046253, 6046261-6046265, 6046298-6046317
5ESPN10.58869395711501105525656485016-6485071, 6485078-6485084, 6485090-6485309, 6488298-6488337, 6488372-6488392, 6488426-6488457, 6488463-6488479, 6500355-6500356, 6500382-6500429, 6500448-6500490, 6500699-6500730, 6500753, 6500773-6500809, 6500829-6500868, 6500994-6501035, 6501059-6501065, 6501097-6501106, 6504621-6504648, 6504739, 6505732-6505766, 6505776-6505798, 6505843-6505862, 6505878-6505899, 6505902, 6505917, 6508701-6508733, 6508760-6508766, 6508831, 6508845, 6508854, 6508864, 6508882-6508890, 6508922-6508928, 6508976-6508988, 6509017-6509060, 6509100-6509106, 6509139-6509151, 6511664, 6511751-6511784, 6511907-6511934, 6511982, 6511997, 6512079-6512081, 6512105-6512109, 6512124-6512156, 6517316-6517323, 6520073-6520090
6PLEKHG510.6883035434305499431896527889-6527910, 6527932-6527951, 6528029-6528030, 6528042, 6528046, 6528075-6528098, 6528117-6528120, 6528173, 6528178, 6528183, 6528191, 6528254, 6528278-6528326, 6528456, 6528463, 6528473, 6528499, 6528507, 6528530-6528536, 6529131, 6529198-6529210, 6529225, 6529228-6529231, 6529234-6529243, 6529255-6529286, 6529432-6529460, 6529481-6529483, 6529494-6529510, 6529606-6529626, 6529686, 6529705-6529736, 6530324, 6530345-6530355, 6530392, 6530570, 6530589-6530590, 6530795-6530805, 6530821-6530858, 6530920-6530944, 6531079-6531099, 6531141-6531160, 6531580-6531584, 6531599-6531628, 6531653-6531689, 6531830-6531853, 6532612-6532613, 6532625-6532673, 6533121-6533144, 6533224, 6533330, 6533337, 6533409-6533419, 6534073-6534074, 6534106-6534109, 6534116-6534124, 6534174-6534183, 6534519-6534522, 6534531-6534573, 6534579, 6534588, 6534630-6534647, 6535107-6535198, 6535529-6535531, 6535539-6535551, 6535555-6535558, 6535582, 6535997-6536049, 6537653-6537657, 6537673-6537702, 6556553-6556629, 6557380-6557383
7KIF1B10.9971767363071715531310316373-10316379, 10327613-10327616, 10402126-10402129
8PEX1410.69400352733686347113410535024-10535059, 10678450, 10683127-10683141, 10684415-10684494, 10687329-10687338, 10687368-10687407, 10689588, 10689658-10689668, 10689684-10689732, 10689743-10689770, 10689793-10689811, 10689867-10689874, 10689893, 10689966-10689974, 10689991-10690021, 10690037-10690044
9TARDBP10.9437751004016170124511082322-11082362, 11082431-11082437, 11082584-11082605
10MASP210.58272683163513860206111087050-11087056, 11090815, 11094900, 11094928-11094929, 11094963, 11097750-11097804, 11097832-11097845, 11097865-11097868, 11102932-11103079, 11103396-11103398, 11103407-11103592, 11105465-11105596, 11106615-11106643, 11106655-11106719, 11106732, 11106741-11106790, 11106952-11107020, 11107036-11107043, 11107067, 11107079, 11107083-11107102, 11107120-11107176, 11107260-11107264
11MTHFR10.79756468797565399197111850816-11850818, 11851352, 11853964-11853976, 11853983-11853987, 11854002, 11854008-11854012, 11854038-11854047, 11854078-11854085, 11854092-11854118, 11854506, 11854509, 11854514-11854559, 11854593, 11854792, 11854833-11854876, 11855169, 11855235-11855241, 11855368-11855380, 11855398, 11856299, 11856324-11856348, 11856393-11856414, 11860275, 11860297, 11861247-11861286, 11861296-11861326, 11861353-11861376, 11861390, 11861403-11861419, 11862950-11862951, 11863053, 11863080-11863122, 11863131
12PLOD110.9652014652014776218412008034, 12008039-12008042, 12023633-12023646, 12023675-12023693, 12024726, 12024756, 12024767-12024776, 12025631, 12025634, 12026309, 12026312-12026322, 12027089-12027091, 12030757, 12030767-12030772, 12030855, 12030868
13MFN210.9938434476693114227412049328-12049336, 12062042, 12067303-12067306
14CLCNKA10.73449612403101548206416349140, 16349193-16349194, 16353045-16353054, 16353837, 16353849, 16353854-16353855, 16355269-16355309, 16355670-16355677, 16355723-16355748, 16356238-16356257, 16356460-16356488, 16356518-16356570, 16356965-16357000, 16357023-16357045, 16357058-16357160, 16357168-16357169, 16358205-16358222, 16358238-16358293, 16358336-16358338, 16358698, 16358719-16358738, 16358744, 16358749, 16358756-16358765, 16358767-16358769, 16358780-16358786, 16358938-16358957, 16359665-16359688, 16360108, 16360129-16360153
15CLCNKB10.77955426356589455206416370988-16370995, 16371085-16371087, 16372071-16372075, 16372083, 16372112-16372149, 16373124, 16373130, 16373134, 16373154-16373158, 16374840-16374847, 16375058, 16375063-16375064, 16375631, 16375648, 16375659, 16376395, 16376399, 16377019-16377046, 16377389, 16377477-16377494, 16377510, 16377531, 16377538, 16377977-16377979, 16377999-16378000, 16378015-16378021, 16378040-16378042, 16378205-16378216, 16378247-16378248, 16378254-16378287, 16378311-16378315, 16378693-16378756, 16378762-16378817, 16378829-16378906, 16380145, 16380151, 16380177, 16380207, 16380214-16380215, 16380222-16380228, 16380243, 16380252, 16380260, 16381947, 16381951-16381952, 16381963, 16381997, 16382002, 16382174-16382187, 16382234-16382235, 16382930-16382936, 16383364-16383371, 16383392-16383398
16ATP13A210.95512277730737159354317312799, 17313122-17313127, 17313568, 17313586-17313624, 17313651, 17313728, 17314637-17314643, 17314823, 17314826, 17314840, 17314910, 17314913, 17314919, 17316413, 17319004, 17320270, 17320281, 17322490, 17322495-17322496, 17322504-17322509, 17322572-17322606, 17322631-17322659, 17322790, 17322793, 17322918-17322921, 17322932, 17322935, 17323597, 17323604, 17323614-17323620, 17331959, 17331962, 17338232
17ALDH4A110.9651300236406659169219199352-19199358, 19203938-19203944, 19203980-19203991, 19208198-19208204, 19208210, 19208216, 19208321-19208342, 19209887-19209888
18PINK110.998854524627722174620960114, 20960242
19HSPG210.96706132361874341317622149810, 22149814, 22149822-22149827, 22149886-22149909, 22149935, 22149968-22149981, 22150123-22150136, 22150614-22150615, 22150624, 22150838-22150862, 22151031-22151036, 22151042, 22151226-22151256, 22154405-22154412, 22154585, 22154638-22154639, 22154642-22154645, 22154748-22154750, 22154800-22154802, 22154910-22154919, 22155384-22155400, 22155452-22155453, 22155557-22155572, 22155950-22155956, 22156019-22156020, 22156095-22156097, 22157483-22157485, 22157523, 22165409-22165417, 22168135-22168137, 22168505-22168539, 22168832-22168842, 22169919-22169924, 22172629-22172634, 22173049-22173052, 22173927-22173934, 22175164-22175168, 22175174, 22175416, 22175478-22175481, 22176902-22176903, 22176906-22176907, 22178095, 22178098, 22178328-22178330, 22178384-22178386, 22181423, 22186067-22186070, 22186394-22186398, 22186403-22186408, 22186708-22186723, 22192215-22192221, 22198706, 22198828-22198829, 22199527-22199533, 22206998-22207004, 22214024, 22263648-22263710
20WNT410.89583333333333110105622446612-22446622, 22446774, 22456132-22456133, 22456140, 22456179-22456196, 22469339-22469415
21RPL1110.957169459962762353724019156-24019161, 24019175-24019179, 24019223-24019225, 24019231, 24019249, 24020350-24020355, 24020360
22GALE10.995224450811845104724122663-24122664, 24125492-24125494
23HMGCL10.966257668711663397824134769-24134783, 24137241-24137243, 24137288, 24151892-24151905
24FUCA110.82726623840114242140124172248-24172254, 24175283, 24180868, 24180977-24180984, 24186288, 24186358-24186393, 24192007, 24194406, 24194421, 24194445-24194494, 24194590, 24194623-24194686, 24194694-24194704, 24194711-24194769
25LDLRAP110.99460625674218592725870231, 25870234-25870237
26SEPN110.88489208633094192166826126722-26126904, 26138302, 26139187-26139194
27YARS10.9924385633270312158733245741-33245747, 33248133-33248134, 33256830, 33256847, 33282824
28COL9A210.999033816425122207040769250-40769251
29KCNQ410.84147509578544331208841249766-41249786, 41249804-41249891, 41249902-41249974, 41249995-41250070, 41283895-41283901, 41284200-41284206, 41284245-41284251, 41284270-41284302, 41285040, 41285570, 41288051, 41288056, 41296879-41296881, 41300703-41300714
30CLDN1910.977777777777781567543201555-43201560, 43201569, 43201573-43201574, 43201577-43201580, 43201597, 43203960
31LEPRE110.9651741293532377221143212381, 43212398-43212415, 43212431, 43212944-43212960, 43213037-43213044, 43213057, 43215935-43215959, 43232366, 43232369, 43232465-43232468
32EIF2B310.997056659308314135945392318-45392321
33UROD10.99456521739136110445479458-45479463
34MUTYH10.99426386233279156945798307-45798308, 45798312-45798314, 45798821, 45798825, 45799235-45799236
35MMACHC10.99293286219081684945973985, 45974829-45974833
36POMGNT110.9889056984367122198346661532-46661541, 46662711-46662722
37STIL10.9891388673390242386747746537, 47746567, 47748037, 47748093-47748131
38DHCR2410.9890393294648617155155340840-55340844, 55352591-55352602
39BSND10.982346832814121796355464860-55464876
40PCSK910.93795093795094129207955505552-55505558, 55512222-55512245, 55521666-55521696, 55521710-55521746, 55521774-55521786, 55521840-55521853, 55523119-55523121
41LEPR10.997998856489427349866036454-66036457, 66058405, 66058408, 66083746
42CTH10.995073891625626121870897830-70897835
43ACADM10.998435054773082127876228426, 76228445
44RPL510.99328859060403689493300438-93300443
45DPYD10.99967511371021307898187211
46AGL10.9989128071319954599100357243, 100387204-100387207
47DBT10.9993098688750911449100706355
48COL11A110.99505222649808275457103364246-103364272
49GSTM110.26940639269406480657110230496-110230531, 110230792-110230808, 110230825, 110230835-110230867, 110231295-110231330, 110231352-110231355, 110231691, 110231705-110231751, 110231847-110231947, 110232893-110232988, 110233076-110233159, 110233166-110233186, 110235893-110235895
50VANGL110.9980952380952431575116227946-116227948
51NOTCH210.984223300970871177416120510061-120510075, 120512239-120512249, 120539668, 120539687, 120539691, 120539711, 120539913-120539939, 120548025, 120548030, 120548055, 120548091-120548097, 120572544-120572575, 120612003-120612020
52HFE210.99141295862607111281145414844-145414846, 145415369-145415371, 145415759-145415762, 145415766
53PRPF310.920077972709551642052150297503-150297506, 150298224, 150305187-150305197, 150307522, 150307561, 150307601-150307640, 150310664-150310667, 150310726, 150310800, 150315785-150315807, 150315813-150315822, 150315852, 150315900-150315926, 150316725-150316733, 150316942, 150317000, 150318537-150318543, 150318595-150318598, 150318925-150318926, 150325375, 150325436-150325449
54FLG10.85877236172657172112186152276406, 152276419-152276425, 152276487-152276493, 152276667-152276683, 152276718, 152276726, 152277054-152277064, 152277104-152277136, 152277241, 152277270, 152277427-152277444, 152277545, 152277612-152277646, 152277798-152277845, 152278046-152278052, 152278399-152278437, 152279322, 152279375-152279409, 152279566-152279567, 152279625-152279658, 152279742-152279743, 152280053-152280059, 152280174-152280204, 152280303, 152280340-152280356, 152280556-152280562, 152280570-152280630, 152280762-152280795, 152280861-152280903, 152281143-152281161, 152281284, 152281289-152281290, 152281307-152281331, 152281489-152281537, 152281546-152281592, 152281643-152281652, 152281745-152281778, 152281836-152281862, 152281872-152281886, 152281936-152281973, 152281988-152282006, 152282059-152282068, 152282102-152282141, 152282161-152282164, 152282236-152282285, 152282295-152282308, 152282370-152282373, 152282380-152282423, 152282442-152282457, 152282491-152282530, 152282553, 152282560-152282562, 152282677, 152282906-152282917, 152283097, 152283117-152283120, 152283146, 152283161-152283179, 152283204-152283247, 152283269-152283280, 152283283-152283284, 152283331-152283354, 152283682, 152283708, 152283875, 152283911-152283940, 152283969-152283975, 152284007-152284029, 152284053, 152284058, 152284078, 152284171-152284217, 152284232-152284266, 152284295-152284337, 152284421-152284453, 152284521-152284552, 152284587-152284609, 152284705, 152284770-152284776, 152284836-152284842, 152284997-152285023, 152285116-152285158, 152285208-152285211, 152285280, 152285286, 152285294-152285295, 152285302, 152285401-152285428, 152285469, 152285472, 152285606, 152285652-152285654, 152285858-152285864, 152286023-152286039, 152286130, 152286165-152286192, 152286318, 152286327, 152286364-152286365, 152286434, 152286438-152286441, 152286453, 152286702-152286732, 152286829-152286832, 152286994-152287044, 152287054-152287060, 152287220, 152287866-152287887
55CHRNB210.97548045062956371509154543804, 154543831, 154543887-154543890, 154543902, 154543939, 154544213-154544216, 154544227-154544228, 154544349-154544352, 154544425-154544435, 154544442, 154544462, 154544465-154544470
56GBA10.9983291562238921197155186655, 155188182
57PKLR10.98898550724638191725155269959, 155269983, 155269987-155269990, 155269994-155270002, 155270005-155270008
58SEMA4A10.9982502187226642286156131163-156131166
59NTRK110.98494353826851362391156830735-156830738, 156830757-156830758, 156830779, 156830783-156830807, 156843455-156843456, 156843461, 156843468
60NDUFS210.99137931034483121392161176361-161176372
61MPZ10.9974259974262777161279694-161279695
62F510.99071161048689626675169510351-169510383, 169510499-169510527
63DARS210.9963880288957771938173794464-173794469, 173806132
64SERPINC110.9942652329749181395173878801-173878805, 173878916-173878918
65RNASEL10.9991015274034122226182555811-182555812
66LAMC210.9988833054159743582183190087-183190090
67HMCN110.998048261178143316908185892532-185892534, 185892704, 185902860-185902875, 185964174-185964178, 185984333, 185984336-185984337, 186037124-186037128
68CFHR110.9073514602215592993196794607-196794632, 196794740-196794768, 196796045, 196797254-196797260, 196797357, 196799637, 196799672, 196799680, 196801002-196801026
69CFHR510.99356725146199111710196963210-196963211, 196971661-196971669
70ASPM10.99961663791451410434197073929-197073932
71CACNA1S10.9994663820704435622201081361-201081362, 201081463
72PKP110.9986244841815732181201282643-201282645
73REN10.99918099918111221204135421
74LAMB310.9988633134413243519209800883, 209800891-209800893
75PSEN210.96733481811433441347227069732, 227069737, 227071430-227071441, 227071445, 227071520-227071529, 227071533, 227071584-227071586, 227071598-227071608, 227076535, 227077739, 227079544-227079545
76ADCK310.786522633744864151944227149111-227149115, 227149191, 227152701-227152727, 227152802-227152812, 227152817, 227152823-227152848, 227152855-227152869, 227152896-227152935, 227152972-227152993, 227153041-227153066, 227153091-227153092, 227153101-227153111, 227153372-227153373, 227153425, 227169728, 227169744-227169798, 227169804-227169810, 227169819, 227169831-227169846, 227170663-227170665, 227170668, 227171310-227171333, 227171462-227171494, 227171521, 227171524, 227171820, 227171881, 227172290, 227172955-227172967, 227173039-227173040, 227174185-227174197, 227174201-227174202, 227174388-227174436
77GJC210.339393939393948721320228345460-228345461, 228345478-228345509, 228345557-228345586, 228345634-228345652, 228345665-228345677, 228345682-228345691, 228345707-228345717, 228345727-228345730, 228345775-228345808, 228345863-228345938, 228345955-228346106, 228346121-228346128, 228346140-228346159, 228346165-228346172, 228346186-228346211, 228346239-228346273, 228346281-228346315, 228346325-228346484, 228346492-228346494, 228346496-228346498, 228346506-228346559, 228346581-228346623, 228346637-228346643, 228346651-228346657, 228346669-228346680, 228346697-228346700, 228346707-228346742, 228346745-228346760, 228346767-228346778
78ACTA110.96384479717813411134229567886, 229567889, 229567922-229567923, 229568126-229568157, 229568794-229568798
79GNPAT10.9975526186979952043231398546, 231411232-231411234, 231411239
80LYST10.994914957040155811406235875404-235875436, 235897916-235897925, 235944278-235944284, 235971925-235971932
81RYR210.997316156736454014904237551441-237551442, 237632461-237632467, 237777755, 237821246-237821250, 237821257-237821272, 237821278-237821281, 237821294, 237821298-237821300, 237841395
82NET1100.99776661083194417915454711-5454714
83GATA3100.99700374531835413358097656, 8100740-8100742
84OPTN100.997116493656295173413151245-13151249
85PHYH100.999016715830881101713337588
86DCLRE1C100.9985569985573207914970033-14970035
87CUBN100.9998160412067721087216982204-16982205
88PTF1A100.8905775075987810898723481460, 23481593-23481594, 23481654-23481671, 23481725-23481734, 23481764-23481788, 23481837, 23481875-23481900, 23481911, 23481916, 23481919, 23481936-23481952, 23482109, 23482191-23482194
89MYO3A100.999793856936711485126442802
90MASTL100.9768676526355761263727447611-27447615, 27450105, 27450108-27450109, 27456129-27456132, 27458984-27459013, 27459051-27459067, 27469990-27469991
91RET100.83976083707025536334543572707-43572776, 43595994, 43596056, 43596059-43596096, 43596111-43596123, 43597925, 43597928-43597946, 43598030-43598062, 43600480, 43600505-43600516, 43600563-43600592, 43601862-43601865, 43604479-43604512, 43604525-43604543, 43604627-43604634, 43604669-43604678, 43606791, 43606794, 43606850-43606861, 43606899-43606908, 43608374-43608382, 43609004-43609019, 43609928-43609929, 43610119, 43610138-43610150, 43610161-43610163, 43610174, 43613857-43613865, 43613905-43613919, 43614988-43615026, 43615036, 43615074-43615076, 43615079-43615091, 43615158-43615193, 43617428-43617430, 43619121, 43619125, 43619128-43619136, 43619139-43619140, 43619159, 43619209-43619245, 43619254-43619256
92ERCC6100.9854975457385165448250691468, 50732429, 50738766-50738781, 50738804, 50740655, 50740670, 50740678, 50740709, 50740767-50740773, 50740800-50740803, 50740807, 50740812-50740816, 50740819, 50740827-50740828, 50740831, 50740838, 50740843-50740856, 50740929, 50740940-50740944
93CHAT100.999554962171781224750822409
94PCDH15100.9937170996773637588955719565-55719566, 55839135-55839169
95NODAL100.990421455938710104472201257, 72201395-72201403
96SLC29A3100.997198879551824142873082591, 73115894, 73122121-73122122
97CDH23100.937052505966596331005673377021, 73377025, 73377032-73377042, 73405624, 73405691, 73406272, 73406281-73406284, 73406328-73406374, 73434922-73434931, 73437269-73437286, 73437305-73437323, 73437373-73437378, 73437410-73437415, 73437428, 73439144, 73439148-73439152, 73439160, 73439166-73439191, 73439202, 73439207, 73439211, 73439216-73439223, 73439234-73439249, 73442218-73442228, 73442242-73442282, 73442307-73442329, 73447404-73447414, 73447460-73447475, 73453982-73453995, 73455178-73455180, 73455189-73455190, 73455282, 73461779-73461801, 73461825, 73461828, 73461836-73461847, 73461854-73461874, 73461933-73461934, 73461956-73461968, 73462354, 73462432-73462451, 73464685, 73464690, 73464723-73464765, 73464774-73464813, 73464823-73464831, 73464841-73464842, 73464869-73464887, 73466780, 73466791, 73466794, 73468914-73468919, 73472520-73472522, 73490270-73490277, 73491920-73491936, 73499459-73499460, 73500653, 73537504-73537523, 73537595-73537597, 73537953, 73537970, 73539040, 73548778, 73550045-73550087, 73550170, 73553318, 73553321, 73556928, 73574908
98PSAP100.9923809523809512157573579543-73579551, 73579563, 73579566, 73594148
99VCL100.999706314243761340575873985
100MAT1A100.994107744107747118882043678-82043684
101LDB3100.85851648351648309218488428449-88428478, 88428536-88428539, 88439907, 88466288-88466305, 88466353-88466362, 88466461-88466476, 88469667, 88469699-88469723, 88469803-88469807, 88476084-88476093, 88476137-88476159, 88476171-88476177, 88476218-88476258, 88476276-88476278, 88476283-88476284, 88476292-88476297, 88476326-88476348, 88476397-88476413, 88476443-88476476, 88476510-88476524, 88477854-88477856, 88478506-88478520
102BMPR1A100.999374609130711159988649973
103GLUD1100.9725700655933246167788854082-88854085, 88854420-88854423, 88854452-88854478, 88854516-88854526
104PTEN100.9867986798679916121289624276-89624291
105LGI1100.998207885304663167495557337-95557339
106PLCE1100.998697351280949690996006362-96006367, 96081814-96081816
107HPS1100.942070275403611222106100177349-100177429, 100177947-100177964, 100178001-100178003, 100182238-100182254, 100185413, 100189593-100189594
108ABCC2100.999568779646424638101590164-101590165
109CPN1100.9985475671750221377101816786, 101816789
110FBXW4100.9959644874899151239103371151-103371155
111HPS6100.96219931271478882328103825439-103825464, 103825751-103825757, 103825778-103825817, 103826237, 103826247-103826255, 103827443-103827447
112SUFU100.97250859106529401455104264089-104264091, 104309845-104309856, 104352372-104352375, 104353429, 104353432, 104356920-104356924, 104356970, 104357001-104357002, 104357009-104357019
113CYP17A1100.867714472822532021527104590551-104590576, 104590640-104590665, 104590675-104590712, 104590740-104590742, 104592345-104592348, 104592353-104592360, 104592383-104592390, 104592416-104592430, 104592792-104592794, 104592799, 104593805-104593821, 104594592-104594604, 104594736-104594757, 104595097-104595109, 104596981, 104596987-104596990
114COL17A1100.9984423676012574494105794393-105794394, 105816893-105816897
115HABP2100.98336304218657281683115341846-115341873
116EMX2100.9591567852437431759119302781-119302797, 119302962-119302967, 119303024-119303031
117BAG3100.98900462962963191728121431792, 121436555, 121436754-121436770
118ARMS2100.9197530864197526324124214281-124214283, 124214486-124214508
119HTRA1100.792099792099793001443124221169-124221245, 124221272-124221379, 124221383-124221394, 124221398-124221416, 124221420-124221447, 124221460-124221463, 124221466, 124221478-124221526, 124221633, 124221636
120OAT100.9992424242424211320126097526
121UROS100.96867167919825798127477437-127477444, 127503631-127503647
122HRAS110.62982456140351211570532636-532685, 532688-532693, 532705-532707, 532710-532727, 533453-533457, 533555-533581, 533766-533774, 533797-533811, 533848-533850, 533854-533857, 533886-533887, 533919-533937, 534212, 534218, 534228-534235, 534242, 534255-534261, 534291-534322
123TALDO1110.838264299802761641014747482, 747485-747522, 747542-747553, 760131, 760134-760136, 763344-763353, 763355, 763357-763358, 763361, 763393-763436, 763460-763467, 763859-763863, 763867, 763873, 764332-764367
124SLC25A22110.27880658436214701972791925-791970, 791997-792021, 792028-792043, 792048-792068, 792142-792166, 792194-792204, 792209-792217, 792304-792384, 792447-792458, 792553-792588, 792594-792727, 792884-792919, 792925-792948, 792957-792988, 793529-793565, 793606, 793615-793619, 794487-794513, 794776-794898
125PNPLA2110.672607260726074961515819719-819748, 819754-819801, 819809-819897, 821659, 821715-821754, 821825, 821839, 822022, 822408-822414, 823536-823554, 823793, 823836, 823848-823855, 823998-824033, 824059-824096, 824120-824121, 824124-824127, 824315-824332, 824337-824338, 824365-824383, 824389-824397, 824409-824430, 824555-824558, 824562, 824570-824590, 824606-824610, 824613, 824651-824685, 824716-824737, 824783, 824789-824791, 824800-824801, 824809, 824828, 824835-824836
126CTSD110.3761097659402777312391774733-1774746, 1774755-1774761, 1774793-1774833, 1774849, 1774860, 1775037-1775093, 1775096-1775131, 1775224, 1775228-1775267, 1775290-1775297, 1775320-1775338, 1775348, 1775363-1775368, 1776136-1776137, 1776197, 1778560-1778621, 1778634-1778637, 1778639-1778641, 1778645, 1778665-1778684, 1778698, 1778701-1778708, 1778725, 1778730, 1778734-1778745, 1780199-1780212, 1780229-1780317, 1780746-1780768, 1780786-1780829, 1780843-1780869, 1782539-1782698, 1785022-1785089
127TNNI2110.593806921675772235491861459-1861468, 1861633-1861670, 1861758-1861763, 1861770-1861793, 1861805-1861863, 1861879-1861882, 1862062-1862090, 1862286-1862290, 1862334-1862346, 1862361, 1862374-1862379, 1862414-1862437, 1862702, 1862763-1862765
128TNNT3110.205920205920216177771944113-1944116, 1944280-1944291, 1944785-1944796, 1946329-1946338, 1947925-1947939, 1950354-1950373, 1951040-1951058, 1953740, 1954951-1955067, 1955161-1955205, 1955210-1955215, 1955229-1955238, 1955572-1955658, 1955668, 1955674, 1955776-1955786, 1955807-1955885, 1956073-1956149, 1958193-1958208, 1958215-1958233, 1959668-1959722
129H19110.921568627450988410712017546-2017578, 2017638, 2017748-2017778, 2017826, 2017829-2017830, 2017992-2017998, 2018072, 2018336, 2018358-2018363, 2018426
130IGF2110.0618846694796066677112154217-2154453, 2154747-2154895, 2156597-2156759, 2161365-2161385, 2161388, 2161395, 2161399-2161466, 2161484-2161509, 2161526
131TH110.12190476190476138315752185463-2185595, 2185605-2185606, 2185609-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188706, 2189096-2189163, 2189321-2189397, 2189721-2189751, 2189757-2189895, 2190895-2190933, 2190942-2191067, 2191076, 2191098-2191101, 2191920-2191979, 2191992, 2191995, 2192927-2192932
132KCNQ1110.7065484982767159620312466329-2466364, 2466374-2466461, 2466484-2466510, 2466528, 2466533-2466563, 2466575-2466616, 2466634-2466659, 2466677-2466714, 2591858-2591879, 2591889-2591922, 2593243-2593280, 2593316-2593335, 2594126-2594131, 2594141, 2594148-2594150, 2604665-2604688, 2604728-2604729, 2608802-2608852, 2608864-2608895, 2609943-2609960, 2610064-2610084, 2683234-2683237, 2683291, 2790119-2790146, 2799212, 2799237
133CDKN1C110.0757097791798118799512905234-2905243, 2905253-2905297, 2905320-2905364, 2905900-2906568, 2906597-2906681, 2906695-2906719
134SMPD1110.993670886075951218966411931-6411942
135SBF2110.99837837837838955509812121-9812129
136KCNJ11110.995737425404945117317408524-17408528
137ABCC8110.998103666245269474617498266-17498268, 17498306-17498311
138LDHA110.976976976976982399918422384-18422397, 18422507-18422508, 18427062-18427068
139SLC6A5110.999582289055971239420636358
140ANO5110.99817651349385274222301236-22301240
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147DDB2110.9836448598130821128447259476-47259494, 47259533-47259534
148MADD110.9870550161812364494447296484-47296488, 47304022-47304028, 47306086, 47306089-47306108, 47308020-47308022, 47311701-47311722, 47350215-47350220
149MYBPC3110.80287581699346754382547353659-47353676, 47354141-47354149, 47354365-47354374, 47354784-47354799, 47355493, 47356654, 47356705-47356729, 47357518-47357527, 47358991, 47360131-47360157, 47360955, 47362689-47362712, 47362724, 47363677-47363707, 47364438, 47364453, 47364468-47364478, 47364480-47364481, 47364636-47364655, 47364670, 47365080, 47365117-47365125, 47365143-47365153, 47365160, 47367758-47367793, 47367820, 47367839-47367851, 47367854, 47367882-47367921, 47368178-47368195, 47368978, 47368988-47368992, 47369002-47369030, 47369202-47369208, 47369438-47369439, 47369443, 47370020-47370021, 47370037, 47370041, 47370063-47370076, 47371333-47371376, 47371435-47371471, 47371569-47371620, 47371624-47371625, 47371641-47371656, 47372053-47372079, 47372097-47372099, 47372115-47372150, 47372790-47372792, 47372822-47372862, 47372870-47372876, 47372885-47372928, 47372988-47372990, 47373009-47373019, 47373046-47373056, 47374187-47374198
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153SERPING1110.9886892880904917150357365766, 57381997-57382012
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155SDHAF2110.99001996007984550161197643-61197645, 61197649, 61213489
156ROM1110.9668560606060635105662380784-62380813, 62381312-62381316
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160EFEMP2110.9872372372372417133265635767, 65635883-65635887, 65636001, 65636053, 65638080, 65639475, 65639750-65639756
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183FXYD2110.997716894977171438117693288
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220SUOX120.99938949938951163856398138
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226LYZ120.9910514541387444769742221-69742224
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230UNG120.995753715498944942109539732-109539733, 109547727, 109547730
231MMAB120.9760956175298818753109994834-109994840, 109994847, 109998849, 109998905-109998909, 109999238, 110011217, 110011229, 110011244
232MVK120.99076406381192111191110012632, 110012684-110012685, 110013837, 110034249, 110034260, 110034321, 110034348-110034351
233TRPV4120.872706422018353332616110221443-110221468, 110221543-110221549, 110224516, 110224565-110224597, 110224626-110224642, 110230472, 110230475-110230476, 110230591-110230594, 110231803-110231821, 110234420-110234426, 110236429-110236449, 110236519-110236521, 110236536, 110236573, 110236641-110236656, 110238423-110238454, 110238526-110238532, 110240858-110240894, 110240931-110240948, 110246156-110246232, 110246272-110246273, 110252223
234ATP2A2120.9996804090763813129110784240
235ATXN2120.847031963470326033942111891631-111891635, 111902487, 111926391-111926410, 111926452-111926458, 112036601-112036686, 112036697, 112036712-112036964, 112036978-112037003, 112037025-112037128, 112037187-112037210, 112037222-112037297
236SDS120.9898682877406310987113835100-113835106, 113835154, 113836579-113836580
237ACADS120.9951573849878961239121175707-121175712
238HNF1A120.87078059071732451896121416868-121416897, 121432117, 121434086-121434093, 121434193-121434200, 121434424-121434470, 121434505-121434528, 121435342-121435349, 121435395-121435400, 121435409-121435439, 121437095, 121437286-121437316, 121437343-121437355, 121437382-121437386, 121437393-121437394, 121437407-121437409, 121437412-121437417, 121438904, 121438919-121438938
239HPD120.902707275803721151182122284775-122284779, 122285040, 122286910-122286957, 122287601-122287611, 122287618, 122287673-122287689, 122292682-122292698, 122294231, 122294294-122294295, 122294302-122294303, 122294530-122294531, 122295241, 122295315-122295319, 122295335, 122295679
240ATP6V0A2120.9976662777129562571124197113-124197114, 124229162-124229165
241PUS1120.96261682242991481284132414509-132414511, 132414571-132414578, 132416810-132416814, 132425894-132425898, 132426079-132426082, 132426086-132426098, 132426106-132426108, 132426398-132426402, 132426443-132426444
242SACS130.9971615720524391374023905727, 23905812-23905814, 23911737-23911740, 23912317-23912329, 23914597-23914604, 23914903-23914912
243CENPJ130.99825740602447401725466831-25466837
244BRCA2130.9993175392414971025732893440, 32903618, 32903629, 32912532-32912535
245FREM2130.999158780231348951039261568-39261573, 39454446, 39454800
246SLC25A15130.97571743929362290641373279-41373300
247TNFSF11130.9979035639413295443180907, 43180911
248SUCLA2130.9885057471264416139248528293-48528304, 48528309-48528311, 48528383
249RB1130.9960531036957311278748937075-48937085
250ATP7B130.998635743519786439852509807, 52523871-52523873, 52542620-52542621
251SLITRK1130.999521759923481209184453806
252ZIC2130.846153846153852461599100634391, 100634395-100634414, 100634514-100634529, 100634587-100634605, 100634803-100634808, 100635008-100635013, 100635056-100635072, 100637330-100637336, 100637647-100637670, 100637683-100637760, 100637824-100637867, 100637883-100637885, 100637932-100637936
253PCCA130.99222679469593172187100741444, 101101544-101101559
254COL4A1130.99201596806387405010110959309-110959332, 110959356, 110959360-110959374
255F7130.2119850187265910521335113760156-113760219, 113765004-113765028, 113765037-113765057, 113765068-113765141, 113765151-113765164, 113768066-113768067, 113768161-113768201, 113768207-113768213, 113768244-113768274, 113769974-113770114, 113771080-113771093, 113771096, 113771099-113771109, 113771113, 113771117-113771127, 113771145, 113771150, 113771154-113771182, 113771812-113771819, 113771827-113771831, 113771850-113771910, 113772729-113772766, 113772770, 113772790, 113772809-113772820, 113772841-113773107, 113773117-113773177, 113773180-113773181, 113773204-113773284, 113773297-113773322
256F10130.715746421267894171467113777178-113777232, 113792773-113792776, 113795336, 113798217-113798240, 113798267-113798277, 113798283-113798285, 113798328-113798362, 113798392-113798402, 113801737, 113801772-113801774, 113801778, 113801806-113801809, 113803231-113803246, 113803270-113803309, 113803327, 113803393, 113803399, 113803406-113803418, 113803422, 113803473-113803507, 113803531, 113803535, 113803560-113803605, 113803611-113803612, 113803617, 113803627-113803636, 113803653-113803670, 113803690-113803704, 113803724-113803752, 113803761-113803793
257GRK1130.891252955082741841692114321723-114321724, 114321768-114321789, 114322053-114322056, 114322131-114322134, 114322141-114322144, 114322174-114322200, 114324015-114324032, 114324107-114324109, 114324112-114324113, 114325814-114325834, 114325867-114325892, 114325942, 114325947-114325971, 114426059-114426061, 114426085-114426094, 114426099, 114434194-114434197, 114434210, 114435937-114435938, 114435945, 114435952-114435954
258RPGRIP1140.99611499611515386121769371-21769378, 21775976-21775979, 21785864, 21813336-21813337
259SLC7A7140.9837239583333325153623282113-23282126, 23282504-23282507, 23282561-23282567
260PABPN1140.967426710097723092123790679-23790708
261MYH6140.9974226804123715582023858208, 23871986, 23871997-23872009
262NRL140.94537815126053971424550537-24550542, 24550546-24550549, 24551768, 24551773-24551778, 24551795, 24551805-24551808, 24551814-24551824, 24551941-24551942, 24552033-24552036
263PCK2140.9927197087883514192324572451-24572464
264TGM1140.87734311328443301245424718596-24718630, 24718652-24718658, 24718741-24718747, 24723359, 24723364, 24723395-24723404, 24723451, 24723897, 24723927-24723928, 24724004-24724030, 24724219-24724246, 24724309, 24724314-24724322, 24724331-24724335, 24724344-24724385, 24724400-24724403, 24724434-24724440, 24724635, 24724679-24724687, 24724703-24724710, 24725220-24725222, 24725235-24725248, 24725281-24725283, 24727530, 24727546, 24727550, 24727563-24727594, 24727788-24727797, 24728910-24728913, 24728980-24728985, 24731450, 24731453, 24731464-24731470, 24731479-24731487, 24731490, 24731544
265FOXG1140.83537414965986242147029236520-29236526, 29236530, 29236624-29236626, 29236632-29236635, 29236669, 29236673-29236674, 29236678-29236680, 29236686-29236703, 29236728, 29236735, 29236738-29236808, 29236828-29236957
266CFL2140.99600798403194250135183744-35183745
267NKX2-1140.9883913764510814120636986591, 36986597, 36986604, 36986607-36986609, 36986621, 36988377-36988383
268FANCM140.98064096307142119614745618065, 45618095-45618130, 45620636-45620643, 45620702, 45620726-45620731, 45623969-45624001, 45636292, 45642380-45642392, 45644410, 45644456, 45644491, 45644850, 45645518, 45650641-45650645, 45650719-45650727, 45669159
269MGAT2140.994791666666677134450088035, 50088522-50088524, 50089297-50089299
270C14orf104140.93078758949881174251450100376, 50100671-50100678, 50100683-50100684, 50100691, 50100832-50100838, 50100942-50100949, 50100975-50100981, 50101092-50101097, 50101147-50101173, 50101241-50101246, 50101259-50101260, 50101263, 50101267-50101269, 50101346-50101370, 50101427-50101432, 50101442, 50101553-50101561, 50101564-50101566, 50101571, 50101580-50101621, 50101631-50101634, 50101680-50101682, 50101693
271L2HGDH140.99856321839082139250713780, 50713792
272ATL1140.999398315282791166251057727
273PYGL140.9909591194968623254451381419-51381438, 51381532-51381533, 51398442
274GCH1140.934926958831344975355369089, 55369159-55369162, 55369197, 55369221-55369233, 55369236-55369244, 55369270-55369288, 55369350, 55369353
275SYNE2140.99879366917583252072464488121-64488130, 64491169-64491177, 64556361-64556363, 64685225-64685227
276ZFYVE26140.99960629921263762068257484-68257485, 68274486
277VSX2140.9650092081031338108674706314, 74706373, 74706377-74706385, 74706412-74706426, 74706455-74706466
278EIF2B2140.9876893939393913105675471579-75471588, 75471592-75471593, 75474489
279MLH3140.999541494727192436275514035, 75514307
280FLVCR2140.998734977862112158176045858, 76045963
281TGFB3140.998385794995962123976446986-76446987
282ESRRB140.998690242305172152776905790-76905791
283POMT2140.9822458943630740225377744801-77744802, 77745079-77745085, 77745175-77745177, 77745193, 77745204, 77786832, 77786844-77786846, 77786853, 77786884, 77786942, 77786971-77786973, 77786991-77786993, 77787009-77787021
284TTC8140.9819121447028428154889305850-89305865, 89305871, 89307786-89307792, 89310172-89310175
285ATXN3140.995395948434625108692537354-92537358
286VRK1140.999160369437451119197304149
287AMN140.04478707782672513011362103389026, 103389032-103389035, 103389039-103389040, 103389049-103389068, 103390053-103390105, 103390114-103390120, 103390130-103390131, 103390134-103390142, 103390159-103390166, 103390272-103390316, 103394768-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
288INF2140.2866666666666726753750105167703-105167788, 105167803, 105167807, 105167823-105167879, 105167887-105168007, 105168052-105168093, 105169442-105169462, 105169481-105169492, 105169495-105169554, 105169632-105169687, 105169711, 105169728-105169739, 105169750-105169789, 105170253-105170278, 105172372-105172462, 105172486, 105172493, 105172513, 105173254-105173260, 105173277-105173305, 105173317, 105173322, 105173348, 105173371, 105173386-105173388, 105173596-105173614, 105173624-105173674, 105173719, 105173722-105173796, 105173808, 105173844-105174339, 105174773-105174924, 105175044-105175048, 105175055-105175066, 105175618-105175631, 105175640-105175657, 105175677, 105175680, 105175683-105175688, 105175693-105175697, 105175710-105175720, 105175957-105175967, 105175974-105175995, 105176014-105176042, 105176425-105176492, 105176501-105176525, 105177274-105177276, 105177308-105177344, 105177416-105177521, 105177975-105178013, 105178020-105178036, 105178770-105178809, 105178815-105178890, 105179165-105179185, 105179191-105179225, 105179249-105179277, 105179296-105179317, 105179544-105179560, 105179572, 105179598-105179619, 105179632, 105179635, 105179645, 105179782-105179784, 105179812-105179816, 105179824-105179843, 105179858, 105179862-105179875, 105179901-105179930, 105180540-105180581, 105180599-105180620, 105180628-105180654, 105180667-105180687, 105180693, 105180700-105180722, 105180734-105180735, 105180743-105180769, 105180774-105180803, 105180840-105180856, 105180868, 105180888-105180889, 105180905-105180940, 105180955-105180974, 105180992-105181036, 105181056-105181103, 105181113, 105181125-105181140, 105181160, 105181166-105181181, 105181637-105181676
289NIPA1150.796969696969720199023048997-23049004, 23049049-23049055, 23049107-23049113, 23062293, 23086234-23086411
290TRPM1150.9968827930174615481231320568-31320572, 31332372-31332380, 31369123
291IVD150.994535519125687128140698032-40698036, 40698135-40698136
292CHST14150.984084880636618113140763465-40763482
293CDAN1150.9921281216069529368443021777-43021788, 43021791, 43022929-43022938, 43028095-43028100
294TTBK2150.9919678714859430373543038001-43038014, 43103958-43103972, 43109257
295STRC150.992304804804841532843910863-43910903
296SPG11150.9864975450081899733244856748, 44858429-44858443, 44864886, 44864889, 44867129-44867130, 44867164-44867194, 44876556-44876564, 44877853, 44892812, 44900672, 44903042, 44903070, 44907679, 44912432-44912449, 44912582, 44914089, 44914500, 44914948, 44921431-44921434, 44943814-44943820
297DUOX2150.91392296105014400464745390216, 45391600, 45391612-45391668, 45391892-45391898, 45392045-45392046, 45392088, 45392256-45392264, 45392293-45392334, 45392414-45392426, 45392966-45392976, 45392994, 45393010, 45393443-45393444, 45393452-45393457, 45393991-45394001, 45394014, 45394172-45394187, 45396399-45396419, 45396559, 45398008, 45398011, 45398015-45398022, 45398025, 45398389-45398408, 45398471, 45398474, 45399074-45399099, 45399650-45399661, 45400257-45400261, 45400358, 45401018, 45401049-45401051, 45401061-45401067, 45401102, 45402888-45402895, 45403379, 45403391, 45403401, 45403441-45403469, 45403595, 45403704, 45403707-45403708, 45403723, 45403746, 45403749-45403750, 45403760, 45403766, 45403970-45403996, 45404057-45404058, 45404066, 45404071, 45404818-45404841, 45405566-45405567
298GATM150.9913522012578611127245670613-45670623
299SLC12A1150.9945454545454518330048527168, 48559894-48559898, 48561941, 48591407-48591417
300FBN1150.9988393686165310861648738921-48738927, 48740973, 48788407, 48788413
301CEP152150.9957703927492421496549059553-49059563, 49076228-49076237
302TPM1150.975438596491232185563336009-63336029
303SPG21150.961165048543693692765257735-65257751, 65262468-65262478, 65275893-65275900
304MAP2K1150.996615905245354118266679746-66679749
305CLN6150.940170940170945693668500488-68500497, 68502081-68502094, 68506691-68506706, 68521845-68521860
306HEXA150.9786163522012634159072668121-72668131, 72668167-72668181, 72668278-72668285
307BBS4150.999358974358971156073029927
308HCN4150.86987818383167470361273614885, 73614891-73614894, 73614925, 73614983-73615017, 73615084-73615089, 73615092, 73615248-73615261, 73615365, 73615418-73615422, 73615625, 73615951, 73616067-73616069, 73616146-73616148, 73616152, 73616584-73616594, 73659954-73659957, 73659980-73660016, 73660050-73660125, 73660132-73660169, 73660213-73660269, 73660278, 73660301-73660339, 73660349, 73660356-73660357, 73660373, 73660384, 73660393, 73660413, 73660419, 73660430, 73660434-73660439, 73660457-73660522, 73660558-73660601, 73660607-73660611
309PSTPIP1150.0287769784172661215125177310489-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
310RPS17150.99754901960784140882822750
311RPS17150.99754901960784140883207093
312FANCI150.9904690243290738398789790911, 89834872-89834875, 89835926, 89835958-89835960, 89836185-89836187, 89836219-89836235, 89837204-89837210, 89856140-89856141
313POLG150.95752688172043158372089864038-89864039, 89865052-89865059, 89868793-89868799, 89869941-89869943, 89870162, 89870568-89870572, 89871714-89871716, 89871748-89871766, 89871926-89871927, 89871972-89871997, 89872019, 89872028-89872030, 89873356-89873368, 89876740-89876746, 89876804, 89876817-89876873
314MESP2150.9288107202680185119490319642, 90319694-90319719, 90319759-90319767, 90319782, 90320031-90320048, 90320119, 90320149-90320158, 90320163, 90320191-90320200, 90320253-90320259, 90320272
315BLM150.9929478138222830425491337461-91337475, 91337575-91337581, 91346872, 91358495-91358501
316IGF1R150.9965886939571214410499192885-99192892, 99467214-99467215, 99500668-99500671
317HBZ160.63403263403263157429202957-202959, 202962, 202985-203003, 203935-203970, 203992-204009, 204039, 204055, 204064, 204089-204095, 204271-204333, 204369-204375
318HBA2160.9557109557109619429222928-222930, 222979-222980, 222989, 222992-222997, 223003, 223212, 223308, 223485-223487, 223493
319GNPTG160.783224400871461999181401967-1401987, 1401994-1402018, 1402103-1402149, 1402240-1402243, 1402280-1402307, 1411750-1411756, 1411894, 1411897, 1412039-1412042, 1412244-1412290, 1412311-1412321, 1412456, 1412459, 1412515
320CLCN7160.31306865177833166124181496632-1496645, 1496650, 1496657, 1496671-1496696, 1496705, 1497016-1497087, 1497393-1497508, 1497521-1497544, 1497554-1497569, 1497656-1497715, 1498356-1498441, 1498452-1498485, 1498682-1498767, 1498967-1499094, 1499277-1499296, 1499318, 1499321, 1499325, 1500498-1500667, 1501624-1501671, 1501678-1501717, 1502756-1502814, 1502821-1502873, 1502882-1502894, 1503844-1503888, 1503891, 1503894, 1504423-1504440, 1504453-1504466, 1505141-1505216, 1505238-1505244, 1505732-1505785, 1506155-1506156, 1506161-1506202, 1507255-1507276, 1507300-1507338, 1507733-1507735, 1509108-1509188, 1510419-1510440, 1510470-1510513, 1511406-1511410, 1511423-1511427, 1515316, 1524835-1524840, 1524850, 1524866-1524873, 1524876, 1524884-1524975
321IGFALS160.30383022774327134519321840601-1840606, 1840616-1840707, 1840731-1840734, 1840753, 1840761-1840809, 1840818-1840847, 1840854-1840856, 1840874-1840944, 1840950-1840953, 1840956-1840971, 1840974-1841042, 1841055-1841077, 1841088-1841130, 1841134-1841139, 1841153-1841192, 1841208-1841238, 1841248-1841253, 1841284-1841304, 1841326, 1841358-1841393, 1841405-1841474, 1841492-1841578, 1841599-1841652, 1841666-1841716, 1841748, 1841763, 1841767, 1841773, 1841777-1841809, 1841832-1841864, 1841886-1841944, 1841950-1841975, 1841999-1842047, 1842057, 1842067-1842118, 1842138, 1842142-1842152, 1842157-1842160, 1842201-1842223, 1842239-1842282, 1842297-1842308, 1842311-1842319, 1842330-1842471, 1842500, 1842506-1842516, 1843638-1843653
322GFER160.373786407766993876182034220-2034292, 2034304-2034477, 2034748-2034759, 2034802-2034809, 2034813-2034824, 2034862-2034892, 2034929, 2035874-2035894, 2035902-2035954, 2035998-2035999
323TSC2160.16685103244838451954242098617-2098620, 2098635-2098650, 2098677-2098681, 2098685, 2098690, 2098694, 2098707-2098754, 2100401-2100425, 2100479-2100486, 2103343-2103355, 2103361-2103437, 2103445-2103447, 2104297-2104333, 2104412, 2104416-2104435, 2105403-2105440, 2105487, 2106220-2106223, 2106645-2106676, 2106751, 2107143-2107179, 2108760-2108874, 2110706-2110726, 2110764-2110814, 2111936-2111957, 2111979, 2111991, 2112498-2112571, 2112578-2112586, 2112973-2113054, 2114273-2114298, 2114322-2114428, 2115520-2115528, 2115544-2115546, 2115557-2115636, 2120457, 2120464-2120578, 2121511-2121573, 2121583-2121617, 2121785-2121815, 2121828-2121878, 2121904-2121907, 2121913-2121935, 2122242-2122266, 2122288, 2122321-2122364, 2122850-2122899, 2122905-2122984, 2124201-2124390, 2125802-2125828, 2125842, 2125855-2125880, 2125889-2125893, 2126069-2126171, 2126492-2126586, 2127599-2127714, 2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
324PKD116012912129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
325ABCA3160.76852394916911118451152326675-2326678, 2327660-2327662, 2327667-2327669, 2327889, 2327897-2327899, 2327964, 2327975, 2328069-2328070, 2328301-2328320, 2328379, 2328391, 2328394-2328395, 2328437, 2329007-2329009, 2329062, 2329065, 2331056, 2331158, 2331176-2331180, 2331405-2331437, 2331458-2331459, 2331493-2331510, 2333187-2333234, 2333338-2333359, 2334280, 2334283, 2334327-2334345, 2334375, 2334386, 2334432, 2334805, 2334913-2334919, 2334955-2334957, 2334997, 2335443-2335445, 2335449-2335457, 2335460-2335461, 2335577-2335618, 2335641-2335647, 2336695-2336702, 2336755, 2336783, 2336792, 2336797-2336798, 2336838-2336844, 2336950-2336959, 2338073-2338094, 2338137-2338143, 2338186-2338209, 2339501-2339502, 2339559-2339592, 2342141-2342171, 2342186-2342217, 2345596-2345638, 2345717-2345736, 2347330-2347334, 2347347-2347377, 2347387-2347431, 2347443, 2347451-2347473, 2347480, 2347501-2347540, 2347779-2347799, 2347832-2347849, 2347855, 2347858, 2347865-2347870, 2347882-2347922, 2348387-2348418, 2348446, 2348475, 2349413-2349430, 2349436-2349471, 2349505-2349529, 2350006-2350034, 2350053-2350055, 2350060-2350064, 2350097-2350102, 2354056-2354085, 2354092-2354108, 2354123-2354151, 2358530, 2358547-2358549, 2358555, 2358606-2358612, 2367684-2367699, 2367739-2367765, 2369586-2369612, 2369645-2369679, 2369701-2369718, 2369725-2369729, 2369745-2369765, 2369808, 2369816-2369827, 2373684-2373685, 2374491, 2376026-2376043, 2376420
326MEFV160.966751918158577823463293403-3293407, 3293621-3293629, 3294488-3294509, 3294542-3294567, 3306418-3306433
327SLX4160.9387829246139933755053632418-3632429, 3632432-3632434, 3632452-3632455, 3632503-3632541, 3633130, 3633188-3633198, 3633289-3633294, 3633309-3633311, 3633318-3633322, 3639019-3639024, 3639446-3639474, 3639609-3639610, 3639637-3639655, 3639751-3639786, 3639796-3639825, 3639828-3639833, 3639992-3639997, 3640057, 3640249-3640251, 3640274, 3640552-3640558, 3641257, 3642804-3642808, 3642821, 3642846-3642847, 3642850-3642851, 3642858-3642866, 3644489-3644497, 3646216-3646225, 3647558, 3647573, 3647592-3647613, 3647832-3647851, 3647903-3647910, 3650987, 3650991, 3651072-3651076, 3652237, 3656588-3656593, 3656651-3656652
328CREBBP160.9042161277118370273293777725-3777757, 3777760, 3777775, 3777784-3777798, 3777858-3777907, 3777997, 3778057-3778077, 3778132-3778179, 3778213, 3778245, 3778250, 3778286-3778323, 3778347, 3778352, 3778366-3778469, 3778492, 3778566-3778587, 3778591, 3778598-3778617, 3778628-3778641, 3778643-3778646, 3778681-3778700, 3778706-3778707, 3778739-3778746, 3778768-3778800, 3778871, 3778899-3778972, 3779009-3779015, 3779054-3779107, 3779147-3779179, 3779199, 3779202, 3779247-3779253, 3779291-3779294, 3779402-3779418, 3779424, 3779460-3779498, 3779511-3779512, 3779574, 3779666, 3779676, 3779701, 3779706-3779707, 3788580-3788586, 3817743, 3819239-3819243
329GLIS2160.07047619047619146415754382282-4382283, 4382289-4382301, 4382304-4382305, 4382322-4382363, 4382380-4382453, 4383348-4383393, 4383418-4383474, 4383486-4383487, 4383499-4383520, 4384802-4384978, 4385061-4385194, 4385276-4385394, 4386726-4386856, 4386867-4386891, 4386903-4387381, 4387387-4387525
330ALG1160.7311827956989237513955121883-5121904, 5127491, 5127920-5127954, 5128767-5128841, 5128854-5128879, 5129077-5129089, 5130947-5130999, 5131015-5131057, 5133683-5133686, 5133710-5133745, 5134751-5134759, 5134767-5134777, 5134813-5134859
331ABAT160.991350632069191315038873411-8873412, 8873415-8873416, 8873420-8873428
332ABCC6160.734264184397161199451216244008-16244044, 16244082-16244087, 16244483, 16244525-16244551, 16244571-16244572, 16248732-16248733, 16251529-16251532, 16253367-16253368, 16253380-16253384, 16253388, 16253398-16253405, 16253409-16253416, 16255295-16255326, 16255333-16255373, 16255387-16255392, 16255404, 16255414-16255421, 16256850-16256861, 16256878-16256896, 16256901, 16256922-16256939, 16256965-16256982, 16256999, 16257013-16257018, 16257025-16257033, 16259486-16259686, 16259707-16259741, 16259774-16259790, 16263515-16263710, 16267141-16267209, 16267221-16267261, 16269768-16269816, 16269827-16269843, 16271309-16271344, 16271347, 16271373-16271453, 16271479-16271483, 16272670, 16272673, 16272722, 16272751-16272756, 16272766-16272771, 16272796-16272811, 16276337-16276340, 16276398-16276425, 16276680-16276720, 16276746-16276786, 16278825, 16278863, 16278869, 16278873-16278891, 16280989-16280996, 16315633
333UMOD160.9921996879875215192320344686-20344692, 20359861-20359862, 20360343-20360348
334OTOA160.995321637426916342021696668-21696669, 21702970, 21702974-21702986
335SCNN1G160.999487179487181195023200858
336SCNN1B160.999479979199171192323392102
337COG7160.9805447470817145231323400241-23400245, 23400366-23400372, 23403722-23403732, 23403776-23403786, 23436146-23436156
338PALB2160.999157540016853356123614958-23614959, 23635370
339CLN3160.9711465451784438131728497674-28497690, 28498840, 28498983-28499001, 28499940
340TUFM160.9926900584795310136828857378-28857379, 28857415-28857418, 28857561-28857564
341ATP2A1160.9777112441783167300628890053, 28895912-28895919, 28898866-28898882, 28898985-28898988, 28899029, 28900154-28900174, 28912218, 28913194-28913200, 28914756-28914758, 28915521, 28915524-28915526
342CD19160.996409335727116167128950060-28950062, 28950282-28950284
343PHKG2160.9746109746109731122130760167-30760173, 30760213, 30760232-30760236, 30764718-30764724, 30768266, 30768365-30768372, 30768375-30768376
344VKORC1160.959349593495932049231102460-31102466, 31102622-31102634
345FUS160.9765970904490837158131193881-31193883, 31195279, 31195289, 31195305-31195313, 31195640-31195645, 31195684-31195689, 31196443-31196453
346SLC5A2160.9895988112927221201931494525-31494545
347NOD2160.9935959013768820312350733762-50733767, 50745367-50745380
348CYLD160.998602375960874286250825507-50825510
349SALL1160.998490566037746397551175656-51175661
350RPGRIP1L160.9959473150962516394853672323, 53691521-53691535
351BBS2160.999538319482921216656536617
352SLC12A3160.9650824442289108309356899220-56899221, 56900982-56900985, 56901099-56901104, 56914135-56914141, 56919261, 56920294-56920303, 56920954-56920955, 56920958-56920959, 56920969, 56920983, 56921885-56921899, 56921927-56921943, 56924211-56924212, 56936391-56936407, 56938324-56938342, 56947249-56947250
353GPR56160.997577519379845206457695756-57695760
354CNGB1160.997603833865819375657996768-57996776
355TK2160.99891774891775192466583958
356HSD11B2160.82840722495895209121867465152-67465337, 67465399-67465413, 67469990, 67469994-67470000
357LCAT160.4822373393802685132367973807-67973816, 67973859-67973907, 67973926-67973952, 67973959-67973961, 67973976-67974007, 67974013-67974029, 67974031-67974052, 67974087-67974134, 67974167-67974174, 67974185-67974241, 67974258-67974292, 67974321-67974347, 67974372-67974381, 67976321-67976340, 67976347-67976449, 67976463, 67976470-67976490, 67976581-67976627, 67976640, 67976654-67976658, 67976767-67976794, 67976878-67976879, 67976961-67976997, 67977007-67977022, 67977043-67977060, 67977091, 67977096, 67977107, 67977960-67977978, 67977986-67978004
358CDH3160.8995983935743250249068679561-68679571, 68716205, 68716283, 68718498-68718499, 68718540-68718561, 68718592-68718594, 68718673-68718712, 68719119-68719126, 68719207-68719235, 68721452-68721457, 68721470, 68721486-68721507, 68721591-68721639, 68725712-68725722, 68725732-68725745, 68725751-68725752, 68725755, 68725783-68725789, 68725792-68725796, 68725821-68725829, 68729242, 68729248, 68732145-68732148
359CDH1160.9962249905624810264968771355-68771363, 68842683
360CIRH1A160.998059194565744206169167399, 69187562, 69188338-69188339
361COG8160.92822185970636132183969364742-69364749, 69364762-69364774, 69364791-69364829, 69364866, 69364869, 69364984-69364985, 69366777, 69368865, 69373138-69373143, 69373195, 69373204-69373240, 69373250, 69373253, 69373260, 69373311-69373321, 69373329-69373333, 69373367-69373368, 69373396
362AARS160.9817681458548353290770294989, 70296257-70296269, 70296356, 70298885, 70298894-70298900, 70301642, 70301706, 70302213-70302238, 70303665-70303666
363HP160.9909909909909911122172092153-72092161, 72093017, 72093033
364GCSH160.831417624521078852281118145, 81129736-81129757, 81129763-81129790, 81129800-81129807, 81129849-81129877
365GAN160.993311036789312179481348726, 81348767-81348777
366MLYCD160.90620782726046139148283932779-83932788, 83932823-83932831, 83932871-83932877, 83932978-83933007, 83933073-83933140, 83933154-83933160, 83948771-83948778
367LRRC50160.9885215794306725217884203465-84203468, 84203475, 84209848-84209867
368FOXF1160.997368421052633114086544211-86544213
369FOXC2160.9907038512616214150686601556-86601566, 86602113, 86602190-86602191
370JPH3160.5607476635514987224787636861-87636870, 87636906-87636908, 87636916-87636948, 87636955-87636972, 87637102-87637122, 87677972-87677973, 87678030-87678057, 87678167-87678169, 87678324, 87678375-87678418, 87678476-87678482, 87678576-87678613, 87678628, 87717795-87717797, 87717810-87717827, 87717837-87717872, 87723261-87723341, 87723354-87723391, 87723416-87723788, 87723824-87723852, 87723870-87723913, 87723930-87724066, 87724085-87724092, 87724101-87724111
371CYBA160.06802721088435454858888709761-88709979, 88712537-88712605, 88713164-88713186, 88713194-88713246, 88713509-88713583, 88714453-88714485, 88714493-88714495, 88714508-88714522, 88717364-88717421
372APRT160.2412523020257841254388876106-88876226, 88876245-88876248, 88876478-88876556, 88876831-88876868, 88876903-88876917, 88876939-88876945, 88876958, 88877958-88877960, 88877968-88878007, 88878041-88878064, 88878228-88878307
373GALNS160.64117272147865563156988880847-88880851, 88880895, 88880900, 88880926, 88880930-88880931, 88884420-88884450, 88884464-88884466, 88884473-88884512, 88888997-88889118, 88891186-88891207, 88891227, 88891233, 88891237, 88891247-88891277, 88893111, 88893117-88893127, 88893143, 88893153-88893160, 88893191-88893215, 88898406-88898408, 88898414-88898425, 88901710-88901730, 88901754-88901760, 88902133-88902147, 88902254-88902257, 88904035-88904062, 88907419-88907420, 88907433, 88907456, 88907459, 88907481-88907502, 88908331, 88909114-88909127, 88909136-88909142, 88909190-88909215, 88909224-88909237, 88923166-88923210, 88923231, 88923235-88923247, 88923258, 88923263-88923268, 88923271-88923279, 88923285
374SPG7160.8643216080402324238889574826-89574844, 89574848, 89574900, 89574910-89574930, 89574983-89574991, 89575000-89575008, 89579411-89579414, 89598356-89598397, 89599006-89599022, 89613149-89613151, 89613167, 89614411-89614418, 89614437-89614449, 89614468-89614516, 89616962, 89619516-89619518, 89620243, 89620293-89620306, 89620346, 89620362-89620368, 89620900-89620908, 89623314-89623345, 89623376, 89623381, 89623413-89623424, 89623443-89623445, 89623457-89623498
375FANCA160.96520146520147152436889805022-89805027, 89805095-89805116, 89805364, 89833572, 89836639-89836643, 89837016, 89837020-89837021, 89839749-89839758, 89839766, 89842161-89842182, 89877347-89877352, 89880929-89880934, 89882324, 89882945-89883012
376TUBB3160.41019955654102798135389989810-89989813, 89989826-89989866, 89998979-89998996, 89999001-89999008, 89999035-89999078, 89999084-89999087, 89999885-89999915, 90001239-90001272, 90001329-90001350, 90001380-90001390, 90001413-90001532, 90001545-90001612, 90001629-90001650, 90001667-90001751, 90001760-90001860, 90001877, 90001892, 90001900, 90001905-90001912, 90001923-90002038, 90002070, 90002073-90002075, 90002083-90002085, 90002126-90002157, 90002180-90002196, 90002211-90002212
377PRPF8170.9591894977168928670081557074, 1557078, 1557140-1557142, 1557146, 1557154-1557158, 1557164, 1557203-1557216, 1561576, 1561583-1561586, 1565265, 1576392, 1576431, 1577761-1577764, 1578525-1578546, 1578920, 1579012-1579033, 1579039-1579087, 1579239-1579257, 1579563-1579569, 1579807, 1580291-1580307, 1580342-1580375, 1580977-1580982, 1584324, 1585470, 1585473, 1586914-1586929, 1587766-1587795, 1587811, 1587814-1587816, 1587819, 1587850-1587865
378PAFAH1B1170.99594484995945512332579845-2579849
379CTNS170.6458852867830442612033552199-3552201, 3558364, 3558638-3558646, 3559781-3559880, 3559970-3560013, 3560021-3560089, 3561311-3561338, 3561460-3561467, 3563202, 3563207, 3563233-3563269, 3563530-3563566, 3563582, 3563593, 3563596-3563614, 3563922-3563967, 3564001-3564021
380CHRNE170.8542510121457521614824802140-4802147, 4802306, 4802314-4802334, 4802341, 4802347, 4802358-4802367, 4802594-4802598, 4802600, 4802657-4802679, 4802764-4802775, 4804104-4804141, 4804155-4804176, 4804342-4804343, 4804417-4804443, 4804447-4804483, 4805303, 4805377-4805382
381GP1BA170.99947916666667119204837747
382PITPNM3170.9347008547008519129256358665, 6358669, 6358679, 6358693-6358707, 6358727-6358748, 6358750-6358753, 6358772-6358787, 6358827-6358840, 6358958-6358963, 6373580-6373594, 6373671-6373673, 6374497-6374528, 6374537, 6374619, 6376124-6376130, 6377796-6377799, 6377915-6377924, 6381954, 6381957-6381958, 6381969, 6381977-6381978, 6382020, 6382048-6382056, 6459705-6459726
383ACADVL170.978150406504074319687123315-7123317, 7123992, 7124342-7124350, 7124952, 7124956, 7124970, 7125274-7125275, 7126034-7126037, 7126053, 7126057, 7127162-7127171, 7127336, 7127344, 7127349, 7127531, 7127669, 7127674-7127676, 7128146
384CHRNB1170.971447543160694315067348662-7348664, 7348711-7348717, 7348723, 7349421, 7350164, 7350174, 7350260, 7350405, 7350836-7350845, 7357676, 7358716-7358719, 7359158-7359164, 7359227-7359231
385MPDU1170.9905913978494677447489325-7489331
386GUCY2D170.9610507246376812933127906386-7906387, 7906396, 7906414-7906519, 7906669, 7906931, 7906935-7906948, 7907180-7907182, 7919772
387ALOX12B170.9472934472934511121067979493-7979497, 7980380-7980385, 7982726-7982774, 7982796-7982821, 7982828-7982830, 7982842-7982851, 7983130-7983136, 7984498, 7984501, 7989524-7989526
388MYH3170.9908981624592153582310549064, 10555808, 10558178, 10558208-10558210, 10558236-10558255, 10558314-10558340
389SCO1170.99227373068433790610584460, 10584558-10584563
390ELAC2170.9871019750100832248112899056-12899069, 12899894-12899911
391PMP22170.99792960662526148315163987
392TNFRSF13B170.98979591836735988216842943, 16843746-16843747, 16852233-16852238
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496DLL3190.89122240172321202185739989622-39989624, 39989862, 39993478-39993513, 39993554-39993563, 39993572, 39993574-39993578, 39993590-39993594, 39993600-39993626, 39994720-39994722, 39994785-39994786, 39994867-39994892, 39996009, 39996063-39996091, 39998022-39998033, 39998095-39998133, 39998486-39998487
497PRX190.9833561331509373438640900733, 40902744, 40909621, 40909641-40909660, 40909683-40909716, 40909754-40909769
498TGFB1190.91133844842285104117341837020-41837026, 41837107-41837110, 41838166, 41838168-41838171, 41838181-41838186, 41847788-41847796, 41847898, 41848092, 41848098-41848108, 41850689-41850691, 41850750-41850767, 41854350-41854360, 41858908-41858935
499BCKDHA190.9857997010463419133841928124, 41929003-41929020
500RPS19190.98401826484018743842364879-42364885
501ATP1A3190.96329526916803135367842470748-42470790, 42470803-42470809, 42470857-42470876, 42470935-42470936, 42470943-42470948, 42470999-42471003, 42471019, 42471050, 42471060-42471061, 42471064, 42471073, 42471094-42471102, 42471135-42471138, 42471325-42471326, 42471330-42471337, 42471349, 42471352-42471356, 42471360, 42471385, 42471411, 42480601-42480614
502ETHE1190.8653594771241810376544012096-44012103, 44012109-44012150, 44012159-44012197, 44012205-44012212, 44015632-44015637
503BCAM190.9268680445151138188745312382-45312463, 45323962-45323987, 45324024-45324041, 45324051, 45324063-45324073
504APOE190.96226415094343695445411166-45411175, 45411936-45411942, 45412350-45412361, 45412469-45412475
505BLOC1S3190.929392446633834360945682911, 45682926-45682945, 45682992-45682997, 45683027-45683042
506ERCC2190.86070959264126318228345855490-45855495, 45855892-45855901, 45856388-45856393, 45860736-45860752, 45864808-45864809, 45867074-45867095, 45867150-45867151, 45867165-45867169, 45867259, 45867285-45867299, 45867354-45867377, 45867500-45867526, 45867540-45867560, 45867682-45867732, 45867755-45867776, 45868114-45868126, 45868177-45868191, 45868313-45868354, 45872346-45872350, 45873420-45873430, 45873469
507SIX5190.79774774774775449222046268781, 46268793, 46268893-46268899, 46268925-46268926, 46269116, 46269165, 46269222-46269241, 46269303-46269322, 46269341, 46269665-46269696, 46269718-46269744, 46269781-46269806, 46269880-46269894, 46269919, 46269922-46269925, 46269936, 46269980-46270015, 46270046-46270060, 46270161-46270182, 46270234-46270257, 46270344, 46270385, 46270407-46270413, 46271537-46271573, 46271607-46271613, 46271710-46271729, 46271756, 46271802-46271813, 46271835-46271860, 46271890-46271899, 46271932-46271938, 46271950-46271986, 46272007-46272010, 46272050-46272071
508DMPK190.87777777777778231189046273805, 46274229-46274263, 46274277-46274308, 46274316-46274318, 46278236-46278245, 46278281-46278292, 46280678-46280713, 46280993-46280994, 46281432-46281438, 46281477-46281478, 46281858-46281863, 46281866-46281868, 46281873, 46282531-46282537, 46282607-46282613, 46283089-46283093, 46283119-46283127, 46285478, 46285483-46285496, 46285500-46285501, 46285507, 46285523-46285527, 46285529-46285541, 46285572-46285579, 46285589, 46285603-46285610
509FKRP190.56451612903226648148847258708-47258723, 47258736, 47258771-47258842, 47258912-47258915, 47259009-47259016, 47259027-47259029, 47259040, 47259053-47259057, 47259067-47259117, 47259125-47259162, 47259174-47259195, 47259214-47259259, 47259275-47259321, 47259357-47259412, 47259434-47259510, 47259513, 47259518, 47259547-47259553, 47259613-47259618, 47259624-47259682, 47259709-47259725, 47259848-47259891, 47260029-47260044, 47260126-47260175
510DBP190.4611451942740352797849134094-49134123, 49134181-49134206, 49134233, 49134236-49134254, 49134308-49134309, 49136704-49136706, 49136711-49136723, 49136793-49136797, 49136856-49136867, 49136904-49136910, 49138837-49138955, 49138962-49139019, 49139029-49139233, 49140193-49140210, 49140243-49140251
511BCAT2190.9762510602205328117949303255-49303257, 49303461, 49309783-49309806
512FTL190.958333333333332252849469030-49469038, 49469109, 49469112, 49469853, 49469878-49469882, 49469885-49469889
513GYS1190.89521228545619232221449472629, 49472632, 49472654-49472655, 49472658, 49477496-49477497, 49481399, 49484824-49484830, 49486086-49486091, 49488740-49488750, 49488856-49488859, 49489281-49489282, 49494559-49494573, 49494619-49494633, 49494644-49494655, 49494668, 49494679-49494734, 49496252-49496265, 49496275-49496331, 49496346-49496369
514MED25190.88413547237077260224450321599-50321634, 50321698, 50321701, 50321707-50321708, 50321842-50321867, 50322430-50322431, 50322527-50322553, 50332302, 50333137, 50333140-50333159, 50333431-50333437, 50333776-50333784, 50334077-50334079, 50334083, 50334132, 50335392-50335409, 50338399-50338404, 50338428-50338434, 50338791-50338793, 50338798, 50338806-50338829, 50339030-50339044, 50339187-50339194, 50339200-50339202, 50339483-50339492, 50339548, 50339589-50339594, 50339650-50339655, 50340131-50340139, 50340180-50340184
515PNKP190.9910600255427814156650365648-50365656, 50370348-50370352
516MYH14190.97332678775978163611150753772-50753786, 50755972-50755991, 50758495-50758503, 50762418, 50764732-50764764, 50764859-50764871, 50764879-50764892, 50766589-50766595, 50766621-50766655, 50770215, 50770222-50770225, 50795560-50795570
517KCNC3190.51275285839931108227450823503-50823591, 50823601-50823606, 50823851, 50823864-50823880, 50823973-50823975, 50824004-50824027, 50824036-50824041, 50826234-50826269, 50826279, 50826299-50826304, 50826318-50826398, 50826409-50826411, 50826452-50826481, 50826544-50826571, 50826593-50826647, 50826688-50826710, 50826740-50826764, 50826854-50826857, 50826985-50827012, 50827081-50827092, 50827124-50827133, 50827154-50827197, 50831502-50831517, 50831576-50831596, 50831661-50831697, 50831730-50831745, 50831778-50831809, 50831820-50831847, 50831855-50831913, 50831927, 50831930-50831932, 50831935-50832049, 50832065, 50832078-50832113, 50832129-50832339
518KLK4190.98431372549021276551411888-51411894, 51412006-51412009, 51412666
519ETFB190.9673390970220934104151857404-51857427, 51857579-51857586, 51857651, 51857776
520NLRP12190.623979912115511198318654297305-54297337, 54297361-54297390, 54299113, 54299151-54299167, 54299175-54299213, 54299253-54299254, 54301497-54301516, 54301533-54301548, 54301617-54301638, 54301662-54301667, 54304482-54304552, 54304573-54304651, 54307225, 54307235, 54307240, 54307248, 54307251, 54307263-54307273, 54307280-54307298, 54307353-54307376, 54308551, 54308554, 54308633-54308668, 54308673-54308689, 54310779-54310796, 54310813, 54310829-54310838, 54310843-54310847, 54310863, 54312841-54312869, 54312886, 54312941-54312986, 54313036-54313045, 54313065, 54313069-54313107, 54313131, 54313142-54313144, 54313168-54313206, 54313277, 54313282, 54313318-54313358, 54313386-54313392, 54313398-54313404, 54313409-54313410, 54313415, 54313433-54313460, 54313483-54313487, 54313494-54313527, 54313549, 54313562, 54313586-54313631, 54313641-54313644, 54313654-54313683, 54313693-54313701, 54313744, 54313756, 54313810-54313824, 54313852-54313875, 54313906-54313942, 54313980, 54313983-54313994, 54314022-54314033, 54314079-54314126, 54314143-54314175, 54314226-54314229, 54314252-54314253, 54314256, 54314277-54314310, 54314339-54314377, 54314383-54314388, 54314394-54314395, 54314420-54314428, 54314431-54314434, 54314439-54314440, 54314504, 54314513-54314519, 54318178-54318202, 54327175-54327180
521PRKCG190.86723973256925278209454385819-54385820, 54385824, 54385827, 54385897-54385906, 54385910, 54386425-54386427, 54392990-54392996, 54393244-54393249, 54401238-54401251, 54401254, 54401271, 54401319-54401332, 54401734-54401771, 54401776-54401780, 54401799, 54401841-54401879, 54403899-54403902, 54403975-54403981, 54409571-54409581, 54409618-54409642, 54409684, 54409961-54410000, 54410061-54410100, 54410144-54410149
522PRPF31190.44933333333333826150054621662-54621666, 54621675, 54621678-54621714, 54621755-54621756, 54621968-54621992, 54625239-54625265, 54625293-54625322, 54625901-54625902, 54625934-54625973, 54626879-54626880, 54626883-54626890, 54626893-54626906, 54627128-54627157, 54627207-54627214, 54627285, 54627886-54627973, 54629934-54629979, 54631448-54631535, 54631552-54631564, 54631574, 54631692-54631730, 54631737-54631752, 54632432-54632498, 54632515-54632530, 54632549-54632560, 54632647-54632697, 54632703-54632745, 54634738-54634806, 54634819-54634863
523NLRP7190.9816955684007757311455445000-55445003, 55445044-55445056, 55447666-55447672, 55447678, 55450834-55450840, 55451232, 55452824-55452847
524TNNT1190.7820025348542517278955644283-55644303, 55644323-55644328, 55645255-55645295, 55645434-55645440, 55645463-55645464, 55645475, 55645485-55645504, 55645511-55645524, 55648471, 55648497-55648509, 55652251, 55652262, 55652275-55652309, 55652314-55652316, 55652327, 55652623-55652627
525TNNI3190.9359605911333960955665539-55665558, 55666148, 55666152-55666157, 55667677-55667687, 55668456
526AURKC190.9989247311828193057744907
527TPO20.8850820842255532228021481231, 1481259-1481282, 1488381-1488388, 1488543, 1488595-1488601, 1491646, 1497656, 1497661, 1497720-1497735, 1497752, 1497761-1497763, 1497803, 1499801, 1499841-1499858, 1520663, 1520668-1520737, 1544366-1544495, 1546201-1546227, 1546235-1546244
528KLF1120.9694606887589347153910183844-10183885, 10188059-10188062, 10188185
529MYCN20.90465949820789133139516082187-16082191, 16082292-16082324, 16082389-16082405, 16082533-16082549, 16082647-16082666, 16082916-16082932, 16082965-16082975, 16085840-16085852
530APOB20.99664037394099461369221225082-21225085, 21225093, 21266771-21266811
531POMC20.944029850746274580425384161-25384167, 25384430-25384438, 25384452-25384480
532HADHA20.996945898778367229226414415-26414421
533OTOF20.640640640640642154599426687794, 26687881, 26688850-26688853, 26689656, 26689682, 26691277-26691278, 26691287, 26693461-26693498, 26693554-26693556, 26693569, 26693990-26694006, 26695387-26695443, 26695460-26695517, 26696000-26696028, 26696066-26696072, 26696108, 26696134-26696162, 26696274-26696286, 26696309-26696320, 26696341, 26696349-26696351, 26696387-26696395, 26696888-26696953, 26696964-26696969, 26696978, 26697381-26697542, 26698227-26698289, 26698307-26698361, 26698782-26698818, 26698844-26698906, 26698996-26699013, 26699026-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700617, 26702132-26702222, 26702245-26702252, 26702341-26702392, 26702417-26702521, 26703071-26703076, 26703114-26703125, 26703144-26703179, 26703654-26703658, 26703668-26703695, 26703716-26703771, 26703795-26703877, 26705274-26705298, 26705322-26705416, 26705430-26705460, 26706330-26706337, 26706379, 26706397-26706401, 26706425, 26706428-26706439, 26706493, 26706496, 26706511-26706516, 26707342-26707348, 26707387-26707406, 26707492-26707501, 26712136-26712162, 26712562-26712574, 26712598-26712608, 26739423, 26741896-26741909, 26741961
534EIF2B420.9785539215686335163227592298-27592311, 27592342-27592359, 27592860-27592862
535C2orf7120.9968968192397212386729293652-29293653, 29295446-29295454, 29295578
536ALK20.998766193707596486330143485-30143488, 30143499-30143500
537XDH20.999250374812593400231572552-31572554
538SPAST20.9556996218260482185132288974-32288980, 32288998-32289039, 32289077, 32289173-32289187, 32289218-32289220, 32289223, 32289282, 32289297-32289299, 32289312-32289315, 32312615, 32362190-32362192, 32367007
539CYP1B120.9613970588235363163238301498-38301504, 38301987-38301994, 38302122-38302127, 38302206, 38302262, 38302408-38302441, 38302518-38302520, 38302525-38302527
540SOS120.9932533733133427400239222399, 39224398-39224406, 39281931, 39285814-39285825, 39285898-39285901
541ABCG820.89268051434224217202244099115-44099142, 44099195-44099219, 44099222-44099235, 44099254-44099272, 44099386-44099391, 44099410, 44099423, 44099428-44099445, 44100961-44101015, 44101039-44101055, 44101097-44101099, 44101120-44101125, 44101579-44101590, 44102475-44102484, 44102489, 44102526
542SIX320.996996996997399945169641-45169643
543EPCAM20.987301587301591294547596645, 47601043-47601046, 47601124-47601125, 47606185, 47606189, 47607007-47607009
544MSH220.9793226381461758280547630497-47630521, 47639649-47639652, 47698189-47698201, 47710017-47710032
545MSH620.96154788145971157408348010373-48010374, 48010377, 48010380, 48010439-48010462, 48010474-48010566, 48010578-48010584, 48010587-48010588, 48010594, 48010608-48010632, 48023144
546LHCGR20.9938095238095213210048982759-48982771
547NRXN120.999096045197744442550318566-50318569
548EFEMP120.999325236167341148256094285
549ATP6V1B120.999351491569391154271163086
550DYSF20.97232704402516176636071797051-71797053, 71801343, 71801346, 71801358, 71801420-71801422, 71801431, 71825704-71825745, 71825787-71825836, 71827888, 71827920-71827922, 71827930, 71829906-71829931, 71838657, 71838679-71838688, 71839789, 71839874-71839880, 71847698-71847721
551SPR20.98854961832061978673114792-73114798, 73114852-73114853
552ALMS120.991362763915551081250473676801, 73677054, 73679556-73679587, 73679714-73679715, 73679720-73679726, 73679816-73679849, 73679873, 73680110, 73680280-73680289, 73680526-73680535, 73680865, 73827996-73828002, 73828342
553MOGS20.973349244232367251474688417, 74689001-74689015, 74689393-74689404, 74689598, 74691780-74691781, 74692267, 74692340-74692374
554HTRA220.994190268700078137774757247-74757254
555GGCX20.996925779534487227785786067-85786068, 85788521-85788524, 85788527
556SFTPB20.9746945898778429114685889197-85889198, 85895264-85895266, 85895276-85895299
557EIF2AK320.997314234556859335188926730-88926735, 88926775-88926777
558TMEM12720.903765690376576971796919622-96919626, 96930890-96930899, 96930979-96931000, 96931047-96931052, 96931080-96931105
559SNRNP20020.99984401809391641196955067
560ZAP7020.9849462365591428186098340543-98340548, 98340742-98340757, 98340846, 98340858-98340859, 98340863-98340865
561CNGA320.999520383693051208598996803
562RANBP220.8697674418604712609675109336063-109336076, 109336113-109336134, 109345588-109345601, 109347230-109347254, 109347853-109347894, 109351988-109351995, 109352018-109352065, 109352075-109352123, 109352142, 109352188, 109352609, 109352686-109352705, 109356950-109356975, 109357011-109357012, 109357042-109357094, 109357110-109357116, 109363186, 109363251-109363254, 109365409-109365437, 109365448-109365468, 109367720-109367734, 109367841-109367878, 109367896-109367901, 109367988, 109367991, 109368031, 109368074-109368110, 109368355-109368387, 109368427-109368450, 109369545-109369546, 109369549, 109369595, 109369599, 109369896-109369921, 109369929-109369969, 109370317-109370363, 109371385-109371409, 109371498, 109371509, 109371632-109371633, 109374940-109374983, 109378557-109378564, 109379799, 109379802, 109379807, 109379883-109379885, 109381269, 109381714, 109382303, 109382306-109382308, 109382622-109382641, 109382700-109382706, 109382937-109382969, 109383051-109383058, 109383084-109383114, 109383135-109383143, 109383268-109383301, 109383315-109383362, 109383541, 109383560, 109383739-109383780, 109383825, 109383882-109383916, 109383960-109383986, 109384167, 109384199-109384243, 109384285-109384307, 109384393-109384493, 109384609-109384634, 109384785-109384793, 109384803, 109398727
563MERTK20.98933333333333323000112656316-112656346, 112686943
564PAX820.9977827050997831353113992997, 113994192-113994193
565GLI220.910522999369884264761121555031, 121708862, 121708959-121708974, 121709001, 121709019, 121726290-121726299, 121727981-121728017, 121728039-121728045, 121728107-121728119, 121728132, 121728153-121728174, 121729589-121729595, 121729636-121729639, 121745830-121745840, 121746136-121746156, 121746172-121746175, 121746295-121746300, 121746327-121746358, 121746385-121746388, 121746543-121746581, 121746681, 121746742-121746762, 121746813-121746859, 121747021-121747029, 121747181-121747187, 121747193-121747195, 121747274-121747280, 121747330-121747371, 121747666-121747671, 121747835-121747863, 121747912, 121748042-121748055, 121748216
566BIN120.95959595959596721782127806121-127806124, 127808025-127808028, 127808047-127808052, 127808468, 127815089, 127815092, 127825739-127825753, 127827639, 127828198, 127828206, 127834223-127834230, 127864436-127864446, 127864489-127864506
567PROC20.95382395382395641386128180628-128180630, 128180633, 128180674-128180728, 128184681-128184685
568CFC120.56845238095238290672131279058-131279062, 131279077, 131279405-131279434, 131279598-131279636, 131279668, 131279671, 131279681, 131279688, 131280363-131280410, 131280428-131280465, 131280742-131280755, 131280775-131280781, 131280798-131280815, 131280821, 131280825, 131285269-131285275, 131285285, 131285315-131285321, 131285330-131285368, 131285383-131285412
569RAB3GAP120.99456890699253162946135848573, 135848656, 135848663-135848676
570MCM620.9983779399837842466136615501-136615504
571NEB20.998047461700213919974152375513-152375514, 152432675-152432680, 152432718-152432726, 152432729-152432742, 152432837-152432842, 152470881, 152486061
572SCN2A20.99451645064806336018166188009, 166231326, 166237149-166237151, 166237623-166237650
573GALNT320.98107255520505361902166611508, 166621507-166621532, 166627162-166627170
574SCN1A20.9933299983325405997166892788, 166892969-166892971, 166901778-166901784, 166903475, 166908287-166908313, 166929946
575ABCB1120.9979828542612283966169783756-169783763
576ITGA620.98992673992674333276173292517-173292549
577CHRNA120.97234352256186381374175613321-175613336, 175618414-175618433, 175619011, 175622297
578CHN120.9985507246376821380175742621-175742622
579HOXD1320.97093023255814301032176957727-176957741, 176957769-176957772, 176957806-176957810, 176957970-176957973, 176958041, 176958277
580AGPS20.9994941831057211977178346817
581PRKRA20.9055201698513889942179296845-179296846, 179301027, 179306341-179306356, 179308000-179308048, 179308080-179308084, 179312255-179312262, 179314982-179314989
582DFNB5920.94711992445703561059179318137-179318138, 179318311-179318326, 179319061-179319075, 179319084-179319094, 179319226-179319227, 179319237, 179320777-179320779, 179320817, 179325160-179325164
583TTN20.9995710637618743100248179402325-179402326, 179433953-179433959, 179434185, 179434711-179434713, 179437979-179437982, 179438006, 179438009-179438013, 179443391-179443396, 179458372-179458381, 179501400, 179648918-179648920
584CERKL20.896185115697311661599182468579-182468659, 182468680-182468714, 182468748-182468797
585COL3A120.99568279936378194401189854122-189854125, 189871663-189871664, 189872612-189872624
586PMS120.997856377277662799190719138-190719143
587STAT120.99467376830892122253191859841, 191859845, 191859871-191859880
588HSPD120.96225319396051651722198351835-198351874, 198352602-198352603, 198352710-198352717, 198353131-198353143, 198353147, 198361937
589CASP1020.999362651370311569202050707
590CASP820.9962894248608561617202149663-202149666, 202149670-202149671
591ALS220.9997989545637314974202593332
592BMPR220.9974334295797283117203332344-203332348, 203378526-203378528
593NDUFS120.9972527472527562184207011701-207011706
594FASTKD220.998593530239132133207631630, 207631634-207631635
595ACADL20.9922660479505101293211085395-211085402, 211085470-211085471
596ABCA1220.9997431946584527788215823170, 215854179
597PNKD20.9974093264248731158219204839, 219206280, 219206791
598WNT10A20.905901116427431181254219745718-219745719, 219745752, 219745784, 219745805-219745808, 219757516-219757555, 219757564-219757608, 219757846-219757869, 219757874
599DES20.9936305732484191413220283254, 220283259-220283260, 220283267, 220283707-220283711
600OBSL120.934282199964863745691220416251-220416262, 220416300-220416303, 220416834-220416840, 220416853-220416872, 220416874-220416878, 220417301-220417338, 220417379-220417382, 220417392, 220417412-220417415, 220417666-220417686, 220420848-220420849, 220427192, 220431658, 220435355, 220435380-220435387, 220435506, 220435509-220435516, 220435518, 220435528, 220435636-220435678, 220435698-220435771, 220435787-220435818, 220435837-220435863, 220435897-220435954
601COL4A420.9994075829383935064227967562-227967564
602COL4A320.9996010373030125013228159680, 228163427
603SLC19A320.9939637826961891491228563533-228563536, 228564002-228564006
604CHRND20.885456885456891781554233390927-233390931, 233390955-233390960, 233391254-233391260, 233393061-233393063, 233393072, 233393341-233393346, 233393654-233393657, 233393662, 233394649-233394660, 233394664-233394665, 233394697-233394698, 233394766-233394812, 233396120-233396124, 233396127-233396139, 233396297-233396306, 233396338-233396354, 233398645-233398652, 233398720, 233398723, 233398757-233398769, 233398816-233398819, 233398977-233398980, 233398990, 233399010, 233399840, 233399908-233399909, 233399917
605CHRNG20.935649935649941001554233404711, 233404807-233404831, 233405131-233405135, 233406131, 233406134-233406138, 233406180-233406185, 233407180-233407182, 233409098-233409103, 233409162, 233409235-233409236, 233409239-233409240, 233409531-233409539, 233409602-233409612, 233410253, 233410322-233410342, 233410350
606COL6A320.9996853366897439534238244864-238244866
607AGXT20.672603901611543861179241808283-241808319, 241808347-241808429, 241808587-241808601, 241808653-241808663, 241808701-241808709, 241808763-241808779, 241810064-241810125, 241810783-241810822, 241810849-241810861, 241812396-241812397, 241813404-241813429, 241815357-241815368, 241815391-241815392, 241815395-241815401, 241816976-241817011, 241817460-241817473
608D2HGDH20.479565772669228151566242674640-242674664, 242674679, 242674724-242674765, 242674789-242674802, 242674817-242674822, 242674825, 242674831-242674833, 242674865-242674874, 242680448-242680459, 242680486-242680502, 242681940-242681950, 242684143, 242689577-242689709, 242690661-242690724, 242690731-242690745, 242690760-242690793, 242695264-242695429, 242707125-242707384
609C20orf54200.97730496453901321410741854-741862, 744529-744548, 745977, 746001-746002
610AVP200.654545454545451714953063276-3063280, 3063288-3063296, 3063311-3063409, 3063417-3063431, 3063438-3063448, 3063633-3063640, 3063655-3063667, 3063692-3063695, 3063719-3063724, 3063727
611PANK2200.99883245767659217133888847, 3891347
612FERMT1200.99950835791544120346088206
613MKKS200.9854057209573825171310386059, 10389350-10389364, 10389402-10389409, 10393946
614JAG1200.9961717254580314365710653349-10653351, 10653457-10653458, 10653617-10653624, 10654177
615C20orf7200.994219653179196103813782264-13782269
616THBD200.984953703703726172823028661, 23029471, 23029498, 23029525, 23029588, 23029592-23029594, 23029600-23029609, 23030056-23030063
617SNTA1200.89591567852437158151832000218-32000232, 32000381-32000389, 32000423-32000425, 32000447-32000456, 32031164-32031184, 32031203-32031225, 32031260-32031266, 32031298-32031330, 32031390-32031426
618GSS200.997192982456144142533523419, 33524821, 33533854-33533855
619GDF5200.9893758300132816150634025166-34025174, 34025279-34025285
620SAMHD1200.9920255183413115188135526241, 35526312, 35526360, 35547828-35547835, 35563536, 35579852-35579854
621HNF4A200.9354385964912392142543052733-43052740, 43052764-43052799, 43052817-43052848, 43052879-43052894
622ADA200.992673992673998109243255155-43255156, 43257762-43257767
623CTSA200.9525718102872471149744520238-44520243, 44520334-44520341, 44520366-44520375, 44520386, 44520569-44520575, 44521930-44521938, 44522632-44522635, 44523337-44523349, 44523633-44523642, 44526390-44526391, 44526734
624CD40200.9916067146283783444756857-44756863
625SLC2A10200.999384993849941162645354888
626DPM1200.99489144316731478349557418-49557419, 49562451, 49571738
627SALL4200.9949399114484516316250401052-50401054, 50407124-50407125, 50407772-50407773, 50408341-50408348, 50408351
628VAPB200.99180327868852673257014073, 57014076-57014080
629STX16200.99897750511247197857246312
630GNAS200.947154471544723973857415187-57415199, 57415329-57415335, 57415389-57415393, 57415483-57415489, 57415667-57415673
631GNAS200.92774566473988225311457428681-57428685, 57428945-57428968, 57429067-57429075, 57429116-57429147, 57429208-57429222, 57429251, 57429273, 57429445-57429483, 57429497, 57429500-57429502, 57429575, 57429622-57429663, 57429688-57429699, 57429740-57429746, 57429788-57429791, 57429938-57429945, 57430031, 57430035-57430047, 57430239-57430245
632COL9A3200.489051094890511050205561448417-61448494, 61448919-61448987, 61449870-61449894, 61450588-61450645, 61451285-61451301, 61451310-61451311, 61452533-61452550, 61452558-61452568, 61452861-61452872, 61453109-61453162, 61453492-61453496, 61453505-61453516, 61453967-61453984, 61455797-61455853, 61456320-61456373, 61457169-61457222, 61457556-61457561, 61457586-61457609, 61458119-61458172, 61458593-61458628, 61458634, 61459280, 61459316-61459328, 61460129-61460167, 61460275-61460289, 61460297-61460328, 61460807-61460810, 61460831-61460851, 61460980-61460985, 61461009-61461033, 61461118-61461125, 61461157-61461171, 61461712-61461751, 61461761-61461765, 61461869-61461939, 61463520-61463532, 61464405-61464414, 61467273-61467278, 61467302-61467305, 61467558-61467559, 61467562-61467568, 61467625, 61467830-61467836, 61467873, 61468444-61468450, 61468478-61468480, 61468490, 61468504-61468508, 61468580-61468602
633CHRNA4200.0127388535031851860188461978090-61978215, 61981005-61982312, 61982337-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
634KCNQ2200.345169912180221715261962037997-62038042, 62038046, 62038050-62038059, 62038067-62038073, 62038079-62038143, 62038155, 62038187-62038198, 62038201-62038214, 62038222-62038274, 62038280-62038320, 62038337-62038373, 62038394, 62038401, 62038407-62038469, 62038471-62038485, 62038498, 62038502-62038537, 62038563-62038648, 62038669-62038701, 62038719-62038728, 62039767, 62039773, 62039785, 62039795, 62039801, 62039806-62039809, 62044816-62044826, 62044829, 62044856-62044858, 62044898, 62044907-62044909, 62044912, 62044925-62044927, 62045441-62045443, 62045449, 62045484, 62045505-62045524, 62045545, 62046271-62046287, 62046300, 62046304, 62046332-62046338, 62046376-62046393, 62046402-62046428, 62046437, 62051000-62051007, 62051022, 62055535-62055537, 62059730-62059733, 62059741-62059768, 62059780-62059788, 62062693-62062696, 62065162-62065171, 62065197, 62069978-62070011, 62070028-62070050, 62070072-62070073, 62070951-62071061, 62073759-62073884, 62076012-62076187, 62076591-62076717, 62078102-62078190, 62103521-62103816
635SOX18200.113419913419911024115562679519-62679571, 62679581-62679598, 62679621-62679638, 62679641-62679642, 62679650-62679704, 62679720-62679758, 62679772-62679811, 62679822-62679824, 62679838-62679847, 62679850-62679876, 62679880, 62679883-62679987, 62679995-62680213, 62680240-62680315, 62680512-62680869
636APP210.9822741028966741231327394181-27394182, 27542888-27542926
637IFNGR2210.9280078895463573101434775850-34775922
638RCAN1210.967061923583662575935987189-35987196, 35987244-35987260
639RUNX1210.9951489951497144336171605-36171611
640CLDN14210.919444444444445872037833280-37833291, 37833481-37833482, 37833486, 37833533-37833538, 37833779, 37833783-37833793, 37833823-37833847
641TMPRSS3210.90769230769231126136543795827-43795884, 43796695-43796701, 43796767-43796770, 43802245-43802256, 43803240-43803250, 43805539-43805552, 43805624-43805643
642CBS210.93357487922705110165644474089-44474093, 44476913-44476916, 44476963-44476970, 44476983-44476997, 44478356-44478363, 44478974-44479002, 44479071, 44479336-44479352, 44483173-44483178, 44488654-44488663, 44488698-44488701, 44492150, 44492153-44492154
643AIRE210.128815628815631427163845705890-45705956, 45705966-45706005, 45706014-45706021, 45706440-45706487, 45706494-45706507, 45706510-45706514, 45706533, 45706554, 45706579-45706614, 45706861-45706872, 45706917-45707016, 45707404-45707474, 45708228-45708284, 45708291-45708331, 45709540-45709552, 45709565-45709680, 45709871-45709951, 45710978-45710980, 45710987-45711021, 45711028-45711093, 45712185-45712283, 45712876-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717545, 45717559-45717593
644ITGB2210.92857142857143165231046308622-46308646, 46308652, 46308677-46308690, 46308701, 46308717-46308720, 46308724-46308733, 46308742-46308749, 46308778-46308797, 46309192-46309203, 46309333-46309339, 46309935-46309940, 46310008-46310022, 46310030, 46311742, 46311748-46311750, 46311754-46311764, 46311883-46311907, 46313369
645COL18A1210.386704653371323229526546875458-46875475, 46875483, 46875490-46875492, 46875509-46875511, 46875603-46875605, 46875618-46875621, 46875687-46875697, 46875707, 46875748-46875781, 46875809-46875834, 46875857-46875861, 46875864-46875865, 46875881, 46875908-46875922, 46875932, 46875936-46875948, 46875960, 46876050-46876052, 46876060-46876078, 46876095-46876137, 46876173, 46876194-46876201, 46876233, 46876247, 46876282, 46876312-46876339, 46876401-46876421, 46876444-46876461, 46876491-46876504, 46876513, 46876517, 46876528-46876536, 46876541, 46876552-46876554, 46876556-46876573, 46876580, 46876591-46876702, 46876785, 46876788-46876795, 46888156-46888164, 46888170-46888287, 46888303-46888332, 46888380-46888391, 46888396, 46888406-46888407, 46888412-46888415, 46888418, 46888434-46888446, 46888461-46888470, 46888503-46888504, 46888518-46888565, 46888579-46888617, 46888627, 46888633, 46888636, 46888647-46888686, 46888697-46888700, 46893861-46893888, 46895412-46895427, 46895445-46895449, 46896303, 46896312, 46896315-46896372, 46896392-46896394, 46897339-46897350, 46897353, 46897360, 46897705-46897719, 46897862, 46899816-46899821, 46899860-46899878, 46900016, 46900019, 46900046, 46900067, 46900403-46900427, 46900634-46900640, 46900668-46900704, 46906775-46906906, 46907375-46907423, 46908352-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924340, 46924356-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929272, 46929282-46929384, 46929401-46929414, 46929432-46929442, 46929455-46929515, 46929978-46930078, 46930095-46930175, 46931025-46931140, 46932102-46932312
646COL6A1210.594428247489471252308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406508, 47406534-47406537, 47406550-47406585, 47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47409004-47409051, 47409522-47409566, 47409666-47409668, 47410172-47410198, 47410295-47410298, 47410317-47410318, 47410323, 47410737-47410740, 47410901-47410920, 47410939-47410955, 47411924-47411940, 47411956-47411986, 47412662-47412674, 47414085-47414089, 47414102, 47414140-47414143, 47417344-47417349, 47417378, 47417614-47417617, 47417620-47417637, 47417649-47417665, 47418035, 47418038-47418049, 47418056-47418085, 47418312-47418313, 47418842-47418849, 47418856, 47418861, 47419067-47419132, 47419571-47419581, 47419593-47419606, 47420245-47420281, 47421942-47421945, 47422132-47422139, 47422538-47422546, 47423316, 47423469-47423472, 47423509
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700LAMB230.756901982582921312539749158735-49158755, 49158766, 49158777-49158781, 49158788-49158789, 49158792-49158795, 49158945, 49158979-49158993, 49159021-49159023, 49159117-49159121, 49159246, 49159257, 49159418, 49159443-49159462, 49159492, 49159497, 49159623-49159638, 49159681-49159697, 49159736-49159739, 49160209, 49160257-49160283, 49160292-49160306, 49160308-49160317, 49160336-49160339, 49160366-49160413, 49160441-49160477, 49160570-49160578, 49160583-49160584, 49160596, 49160609, 49160644-49160680, 49160689-49160693, 49160698-49160700, 49160762-49160775, 49160908, 49160911-49160914, 49160984-49160995, 49161042-49161062, 49161173-49161181, 49161381-49161404, 49161446-49161462, 49161493-49161498, 49161515-49161529, 49161643-49161645, 49161650, 49161660, 49161684-49161685, 49161689, 49161702-49161703, 49161707, 49161714, 49161835-49161853, 49161869-49161917, 49161945, 49161966-49162014, 49162134-49162139, 49162145-49162147, 49162153, 49162158, 49162193-49162207, 49162211-49162214, 49162236-49162242, 49162281-49162285, 49162318-49162349, 49162442-49162495, 49162518-49162556, 49162577-49162602, 49162686-49162690, 49162697-49162720, 49162738-49162779, 49162791-49162797, 49162809-49162838, 49162845-49162882, 49162912-49162917, 49163223-49163224, 49163264-49163295, 49163303-49163315, 49163318-49163322, 49163416, 49165892-49165896, 49165907-49165914, 49165934-49165936, 49165947-49165960, 49166149, 49166240-49166249, 49166456, 49166475, 49166493, 49166506, 49167070, 49167104-49167109, 49167306-49167409, 49167434-49167449, 49167678-49167694, 49167711-49167712, 49167781, 49167793-49167802, 49167806-49167809, 49167843-49167852, 49168173-49168198, 49168395-49168398, 49168402-49168409, 49168419, 49168492-49168495, 49168555-49168561, 49168812-49168817, 49168847-49168850, 49168968, 49168999-49169017, 49169112-49169139, 49169621, 49169723-49169726, 49169962-49169963, 49169990-49169995, 49170095-49170096, 49170242, 49170257, 49170291
701AMT30.9645214521452143121249455028-49455034, 49456489-49456490, 49456723-49456724, 49457165-49457166, 49457735-49457757, 49459874-49459880
702GNAT130.9553656220322947105350230594, 50230597, 50231252, 50231260, 50231284-50231285, 50231546-50231578, 50232010, 50232342-50232347, 50232354
703HYAL130.72324159021407362130850337914-50337928, 50337945-50337959, 50338049, 50338053-50338064, 50338094-50338135, 50338142-50338158, 50338191, 50338200-50338231, 50338436-50338508, 50339519-50339535, 50339576, 50339597, 50339601-50339621, 50339643, 50339705-50339706, 50339766-50339768, 50339838-50339845, 50339862-50339895, 50339925, 50339964-50339986, 50340016-50340030, 50340155, 50340252-50340276, 50340288
704TNNC130.98353909465021848652485816-52485818, 52486221-52486225
705RFT130.998769987699882162653153929-53153930
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707FLNB30.991804328339164780957994431-57994437, 57994558-57994565, 58089718-58089720, 58092471-58092473, 58107151, 58109394, 58133986-58134009, 58134014, 58134058-58134060, 58134067-58134070, 58134537, 58139239-58139242, 58139287, 58139292, 58139355, 58141720
708PDHB30.999074074074071108058416410
709ATXN730.92529950669486212283863898299-63898321, 63898366-63898371, 63898390, 63898393-63898534, 63898543-63898565, 63898575-63898591
710PROS130.999015263417042203193611950, 93611954
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713CASR30.9987642879209143237122002783-122002786
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715GP930.996254681647942534128780621-128780622
716RHO30.9933142311365871047129251401-129251402, 129251446-129251448, 129251459, 129251494
717ATP2C130.9985964912280742850130694287, 130715617, 130716544-130716545
718NPHP330.99474079639369213993132409380-132409387, 132438642-132438649, 132441157-132441161
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720PLOD230.9995608256477812277145841987
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723DNAJC1930.9971509971511351180705998
724MCCC130.99357208448118142178182804502-182804505, 182804513, 182804521-182804529
725KLHL630.999464094319411866183211873
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729OPA130.99146981627297263048193354984-193354995, 193355043-193355055, 193363414
730CPN230.850427350427352451638194061808-194061850, 194061864-194061885, 194061899, 194061903, 194061906-194061916, 194061945, 194061949-194061962, 194062095-194062101, 194062155-194062198, 194062254-194062263, 194062290-194062296, 194062374-194062409, 194062525, 194062530, 194062610-194062614, 194062689-194062695, 194062698-194062701, 194062755-194062756, 194062759-194062765, 194062866-194062871, 194062875, 194062885-194062887, 194063133-194063138, 194063153, 194063262, 194063265, 194063373-194063374
731PDE6B40.4218323586744614832565619441-619449, 619512-619515, 619525-619528, 619533, 619542-619555, 619594, 619597, 619615, 619696, 619735, 619738-619746, 619788, 619835, 629718, 647641-647715, 647722-647781, 647869-647943, 648613-648670, 649729-649795, 650044-650081, 650663-650666, 650680-650745, 650760-650775, 650787, 650800-650812, 651140-651194, 651200-651283, 652741-652801, 654256-654332, 654349-654401, 655923-655952, 655971-656016, 656023-656030, 656298-656340, 656349, 656353, 656357-656403, 656889-656909, 656927-656976, 657560-657564, 657578, 657587, 657593-657659, 657903-657919, 657961-657963, 657994-657995, 658007-658009, 658670-658699, 659064-659095, 659101-659118, 660320-660402, 661662-661665, 661695-661708, 661736-661738, 661741-661753, 661768-661769, 661772-661795, 663835-663896
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734SH3BP240.8691437802907924318572819969-2819981, 2820058-2820068, 2820093, 2820095-2820100, 2826435-2826441, 2826444, 2831376, 2831383-2831399, 2831446-2831449, 2831465, 2831509-2831548, 2831576-2831578, 2831616-2831617, 2831709, 2831811-2831856, 2833675, 2834083-2834134, 2834717-2834733, 2834738, 2835469-2835472, 2835517-2835526, 2835558-2835561
735HTT40.9729557747375125594293076590-3076595, 3076604-3076606, 3076609-3076665, 3076679-3076683, 3076688-3076691, 3076707-3076743, 3076765-3076793, 3076803-3076815, 3182361-3182370, 3227408-3227411, 3234919-3234923, 3234929-3234971, 3235068, 3240247-3240250, 3240547-3240557, 3240599, 3240602, 3241578-3241595, 3241656-3241658
736DOK740.24158415841584114915153465103-3465156, 3465233-3465258, 3465272-3465278, 3475134-3475179, 3475247-3475275, 3475287-3475305, 3475308-3475312, 3478069-3478106, 3478128-3478269, 3487269-3487300, 3487321-3487354, 3487378-3487385, 3491455-3491457, 3491478-3491494, 3491504, 3494486-3494562, 3494578-3494655, 3494679-3494944, 3494953-3495149, 3495159-3495228
737DOK740.0778341793570225455913494489-3494562, 3494578-3494655, 3494679-3494944, 3494953-3495079
738EVC240.996180290297941539275570268-5570271, 5570274-5570282, 5710232-5710233
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740WFS140.9479985035540613926736279183-6279190, 6279270-6279282, 6279373-6279374, 6279397-6279414, 6292954-6292999, 6293049-6293093, 6293693-6293699
741SLC2A940.979667282809613316239998425-9998433, 9998493, 9998502-9998524
742PROM140.999230177059282259815981042-15981043
743CNGA140.9934210526315815228047954625-47954627, 47954702-47954713
744PDGFRA40.995412844036715327055127513-55127518, 55138568-55138569, 55138595-55138599, 55138668-55138669
745COQ240.99740259740263115584205903-84205905
746CDS140.9985569985572138685530650-85530651
747DMP140.993975903614469149488583981-88583989
748PKD240.9910560715514326290788928892-88928905, 88928968-88928970, 88928990, 88928996-88929003
749MTTP40.98696461824953352685100512397, 100515951-100515984
750CISD240.9215686274509832408103806536-103806537, 103808512-103808522, 103808569-103808587
751TACR340.9992846924177411398104512737
752CFI40.9977168949771741752110723112, 110723115-110723117
753ANK240.99941047667172711874114158308-114158313, 114274621
754BBS740.9967411545623872148122749420-122749424, 122749774-122749775
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757FGB40.99051490514905141476155484201-155484214
758GLRB40.98326639892905251494158041708-158041709, 158041756, 158041760, 158041768-158041783, 158041800-158041804
759ETFDH40.9951456310679691854159627945-159627953
760GK40.9993983152827911662166199345
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762SLC6A1950.41994750656168110519051201766-1201967, 1208861-1209001, 1210559-1210604, 1210626-1210666, 1212424, 1212480-1212487, 1212495-1212548, 1212559-1212576, 1213578-1213688, 1214068-1214069, 1214075-1214083, 1214093-1214125, 1214130-1214134, 1214138, 1214147-1214154, 1214161-1214180, 1216712-1216762, 1216775, 1216794-1216798, 1216801, 1216904-1216914, 1216940-1217000, 1217029-1217060, 1219023-1219026, 1219038, 1219053, 1219057-1219073, 1219100-1219117, 1219128-1219156, 1219175-1219190, 1219215-1219222, 1219620-1219636, 1219647-1219693, 1219703-1219729, 1219739-1219773, 1221270, 1221383-1221399, 1221426, 1221825, 1221932, 1221935, 1221951
763TERT50.23712856722565259333991253843, 1253846-1253872, 1253887, 1253892-1253894, 1253914, 1253922, 1253928-1253932, 1254487, 1254490-1254521, 1254529-1254543, 1254557-1254599, 1254609-1254620, 1255410-1255437, 1255493-1255515, 1258714-1258774, 1260589, 1260646-1260655, 1260686, 1260693, 1264519-1264527, 1264536-1264606, 1264625, 1264634-1264657, 1264677, 1264681-1264707, 1266579-1266628, 1266650, 1268635-1268748, 1271234-1271319, 1272300-1272395, 1278756-1278757, 1278763-1278767, 1278770-1278771, 1278802-1278911, 1279406-1279585, 1280273-1280453, 1282552-1282601, 1282622-1282661, 1282671, 1282674-1282692, 1282697, 1282717, 1282730-1282739, 1293441-1293454, 1293478, 1293492-1293527, 1293564-1293686, 1293707-1293847, 1293886-1293918, 1293938-1293991, 1294000-1294033, 1294048-1294067, 1294084-1294154, 1294167, 1294172-1294196, 1294214-1294223, 1294233-1294362, 1294401-1294411, 1294425-1294485, 1294496-1294518, 1294527-1294747, 1294754-1294781, 1294886-1295034, 1295047-1295104
764SLC6A350.5448201825013484818631403089-1403093, 1403096-1403102, 1406311-1406403, 1409141-1409240, 1409836-1409964, 1411358-1411470, 1414806-1414930, 1416213, 1416216, 1420684-1420818, 1421991-1422129
765SDHA50.96941896024465103271589402-1589408, 1594538-1594540
766NDUFS650.93333333333333253751801569-1801581, 1802439-1802450
767DNAH550.99834234234234231387513866004-13866006, 13916497-13916509, 13916515, 13916530-13916533, 13916541, 13916544
768FAM134B50.997322623828654149416616887, 16616973-16616975
769SLC1A350.999386126457951162936671221
770NIPBL50.9966726084373128841537022464, 37036552, 37036562-37036586, 37048757
771LIFR50.999089253187613329438502830-38502832
772ITGA250.998871968415124354652285334-52285337
773ERCC850.992443324937039119160194128, 60200640-60200647
774NDUFAF250.978431372549021151060394825-60394835
775MARVELD250.997614788312464167768728382, 68737477-68737479
776SMN250.98192090395481688569362946-69362961
777SMN250.98192090395481688570238370-70238385
778HEXB50.9700777977259150167173981106-73981151, 73985288-73985291
779RASA150.997137404580159314486670027-86670035
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951CEL90.745926904447385772271135937421, 135937429-135937430, 135939877-135939878, 135939881, 135940135, 135941919-135941923, 135944221, 135944557, 135946012-135946018, 135946402-135946410, 135946459-135946477, 135946525-135946527, 135946530-135946534, 135946558-135946638, 135946646-135947050, 135947057-135947061, 135947067, 135947077-135947085, 135947106-135947124
952SURF190.67774086378738291903136218768-136218772, 136218945-136218949, 136218953, 136218992-136218997, 136219372, 136219460-136219463, 136219614, 136220608, 136220628-136220638, 136220654-136220679, 136220692-136220717, 136220729-136220769, 136221514-136221524, 136221537, 136221573-136221590, 136221719-136221734, 136221760-136221770, 136223124-136223175, 136223276-136223329
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955SARDH90.700398984403348262757136529054, 136529059-136529063, 136529093-136529136, 136531879-136531897, 136531938-136531973, 136531989, 136535706-136535785, 136535808-136535874, 136536657-136536718, 136536731, 136536741-136536819, 136550315-136550321, 136550378-136550408, 136555506, 136555513, 136555532-136555548, 136555581-136555584, 136559380-136559423, 136559446-136559448, 136559460, 136559468-136559493, 136561362, 136561476-136561478, 136568039-136568104, 136570070-136570112, 136573409-136573418, 136573537-136573545, 136577742-136577744, 136577787-136577831, 136578174-136578245, 136582513-136582515, 136582520-136582534, 136582562-136582577, 136584141-136584146, 136599061-136599062, 136599255, 136599263
956COL5A190.6987493202827616625517137534044-137534121, 137534133, 137582758-137582901, 137582916-137582925, 137591755-137591968, 137593017-137593074, 137593095-137593179, 137619121, 137619176-137619182, 137620565-137620571, 137620587-137620630, 137620638-137620653, 137622190-137622229, 137623343-137623383, 137623405-137623450, 137623495-137623503, 137630320-137630354, 137642388-137642446, 137642456-137642460, 137642663-137642680, 137642691-137642728, 137644435-137644491, 137645696-137645738, 137646119-137646160, 137648611-137648652, 137653771-137653772, 137653785-137653807, 137653815, 137655546, 137655568-137655569, 137655572-137655583, 137657569-137657577, 137658300-137658305, 137659156-137659160, 137659176, 137659189-137659190, 137660256, 137660277-137660309, 137664636-137664654, 137666705-137666717, 137666758, 137671948-137671992, 137674515-137674521, 137674525-137674528, 137674535-137674546, 137674554-137674566, 137676840-137676883, 137676896-137676924, 137676928, 137676931-137676942, 137677846, 137677875-137677894, 137681011-137681029, 137688220-137688236, 137690298, 137693811, 137696858-137696872, 137696898-137696905, 137698043, 137698098-137698099, 137703341-137703347, 137703378-137703406, 137704327-137704333, 137705856-137705862, 137707448, 137709624-137709652, 137710547-137710560, 137710572-137710598, 137710899, 137712030-137712043, 137726881, 137726991-137726992
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958INPP5E90.579328165374688141935139324127, 139325500-139325535, 139325552, 139326276-139326310, 139326353-139326405, 139326959-139326968, 139326980-139326987, 139326998-139327022, 139327034, 139327439, 139327480, 139327492-139327510, 139327608-139327613, 139327639-139327644, 139327673-139327731, 139328489-139328519, 139328528-139328537, 139328545-139328567, 139328570, 139328575-139328583, 139328586, 139329195-139329227, 139329241, 139329286-139329315, 139333060-139333064, 139333124-139333133, 139333139, 139333178, 139333184, 139333213-139333268, 139333302-139333389, 139333407-139333432, 139333462-139333470, 139333483-139333484, 139333489-139333509, 139333512-139333517, 139333527-139333559, 139333562-139333565, 139333603-139333604, 139333612-139333666, 139333675-139333682, 139333698, 139333701, 139333703-139333728, 139333732, 139333739, 139333744-139333751, 139333760, 139333763-139333780, 139333797-139333800, 139333812-139333823, 139333849-139333860
959NOTCH190.1004173187271868987668139390523-139390670, 139390676-139391083, 139391096-139391099, 139391110-139391180, 139391192-139391417, 139391427-139391877, 139391885-139391925, 139391938-139392010, 139393360-139393382, 139393428-139393429, 139393564-139393641, 139393649-139393679, 139393697, 139393704-139393711, 139395004-139395269, 139395288-139395299, 139396200-139396335, 139396358, 139396361-139396365, 139396453-139396540, 139396724-139396752, 139396758, 139396766-139396856, 139396871-139396940, 139397634-139397734, 139397740-139397743, 139397757, 139399125-139399157, 139399166, 139399183-139399399, 139399409-139399425, 139399437, 139399453-139399556, 139399762-139400110, 139400118-139400251, 139400254-139400259, 139400267-139400333, 139400979-139400988, 139400994-139401027, 139401037, 139401040-139401044, 139401048-139401055, 139401062-139401091, 139401168-139401354, 139401385-139401425, 139401766-139401801, 139401818-139401824, 139401836-139401837, 139401841, 139401863-139401870, 139401875, 139401888-139401889, 139402426-139402521, 139402528-139402567, 139402684-139402780, 139402799-139402837, 139403322-139403523, 139404185-139404218, 139404230, 139404244-139404263, 139404274-139404275, 139404287-139404324, 139404341, 139404369-139404413, 139405105-139405233, 139405604-139405697, 139405710-139405720, 139407473-139407586, 139407844-139407989, 139408962-139409048, 139409058-139409111, 139409120-139409154, 139409742-139409852, 139409935-139410160, 139410433-139410546, 139411724-139411837, 139412204-139412347, 139412360-139412389, 139412589-139412612, 139412618-139412624, 139412634-139412744, 139413043-139413046, 139413066-139413276, 139413895-139413941, 139413947-139414017, 139417302-139417640, 139418169-139418431, 139438491-139438554, 139440178-139440238
960AGPAT290.25567502986858623837139568204-139568279, 139568297, 139568330-139568379, 139569187-139569238, 139569255-139569259, 139571076-139571077, 139571100-139571101, 139571108-139571132, 139571413-139571419, 139571447-139571495, 139571520-139571563, 139571566, 139571578-139571588, 139571875-139571934, 139571948-139571978, 139571984-139572008, 139581628-139581809
961SLC34A390.1755555555555614841800140126211-140126239, 140126532, 140126539-140126556, 140126559-140126560, 140126567, 140126582-140126609, 140127027-140127155, 140127236-140127283, 140127291-140127331, 140127342, 140127359-140127360, 140127366, 140127375-140127378, 140127456-140127493, 140127549-140127563, 140127662-140127667, 140127705-140127707, 140127715-140127738, 140127753-140127763, 140127804-140127856, 140128085-140128090, 140128098-140128174, 140128315-140128393, 140128561-140128725, 140128868-140128957, 140128963-140128984, 140129059-140129183, 140130404-140130868
962EHMT190.6638439825506813103897140513481-140513501, 140605419-140605455, 140605470-140605482, 140611078-140611634, 140622827, 140622835-140622873, 140622913-140622961, 140638414, 140638418, 140638422, 140638425, 140638428-140638430, 140638449, 140638498-140638499, 140638516, 140669561-140669567, 140669577-140669600, 140669623, 140669629-140669637, 140669640-140669681, 140669694-140669704, 140671094-140671119, 140671138-140671178, 140671188-140671287, 140672340-140672416, 140672441, 140672445-140672507, 140674087-140674109, 140695414-140695435, 140705940, 140705988, 140706066-140706067, 140707532-140707533, 140707842, 140707847, 140707859, 140707931-140707976, 140708889-140708895, 140708919-140708960, 140711940, 140728872, 140728961-140728976, 140729287, 140729292, 140729295, 140729326, 140729330-140729333, 140729336-140729338, 140729342, 140729405
963SHOXX0.50170648464164438879591633-591909, 595353-595365, 595377-595407, 595435-595548, 595559-595561
964CSF2RAX0.22452107279693101213051401597-1401672, 1404671-1404714, 1404744-1404752, 1404761-1404805, 1404812-1404813, 1407419-1407421, 1407445-1407449, 1407498-1407519, 1407652-1407676, 1407686-1407723, 1407767-1407781, 1409230-1409319, 1409327-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422912, 1424339-1424375, 1424391-1424394, 1424399-1424408, 1428308-1428310, 1428353-1428361
965ARSEX0.992655367231641317702852951-2852953, 2852985, 2852994-2853002
966FANCBX0.998837209302333258014883302-14883304
967CDKL5X0.998383446492085309318525237-18525240, 18525245
968PHKA2X0.9830097087378663370818911753-18911760, 18912342-18912350, 18912409-18912417, 18912437-18912446, 18912454, 18912476-18912477, 18912503-18912515, 18913271-18913278, 18913287-18913289
969RPS6KA3X0.998200629779584222320284702-20284705
970SMSX0.9554950045413349110121958943-21958991
971ARXX0.91888691533452137168925031261-25031267, 25031456-25031488, 25031509-25031571, 25031594, 25031647-25031670, 25031674, 25031678-25031679, 25031891, 25031894, 25031899-25031902
972DMDX0.9999095677337711105832841422
973RPGRX0.550159005492921556345938144793-38144824, 38144853-38144872, 38144898-38144916, 38144927-38144940, 38145014-38145046, 38145062, 38145068-38145076, 38145105-38146374, 38146384-38146404, 38146430-38146435, 38146442, 38146461-38146498, 38147126-38147129, 38147145-38147151, 38147169-38147186, 38147212-38147258, 38147286-38147289, 38147292, 38150701, 38150708, 38156690-38156698
974TSPAN7X0.9841275038420812-38420822, 38420861
975BCORX0.9948747152619627526839916526, 39922199-39922206, 39923045-39923047, 39931906-39931908, 39932044-39932049, 39933308-39933309, 39933927-39933930
976NYXX0.9426002766251783144641332744-41332753, 41332951-41332957, 41333243-41333248, 41333324-41333325, 41333331-41333344, 41333367-41333371, 41333477-41333484, 41333512-41333513, 41333516-41333522, 41333539, 41333598-41333599, 41333944, 41333949-41333966
977MAOAX0.994949494949498158443572027-43572034
978ZNF41X0.997008547008557234047308214, 47308771-47308772, 47308777-47308780
979SYN1X0.99716713881026211847433920, 47466383-47466384, 47466389-47466391
980PORCNX0.9797979797979828138648370737-48370740, 48370992, 48371025-48371030, 48372656-48372659, 48374130, 48374133-48374136, 48374306-48374313
981PQBP1X0.951127819548873979848758516-48758522, 48758545-48758566, 48759729-48759736, 48760014, 48760308
982CACNA1FX0.9888776541961666593449061638-49061666, 49061695-49061709, 49062980-49062990, 49063023, 49067111, 49067144, 49067478-49067481, 49067928-49067930, 49068358
983FOXP3X0.9336419753086486129649107795-49107796, 49107799, 49107838-49107850, 49107873-49107877, 49107881-49107898, 49108153, 49108211-49108217, 49114765, 49114782-49114786, 49114792-49114796, 49114887, 49114908-49114931, 49114934, 49114940-49114941
984KDM5CX0.999786461669871468353231040
985SMC1AX0.96920583468395114370253410109-53410113, 53431998-53432033, 53432299, 53432315, 53436121-53436122, 53436127-53436131, 53436182-53436189, 53439047, 53439073-53439079, 53440182-53440189, 53440192, 53440285-53440323
986ARX0.995656894679712276366765158-66765166, 66765169, 66765219, 66765229
987OPHN1X0.99916977999172240967333073, 67333079
988EDAX0.996598639455784117669247795-69247798
989IGBP1X0.9901960784313710102069366587, 69368660-69368668
990DLG3X0.9873675631621831245469665068-69665082, 69665377-69665392
991MED12X0.9969390878481820653470360648-70360650, 70360669-70360682, 70361098-70361100
992TAF1X0.97976064765927115568270586193-70586239, 70586252-70586258, 70586276-70586309, 70586330, 70586335-70586344, 70641195, 70678127-70678133, 70678147, 70678188, 70679435-70679440
993PHKA1X0.999727668845321367271915648
994SLC16A2X0.9858849077090126184273641390-73641415
995ATRXX0.9910415830993467747976763916, 76919004-76919017, 76937603, 76937608, 76938478, 76938490-76938494, 76938636-76938637, 76938714-76938726, 76938793, 76938984, 76940465-76940489, 77041470-77041471
996BRWD3X0.9979663523756711540979945324, 80064946-80064950, 80064962-80064966
997ZNF711X0.9956255468066510228684520244-84520253
998PCDH19X0.9960677555958913330699551433, 99657690, 99662202, 99663178-99663180, 99663183-99663185, 99663560-99663562, 99663578
999PRPS1X0.997910135841172957106871964, 106871979
1000ACSL4X0.9990636704119922136108906545-108906546
1001UPF3BX0.9951790633608871452118968854-118968860
1002XIAPX0.99263721552878111494123019740-123019750
1003OCRLX0.9981522542498252706128674428-128674430, 128674744, 128674747
1004GPC3X0.99082042455536161743133119352, 133119408-133119421, 133119476
1005ARHGEF6X0.99957099957112331135770136
1006ZIC3X0.97578347578348341404136651087, 136651131-136651149, 136651211-136651224
1007SOX3X0.97688292319165311341139586025-139586031, 139586143-139586146, 139586148-139586150, 139586157, 139586445-139586453, 139586690-139586696
1008AFF2X0.99517276422764193936147582624-147582637, 147582641, 147582652, 147582655-147582657
1009FAM58AX0.9714285714285721735152858073-152858075, 152864469-152864480, 152864483-152864484, 152864504, 152864512-152864513, 152864516
1010SLC6A8X0.555555555555568481908152954030-152954291, 152955841, 152955896-152955909, 152955922-152955955, 152956759-152956779, 152956880-152956905, 152956945-152956987, 152957430, 152957441-152957460, 152957503-152957506, 152957511-152957512, 152957519-152957558, 152958525, 152958542, 152958559, 152958565-152958595, 152958629-152958630, 152958739-152958774, 152958796, 152958804, 152958808, 152958951, 152958972, 152958993, 152959004, 152959372-152959408, 152959430-152959472, 152959590-152959635, 152959655-152959656, 152959664, 152959682-152959687, 152959715-152959722, 152959799-152959865, 152959894-152959901, 152960065-152960066, 152960225-152960265, 152960296-152960298, 152960301-152960310, 152960313, 152960316, 152960338-152960344, 152960529, 152960536, 152960560, 152960576, 152960592, 152960597-152960605, 152960608-152960609, 152960633-152960634
1011ABCD1X0.4906166219839111402238152990722-152990750, 152990768-152990783, 152990789-152990854, 152990860-152990864, 152990874-152990875, 152990887-152990893, 152990902, 152990911, 152990928-152991029, 152991039-152991063, 152991076-152991081, 152991086-152991101, 152991115, 152991130, 152991134-152991136, 152991160, 152991163-152991208, 152991232-152991262, 152991276-152991310, 152991335-152991355, 152991382-152991402, 152991411, 152991415-152991456, 152991517-152991536, 152991554-152991557, 152991564-152991569, 152991584-152991621, 152994733-152994736, 153001566-153001576, 153001611, 153001644-153001660, 153001669-153001700, 153001800-153001821, 153001859-153001861, 153001919, 153001929-153001942, 153001948-153001955, 153001967, 153002611-153002621, 153002640-153002645, 153002651-153002652, 153002668-153002705, 153005553-153005566, 153005569-153005574, 153005608-153005656, 153005680-153005691, 153006078-153006096, 153006134-153006156, 153006173, 153008441-153008462, 153008468-153008517, 153008675-153008678, 153008703-153008734, 153008782, 153008788, 153008943-153008960, 153009013-153009072, 153009080-153009189
1012L1CAMX0.795177530471657733774153128118-153128140, 153128935, 153128940, 153128992-153128998, 153129001, 153129441-153129456, 153129872-153129884, 153130116, 153130155-153130159, 153130292-153130297, 153130623-153130628, 153130633, 153130636-153130637, 153130652, 153130655-153130660, 153130838-153130864, 153130908, 153130940-153130944, 153130948, 153131184, 153131199, 153131236-153131240, 153132105-153132118, 153132309-153132312, 153132857-153132885, 153132938, 153133304-153133335, 153133484-153133490, 153133542, 153133777-153133785, 153134051-153134055, 153134140, 153134143, 153134159, 153134170, 153134181-153134182, 153134378, 153134391-153134396, 153135019-153135061, 153135082-153135088, 153135099-153135118, 153135258-153135284, 153135295-153135321, 153135367-153135372, 153135374-153135384, 153135511-153135559, 153135594-153135649, 153135690-153135695, 153135843-153135854, 153135889-153135908, 153135938-153135954, 153136245-153136253, 153136278-153136322, 153136397-153136410, 153136512-153136521, 153136569-153136634, 153137607-153137642, 153137652, 153137725-153137727, 153137731-153137735, 153137740, 153141216-153141218, 153141233-153141265
1013AVPR2X0.94444444444444621116153171067-153171068, 153171082-153171084, 153171247, 153171250, 153171391-153171412, 153171796-153171815, 153172050-153172056, 153172090-153172095
1014MECP2X0.97394789579158391497153297923, 153363076-153363113
1015OPN1LWX0.860273972602741531095153409758, 153409761, 153409765-153409767, 153409770, 153409819-153409825, 153416236, 153418421-153418427, 153418521-153418544, 153420051, 153421769-153421789, 153421809-153421824, 153424291, 153424296-153424300, 153424332-153424381, 153424388-153424401
1016OPN1MWX0.723287671232883031095153448213-153448236, 153453336-153453370, 153453443-153453463, 153453473-153453496, 153455551-153455557, 153455651-153455686, 153457181, 153457299-153457300, 153458899, 153458913-153458947, 153458988-153458991, 153459003, 153459007, 153459039-153459049, 153459067-153459096, 153461421, 153461426-153461430, 153461462-153461511, 153461518-153461531
1017OPN1MWX0.6621004566213701095153485331-153485354, 153490397-153490403, 153490454-153490488, 153490561-153490581, 153490591-153490614, 153492661-153492688, 153492704, 153492708, 153492714-153492716, 153492769-153492804, 153494299, 153494417-153494418, 153496017-153496047, 153496057-153496072, 153496100-153496109, 153496112, 153496121, 153496125, 153496141-153496167, 153496185-153496214, 153498539, 153498544-153498548, 153498580-153498629, 153498636-153498649
1018FLNAX0.2348942598187360787944153577217-153577251, 153577257-153577299, 153577327-153577340, 153577350-153577404, 153577730-153577933, 153578017-153578025, 153578036-153578044, 153578056-153578140, 153578153-153578193, 153578196-153578232, 153578421-153578461, 153578487, 153578490-153578496, 153578523-153578571, 153579299-153579329, 153579333-153579334, 153579337, 153579345, 153579354-153579356, 153579359-153579360, 153579371-153579383, 153579949-153579960, 153579979-153580002, 153580015-153580064, 153580252-153580261, 153580312-153580389, 153580549-153580594, 153580604, 153580620-153580624, 153580627-153580661, 153580681-153580785, 153580813, 153580921-153580989, 153580996-153581043, 153581140-153581206, 153581231-153581233, 153581241-153581292, 153581369-153581406, 153581416-153581418, 153581424-153581438, 153581448-153581572, 153581664-153581817, 153581922-153581944, 153581952-153582093, 153582283-153582285, 153582294-153582315, 153582320-153582323, 153582332-153582411, 153582527-153582601, 153582614-153582659, 153582753-153582756, 153582760-153582782, 153582797-153582851, 153582984-153583035, 153583044, 153583059-153583079, 153583201-153583205, 153583215, 153583220-153583266, 153583292-153583440, 153585635-153585642, 153585802-153585848, 153585867-153585941, 153585957-153585991, 153586569-153586582, 153586607-153586666, 153586671, 153586678-153586723, 153586813-153586888, 153586895-153586910, 153586916-153586919, 153586923-153586936, 153587352-153587467, 153587476-153587522, 153587614-153587703, 153587709-153587774, 153587861-153587869, 153587874-153588013, 153588100-153588247, 153588258-153588273, 153588358-153588594, 153588600-153588629, 153588632-153588657, 153588678-153588776, 153588792-153588872, 153588879-153588885, 153588891-153588929, 153588950-153588955, 153589676-153589922, 153590086-153590155, 153590347-153590494, 153590610-153590675, 153590787-153590924, 153590927-153590946, 153591029-153591092, 153591134-153591152, 153592396-153592421, 153592441-153592474, 153592483-153592487, 153592496-153592501, 153592510-153592520, 153592528-153592533, 153592627-153592628, 153592631-153592634, 153592661, 153592667-153592670, 153592673-153592697, 153592715, 153592718-153592719, 153592728, 153592902-153592917, 153592932-153593014, 153593036-153593042, 153593047, 153593086-153593087, 153593199-153593204, 153593207-153593214, 153593225-153593238, 153593245-153593275, 153593314-153593325, 153593543-153593553, 153593581-153593595, 153593601-153593627, 153593717-153593728, 153593745-153593772, 153593788-153593854, 153594392-153594496, 153594515-153594528, 153594544-153594557, 153594560-153594571, 153594574, 153594718, 153594729, 153594754-153594777, 153594792, 153594807-153594838, 153594930-153594958, 153594967-153594974, 153595100-153595181, 153595215-153595218, 153595765-153595774, 153595791-153595808, 153595836-153595861, 153595899-153595912, 153596009-153596048, 153596059-153596106, 153596210-153596230, 153596254, 153596258-153596261, 153596266-153596286, 153596299-153596308, 153596315-153596360, 153596379-153596410, 153596415-153596427, 153596446, 153596449-153596458, 153599241-153599273, 153599281, 153599318-153599321, 153599341-153599344, 153599356, 153599372-153599410, 153599419-153599483, 153599496-153599613
1019EMDX0.26928104575163559765153607845, 153607856-153607926, 153608050-153608154, 153608302-153608311, 153608326-153608369, 153608378-153608379, 153608595-153608612, 153608624-153608727, 153609113-153609162, 153609242-153609246, 153609259-153609272, 153609322-153609327, 153609338-153609392, 153609402, 153609417-153609420, 153609427-153609464, 153609509-153609519, 153609526, 153609529, 153609540-153609557
1020TAZX0.67046894803549260789153640193-153640202, 153640217-153640289, 153640423-153640474, 153640483-153640488, 153640509-153640551, 153641544, 153641583-153641589, 153641824-153641846, 153641865-153641904, 153647960, 153648551-153648554
1021GDI1X0.898809523809521361344153665620-153665631, 153666876-153666891, 153666953-153666956, 153667111-153667113, 153667373, 153667384-153667386, 153668350-153668354, 153668381-153668382, 153668427-153668441, 153668472-153668486, 153668770-153668774, 153669453-153669457, 153669490-153669506, 153670113-153670129, 153670752, 153670761-153670764, 153670767-153670773, 153670926-153670928, 153670934
1022G6PDX0.95238095238095781638153760285, 153760291, 153760601-153760602, 153760606, 153760624-153760626, 153760654, 153760782-153760822, 153761286, 153761855, 153762553-153762560, 153762610, 153762616-153762617, 153762687, 153762693-153762700, 153764368-153764371, 153764375-153764376
1023IKBKGX0.98975409836066151464153792573-153792587
1024IKBKGX0.9693251533742315489153868340-153868354
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FKTN-G125Shomozygous0.037Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TNFRSF13B-C104Rhet unknown0.004Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
2ELAC2-S217Lhomozygous0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R3638Qhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
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-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihet unknown0.817Unknown
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
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-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2GLI3-G727Rhet unknown0.005Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.054 (benign), Testable gene in GeneTests with associated GeneReview
2GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2ALAD-K59Nhet unknown0.059Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA1-S1040Nhet unknown0.017Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview
2BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5PRKCH-V374Ihet unknown0.006Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
1.5MBL2-R52Chet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1.375ABCA4-G1961Ehet unknown0.003Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
1.375ABCA4-R943Qhet unknown0.032Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests
1.375ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.375SLC26A2-R492Whet unknown0.015Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.375SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-A191Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
1KCNJ11-L270Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COMP-N386Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTTP-Q95HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MTTP-I128Thomozygous0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MTTP-H297Qhomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ERCC2-K751Qhomozygous0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FERMT1-R526Khomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
1ZNF254-D93Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF254-K537Nhomozygous0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C12orf60-K65RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C12orf60-N103KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C12orf60-M184ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
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
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1FREM2-R2066Chomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1FREM2-T2153Shomozygous0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HTT-G893Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-V1064Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RYK-S95Nhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT10-GHGG490Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-H487Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1KRT10-H487Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1KRT10-I101SFGGGSFGGGShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
1SHANK3-A737ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1KRT5-D197Ehomozygous0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1GNPTAB-R46Qhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-A796Thet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A832Ghomozygous0.650Unknown
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
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1LAMC2-T124Mhomozygous0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CHIT1-A442Ghet unknown0.109Unknown
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
1ZNF880-N106ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF880-N140NNhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-R198Shomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-N202Hhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-K471Rhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1KCP-D621Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-G550GGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet 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
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SSX1-F101Chomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
1RHBG-G315Rhomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RHBG-P424ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C2orf83-W141*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C2orf83-S45LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-I81VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-C194*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G442Rhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.75AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.75FUT6-E247Khet unknown0.128Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.75FUT6-K73Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-V134Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-A859Vhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF432-R533Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5TRPV1-I585Vhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV1-T469Ihomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV1-M315Ihet unknown0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV1-P91Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR1E1-A143Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCA-S1088Fhet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G809Dhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-S734Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RABEP1-M628Ihet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MYH8-E1838Ahet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests
0.5MYH8-W1692Rhet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH8-A636Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SRD5A2-L88Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SRD5A2-A48Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH2-Y1385Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH2-T3600Ihomozygous0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH2-F4232Lhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.056 (benign)
0.5DNAH2-V4357Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5TYK2-P1104Ahet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-S259Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-L112Fhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SULT6B1-K50Ehet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-V37Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SULT6B1-A23Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_003131-Q17Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AARS-T562Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview
0.5UQCRC2-R183Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5IL21R-T46Mhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UNC13A-A447Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-H623Rhet unknown0.019Unknown
not reviewed
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
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIGLEC12-R528Whet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5SIGLEC12-Y494Shet unknown0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC12-T478Mhet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5SIGLEC12-H398Yhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.069 (benign)
0.5SIGLEC12-H217Qhet unknown0.885Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5SIGLEC12-A82Vhet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SIGLEC12-A66Shifthet unknown0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5ZNF638-C1198Rhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5KIAA0556-P920Lhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0556-A1240Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.658 (possibly damaging)
0.5KIAA0556-A1267Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-T91Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEPT1-G80Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRKCSH-A291Thomozygous0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CYP2A7-V479Ghomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-T347Ahet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-S294Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP2A7-H274Rhomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5CYP2A7-Q265Rhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-D169Ehet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.46 (possibly damaging)
0.5CYP2A7-S153Ahet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-C64Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-F61Ihet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF792-N425Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ZNF792-R177Qhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC7A9-L223Mhomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5SLC7A9-V142Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNG1-G196Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5BRIP1-S919Phomozygous0.612Unknown
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
0.5TRAP1-R692Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.483 (possibly damaging)
0.5TRAP1-R307Ghomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRAP1-S259Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5ZNF577-T375Ihet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5ZNF577-E373Khet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF577-R357Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF577-R346Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ZNF577-Y270Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZNF577-K246Ehet unknown0.472Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF766-V198Lhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.687 (possibly damaging)
0.5ZNF57-S56Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ZNF57-T223Nhomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.654 (possibly damaging)
0.5ZNF708-H554Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZNF708-K122Thet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5ZNF708-K113Ehet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ZNF708-A71Vhomozygous0.975Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF532-E761Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CDH19-G645Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MYH14-M161Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5CCL14-S25Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5MYO19-L863Fhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO19-N176Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5ZIM3-K438*het unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZIM3-I379Vhet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.5ZIM3-N157Dhet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZIM3-L69Mhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.5RFXANK-E48Dhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPIN1-P610Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), Testable gene in GeneTests
0.5MRM1-C120Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PAK4-R135Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.307 (possibly damaging)
0.5FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PNKP-P20Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.471 (possibly damaging), Testable gene in GeneTests
0.5NM_001144950-L976Phomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001144950-V978Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NM_001144950-M1274Ihet unknown0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NM_001144950-M1274Ihet unknown0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NM_001144950-P1295Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NM_001144950-P1456Shomozygous0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLX4-A1221Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.263 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLX4-A952Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-L671Shet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-N457Khet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-R204Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HRAS-T158Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HRAS-R102Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZBED5-I480Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.494 (possibly damaging)
0.5SLC6A5-P46Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5TACC2-V170Ihet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-E719Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5TACC2-W1103Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-A1425Thet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-V2197Ahet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-A2210Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TACC2-L2261Hhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.5TACC2-S2909Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5SEC23IP-A241Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-N642Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLCE1-S469Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), 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
0.5CYP2C8-I264Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.951 (probably damaging)
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-T210Mhomozygous0.580Unknown
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
0.5CCDC34-N298Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5CCDC34-P53Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.508 (possibly damaging)
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
0.5PCNXL3-R274Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCNXL3-H1822Qhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.089 (benign)
0.5PCNXL3-R1917Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5RIN1-A79Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5CCDC87-L738Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhomozygous0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whomozygous0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A12-C88Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A12-SLGT336TLGAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MS4A14-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)
0.5TMEM132A-N280Khet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TMEM132A-N280Khet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TMEM132A-E825Khet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5AHNAK-G2527Dhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC6-G399Dhomozygous0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P582Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OVGP1-E676Qhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-S536Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-T533TTGQKTLThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OVGP1-Y514Hhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-S511Phet unknown0.248Unknown
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-M477Thomozygous0.529Unknown
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)
0.5LEPR-Q223Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5ALG6-Y131Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF207-N573Shomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-G603Ahomozygous0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CASP9-Q221Rhomozygous0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASP9-R173Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.346 (possibly damaging)
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-R27Lhet unknown0.523Unknown
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
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NES-P1275Lhomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NES-R1133Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5NES-P1101Lhomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5NES-V130Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
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-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5CCDC7-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
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
0.5PTCHD3-L152Phet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PITRM1-F618Lhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5OR2T3-M204Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5PKP1-C446Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH14-L828Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-K1010Rhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-R1011Qhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-N1099Yhomozygous0.804Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-M1110Ihomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-E1209Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH14-T1850Mhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-E3391*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DNAH14-D3393Ehomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-K3474Ehomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-Q3556Rhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-V3627Ahomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-R3670Khomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-L4096Phet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-F4244Chet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OBSCN-A908Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-A1532Vhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OBSCN-D2106Ehomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-F2116Lhomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-V2720Mhet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.839 (possibly damaging)
0.5OBSCN-G2789Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5OBSCN-A3300Thet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.552 (possibly damaging)
0.5OBSCN-G4039Rhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5OBSCN-H4381Rhomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-H4489Qhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.583 (possibly damaging)
0.5OBSCN-R4516Whet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.65 (possibly damaging)
0.5OBSCN-R4534Hhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-S4642Chomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-G4666Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-D4962Ghomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-Q5891Ehet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5AMOTL1-E248Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AMOTL1-R363Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5BIRC2-A506Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.292 (possibly damaging)
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
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5AX747031-Y95*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MOGS-V62Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.5GMPR2-G242Dhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-Y424Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-P4225Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5PLA2G4E-R614Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLA2G4E-N371Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BLM-P868Lhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BLM-V1321Ihet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PIGQ-F40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PIGQ-V45Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5SPG11-A695Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG11-E370Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTFMT-F58Ihet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5VPS13C-I1132Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5VPS13C-R974Khet unknown0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13C-R153Hhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEP1-K368Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF21A-E1224Dhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-N551Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.093Unknown
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
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5MLL2-L3747Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-Q3735Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-D3419Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-M2652Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5ATM-V410Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-D1853Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLB1L2-G203Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5WNK1-A141Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phet unknown0.850Unknown
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
0.5GNB3-G272Shet unknown0.053Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.184 (benign)
0.5VWF-T1381Ahet unknown0.712Unknown
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
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-R149Chomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT6B-I365Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SGCG-R116Hhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KNTC1-H748Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5LRRC43-Q256Khet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC43-S510Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LRRC43-E520Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HOXC6-R67Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DCD-D71Nhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5STAT2-G825Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRM6-T436Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAML1-G97Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.403 (possibly damaging)
0.5MAML1-S1007Nhet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5JARID2-R492Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5PROP1-N20Shomozygous1.000Unknown
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
0.5KDM3A-I212Vhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KDM3A-C417Fhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SLC36A3-R190Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.371 (possibly damaging)
0.5SLC36A3-K167Ehet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DCDC2-S221Ghet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCDC2-P152Ahet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5MRS2-P412Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF6-W719Rhomozygous0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
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
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC39A7-G124Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5COL11A2-P1722Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-A237Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-W209*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-H-D29Ahet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-E34Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R141Qhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
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-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-G102Rhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R87Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q85Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G77Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G45Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.400Unknown
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-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E63Ghet unknown0.255Unknown
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-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-SK75RQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G79Delhet unknownUnknown
not reviewed
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-IM98SLhet unknown0.066Unknown
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-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-A467Ghet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.035 (benign)
0.5PCDHB10-R543Shomozygous0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB10-EA684Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-R202Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PCDHB16-T482Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PCDHB16-Q638Hhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-R652Chet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5PCDHB16-A710Vhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KIAA1109-R2222Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAT4-Q1257Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5FAT4-H3215Yhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5FAT4-G3524Dhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5FAT4-S3873Nhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MFSD8-A423Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENPEP-Q213Rhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ENPEP-V218Ahet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ENPEP-W413*het unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCK-P122Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ABCG2-Q141Khet unknown0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-T1927Mhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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-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-E3471Khet unknown0.758Unknown
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
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR36-A163Vhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests
0.5WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.756Unknown
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
0.5IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC125-R97*het unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CCDC125-V13Mhomozygous0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.134 (benign)
0.5F2RL2-M177Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.627 (possibly damaging)
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
0.5CRISP2-C196Rhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
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-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CSMD3-R1228Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CSMD3-I219Mhet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5GLIS3-P456Qhomozygous0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLIS3-S424Phomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLIS3-P364Shet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKHD1L1-M265Thet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5PKHD1L1-G1145Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NBN-E185Qhomozygous0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-I114Thomozygous0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB3-W64Rhet unknown0.085Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITIH5L-W1041Shet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RGAG1-W1200Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ABCD1-T254Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCD1-F261Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027444-W159Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-P562Ahet unknown0.091Unknown
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
0.5CEP110-V56Ihomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5CEP110-P216Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5CEP110-L954Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PTGS1-W8Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGS1-P17Lhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LHX3-DE134EGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LHX3-A122Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.408Unknown
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
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEKHG1-V1071Ahet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLEKHG1-G1081Ehet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLEKHG1-L1321Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), 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-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S3346Yhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-R843Chet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWDE-F1485Chet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K964Nhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G340Dhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-A3474Thet unknown0.350Unknown
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-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSE-T25Ihet unknown0.256Unknown
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)
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5KIAA1586-F75Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LCA5-G656Dhomozygous0.381Unknown
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
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5ARMC10-R29Whet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MLL5-G999Chet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5MLL5-N1407Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM24-N796Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-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
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C1-N363Shet unknown0.022Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ERC2-N542Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.212 (possibly damaging)
0.5SDF2L1-R161Hhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
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)
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Qhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5DSCR4-P40Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
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-V547Mhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHEK2-R223Chet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NKTR-S617Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NKTR-S1413Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IQCF1-R114Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5IQCF1-K57Ehet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ITIH3-Q315Khet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITIH3-T340Mhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ITIH3-P659Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADSL-EM277GRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADSL-E283Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DEPDC5-F685Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5DEPDC5-M1111Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5BAIAP2L2-P407Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5RALGAPA2-E189Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SEC23B-V426Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SEC23B-H489Qhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
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-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-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-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-V2823Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE11A-S921SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDE11A-Y727Chet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PDE11A-R184Qhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.5LCT-N1639Shet unknown0.612Unknown
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
0.5LRP1B-V4264Lhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCB11-S1120Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-M677Vhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH7-L3319Phomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-T2114Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5DNAH7-K825Ehet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.208 (possibly damaging)
0.5DNAH7-S632Chet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SAG-I76Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.436 (possibly damaging), Testable gene in GeneTests
0.5SAG-V403Ahet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-R1454Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5ALS2CR11-C1039Ghomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2CR11-P460Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ALS2CR11-H376Qhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYCP2-M1003Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SYCP2-Y812Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SYCP2-T751Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5SYCP2-T353Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.881 (probably damaging)
0.5DNAJC13-A1463Shomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAJC13-P1515Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A8-R664Qhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5SLC12A8-K541Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC12A8-I281Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5SLC12A8-P266Lhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC12A8-R181Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIAA2018-V2200Ahomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA2018-S1818Ghet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (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
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-F440Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), 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
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPOX-V294Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NGF-R80Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), 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
0.375HMCN1-G3566Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.375MICA-W37Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375MICA-Q114Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375MICA-V300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.375MICA-C329Rhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375MICA-P330Lhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GSTP1-I105Vhet unknown0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP10-L522Ihet unknown0.439Unknown
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
0.25ANKRD30A-K861Nhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD30A-V912Ihet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD30A-A918Thet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD30A-R929Chet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.385 (possibly damaging)
0.25ANKRD30A-E1258Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DLGAP2-I710Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DLGAP2-I710Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANTXR2-A357Phet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANTXR2-A357Phet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
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
0.25MRC1-S396Ghet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MRC1-S396Ghet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-V239Ihet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TRIB3-Q84Rhet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25NRAP-R1566Chet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25NRAP-L1531Phet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.25NRAP-R884Chomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.25NRAP-A674Vhomozygous0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-Y373Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NRAP-Q360Rhomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-V208Ahomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF224-M118Vhet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhet unknown0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUC5AC-R2297Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC5AC-R2662Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC5AC-T2691Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLYR1-H459Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLYR1-R381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EDARADD-M9Ihet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANK3-A3707Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANK3-K3123Rhomozygous0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C10orf26-G314Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf26-S323Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
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
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25KAL1-V534Ihet unknown0.562Unknown
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
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-Y1301Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC2A9-P350Lhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-G25Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM185B-P342Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMEM185B-A42Ghomozygous0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.094 (benign)
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
0.25SLC16A2-S107Phet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMCO4-R478Hhomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TMCO4-Q72Khomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMCO4-P15Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMCO4-Q13Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDK5RAP2-E289Qhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC12A3-N736Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASPM-Y2494Hhet unknown0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GRSF1-S95Phet unknown0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GRSF1-S95Phet unknown0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AGT-M268Thet unknown0.561Unknown
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
0.25AOX1-H1297Rhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MKKS-G532Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25PANK2-G126Ahet unknown0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25C17orf77-E85*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C17orf77-T198Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25AXIN2-P50Shet unknown0.389Unknown
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
0.25GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASR-E1011Qhet unknown0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WDR66-E111*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25WDR66-L650Fhomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WDR66-V870Lhomozygous0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SDHA-V657Ihet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25TIMELESS-P1018Lhomozygous0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.25TIMELESS-R831Qhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.25TIMELESS-I455Lhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TIMELESS-S209Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VPRBP-L1096Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VPRBP-D1093Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C14orf73-Q675Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf73-L705Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC25A47-CE204SAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC25A47-G211Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TC2N-K151Thet unknown0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25TC2N-K151Thet unknown0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25CYP2D7P1-H290Rhet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-Y265Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-L141Phet unknown0.397Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-V137Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CYP2D7P1-F30Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
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)
0.25HSD17B4-W511Rhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably 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
0.25SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25TBC1D10C-R406Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TBC1D10C-Q435Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phet unknown0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THAP7-A115Phet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25THAP7-A115Phet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1751-K378Rhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25KIAA1751-I363Vhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1751-R280*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC35C1-I227Vhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP4-R1646Qhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP4-S1554Ghet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP4-A1237Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRP4-I1086Vhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC22A2-S270Ahet unknown0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF853-G8Rhet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF853-Q30Rhet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF853-Q375Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLEKHG6-A35Thet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PLEKHG6-L318Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-V174Ahet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-L643Fhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ICAM3-D143Ghet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ICAM3-D56Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNRD2-I370Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TXNRD2-Q99Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TXNRD2-C91Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25EYS-L1873Vhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-S1517Ghet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-R1515Whet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1451Thet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1361Vhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q1325Ehet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1263Vhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q571Rhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
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
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0MTMR2-K3Shifthet 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)

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,689,769,576 bases (95.0% of callable positions, 89.0% of total positions)

Coding region coverage: 30,737,115 bases (92.5% of all genes, 93.5% 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

Gene search

"GENE" or "GENE A123C":

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