hu87BAAD - GET-Evidence variant report

Variant report for hu87BAAD

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1PMM2-R141HHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00400223Several different genetic testing groups report this variant causes Carbohydrate-deficient glycoprotein syndrome type I, as recorded in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/RCV000008145/). ExAC allele frequency data appears to contradict this, as the allele frequency is relatively high: according to their data, 1 in 8,000 with European descent are expected to be homozygous. This seems to be more common than the disease itself, and would seem to contradict this reported effect. However, ExAC data also indicates this may be a low-quality site for sequencing (which may affect ExAC data, and other exome or whole genome data).1
2PRPH-D141YHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00365206Hypothesized to cause ALS (or increased susceptibility) in a recessive manner, but this is based on a single observation and may lack statistical significance. The mutant protein appears to form abnormal aggregates.1
3WNT10A-F228IModerateWell-establishedWell-established pathogenic

Unknown, Heterozygous
0.0187907Causes ectodermal dysplasia in a recessive manner (malformations of teeth and nails, abnormal/loss of sweating). Although reports have high statistical significance, allele frequency for this variant is high relative to the incidence of the disease. This suggests it may be milder than other pathogenic variants and cause disease with less than 100% penetrance and/or that the disease is more common than reported. Bohring et al. report heterozygotes for pathogenic variants in this gene often have milder skin, tooth, and nail abnormalities, with males having a higher rate of tooth abnormalities.1
4PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
5rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
6MTRR-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
7TGIF1-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
8RNASEL-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
9ELAC2-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
10WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
11SP110-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
12TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
13CPN1-G178DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0356014This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function.1
14ELAC2-A541TLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.0276074This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer".1
15BRCA2-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
16ITPA-P32TLowWell-establishedWell-established pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0609779This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.1
17rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
18FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
19NPC1-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
20CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
21MTR-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
22LPL-S474XLowUncertainUncertain protective

Unknown, Heterozygous
0.0844953This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.1
23NEFL-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
24CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
25ADA-K80RLowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0635806This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.1
26OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
27GUCY2D-A52SLowUncertainUncertain benign

Recessive, Homozygous
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
28ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
29RAPSN-R58CLowUncertainUncertain benign

Unknown, Heterozygous
0.0778026Reported as non-pathogenic polymorphism. 1
30PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
31PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
32ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
33APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
34ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
35PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
36ABCA4-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
37TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
38TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
39TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
40SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
41TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31971252 / 33212919 = 96.26%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.976865428478331426138955553-955594, 955612, 955620-955622, 955632-955669, 955672-955674, 955712, 955731-955753, 970683, 976213, 976217-976223, 976621, 979057-979059, 983614, 983621-983622, 983638, 983695, 984299-984311
2GABRD10.949963208241356813591950863-1950930
3PEX1010.768603465851172279812337205-2337237, 2337252, 2337257, 2337271, 2337923-2337944, 2337959-2337963, 2337977, 2337983, 2337987-2337996, 2338160, 2338171, 2338228-2338239, 2338255-2338278, 2338301, 2340003, 2340007-2340009, 2340015-2340020, 2340271-2340273, 2343830-2343872, 2343885-2343941
4NPHP410.9661294090165814542816021886, 6038330-6038473
5ESPN10.99649122807018925656485041, 6500467, 6505931-6505937
6PLEKHG510.989338350580123431896529179-6529212
7PEX1410.9876543209876514113410684431-10684444
8TARDBP10.9317269076305285124511082322-11082362, 11082566-11082609
9MASP210.73944687045124537206111086967, 11087258, 11087286, 11087541-11087565, 11087599, 11087609-11087611, 11087691, 11090891, 11090900, 11090927-11090937, 11094885-11094901, 11097763, 11097812, 11097815-11097833, 11102958-11102986, 11103025-11103079, 11103398, 11103434-11103438, 11103447, 11103458, 11103477-11103507, 11103520, 11103529-11103555, 11103558-11103560, 11103568-11103569, 11103582-11103587, 11105465-11105471, 11105486-11105589, 11106632, 11106638, 11106642-11106665, 11106668-11106673, 11106688-11106709, 11106753-11106790, 11106977, 11107003, 11107016, 11107021, 11107032, 11107037, 11107044-11107050, 11107060-11107061, 11107068, 11107074, 11107085, 11107088-11107089, 11107094-11107112, 11107133-11107176, 11107260-11107264
10PLOD110.995879120879129218411994837-11994845
11CLCNKA10.9932170542635714206416354391-16354397, 16360141-16360147
12PINK110.89117983963345190174620960056-20960103, 20960111-20960160, 20960192-20960195, 20960213-20960261, 20960318, 20960359, 20960365-20960374, 20960390-20960416
13ALPL10.9930158730158711157521880582-21880589, 21900273-21900275
14HSPG210.972981177899213561317622149809-22149844, 22149895, 22149898, 22149964-22149981, 22150203-22150209, 22150651, 22150834-22150854, 22150859, 22151047-22151071, 22151084-22151088, 22151243-22151258, 22154356-22154357, 22154382, 22154537-22154538, 22154590-22154607, 22154630-22154645, 22154754-22154760, 22154846, 22154853, 22154862-22154867, 22155328-22155359, 22155414-22155421, 22155528-22155549, 22155553-22155554, 22155902, 22155910, 22155981-22155983, 22156019-22156022, 22156509-22156527, 22156541, 22156554, 22157518-22157521, 22157546-22157554, 22263648-22263710
15WNT410.9346590909090969105622469347-22469415
16HMGCL10.962167689161553797824134812, 24151870-24151905
17LDLRAP110.99892125134844192725880532
18SEPN110.89088729016787182166826126722-26126902, 26131654
19YARS10.9678638941398951158733241600-33241602, 33251963-33251976, 33252023, 33252029-33252032, 33252623-33252624, 33256771-33256772, 33256799-33256822, 33256825
20HPCA10.99828178694158158233359425
21ZMPSTE2410.9901960784313714142840737601-40737604, 40737608-40737610, 40756543, 40756549-40756554
22COL9A210.999033816425122207040768480-40768481
23KCNQ410.997605363984675208841249879-41249883
24LEPRE110.998190863862514221143232612-43232615
25STIL10.999741401603311386747748058
26ORC110.999613302397531258652859298
27ALG610.9751633986928138153063836684-63836686, 63867925-63867937, 63868010, 63876873, 63881589-63881592, 63885065-63885074, 63894771, 63894782-63894786
28LEPR10.96883933676387109349866036156-66036158, 66064454-66064460, 66067309-66067321, 66067546, 66087091-66087092, 66101902, 66101979-66101981, 66102057-66102060, 66102063-66102067, 66102089, 66102248, 66102314, 66102392, 66102400, 66102405-66102414, 66102420-66102433, 66102480, 66102530-66102532, 66102561-66102563, 66102567-66102574, 66102644, 66102647-66102648, 66102653-66102654, 66102678-66102698
29RPE6510.999375780274661160268896763
30GLMN10.996078431372557178592713516-92713522
31ABCA410.9969217238346521682294497360, 94497388-94497405, 94497415, 94497421
32DPYD10.998700454840814307897839159, 97981422-97981423, 98187162
33AGL10.99760817569037114599100340323, 100340804, 100353534, 100353586-100353590, 100353593, 100382154-100382155
34DBT10.9993098688750911449100684182
35COL11A110.9998167491295615457103364280
36GSTM110.9817351598173512657110231691, 110232907-110232917
37AMPD110.98841354723708262244115218163-115218184, 115222986-115222989
38HSD3B210.9937444146559471119119964599-119964605
39NOTCH210.976537216828481747416120539665-120539714, 120539739-120539784, 120539913-120539939, 120548022-120548058, 120548091-120548097, 120572547, 120572572, 120572609-120572610, 120612003-120612004, 120612006
40HFE210.95081967213115631281145415365-145415391, 145415754-145415788, 145416337
41FLG10.43188905301165692312186152275176-152275188, 152275838-152275872, 152275900-152275932, 152276088, 152276129-152276175, 152276184, 152276201-152276202, 152276234-152276243, 152276259-152276301, 152276311, 152276318-152276320, 152276343, 152276362-152276364, 152276394-152276420, 152276459-152276501, 152276537-152276607, 152276622-152276665, 152276682-152276742, 152276775-152276782, 152276799, 152276818-152276860, 152276870-152276911, 152276919-152276962, 152276988-152277017, 152277040-152277063, 152277081-152277182, 152277210, 152277251-152277295, 152277312-152277340, 152277365-152277367, 152277371-152277379, 152277382-152277389, 152277398-152277473, 152277498, 152277512, 152277515-152277521, 152277551-152277578, 152277595-152277637, 152277659-152277666, 152277693-152277720, 152277733-152277734, 152277742, 152277749, 152277754, 152277783, 152277822, 152277826-152277833, 152277842, 152277846-152277848, 152277852, 152277867-152277882, 152277910, 152277918, 152277925-152277930, 152278002-152278014, 152278078, 152278099-152278152, 152278202, 152278205-152278208, 152278213-152278217, 152278241-152278247, 152278264, 152278303-152278309, 152278382, 152278407-152278424, 152278430-152278445, 152278467-152278494, 152278506-152278551, 152278567-152278610, 152278626-152278646, 152278659-152278692, 152278714, 152278758-152278761, 152278795-152278796, 152278808, 152278842-152278843, 152278846, 152278867-152278905, 152278917, 152278920-152278922, 152278979-152278989, 152279000-152279054, 152279084, 152279090, 152279117-152279118, 152279121-152279123, 152279155, 152279166, 152279236, 152279319-152279322, 152279327, 152279358-152279417, 152279423-152279427, 152279430-152279432, 152279435-152279445, 152279460-152279517, 152279539-152279584, 152279594, 152279627-152279701, 152279726-152279732, 152279741-152279749, 152279752-152279768, 152279780, 152279822-152279865, 152279892, 152279902-152279922, 152279928, 152279931-152279932, 152279949-152279978, 152279999-152280041, 152280048-152280087, 152280122-152280140, 152280148-152280187, 152280199, 152280204-152280208, 152280228-152280303, 152280329-152280330, 152280341-152280389, 152280401-152280450, 152280466-152280495, 152280503-152280517, 152280531-152280559, 152280609-152280653, 152280659-152280677, 152280685-152280727, 152280740, 152280759-152280761, 152280791-152280817, 152280844-152280867, 152280891-152280915, 152280927-152280968, 152281002, 152281005-152281022, 152281034-152281082, 152281116-152281331, 152281348-152281357, 152281382-152281415, 152281458-152281547, 152281558-152281608, 152281664, 152281674, 152281686-152281689, 152281732-152281799, 152281832, 152281839, 152281842-152281843, 152281852, 152281854-152281866, 152281887-152281893, 152281908-152282011, 152282031-152282058, 152282077-152282155, 152282165-152282189, 152282229-152282271, 152282278-152282368, 152282385-152282448, 152282463-152282477, 152282493-152282627, 152282648-152282795, 152282804-152282845, 152282871-152282879, 152282888-152282894, 152282918-152282976, 152283005, 152283035-152283160, 152283189-152283256, 152283289-152283291, 152283299, 152283306, 152283324-152283357, 152283375-152283438, 152283467-152283496, 152283502-152283751, 152283763-152283786, 152283794-152283991, 152284007-152284093, 152284101-152284147, 152284154-152284280, 152284302-152284386, 152284400-152284451, 152284466, 152284469, 152284476-152284478, 152284485-152284494, 152284512, 152284538-152284725, 152284733-152284803, 152284814, 152284817, 152284834-152284889, 152284897-152285016, 152285035-152285065, 152285084, 152285094, 152285097, 152285127-152285170, 152285185-152285229, 152285248-152285261, 152285273-152285347, 152285358, 152285367-152285437, 152285457-152285496, 152285508-152285555, 152285570, 152285574, 152285584-152285585, 152285618-152285657, 152285668-152285694, 152285704-152285770, 152285784-152285821, 152285834-152285863, 152285904-152285993, 152285999-152286060, 152286068-152286074, 152286081-152286113, 152286149-152286227, 152286240-152286286, 152286304-152286336, 152286343-152286400, 152286420-152286440, 152286445, 152286457-152286463, 152286526-152286568, 152286598-152286616, 152286660-152286666, 152286679, 152286694-152286751, 152286792-152286797, 152286800-152286811, 152286834-152286900, 152286957-152286971, 152286988, 152287008-152287016, 152287033, 152287037-152287039, 152287042-152287098, 152287160-152287169, 152287886-152287889, 152287892-152287895, 152287906-152287907
42TPM310.99883449883451858154148604
43CHRNB210.97481776010603381509154540521-154540540, 154540552, 154540560, 154540567-154540574, 154540578, 154544187, 154544220-154544223, 154544393, 154544558
44GBA10.9993792675356911611155205043
45PKLR10.9982608695652231725155269987-155269989
46SEMA4A10.9991251093613322286156131297-156131298
47MPZ10.9974259974262777161279662, 161279666
48DDR210.99454828660436142568162722920-162722931, 162725048, 162725482
49SLC19A210.9973226238286541494169454828-169454831
50F510.971985018726591876675169505744-169505756, 169505865-169505880, 169509537-169509545, 169509574, 169509579-169509580, 169509754-169509766, 169510269-169510275, 169510377-169510434, 169510499-169510539, 169511313-169511315, 169511527, 169511800-169511812, 169512093-169512102
51DARS210.895768833849332021938173794368-173794382, 173794398-173794410, 173794430-173794470, 173794490-173794494, 173795825-173795836, 173795871-173795881, 173797499-173797537, 173799870, 173819489-173819509, 173819533-173819566, 173819590-173819597, 173819616-173819617
52HMCN110.9931393423231611616908185984295, 185984377, 185984540-185984545, 185987439-185987442, 185987447, 186007091-186007112, 186007152-186007155, 186007973-186007980, 186008907-186008908, 186010149, 186010152, 186014851-186014865, 186014970, 186014973-186014982, 186017917-186017953, 186151418-186151419
53CFH10.905303030303033503696196654226, 196654237, 196658557-196658559, 196658589-196658594, 196658602, 196658609-196658611, 196658625-196658709, 196658716-196658744, 196659193-196659223, 196659237-196659239, 196659293, 196659300, 196659333-196659334, 196659337, 196659341-196659344, 196659357-196659369, 196682865-196682879, 196682921-196682926, 196682947-196682972, 196683003-196683024, 196684723-196684754, 196684790-196684806, 196684832-196684843, 196684854-196684855, 196684867-196684899
54CFHR110.69385699899295304993196788996-196788999, 196794652, 196794663, 196794732, 196794781, 196794785, 196794789-196794801, 196795959, 196795984-196796004, 196796032-196796065, 196796076-196796116, 196797204, 196797236-196797314, 196797342, 196797345, 196797357, 196799630-196799634, 196799666, 196799679, 196799731-196799739, 196799744, 196799792, 196800937-196800964, 196801005, 196801012-196801030, 196801042, 196801067-196801097, 196801126-196801129
55CFHR510.9982456140350931710196965202, 196967298, 196977753
56CRB110.9995261786306624221197316474, 197316491
57CD4610.9933333333333381200207930362-207930368, 207933000
58USH2A10.999359343968221015609215916634, 215972271, 215972343, 215972348, 216371893, 216371899, 216496848, 216496861, 216496956, 216496972
59PSEN210.97772828507795301347227071406-227071419, 227071480, 227071487, 227071592-227071604, 227071613
60ADCK310.9953703703703791944227149203, 227149208-227149212, 227152702, 227153417, 227169752
61GJC210.99166666666667111320228346268-228346272, 228346375-228346380
62ACTA110.98589065255732161134229567860-229567873, 229567921-229567922
63AGT10.9951989026063171458230845976-230845982
64LYST10.992284762405758811406235938322, 235950643-235950673, 235956803-235956820, 235956881, 235966355, 235967932, 235969150, 235969213-235969219, 235969222-235969229, 235969442, 235969745, 235971772, 235971977, 235971983, 235972487, 235972582, 235972592-235972598, 235972947-235972950, 235973803
65ACTN210.98808193668529322685236850000-236850001, 236850027-236850049, 236850053, 236850078, 236882267, 236882303, 236882307, 236882310-236882311
66MTR10.99078462348605353798237013782-237013783, 237013786, 237015847-237015848, 237024432-237024456, 237026761-237026765
67RYR210.9925523349436411114904237205838-237205842, 237729884-237729933, 237729968-237729981, 237730047-237730075, 237732445-237732446, 237881791, 237935364-237935368, 237942002, 237982450-237982452, 237982464
68FH10.858447488584472171533241661128-241661161, 241661179-241661199, 241661210-241661270, 241663737-241663741, 241663749-241663786, 241663869-241663875, 241663890, 241665784, 241665791, 241667448-241667450, 241667479-241667480, 241667524, 241669353-241669356, 241669359, 241669370, 241669376, 241671996, 241672005-241672008, 241672038-241672066, 241682925
69NET1100.9436069235064210117915454656-5454680, 5454701-5454727, 5454735-5454783
70PHYH100.98426745329416101713333852-13333860, 13333885-13333891
71DCLRE1C100.9951899951910207914976730-14976731, 14977478-14977484, 14977505
72CUBN100.9993561442236971087216893269, 16893373-16893376, 17088006, 17089546
73PTF1A100.985815602836881498723481525-23481537, 23481865
74MYO3A100.9849515563801373485126285450, 26357747-26357748, 26359058-26359069, 26359131-26359134, 26359258-26359307, 26500880-26500883
75MASTL100.9632157755024697263727454457-27454460, 27456149, 27458873, 27458886-27458892, 27459002-27459003, 27459114, 27459124-27459127, 27459174, 27459285-27459297, 27459320, 27459371-27459376, 27459401-27459410, 27459765-27459771, 27459863-27459864, 27460010-27460012, 27462067, 27462072-27462077, 27462084-27462092, 27462175, 27469957-27469969, 27470409-27470412
76RET100.9913303437967129334543572707-43572735
77ERCC6100.999553770638112448250714028, 50740820
78PCDH15100.996943453897118588955582213-55582219, 55582223, 55587198-55587200, 55587203-55587204, 55587210, 55591209, 55944908, 56287581-56287582
79CDH23100.99333731105807671005673439148, 73447404-73447419, 73447428-73447476, 73455273
80LDB3100.998626373626373218488476526-88476528
81BMPR1A100.9756097560975639159988683133-88683149, 88683351-88683357, 88683436, 88683463-88683476
82GLUD1100.89803220035778171167788811618-88811624, 88820807, 88822413-88822414, 88822489-88822496, 88836362-88836368, 88854083, 88854087-88854091, 88854102-88854108, 88854155, 88854158-88854166, 88854289, 88854303-88854304, 88854363-88854425, 88854450-88854465, 88854477, 88854480-88854484, 88854487, 88854493-88854526
83PTEN100.9727722772277233121289690804, 89690845-89690846, 89692903, 89692916-89692939, 89692996, 89711930, 89725227-89725229
84PDE6C100.996895615056278257795405722, 95405726-95405729, 95425117-95425119
85PLCE1100.999710522506882690996084654-96084655
86ZFYVE27100.999190938511331123699517404
87HPS1100.98860398860399242106100186983-100186998, 100189558, 100190336-100190342
88ABCC2100.998059508408894638101563815, 101591812-101591819
89CPN1100.9949164851125671377101829520-101829522, 101835689-101835692
90HPS6100.97637457044674552328103825378-103825386, 103825414, 103825421-103825427, 103825657-103825659, 103825671, 103825709, 103825725-103825727, 103825730-103825740, 103825808-103825813, 103825863-103825865, 103827437-103827446
91SUFU100.98419243986254231455104264011-104264032, 104264043
92CYP17A1100.9652914210871531527104590607-104590648, 104593810-104593820
93SHOC2100.924528301886791321749112724128-112724152, 112724200, 112724218-112724228, 112724303-112724314, 112724344-112724389, 112724431-112724434, 112724541, 112724546, 112724567-112724577, 112724670-112724671, 112724792-112724804, 112724817-112724818, 112745485, 112771473-112771474
94EMX2100.9868247694334710759119302938-119302940, 119302953-119302959
95FGFR2100.999593991067812463123256079
96HTRA1100.852390852390852131443124221169-124221299, 124221324, 124221327-124221394, 124221431-124221433, 124221480-124221488, 124221622
97OAT100.996969696969741320126086557, 126089539-126089541
98HRAS110.30175438596491398570532636-532755, 533454-533455, 533465-533466, 533470, 533480-533567, 533593, 533609-533612, 533766-533837, 533858-533872, 533904-533944, 534229-534231, 534237-534242, 534263-534299, 534309-534313, 534322
99TALDO1110.93293885601578681014747482-747519, 747571, 763344-763366, 763394-763399
100PNPLA2110.97095709570957441515819750, 819795-819825, 819863-819869, 819872-819876
101CTSD110.989507667473771312391785050-1785059, 1785062-1785064
102TNNT3110.657657657657662667771954968, 1954992, 1955006-1955067, 1955182-1955218, 1955224-1955238, 1955562-1955563, 1955587-1955602, 1955653-1955675, 1955776-1955798, 1955865-1955875, 1956081-1956089, 1956104-1956107, 1958193-1958212, 1959671-1959673, 1959682, 1959685-1959722
103IGF2110.552742616033763187112154217-2154260, 2154277-2154280, 2154287-2154298, 2154317-2154365, 2154388-2154398, 2154421-2154440, 2154768-2154778, 2154804-2154846, 2154870-2154895, 2156620, 2156697-2156720, 2156741-2156756, 2161371-2161392, 2161398-2161411, 2161432-2161450, 2161514-2161515
104TH110.5434920634920671915752185478-2185602, 2185620-2185622, 2186462-2186568, 2186898-2186923, 2186963-2186967, 2186972-2186973, 2187232-2187288, 2187710-2187779, 2187863-2187912, 2187920-2187998, 2188124-2188200, 2188236-2188262, 2188685-2188691, 2188706, 2189158-2189163, 2189747, 2189784-2189820, 2189834-2189864, 2189889, 2190881, 2191021-2191022, 2191037, 2191056, 2191967, 2191999
105KCNQ1110.8316100443131534220312466329-2466483, 2466497-2466571, 2466585-2466642, 2466654-2466658, 2466669-2466714, 2790109, 2790113-2790114
106CDKN1C110.412197686645645599512905258-2905259, 2905285-2905289, 2905900-2905908, 2905931-2905940, 2905946-2906059, 2906067-2906138, 2906144-2906212, 2906222-2906282, 2906322-2906436, 2906450, 2906453-2906485, 2906498-2906535, 2906595-2906622, 2906657, 2906669
107HBD110.9842342342342374445255652-5255658
108SMPD1110.991033755274261718966411931-6411947
109SBF2110.9650450450450519455509803147-9803170, 9806692-9806693, 9806745, 9806773-9806777, 9806780-9806781, 9806786, 9806799, 9806807-9806815, 9806818, 9806824, 9809206-9809254, 9809276-9809285, 9810668-9810669, 9810683-9810690, 9812117-9812152, 9817477-9817504, 9829557, 9861119, 9867208-9867214, 10215480, 10215531-10215534
110PDHX110.87649402390438186150634979050-34979057, 34979101-34979102, 34981967-34981997, 34982030-34982045, 34988276-34988288, 34991745-34991750, 34991780, 34991793-34991794, 34991815, 34999672, 35006220, 35016461-35016465, 35016468-35016478, 35016574-35016618, 35016628-35016670
111TMEM216110.99621212121212126461165331
112SLC22A12110.93140794223827114166264359170-64359177, 64359300, 64359387-64359398, 64360251-64360255, 64360267-64360270, 64360274, 64360277-64360289, 64360294, 64360928-64360934, 64361126, 64361181-64361185, 64361209, 64361267, 64367195, 64367198, 64367238-64367289
113PYGM110.99960458679321252964521036
114BBS1110.9893378226711619178266288756, 66288830-66288847
115AIP110.948640483383695199367257543, 67257628-67257673, 67257820, 67257823, 67258385, 67258391
116TCIRG1110.9775371038908956249367816719-67816732, 67817192-67817233
117LRP5110.9789603960396102484868080183-68080256, 68131362-68131367, 68216306, 68216314-68216327, 68216336, 68216409, 68216413, 68216516-68216519
118IGHMBP2110.99899396378273298268671477-68671478, 68701285
119DHCR7110.996498599439785142871146573-71146577
120MYO7A110.87861010830325807664876885824, 76885915-76885918, 76886466, 76888595-76888633, 76890091-76890175, 76890781-76890906, 76890913-76890980, 76890989-76890999, 76891420-76891425, 76891435-76891514, 76892461-76892523, 76892557-76892588, 76892595-76892635, 76892997-76893026, 76893045, 76893051, 76893054-76893058, 76893073, 76893084-76893091, 76893104-76893200, 76893473-76893474, 76893484-76893495, 76893499, 76893609-76893645, 76894119-76894121, 76894171-76894175, 76895646, 76895658, 76895694-76895736, 76900400, 76900501
121ALG8110.9765970904490837158177815039-77815040, 77815051, 77815421-77815429, 77817917-77817923, 77817966-77817968, 77820557, 77825335, 77838420-77838432
122TMEM126A110.99829931972789158885365252
123FZD4110.995043370508058161486666089-86666093, 86666100-86666102
124TYR110.955974842767370159088911304-88911306, 89017970-89017995, 89018031-89018035, 89018058-89018093
125MTMR2110.998964803312632193295657039, 95657069
126TRPC6110.902002861230332742796101347032-101347056, 101347207-101347217, 101353686-101353687, 101353694, 101353704, 101353731-101353761, 101353803-101353804, 101353811, 101359684-101359699, 101359709-101359795, 101359811-101359832, 101362295-101362311, 101362314, 101362317-101362319, 101362380-101362416, 101362454-101362458, 101362461-101362467, 101454078, 101454103, 101454174-101454176
127DYNC2H1110.9901892622634212712945103029672-103029676, 103031733, 103039488, 103039570-103039574, 103041018-103041019, 103043811-103043831, 103043928, 103043936, 103043969-103043970, 103075685, 103080648-103080654, 103090727, 103106469, 103191840-103191857, 103191880-103191894, 103194614-103194641, 103194665-103194676, 103194686, 103194712, 103194715, 103270454-103270455
128ATM110.96118198669723569171108098382, 108153565-108153576, 108155125, 108163440, 108164071-108164073, 108164160-108164163, 108170472-108170473, 108170572-108170579, 108170584, 108172506-108172516, 108173631-108173658, 108173701, 108175402, 108175412, 108175438-108175462, 108175484-108175518, 108175547, 108178654-108178655, 108178688-108178690, 108178694-108178708, 108180948-108180988, 108181025-108181030, 108181033-108181036, 108183197, 108186746-108186750, 108188118, 108188138-108188206, 108188211-108188212, 108188221, 108188224, 108188233-108188234, 108190725-108190755, 108196121-108196134, 108196897-108196917, 108198391
129ALG9110.9956427015250581836111728402-111728407, 111742096-111742097
130DLAT110.9974279835390951944111896386-111896387, 111910073-111910075
131TECTA110.99505027068832326465121058575-121058576, 121058637, 121058666, 121058677-121058681, 121059789-121059795, 121059867-121059876, 121060473-121060478
132ROBO3110.9985580389329564161124750448-124750453
133WNK1120.99678276682053237149862753-862759, 862888-862895, 862930-862932, 862989, 980498, 980510-980512
134CACNA1C120.997408931565311765612676759-2676765, 2676768, 2706651-2706652, 2794934-2794940
135VWF120.980217957829916784426122647-6122650, 6125328-6125344, 6125801-6125822, 6128260, 6128297-6128303, 6128479, 6128630-6128656, 6128749, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6132933-6132953
136ATN1120.9549398264763516135737043339-7043347, 7043431-7043435, 7043708-7043713, 7045879, 7045889-7045894, 7045897, 7045900, 7045903, 7045906, 7045936-7045940, 7046028-7046031, 7046034, 7046358-7046367, 7046406-7046413, 7046506-7046518, 7046551-7046613, 7046724, 7047034-7047041, 7047045, 7047058-7047061, 7047069-7047073, 7047126, 7047143, 7047166, 7048066-7048069
137GYS2120.999053030303032211221692201, 21699357
138LDHB120.9741293532338326100521790118-21790128, 21791358, 21791366-21791378, 21796917
139ABCC9120.989462365591449465021958991-21958994, 21962856-21962858, 21965011, 21965057, 21968755-21968767, 22063869, 22068649-22068671, 22068674, 22078994, 22089573
140KRAS120.92807017543864157025368462, 25380253-25380292
141FGD4120.90960451977401208230132735020-32735025, 32735053, 32735073-32735074, 32735139, 32754287-32754288, 32755145, 32763740, 32764078-32764080, 32764146-32764187, 32772747-32772783, 32777356-32777357, 32777362, 32778628-32778653, 32778662-32778681, 32778702, 32786553-32786559, 32786591-32786623, 32791591-32791595, 32791647-32791649, 32791696-32791698, 32791713-32791715, 32791720-32791721, 32793254, 32793323-32793326, 32793451
142DNM1L120.82180009045681394221132832321-32832326, 32832383-32832399, 32854463-32854496, 32860323-32860333, 32861127, 32861139, 32861142, 32866158, 32866185, 32866188-32866189, 32866222-32866280, 32866291, 32866300-32866305, 32871577-32871582, 32871625-32871665, 32871674-32871697, 32873687, 32875361-32875408, 32875427, 32875432-32875449, 32875455, 32875484-32875502, 32875515-32875558, 32886723-32886735, 32890059-32890095
143PKP2120.95982498011138101251432945359-32945365, 32945580, 32945643-32945645, 32949122, 32949136-32949139, 32955378-32955380, 32955400, 32955413-32955463, 33003710, 33003714-33003717, 33049443-33049445, 33049471-33049476, 33049534-33049537, 33049546-33049557
144KIF21A120.999398315282793498639745586-39745588
145LRRK2120.9916930379746863758440671745-40671775, 40677916-40677924, 40687352-40687354, 40687367-40687382, 40699620-40699622, 40702427
146MLL2120.9997592391958641661449425794-49425797
147DHH120.994962216624696119149484046-49484050, 49484057
148TUBA1A120.857456140350886545649522235-49522269, 49522445, 49522457, 49522468, 49522575, 49522578, 49522587, 49522602-49522625
149KRT81120.9446640316205584151852682999-52683005, 52683946, 52684040-52684051, 52684928-52684956, 52685165-52685198, 52685238
150KRT86120.9787816563997331146152695771-52695773, 52695994-52696000, 52696903-52696914, 52697008, 52697949-52697955, 52702191
151KRT83120.9682860998650547148252710276-52710312, 52713121-52713122, 52713126, 52713129, 52715020-52715025
152KRT6B120.94041297935103101169552843632-52843637, 52844351-52844354, 52845397-52845438, 52845571-52845577, 52845764-52845805
153KRT6C120.9486725663716887169552862906-52862915, 52863536, 52863660-52863666, 52865238, 52865295-52865300, 52866026-52866032, 52867056-52867069, 52867091-52867108, 52867321-52867334, 52867424, 52867457-52867463, 52867500
154KRT6A120.994690265486739169552884735, 52886490, 52886908-52886914
155RPS26120.747126436781618834856435951-56435953, 56436209-56436243, 56436277, 56436293, 56436340-56436381, 56437199-56437204
156MYO1A120.999361430395912313257431769, 57437923
157LEMD3120.998172514619885273665563434-65563437, 65563440
158LYZ120.950782997762862244769742208-69742210, 69742214-69742215, 69743951, 69743981-69743984, 69746005, 69746008, 69746025, 69746048, 69746943, 69746990-69746996
159BBS10120.998618784530393217276740412, 76740757-76740758
160CEP290120.9900537634408674744088476829, 88500637, 88504982, 88512301-88512327, 88513978-88513980, 88514830-88514833, 88519092-88519093, 88520095, 88522734, 88523523-88523524, 88523528, 88523531-88523535, 88530555-88530563, 88532922, 88535061-88535075
161HAL120.9934143870314113197496368114-96368126
162TMPO120.9712230215827360208598909792-98909796, 98909799-98909802, 98909833-98909844, 98909879-98909914, 98925554, 98925601, 98925616
163SLC17A8120.99265536723164131770100774494-100774500, 100774578-100774583
164SYCP3120.44725738396624393711102122705, 102122720-102122724, 102122739, 102122742, 102122751-102122753, 102122758, 102122894-102122897, 102122901, 102122932-102122991, 102125363-102125369, 102125398-102125400, 102125404-102125406, 102125415-102125416, 102125431, 102125434, 102125440-102125444, 102127353-102127358, 102127362-102127400, 102127405-102127424, 102127437-102127448, 102127451-102127452, 102128713-102128747, 102128769-102128800, 102128812-102128822, 102130815-102130849, 102131014, 102131024-102131076, 102131581-102131585, 102131588-102131589, 102131598-102131599, 102131608-102131646
165GNPTAB120.9992044550517133771102141007-102141009
166PAH120.97718910963944311359103310850-103310866, 103310891-103310904
167ATXN2120.842465753424666213942111926341, 111926379-111926424, 112036588-112036599, 112036603-112036656, 112036683-112036897, 112036903-112037168, 112037182, 112037185, 112037190, 112037195-112037197, 112037222-112037233, 112037275, 112037280-112037284, 112037292, 112037313-112037314
168SGCG130.965753424657533087623808804-23808832, 23853606
169SACS130.984497816593892131374023904658, 23905172-23905175, 23905228, 23905815, 23906346-23906348, 23907331-23907334, 23909753-23909758, 23909899, 23910876, 23910887-23910888, 23911433-23911440, 23911770-23911771, 23912012-23912013, 23912388, 23912394-23912396, 23912725-23912739, 23912777-23912788, 23912863-23912875, 23912878, 23912997-23913025, 23913166-23913169, 23913182, 23913388-23913397, 23913521-23913525, 23913617-23913625, 23915453, 23915713-23915725, 23928669-23928674, 23928809, 23929891, 23949268-23949317, 23949384, 23985365
170PDX1130.970657276995312585228494547-28494571
171B3GALTL130.9619238476953957149731774249-31774269, 31835083-31835097, 31835206-31835219, 31848720, 31850839-31850840, 31897903, 31897913-31897915
172BRCA2130.8575606902603114611025732903619, 32906409-32906413, 32906494, 32906559-32906577, 32906603-32906604, 32906617, 32906767, 32907007-32907013, 32907115-32907138, 32907257, 32907355, 32907361-32907365, 32907388, 32907399-32907406, 32907415-32907416, 32907420, 32907462-32907506, 32910402-32910415, 32910432-32910447, 32910452, 32910495-32910497, 32910507-32910508, 32910523-32910528, 32910533, 32910547-32910560, 32910596-32910607, 32910651-32910664, 32910705-32910736, 32910752-32910790, 32910837, 32910850-32910868, 32910919-32910929, 32910951-32910955, 32910964-32910970, 32910973, 32911008-32911020, 32911033-32911079, 32911101-32911117, 32911125-32911149, 32911199-32911212, 32911225-32911264, 32911285-32911291, 32911332-32911381, 32911396-32911414, 32911430-32911464, 32911474, 32911529-32911561, 32911580-32911598, 32911618, 32911621-32911647, 32911657, 32911678-32911698, 32911723-32911759, 32911821-32911857, 32911960-32911962, 32911979-32912005, 32912027-32912041, 32912074, 32912108-32912114, 32912141-32912168, 32912211-32912213, 32912216, 32912281, 32912305, 32912309-32912310, 32912317, 32912346-32912355, 32912380, 32912412-32912495, 32912502-32912505, 32912532-32912577, 32912612-32912613, 32912619, 32912623-32912637, 32912707, 32912730-32912778, 32912791-32912799, 32912822-32912845, 32912992, 32912998, 32913055, 32913068-32913071, 32913170, 32913219-32913248, 32913280, 32913348-32913351, 32913357-32913365, 32913382, 32913392-32913393, 32913418-32913425, 32913429-32913431, 32913457, 32913516-32913525, 32913530, 32913555-32913569, 32913585-32913598, 32913612, 32913637-32913638, 32913753-32913785, 32913800, 32913983-32913990, 32914057, 32914066-32914070, 32914099, 32914104-32914113, 32914127, 32914247-32914250, 32914284-32914287, 32914325, 32914363-32914372, 32914382, 32914422, 32914425-32914438, 32914648-32914659, 32914667-32914670, 32914678-32914681, 32914788, 32914837, 32914883-32914896, 32914923-32914991, 32915097, 32915208, 32915287-32915298, 32915325-32915330, 32918718-32918724, 32920987, 32920990, 32929158-32929171, 32953465, 32953940-32953941, 32954014, 32954268
173SPG20130.998500749625193200136909465, 36909782, 36909785
174FREM2130.9971608832807627951039261568-39261573, 39446947, 39450187, 39450263, 39451318, 39451323, 39452440-39452441, 39454445-39454456, 39454480, 39454625
175SLC25A15130.955849889624724090641367368, 41367377-41367378, 41367413-41367417, 41373397, 41373403-41373406, 41381444-41381463, 41382658-41382664
176SUCLA2130.9920977011494311139248528319, 48528379-48528388
177RB1130.89163975601005302278748916819-48916839, 48919221-48919231, 48919295-48919311, 48921961-48921965, 48921988, 48921995, 48923092-48923125, 48923148-48923159, 48934153-48934164, 48934220, 48934223-48934228, 48937073-48937074, 48939092, 48947541-48947548, 48951054-48951056, 48951081-48951098, 48953730, 48954189-48954192, 48954371-48954374, 48955425-48955432, 48955540-48955579, 49027151, 49027187-49027226, 49027236-49027247, 49030478, 49039173-49039210
178CLN5130.999183006535951122477566399
179EDNRB130.998495109104592132978492281, 78492284
180ZIC2130.881175734834271901599100634394-100634407, 100634413-100634416, 100634544-100634547, 100634553-100634562, 100634570, 100634584, 100634587-100634623, 100634682-100634697, 100634803, 100634809, 100634820-100634821, 100634825, 100634829-100634835, 100634838-100634843, 100634847, 100635008-100635010, 100635066-100635070, 100635181-100635184, 100637631, 100637665, 100637670, 100637673, 100637714, 100637729, 100637735-100637743, 100637758-100637761, 100637809, 100637826-100637853, 100637865-100637867, 100637891, 100637894-100637896, 100637913, 100637921-100637936
181PCCA130.9570187471422942187100741430, 100955243, 101020758-101020806, 101101508-101101533, 101101543-101101559
182FGF14130.998682476943351759102379100
183COL4A1130.99740518962076135010110850933-110850939, 110895076-110895081
184F7130.529588014981276281335113760156-113760219, 113765004-113765164, 113768083-113768090, 113768204-113768217, 113768257, 113768267-113768269, 113769974-113770042, 113770061-113770114, 113771080-113771099, 113771179-113771185, 113771189, 113771787-113771807, 113771848, 113771856-113771860, 113771871, 113772730-113772731, 113772734-113772754, 113772823-113772827, 113772854-113772862, 113772868, 113772876, 113772879, 113772895, 113772922-113772936, 113772947-113772983, 113773034-113773036, 113773082-113773105, 113773138-113773151, 113773155, 113773159, 113773168-113773177, 113773181, 113773207-113773209, 113773231, 113773242, 113773245, 113773248-113773253, 113773258-113773261, 113773285-113773319
185F10130.811179277436952771467113777170-113777190, 113777197-113777203, 113777210-113777223, 113777228, 113783768-113783776, 113783810, 113783813, 113783825-113783846, 113783898-113783917, 113795275, 113795278, 113795316, 113798211-113798239, 113798337-113798367, 113798374-113798402, 113798406-113798407, 113801737, 113801753, 113801758-113801761, 113803304, 113803309, 113803379-113803413, 113803432-113803438, 113803517-113803529, 113803535-113803545, 113803566, 113803570-113803579, 113803641, 113803699
186GRK1130.9994089834515411692114322289
187TEP1140.999365804160325788420851756, 20851761, 20851776-20851778
188PABPN1140.8729641693811111792123790711, 23790715-23790719, 23790723, 23790728-23790748, 23790858-23790899, 23790911, 23790930-23790941, 23790948-23790960, 23790993-23791010, 23791019, 23791022-23791023
189FOXG1140.82925170068027251147029236516-29236522, 29236659-29236672, 29236682-29236684, 29236698-29236725, 29236750-29236948
190COCH140.9885057471264419165331355084-31355085, 31355267-31355271, 31355290-31355291, 31355396, 31355498, 31358980-31358987
191CFL2140.976047904191621250135182179, 35182183, 35182499-35182505, 35183744-35183746
192FANCM140.98161704896698113614745636303-45636317, 45636324, 45642374, 45644340, 45644347-45644355, 45644359-45644360, 45644576, 45644581-45644588, 45644691-45644692, 45644839, 45645177, 45645381, 45645816, 45645820-45645823, 45650643-45650647, 45650681-45650683, 45650868, 45650895-45650908, 45652977, 45652981-45652983, 45652988-45652989, 45653034-45653046, 45653082-45653090, 45654492-45654493, 45654576, 45667849-45667859
193C14orf104140.9693715194908577251450092629-50092635, 50100285, 50100680, 50100683, 50100688-50100691, 50100701, 50100707, 50100719, 50100785, 50100796, 50100813, 50100818, 50100913, 50101094-50101134, 50101261-50101263, 50101347-50101352, 50101359, 50101364, 50101370, 50101536, 50101544
194L2HGDH140.80387931034483273139250713800-50713826, 50713839-50713842, 50713858, 50713919-50713925, 50745248-50745252, 50745263, 50750589-50750610, 50750627-50750751, 50769717, 50778731-50778795, 50778816, 50778840, 50778846-50778857, 50778868
195SYNE2140.990494113105581972072464483272, 64488083-64488091, 64488126-64488127, 64488169, 64488195-64488206, 64488210, 64488576-64488598, 64488625-64488632, 64488674-64488677, 64488702-64488705, 64489491, 64489503-64489504, 64489529-64489539, 64489550, 64490981-64490992, 64491647, 64491655, 64492054-64492065, 64494329, 64494332, 64494389-64494401, 64494502, 64494505, 64496677, 64496689, 64497787-64497789, 64497828-64497857, 64497924-64497925, 64497930, 64497976, 64497981, 64518465, 64518768-64518775, 64518969, 64519533, 64520280, 64608675, 64612794-64612798, 64612825-64612834, 64612872, 64612880, 64612937, 64625392, 64626141, 64626144
196EIF2B2140.9488636363636454105675470090-75470093, 75470096, 75470278, 75470282, 75471500-75471501, 75471509-75471515, 75471567-75471603, 75475769
197MLH3140.9910591471801939436275483807, 75483812, 75489594, 75497248-75497256, 75497338, 75497348-75497355, 75497379, 75497390, 75497403-75497405, 75498777, 75498824, 75498880-75498882, 75500132-75500139
198ESRRB140.984937786509523152776964686-76964708
199GALC140.9893100097181722205888407769-88407771, 88411924-88411927, 88412014-88412028
200SPATA7140.999444444444441180088857769
201TTC8140.9392764857881194154889291091-89291092, 89291127-89291164, 89310161-89310176, 89319368, 89336484, 89337972, 89341413, 89341432, 89343638-89343670
202FBLN5140.99925760950261134792353552
203ATXN3140.9686924493554334108692530724, 92537306, 92537347, 92559605, 92559635-92559662, 92560128, 92563076
204VRK1140.996641477749794119197304105-97304107, 97304121
205AMN140.574889867841415791362103390103-103390105, 103390111-103390112, 103390280-103390306, 103394763-103394764, 103394797-103394812, 103394824-103394844, 103395130-103395158, 103395168-103395174, 103395195-103395247, 103395272-103395280, 103395300, 103395458-103395465, 103395490-103395508, 103395563-103395569, 103395765-103395775, 103395832, 103395997, 103396008-103396022, 103396036-103396074, 103396261-103396269, 103396276-103396280, 103396304, 103396335-103396365, 103396371, 103396377, 103396403-103396409, 103396419-103396423, 103396534-103396615, 103396627-103396655, 103396743-103396754, 103396761-103396776, 103396808-103396830, 103396913-103396954, 103396974-103397017
206INF2140.96081473750105173767-105173769, 105173772-105173778, 105173910-105173977, 105173981, 105173997-105174028, 105174050-105174081, 105174104-105174106, 105174121
207NIPA1150.7222222222222227599023048837-23048847, 23048972-23048973, 23048993-23049038, 23049078, 23049094, 23049153, 23049189-23049194, 23049291-23049317, 23052615-23052616, 23086234-23086411
208UBE3A150.999619482496191262825584292
209ACTC1150.993827160493837113435083365-35083371
210CAPN3150.9930555555555617244842652096-42652102, 42652139, 42652212, 42652296-42652303
211TTBK2150.999464524765732373543044434-43044435
212STRC150.9872372372372468532843900150-43900156, 43906394-43906430, 43907745-43907751, 43908295-43908301, 43910437-43910443, 43910867-43910869
213STRC150.982564102564134195044007207-44007213, 44007737-44007763
214SPG11150.9926350245499254733244914122, 44914521, 44914529, 44918571, 44918637, 44918655, 44918658-44918665, 44925711-44925713, 44925726-44925729, 44943707-44943715, 44943720, 44943890-44943895, 44943908-44943911, 44949461-44949472, 44952724
215GATM150.999213836477991127245670616
216SLC12A1150.999090909090913330048537018, 48591408-48591409
217FBN1150.998026926648117861648936894, 48936951-48936966
218CEP152150.999395770392753496549076233, 49090179-49090180
219BBS4150.9794871794871832156072987518-72987519, 72987522-72987546, 73023655, 73024006-73024008, 73029176
220HCN4150.90337763012182349361273614881, 73614884-73614887, 73614895-73614896, 73614904-73614906, 73614925-73614927, 73614986-73615028, 73615053-73615060, 73615067-73615107, 73615127, 73615134, 73615165-73615172, 73615225-73615251, 73615368, 73615459-73615471, 73615475-73615483, 73615504, 73615738, 73615742, 73615888-73615905, 73616153, 73616159, 73616169, 73616510-73616548, 73660200, 73660204-73660205, 73660211, 73660216-73660235, 73660281-73660324, 73660364-73660365, 73660368-73660372, 73660413, 73660532-73660575, 73660593
221MPI150.999213836477991127275182891
222PSTPIP1150.83772981614708203125177310809-77310810, 77310837, 77324639-77324663, 77327849-77327897, 77328143, 77328172-77328173, 77328183-77328193, 77328199, 77328226, 77328268, 77329386-77329494
223FAH150.997619047619053126080445459-80445460, 80445463
224RPS17150.90931372549023740882823387-82823393, 82824469-82824498
225RPS17150.90931372549023740883207730-83207736, 83208812-83208841
226FANCI150.998745924253825398789820041, 89820120-89820122, 89825036
227POLG150.997580645161299372089876825-89876833
228BLM150.9233662435355326425491303378, 91303443, 91304164, 91304416, 91304463, 91304478, 91337410, 91337413-91337485, 91337513-91337515, 91337532-91337562, 91337571-91337587, 91341476-91341508, 91341546-91341567, 91346751-91346754, 91346788-91346790, 91346814-91346847, 91346876, 91346884-91346900, 91346940-91346950, 91347397-91347406, 91347429-91347440, 91347456, 91347463-91347470, 91347493-91347504, 91347539-91347557, 91347561, 91347583-91347589
229IGF1R150.999756335282651410499192902
230HBZ160.31701631701632293429202916-202917, 202936, 203891-204009, 204016-204095, 204271-204272, 204278-204343, 204377-204399
231HBM160.7840375586854592426216002-216043, 216311-216335, 216343, 216407, 216412-216419, 216439-216449, 216605-216607, 216640
232HBA2160.897435897435944429222923-222927, 222931, 222935, 222942-222943, 222950, 222968-222999, 223243, 223305
233CLCN7160.992142266335811924181524863-1524868, 1524903-1524915
234GFER160.97411003236246166182034281-2034282, 2034342-2034348, 2034430-2034434, 2034443-2034444
235TSC2160.844579646017784354242098617-2098622, 2098698-2098742, 2100401-2100422, 2103391-2103394, 2103397-2103398, 2103420-2103424, 2133696-2133718, 2133731-2133736, 2133755-2133784, 2133804-2133817, 2134236-2134244, 2134253, 2134261-2134276, 2134296-2134331, 2134364-2134407, 2134432-2134555, 2134569-2134577, 2134583, 2134587-2134589, 2134595-2134596, 2134614-2134652, 2134669-2134670, 2134700-2134709, 2134952-2134958, 2134978-2134980, 2134985-2134994, 2135004-2135005, 2135019-2135027, 2135231-2135236, 2135242-2135244, 2135298-2135311, 2135315-2135316, 2136194, 2136197-2136229, 2136257, 2136272, 2136276-2136280, 2136297, 2136343-2136380, 2136762-2136772, 2136781-2136787, 2136812-2136813, 2136822-2136855, 2136869-2136872, 2137873-2137887, 2137892, 2137894-2137910, 2137921-2137942, 2138051-2138097, 2138122-2138129, 2138269, 2138313-2138326, 2138447-2138457, 2138502, 2138514, 2138517-2138541, 2138550-2138582
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243OTOA160.997953216374277342021756211-21756217
244OTOA160.9929718875502799622572334-22572340
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248TUFM160.9276315789473799136828856774, 28857263-28857270, 28857333, 28857382-28857422, 28857539-28857548, 28857553-28857590
249ATP2A1160.998669328010654300628895897, 28895901-28895902, 28900138
250CD19160.998204667863553167128948370-28948372
251PHKG2160.7993447993448245122130760142-30760160, 30760168, 30760180-30760236, 30762427-30762430, 30762517, 30762565, 30762575, 30762885, 30764563-30764613, 30764717-30764741, 30764751-30764752, 30764785-30764825, 30764849-30764851, 30764869, 30767503-30767504, 30767911-30767915, 30767921, 30767925, 30767928-30767929, 30767937-30767938, 30767950, 30768004-30768006, 30768165, 30768168, 30768301, 30768306-30768321, 30768325
252FUS160.9816571790006329158131195689-31195717
253PHKB160.9966483851310211328247495298-47495302, 47621607, 47628123-47628125, 47630419-47630420
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255CYLD160.996855345911959286250785612-50785616, 50785632-50785633, 50785752, 50785755
256SALL1160.9969811320754712397551175413-51175415, 51175681-51175689
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259SLC12A3160.95602974458455136309356919214-56919216, 56920943-56920985, 56921840-56921865, 56921881-56921943, 56926913
260COQ9160.99373040752351695757481443-57481448
261TK2160.7911255411255419392466582889-66582912, 66583844-66583846, 66583852, 66583856-66583866, 66583869, 66583891-66583931, 66583934, 66583951-66584018, 66584022-66584030, 66584045-66584049, 66584062-66584090
262HSD11B2160.89162561576355132121867465152-67465155, 67465174-67465179, 67465187-67465305, 67465332-67465334
263CDH3160.998795180722893249068721584-68721586
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265COG8160.94018488308864110183969364742, 69364798-69364816, 69364827, 69373123-69373129, 69373221-69373280, 69373283, 69373322, 69373402-69373421
266AARS160.999312005503962290770299554, 70299558
267TAT160.9428571428571478136571606193-71606202, 71606465-71606477, 71607473-71607477, 71609830-71609866, 71610113-71610124, 71610295
268HP160.9885339885339914122172090442-72090455
269GCSH160.879310344827596352281129738-81129739, 81129750-81129753, 81129764-81129766, 81129797-81129800, 81129808-81129822, 81129831-81129834, 81129843-81129873
270GAN160.90914158305463163179481348745, 81348755-81348763, 81348783-81348810, 81348847-81348854, 81388036-81388072, 81388215-81388233, 81388253-81388288, 81388322-81388346
271MLYCD160.72064777327935414148283932750-83932758, 83932764-83932765, 83932784-83932895, 83932906-83932919, 83932934-83932956, 83932987-83933020, 83933051-83933057, 83933073-83933126, 83933135-83933178, 83933201-83933234, 83945890-83945898, 83948736-83948778, 83948812-83948815, 83948832, 83948919-83948934, 83948962-83948964, 83948995-83948999
272FOXF1160.997368421052633114086544211-86544213
273FOXC2160.92961487383798106150686601962-86601999, 86602013-86602014, 86602025-86602061, 86602073-86602082, 86602264-86602279, 86602439-86602441
274APRT160.7771639042357312154388876169-88876176, 88876195, 88876214, 88876221-88876232, 88876531, 88876536, 88876556, 88878022, 88878026-88878053, 88878241-88878307
275GALNS160.9643084767367756156988884417, 88884422, 88884463-88884499, 88889099, 88889102, 88889108, 88891266-88891277, 88923182, 88923265
276SPG7160.95644891122278104238889574826-89574856, 89574865-89574894, 89574911, 89574936-89574968, 89574997-89574999, 89576946-89576948, 89576952-89576953, 89598367
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278PAFAH1B1170.978913219789132612332541601-2541614, 2569310-2569315, 2570444-2570446, 2579799-2579800, 2579846
279CTNS170.8960931005818812512033559781-3559846, 3559880, 3559970-3559985, 3559988-3559990, 3559993-3559994, 3560079-3560089, 3561300-3561324, 3563944
280PITPNM3170.9572649572649612529256358658-6358661, 6358685-6358740, 6358755-6358764, 6358782, 6358787-6358801, 6358832-6358833, 6358854, 6358935-6358937, 6358948-6358958, 6459705-6459726
281HES7170.96607669616519236788024951-8024973
282MYH8170.998796009631927581410298752-10298758
283MYH3170.96153185643139224582310543119, 10543390-10543397, 10543487-10543491, 10544450, 10544602-10544631, 10545773-10545779, 10547744-10547750, 10549024-10549029, 10549317-10549342, 10552916-10552954, 10552984, 10553698-10553718, 10554829-10554851, 10554909, 10554954, 10555737-10555753, 10555803-10555816, 10555880, 10558255-10558269
284TNFRSF13B170.918367346938787288216843775-16843778, 16852052, 16852233-16852247, 16855795-16855840, 16855867, 16855874, 16855878-16855881
285FLCN170.9885057471264420174017117129, 17131238-17131256
286MYO15A170.9998111960728821059318062660-18062661
287ALDH3A2170.9810085134250229152719559785-19559794, 19559797, 19559847-19559855, 19561131-19561138, 19575183
288SLC6A4170.999471737982041189328543233
289NF1170.97335680751174227852029422341-29422383, 29508485-29508507, 29508771-29508775, 29509680-29509683, 29527500-29527528, 29527556, 29528139-29528151, 29533320-29533323, 29546070-29546076, 29556079-29556121, 29663891-29663892, 29665793-29665795, 29665808, 29667603, 29667610, 29667617, 29677202-29677210, 29677215, 29677276-29677290, 29677296-29677297, 29677334, 29679333, 29679362, 29679369, 29679414-29679426, 29684335, 29684338
290KRT10170.90655270655271164175538975077-38975186, 38975206-38975209, 38975267-38975275, 38975287, 38975290-38975291, 38975297, 38975301-38975302, 38975305-38975315, 38975324-38975330, 38975334, 38975341-38975354, 38975817-38975818
291KRT14170.907681465821131141939738757-39738763, 39739487-39739515, 39739534, 39739544, 39741304-39741309, 39742829-39742872, 39742998-39743030, 39743077-39743086
292KRT16170.964838255977550142239766280-39766281, 39768490-39768496, 39768706-39768746
293KRT17170.931485758275689129939776976, 39777974-39777996, 39780414-39780440, 39780504-39780540, 39780761
294STAT5B170.93950930626058143236440359576-40359581, 40359602-40359607, 40362233-40362241, 40362291-40362292, 40362299, 40362421-40362422, 40362502-40362515, 40364022-40364024, 40364072-40364073, 40364077-40364079, 40364161-40364197, 40368098-40368100, 40369199-40369203, 40369245-40369253, 40369445-40369455, 40369461, 40370193, 40370242-40370243, 40370345, 40371438-40371461, 40384058
295NAGLU170.999551971326161223240688591
296BRCA1170.9932802829354638565541219656-41219661, 41223052-41223053, 41231351-41231359, 41244374, 41245521-41245526, 41245683, 41245768-41245777, 41245952, 41246822, 41246840
297GRN170.79068462401796373178242426882-42426888, 42427057-42427064, 42427070-42427071, 42428125-42428168, 42429085-42429096, 42429121, 42429388-42429413, 42429420-42429445, 42429471-42429474, 42429525-42429559, 42429580-42429586, 42429736-42429750, 42429765-42429794, 42429871, 42429881-42429932, 42430029-42430080, 42430116-42430166
298PLEKHM1170.9801324503311363317143516861-43516867, 43527984-43527985, 43545750-43545756, 43552520, 43552871-43552877, 43555446-43555484
299RAD51C170.9451812555260862113156770035, 56770052, 56770058-56770060, 56780616-56780644, 56780674-56780690, 56798107-56798117
300TRIM37170.9910189982728826289557105898-57105923
301BRIP1170.995218375059760777, 59763347, 59763496-59763502, 59763515-59763519, 59885999, 59886002-59886004
302ACE170.9846977811782760392161554482-61554525, 61554557-61554568, 61554581-61554582, 61554657, 61574575
303GH1170.99082568807339665461995260-61995265
304SCN4A170.999818544728721551162043465
305COG1170.9789330615018762294371189451-71189502, 71199255-71199259, 71199801-71199805
306GALK1170.9906700593723511117973761171-73761181
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309SEPT9170.92788188529245127176175478258, 75478286-75478306, 75478350-75478356, 75478369, 75483553-75483562, 75483625-75483628, 75484898-75484918, 75484929, 75484939-75484946, 75494631-75494647, 75494665-75494667, 75494671-75494676, 75494693-75494719
310GAA170.9727177334732478285978078575, 78078696, 78078705-78078729, 78081622, 78082141, 78082497-78082498, 78090865-78090869, 78091405, 78091458, 78091480-78091506, 78092020, 78092140-78092150, 78092573
311SGSH170.996686547382375150978190873, 78194086-78194089
312FSCN2170.7079107505071432147979495734-79495746, 79495770-79495782, 79495920, 79495985-79495997, 79496002, 79496103, 79496132-79496179, 79496350, 79496356-79496364, 79496368, 79502085-79502118, 79503176-79503216, 79503673, 79503695-79503735, 79503760-79503799, 79503901-79503953, 79503971-79504091
313AFG3L2180.9945697577276513239412358937-12358938, 12376971-12376978, 12377043-12377045
314MC2R180.99888143176734189413884816
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318DSC2180.996674057649679270628662289, 28662359-28662364, 28662959, 28662962
319DSG2180.9937444146559421335729078231-29078251
320LOXHD1180.98176612417119121663644104532-44104539, 44126858-44126865, 44126897, 44126909, 44126920-44127021, 44174395
321MYO5B180.998918334234726554747429028-47429030, 47429033-47429035
322SMAD4180.9933694996986111165948604653-48604663
323FECH180.997674418604653129055218057-55218059
324LMAN1180.9934768427919110153357005789-57005795, 57006183-57006185
325CCBE1180.9991809991811122157133987
326MC4R180.998998998999199958038723
327TNFRSF11A180.9632631010264768185159992588-59992644, 59992650-59992660
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429AGPS20.9994941831057211977178301535
430PRKRA20.998938428874731942179315720
431TTN20.99817452717261183100248179499171-179499176, 179510654, 179510667-179510677, 179514901-179514917, 179514980, 179517194-179517226, 179517252-179517258, 179523930-179523960, 179527751-179527776, 179536890, 179537196-179537198, 179540696, 179540709-179540710, 179547529-179547530, 179552946, 179633446, 179634650, 179634653-179634655, 179634885, 179638336-179638344, 179642692-179642693, 179643638-179643640, 179644018-179644020, 179648478, 179664632, 179665134-179665145, 179666887, 179666897, 179666900
432CERKL20.936835522201381011599182403849-182403854, 182412574, 182438488-182438500, 182468589-182468591, 182468644-182468673, 182468701-182468725, 182468765-182468785, 182468789, 182468803
433COL3A120.964326289479661574401189849509-189849516, 189849519-189849521, 189849566-189849581, 189849672-189849680, 189849966-189849973, 189850438-189850441, 189850461-189850484, 189851785, 189851814-189851817, 189851824-189851832, 189852851, 189854139-189854172, 189855730-189855735, 189856213-189856222, 189856395-189856402, 189856405, 189858111-189858117, 189859009, 189859534-189859535, 189872613
434PMS120.9996427295462712799190732614
435HSPD120.98954703832753181722198361982-198361988, 198362040, 198362115-198362116, 198363445-198363447, 198363504, 198363510-198363513
436CASP1020.999362651370311569202050677
437ALS220.9983916365098584974202571622-202571623, 202571644, 202593333, 202593338, 202598025, 202598057, 202598116
438BMPR220.9971126082771993117203329535, 203378473, 203379678-203379684
439NDUFS120.998168498168542184206991267, 206991469, 206991498-206991499
440FASTKD220.887482419127992402133207631468, 207631489, 207631494-207631508, 207631570, 207631641-207631670, 207631684-207631699, 207631719-207631733, 207631881-207631917, 207632052-207632095, 207632117-207632126, 207635952-207635967, 207636618-207636622, 207636657-207636658, 207636983-207637012, 207652723-207652728, 207652827-207652836, 207652876
441ACADL20.9992266047950511293211081202
442CPS120.99666888740839154503211512677-211512690, 211541830
443ABCA1220.986902927580891027788215798878, 215818605, 215818790, 215821387-215821425, 215821442, 215823093-215823098, 215823130-215823150, 215854098-215854117, 215854151-215854153, 215854180, 215854183-215854187, 215854288, 215910633, 215976356
444SMARCAL120.9986038394415442865217340035, 217340049, 217340052, 217340057
445PNKD20.9982728842832521158219205471, 219209561
446OBSL120.99209277807064455691220417326-220417329, 220417332, 220417335, 220417609-220417615, 220435674, 220435693, 220435737-220435754, 220435909-220435915, 220435950-220435954
447COL4A420.9982227488151795064227906874, 227915832, 227942691-227942697
448COL4A320.97386794334731315013228173615-228173626, 228173669, 228173674-228173675, 228173686-228173687, 228173938-228173993, 228175518-228175519, 228175552-228175555, 228175558, 228176502-228176505, 228176526-228176572
449SLC19A320.9993293091884611491228564033
450CHRND20.99613899613961554233390952-233390957
451CHRNG20.95559845559846691554233404480-233404487, 233404827, 233404832-233404841, 233405094-233405095, 233409092-233409106, 233409170-233409181, 233409251-233409252, 233409583-233409601
452COL6A320.99370673379484609534238280446-238280450, 238303419-238303438, 238303607-238303622, 238303658-238303660, 238303818-238303833
453D2HGDH20.86398467432952131566242707125-242707164, 242707179-242707220, 242707232-242707282, 242707305-242707384
454C20orf54200.9992907801418411410744450
455AVP200.81010101010101944953063300-3063318, 3063331-3063376, 3063413-3063418, 3063421-3063428, 3063444-3063448, 3063647-3063654, 3063693-3063694
456PANK2200.9176882661996514117133869868, 3869884, 3869970, 3869992, 3870102-3870136, 3870169-3870203, 3870205-3870219, 3870229-3870262, 3870284-3870285, 3870291-3870303, 3870307, 3870312, 3888856
457PRNP200.95538057742782347624680046, 4680088-4680108, 4680213, 4680238, 4680251, 4680516-4680523, 4680608
458FERMT1200.99901671583088220346088194, 6088199
459JAG1200.9841400054689658365710653394-10653400, 10653448-10653472, 10653495-10653508, 10654151-10654162
460C20orf7200.9682080924855533103813765721, 13765748, 13765780-13765784, 13769283-13769290, 13782259-13782276
461THBD200.9369212962963109172823028676, 23028707-23028708, 23028735-23028737, 23028770-23028774, 23028961-23028963, 23029094-23029100, 23029141-23029174, 23029208, 23029332-23029334, 23029345, 23029372-23029395, 23029466, 23029542-23029545, 23029582-23029591, 23029677-23029678, 23029681-23029687, 23030079
462SNTA1200.85573122529644219151832031149-32031189, 32031203-32031244, 32031291-32031426
463SAMHD1200.9771398192450843188135521424-35521439, 35526314-35526336, 35563475-35563478
464HNF4A200.9929824561403510142543047098-43047103, 43052773-43052776
465CTSA200.995323981295937149744520238-44520244
466CD40200.99880095923261183444747002
467SALL4200.999367488931062316250401054, 50408345
468GNAS200.9958253050738613311457429627, 57429688-57429699
469COL9A3200.9756690997566950205561448425-61448437, 61456351-61456358, 61458149, 61461745, 61461756, 61461900-61461902, 61463534-61463541, 61467540-61467553, 61468571
470CHRNA4200.49522292993631951188461978147-61978149, 61978195-61978197, 61978200, 61978202, 61978208-61978215, 61981005-61981129, 61981134, 61981170-61981216, 61981222, 61981236-61981244, 61981250-61981262, 61981277-61981279, 61981292-61981348, 61981360-61981386, 61981397, 61981400, 61981414-61981415, 61981439, 61981451-61981484, 61981517, 61981536, 61981539-61981540, 61981554, 61981572-61981639, 61981673-61981677, 61981700-61981706, 61981723-61981763, 61981773-61981802, 61981949-61981959, 61981980, 61982085, 61982090, 61982107, 61982110-61982112, 61982124, 61982161-61982195, 61982247, 61982291-61982312, 61987327-61987436, 61987726-61987767, 61990900-61991051, 61992442-61992517
471KCNQ2200.78388697976327566261962073771-62073795, 62073821-62073849, 62076012-62076048, 62076065-62076094, 62076118-62076124, 62076152-62076187, 62076592-62076604, 62076607, 62076626-62076632, 62076635, 62076646-62076697, 62076714-62076717, 62078110, 62078113, 62078119-62078122, 62078126-62078146, 62078171, 62103521-62103816
472SOX18200.67705627705628373115562679937, 62680085, 62680091, 62680094-62680096, 62680103, 62680162, 62680165-62680168, 62680171-62680173, 62680512-62680869
473APP210.9952442715088611231327284123, 27326917-27326920, 27328023, 27542901-27542905
474IFNGR2210.9349112426035566101434775850-34775915
475KCNE2210.99462365591398237235742838, 35742846
476RCAN1210.8168642951251613975935987059-35987068, 35987132-35987205, 35987248-35987299, 35987308-35987310
477HLCS210.999541494727191218138309104
478TMPRSS3210.99926739926741136543805637
479AIRE210.99938949938951163845712977
480ITGB2210.99696969696977231046308756-46308758, 46309268-46309270, 46309361
481COL18A1210.95042735042735261526546910201-46910222, 46910248-46910251, 46911139-46911140, 46911166-46911168, 46911186-46911190, 46911215, 46913459-46913479, 46914469, 46914779-46914805, 46915287-46915292, 46916452-46916458, 46916475, 46916964-46916995, 46917513-46917521, 46917539-46917569, 46923925-46923928, 46923946-46923948, 46923961, 46923967, 46924426-46924452, 46925048-46925050, 46925137-46925164, 46925180, 46925755-46925771, 46925834-46925837
482COL6A1210.84969225785552464308747401765-47401859, 47402548, 47402568-47402576, 47402596-47402652, 47402670-47402677, 47404183-47404193, 47404212-47404215, 47404230-47404383, 47406858-47406897, 47406928-47406951, 47406976-47406986, 47407430-47407433, 47407524-47407568, 47409670
483COL6A2210.83692810457516499306047531403-47531405, 47531409, 47531418-47531502, 47531895-47531902, 47531926, 47531930-47531937, 47532004, 47532008-47532023, 47532201, 47532277, 47532283, 47532311-47532315, 47536571-47536580, 47536585, 47538528-47538535, 47539702-47539706, 47540446-47540458, 47541025, 47545699-47545704, 47545983-47545984, 47546005, 47546008-47546009, 47551881-47551882, 47551896-47551985, 47552006-47552038, 47552062-47552100, 47552114-47552162, 47552201-47552247, 47552279-47552294, 47552321-47552349, 47552360, 47552393, 47552398, 47552405-47552414, 47552418
484COL6A2210.6461988304093612134247552201-47552247, 47552279-47552294, 47552321-47552349, 47552360, 47552393, 47552398, 47552405-47552414, 47552418, 47552474, 47552478-47552491
485FTCD210.52644526445264770162647556901-47556922, 47556935-47556965, 47556970-47556977, 47557153-47557156, 47557170, 47557205-47557220, 47557228-47557248, 47558422-47558455, 47558462-47558560, 47558800-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570048-47570049, 47570055, 47570084-47570113, 47570153-47570164, 47570317-47570326, 47571492, 47571515-47571521, 47571632, 47571640, 47571649, 47571840, 47571843-47571858, 47571887, 47574070-47574088, 47574133-47574151, 47574189-47574207, 47575430
486PCNT210.999100988912291001147777063, 47783699-47783706
487PRODH220.9667221297836960180318905964, 18923564, 18923623-18923629, 18923670, 18923696-18923712, 18923718-18923748, 18923763, 18923791
488GP1BB220.09178743961352756462119711093-19711102, 19711377-19711441, 19711448-19711597, 19711615-19711919, 19711936-19711937, 19711956-19711987
489TBX1220.78360215053763322148819748428-19748568, 19748575-19748582, 19753347, 19753497-19753508, 19753912-19753930, 19753939-19753996, 19754002-19754049, 19754069-19754071, 19754078, 19754085, 19754185-19754193, 19754297, 19754309, 19754339-19754357
490SMARCB1220.993955094991367115824129432-24129438
491HPS4220.999053030303032211226860003-26860004
492CHEK2220.91084611016468157176129083906-29083917, 29083932-29083966, 29085135-29085172, 29091837-29091844, 29107917-29107923, 29115443-29115448, 29121045-29121051, 29121337, 29126410, 29126429-29126431, 29126448-29126483, 29130672-29130674
493DRG1220.993659420289867110431816384, 31816389-31816394
494LARGE220.9942756494936213227133777915-33777927
495TRIOBP220.94195548041702412709838119742, 38119753-38119757, 38119759, 38119766-38119767, 38119798-38119818, 38119856-38119905, 38119979, 38120009-38120052, 38120065, 38120123-38120129, 38120173-38120199, 38120246-38120277, 38120297-38120346, 38120417-38120450, 38120467-38120483, 38120543-38120576, 38120794-38120810, 38120837-38120869, 38120918-38120951, 38122462
496PLA2G6220.1615541922290441048938508274-38508279, 38508300-38508312, 38508511-38508584, 38509494-38509513, 38509522-38509538, 38509545-38509703, 38509715-38509748, 38509751-38509752, 38509769-38509827, 38509844-38509869
497PLA2G6220.7480380008261610242138508169-38508279, 38508300-38508312, 38508511-38508584, 38509494-38509513, 38509522-38509538, 38509545-38509661, 38511539-38511688, 38512082-38512106, 38512141-38512189, 38512195-38512215, 38512217-38512218, 38519137, 38519155, 38519226-38519228, 38519259-38519262, 38522429, 38522435
498ADSL220.9848797250859122145540742575, 40742587, 40745936-40745954, 40746009
499TNFRSF13C220.6630630630630618755542322105-42322106, 42322111, 42322156, 42322174-42322304, 42322321-42322322, 42322660, 42322674-42322680, 42322692-42322693, 42322701-42322729, 42322762-42322772
500NAGA220.9870550161812316123642456986, 42457002, 42457006-42457015, 42466293-42466296
501CYB5R3220.99889624724062190643027384
502ATXN10220.945378151260578142846067946-46068011, 46068043-46068044, 46068050-46068059
503TRMU220.9502369668246463126646731671-46731725, 46731731-46731738
504ALG12220.85344239945467215146750297530, 50297621, 50297624-50297626, 50297631, 50297991-50297992, 50298022, 50298069, 50298154, 50301393-50301395, 50301401, 50301431, 50301470, 50301513-50301582, 50301591, 50303602, 50303648, 50303666-50303696, 50304082-50304096, 50304154-50304183, 50307315, 50307351-50307398
505MLC1220.9276895943562682113450502463-50502488, 50502506-50502512, 50502579-50502627
506ARSA220.9993438320211152451064416
507SHANK3220.757055682684971274524451113070-51113132, 51113476-51113679, 51115050-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117608, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133325, 51133366-51133379, 51135953-51136143, 51158796-51158800, 51158865, 51158881, 51158929, 51159024-51159026, 51159029-51159030, 51159142-51159147, 51159245, 51159324-51159329, 51159938, 51160556-51160564, 51169566-51169572, 51169681
508SUMF130.99911111111111111254403837
509FANCD230.96829710144928140441610114633-10114635, 10114651-10114665, 10114941-10114947, 10115038-10115040, 10115043-10115046, 10122827, 10122896, 10123030-10123046, 10123122, 10127555, 10128940, 10130158, 10130173-10130174, 10130591-10130597, 10131980-10132035, 10132058-10132069, 10133930-10133936, 10136902
510VHL30.98598130841122964210183725-10183733
511PPARG30.996706192358375151812422986-12422990
512RAF130.9912686183872617194712645685-12645691, 12650732-12650734, 12653466-12653472
513BTD30.9810049019607831163215643371-15643401
514GLB130.999016715830882203433138538, 33138544
515MLH130.996917657419647227137059009-37059015
516TMIE30.925690021231423547146751070-46751104
517LAMB230.94571057995183293539749158878-49158884, 49158953, 49159019-49159024, 49159254, 49159427, 49159447, 49159460-49159465, 49159475, 49159504-49159505, 49160228, 49160250-49160285, 49160302, 49160434, 49160579, 49160582-49160589, 49160655, 49160754-49160761, 49160899, 49160923, 49160926, 49161452, 49161459-49161460, 49161509-49161510, 49161660, 49161700-49161702, 49162004-49162037, 49162162-49162182, 49162236, 49162691-49162694, 49162728, 49162816-49162830, 49162880-49162891, 49163849, 49166200, 49167037-49167038, 49167079, 49167301-49167341, 49167384, 49167685, 49167712, 49167830, 49167835-49167841, 49168404, 49168407, 49168441, 49168547, 49168861-49168862, 49169008-49169010, 49169013-49169017, 49169021, 49169112-49169122, 49169707-49169725, 49170252, 49170263-49170269
518TKT30.99572649572658187253289889, 53289951-53289957
519HESX130.935483870967743655857232240, 57232243-57232250, 57232255-57232265, 57232419-57232425, 57233806-57233809, 57233836-57233840
520FLNB30.98155973876297144780957994307, 57994360-57994405, 57994424, 57994428-57994448, 57994451, 57994468-57994486, 57994520-57994574
521ATXN730.92882311486963202283863898309-63898310, 63898319-63898328, 63898333, 63898343, 63898350, 63898354-63898384, 63898413-63898568
522PROK230.98974358974359439071834147-71834150
523GBE130.998577524893313210981695629, 81699064-81699065
524CHMP2B30.91900311526485264287294871-87294876, 87294922, 87294975, 87295029, 87295043-87295049, 87302597-87302622, 87302928-87302931, 87302936-87302938, 87302969-87302971
525POU1F130.957023060796654195487309064, 87309075-87309076, 87309107, 87311310-87311312, 87311327-87311358, 87313515, 87313526
526PROS130.92269817823732157203193595814-93595859, 93595929, 93595935-93595966, 93596001-93596022, 93598094-93598101, 93598140-93598146, 93605190-93605227, 93617326-93617327, 93617334
527ARL13B30.7995337995338258128793758724-93758727, 93758737-93758738, 93761859-93762084, 93768250-93768263, 93768314-93768323, 93768366, 93769712
528ARL630.9982174688057156197506873
529CPOX30.9912087912087912136598312200-98312211
530HGD30.98355754857997221338120365191-120365210, 120365863, 120369626
531IQCB130.9955481357818681797121526204, 121526238-121526239, 121547422-121547426
532UMPS30.95426195426195661443124453940-124453946, 124454083-124454093, 124456538, 124456636-124456666, 124456768-124456773, 124456847, 124456850, 124456875-124456882
533CNBP30.988764044943826534128890024-128890025, 128890033, 128890350, 128890358, 128890535
534ATP2C130.98771929824561352850130675016-130675023, 130683792, 130686020, 130715604-130715622, 130716551-130716556
535NPHP330.889807162534444403993132411546-132411555, 132411610-132411626, 132431990-132431998, 132432002, 132437838-132437857, 132437885, 132438566-132438573, 132438600-132438645, 132438662, 132438666-132438674, 132440814-132440880, 132440904-132440960, 132440975-132440989, 132440995-132441089, 132441109-132441143, 132441151-132441199
536PCCB30.9981481481481531620135979330-135979332
537FOXL230.9938107869142471131138664876-138664882
538MRPS2230.9935364727608571083139067091, 139067139-139067144
539PLOD230.99341238471673152277145828186-145828200
540HPS330.998341625207353015148875138, 148877912-148877914, 148878005
541IFT8030.9978522336769852328159986251-159986252, 159995414, 159996982, 160099465
542PLD130.99162790697674273225171431806-171431809, 171451235, 171452656-171452659, 171455448-171455449, 171455702-171455717
543GHSR30.94096276112625651101172163153-172163155, 172163228-172163234, 172165640, 172165643-172165648, 172165787, 172165792, 172165841, 172166078-172166079, 172166082-172166103, 172166183-172166203
544DNAJC1930.994301994301992351180702439, 180705980
545MCCC130.9967860422405972178182804495-182804501
546EIF2B530.747460757156055472166183853174-183853368, 183854439-183854465, 183854488-183854524, 183855408-183855421, 183855426-183855429, 183855448-183855481, 183855548, 183855697-183855703, 183855793, 183855797-183855821, 183855858-183855861, 183855963-183855984, 183856004-183856011, 183857868-183857927, 183858240-183858265, 183858272-183858321, 183858374-183858381, 183859714-183859731, 183859777-183859780, 183860106, 183860111
547CCDC5030.98067632850242281449191087729, 191087806-191087825, 191092996, 191093002, 191093013, 191093053, 191093066, 191093310, 191100561
548OPA130.9973753280839983048193355026, 193355043-193355049
549CPN230.999389499389511638194063153
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777NLGN4XX0.987352101183193124516069036-6069047, 6069170, 6069182-6069186, 6069214, 6069225, 6069228, 6069300-6069309
778GPR143X0.8047058823529424912759707547-9707565, 9714096, 9714123-9714148, 9728796-9728797, 9728804-9728819, 9733617-9733646, 9733686-9733727, 9733733-9733827, 9733847-9733856, 9733874-9733880, 9733913
779OFD1X0.9930898321816421303913754692, 13754729, 13762623, 13764522-13764538, 13767566
780FANCBX0.92403100775194196258014863178-14863179, 14871236, 14876074-14876076, 14877324-14877339, 14877414, 14882805-14882854, 14882926-14882949, 14882958, 14883060, 14883082-14883084, 14883131-14883133, 14883141, 14883204-14883234, 14883261-14883263, 14883268, 14883288, 14883302-14883303, 14883434, 14883468-14883499, 14883531-14883549
781AP1S2X0.888185654008445347415863610-15863620, 15864039-15864045, 15864056, 15870484-15870487, 15870539-15870568
782SMSX0.9554950045413349110121958943-21958991
783ARXX0.9917110716400214168925031661-25031673, 25031679
784IL1RAPL1X0.999521759923481209129301318
785NR0B1X0.9858457183297920141330326619-30326638
786GKX0.85499398315283241166230695492-30695495, 30695555-30695565, 30709259-30709297, 30712519-30712525, 30712541-30712571, 30712619, 30712644-30712654, 30714159-30714178, 30714187-30714216, 30714225-30714259, 30714735, 30714749-30714751, 30714766, 30714799-30714800, 30718977-30718980, 30719001-30719022, 30725698, 30726171-30726188
787DMDX0.99366974136372701105831187713, 31792089-31792092, 31893342, 31893348, 31893367-31893389, 32366644-32366645, 32466576, 32466688, 32472824, 32472836, 32472883, 32490292, 32509471, 32509500-32509514, 32519876, 32519882, 32827638-32827641, 32834648-32834651, 33038296-33038299, 33038304, 33038315
788CYBBX0.998248686514893171337639354, 37642754-37642755
789RPGRX0.428736629083551976345938144793-38146079, 38146099-38146498, 38147114-38147294, 38150212-38150223, 38150233, 38150236, 38150250-38150252, 38150275-38150277, 38150646-38150655, 38150712-38150737, 38156537, 38158215-38158230, 38158366-38158394, 38160557-38160560, 38163927, 38163935
790TSPAN7X0.99866666666667175038420809
791BCORX0.999810174639331526839931911
792NYXX0.9910096818810513144641333091-41333097, 41333301, 41333965-41333969
793CASKX0.999638467100511276641413077
794MAOAX0.92487373737374119158443571185-43571201, 43571956-43571986, 43572003-43572042, 43587469-43587474, 43590556, 43591034, 43591036, 43591038-43591048, 43591984-43591990, 43592035-43592038
795ZNF674X0.60481099656357690174646359307-46359308, 46359353-46359373, 46359409-46359410, 46359443, 46359480-46359488, 46359493-46359494, 46359519, 46359550-46359595, 46359606-46359648, 46359668, 46359700-46359748, 46359762, 46359767-46359770, 46359778, 46359802-46359848, 46359866-46359914, 46359931-46359932, 46359938-46359947, 46359953, 46359980-46359982, 46359985, 46359993-46360031, 46360044-46360074, 46360129-46360155, 46360219-46360221, 46360239-46360269, 46360298-46360361, 46360393-46360417, 46360459-46360462, 46360480, 46360492, 46360499, 46360508-46360543, 46360563-46360611, 46360619-46360651, 46360657-46360681, 46360739, 46360748-46360770
796ZNF41X0.997008547008557234047307369, 47315754-47315755, 47315758, 47326848-47326850
797SYN1X0.9664778092540171211847433484, 47433503, 47433510, 47433626, 47433707, 47433710-47433711, 47433714-47433719, 47433748-47433776, 47433812-47433815, 47433825-47433829, 47433832, 47433850, 47433913-47433928, 47433932, 47434124
798FTSJ1X0.963636363636363699048336551, 48341053, 48341104-48341137
799WASX0.996023856858856150948543951, 48547191, 48547240, 48547250, 48547254, 48547259
800CLCN5X0.9955120359037111245149807003, 49807010, 49807019-49807022, 49807030, 49807060-49807061, 49840618, 49851342
801BMP15X0.992346938775519117650654017, 50654081-50654087, 50659595
802ALAS2X0.996031746031757176455042141-55042147
803ARX0.9927614911328320276366765159-66765167, 66766357-66766359, 66766372-66766378, 66766381
804OPHN1X0.999584889995851240967284005
805MED12X0.989745944291467653470360615-70360626, 70361082-70361136
806TAF1X0.94913762759592289568270586190-70586233, 70586238, 70586285, 70602621, 70617108-70617143, 70617244, 70617277-70617295, 70678110-70678137, 70678141, 70678203-70678205, 70679431-70679464, 70679528-70679533, 70679546-70679547, 70680520-70680533, 70680613-70680653, 70683674-70683675, 70683699, 70683757-70683785, 70683801, 70683839-70683847, 70683871-70683885
807SLC16A2X0.9945711183496210184273641393-73641401, 73641569
808ATRXX0.95868431608504309747976763891-76763933, 76763941-76763949, 76763956, 76764024, 76764054, 76812922-76812924, 76812955-76812977, 76813009-76813024, 76813031-76813073, 76813086-76813091, 76813095, 76813116, 76814286-76814317, 76875911-76875912, 76919000, 76919003, 76919010-76919014, 76937115, 76937412, 76937505-76937506, 76937558-76937559, 76937607-76937625, 76937843-76937857, 76937942, 76938073-76938082, 76938085-76938094, 76938100-76938105, 76938109, 76938199, 76938236, 76938273-76938302, 76938455, 76938525, 76938694, 76938713-76938714, 76938777, 76939296, 76939302-76939311, 76939521, 76939582, 76940030
809ATP7AX0.999555851654452450377258637, 77287029
810CHMX0.9908256880733918196285213938-85213953, 85302489-85302490
811TIMM8AX0.996598639455781294100603602
812GLAX0.99147286821705111290100658817-100658826, 100662867
813ACSL4X0.909644194756551932136108902706-108902727, 108902736-108902740, 108904786, 108906440-108906441, 108906530-108906532, 108906616-108906620, 108912343, 108917648, 108917658, 108921220-108921248, 108921543-108921551, 108921555-108921557, 108924328, 108924332-108924354, 108924359, 108924596, 108924603-108924604, 108925965-108925971, 108926111-108926113, 108926393, 108926397-108926402, 108926439-108926440, 108926523, 108926603-108926617, 108926626-108926673
814AGTR2X0.94230769230769631092115303536, 115303588, 115303591, 115303685-115303688, 115303691-115303692, 115303706, 115303964, 115303970, 115304233, 115304294-115304315, 115304383, 115304599-115304625
815CUL4BX0.98687089715536362742119694081-119694083, 119694087-119694102, 119694218-119694225, 119694345-119694353
816XIAPX0.94578313253012811494123019540, 123019543, 123019600, 123019631, 123019675-123019678, 123019743, 123019748-123019756, 123019836-123019839, 123020062-123020065, 123040894-123040901, 123040975-123041021
817OCRLX0.99630450849963102706128674428, 128674438-128674446
818ZDHHC9X0.9954337899543451095128957716-128957717, 128962971-128962973
819FRMD7X0.97902097902098452145131211968-131211988, 131211990-131212000, 131212126, 131212171-131212175, 131212298, 131212311-131212313, 131212675-131212677
820GPC3X0.9994262765347111743133119476
821PHF6X0.98633879781421151098133511666-133511669, 133511731-133511737, 133512063, 133559231-133559232, 133559237
822HPRT1X0.875190258751982657133607389-133607451, 133607482-133607495, 133609309-133609312, 133609343
823ARHGEF6X0.99957099957112331135772807
824ZIC3X0.9978632478632531404136648985-136648987
825SOX3X0.92766592095451971341139585949, 139585953, 139586130-139586166, 139586178-139586184, 139586321, 139586438-139586439, 139586442, 139586451, 139586482-139586498, 139586504-139586506, 139586509-139586512, 139586522, 139586690-139586697, 139586851-139586862, 139586867
826IDSX0.99213551119177131653148568539-148568544, 148568551-148568556, 148571883
827MTM1X0.9988962472406221812149839958-149839959
828SLC6A8X0.832285115303983201908152954030-152954048, 152954054-152954081, 152954098-152954189, 152954230, 152954235-152954237, 152954248, 152954267-152954271, 152956766-152956772, 152957535-152957541, 152958629-152958630, 152958917-152958939, 152959470-152959472, 152959610-152959651, 152959837, 152959989-152960023, 152960079-152960088, 152960213-152960231, 152960532-152960553
829ABCD1X0.99151027703307192238152990909-152990918, 152990987-152990995
830MECP2X0.96793587174349481497153363075-153363122
831OPN1LWX0.9990867579908711095153418541
832OPN1MWX0.93607305936073701095153453282, 153455583-153455601, 153457289, 153457297-153457299, 153457306, 153459039-153459083
833OPN1MWX0.906849315068491021095153490400, 153492701-153492719, 153494407, 153494415-153494417, 153494424, 153496097-153496128, 153496157-153496201
834IKBKGX0.98975409836066151464153792573-153792587
835IKBKGX0.983640081799598489153868347-153868354
836DKC1X0.9954692556634371545153999132-153999138
837F8X0.99092970521542647056154065908, 154065915-154065919, 154090004-154090010, 154090046, 154090106-154090112, 154091396, 154091401, 154091407-154091431, 154091436, 154157316, 154157899, 154158078, 154158107, 154158343, 154158399-154158403, 154158951, 154159085-154159086, 154159100, 154159437
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
4FUT2-G258Shomozygous0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
2.5TIMM8A-E82Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5TIMM8A-R80*het unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
2.5WNT10A-F228Ihet unknown0.019Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
2.5PMM2-R141Hhet unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.551 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2ELAC2-A541Thet unknown0.028Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
2ELAC2-S217Lhomozygous0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
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-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-H1923Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-G299Rhet unknown0.701Unknown
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
2PCSK9-A53Vhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2LAMC2-D247Ehomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.328 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5HNMT-T105Ihet unknown0.077Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.821 (possibly damaging)
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-R257Qhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-K471Rhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-A5933Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-C4021Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1SYNE1-L885Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-N830Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGIF1-S18Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TGIF1-P292Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCP-G1196Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihomozygous0.738Unknown
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
1ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MLXIPL-A358Vhomozygous0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
1MLXIPL-Q241Hhomozygous0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RGPD4-Q1169Rhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-T1410Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK298931-E88QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK298931-W38*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1AK298931-T4ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1GPR98-L127Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.654 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-V379Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLT4-R1324Lhomozygous0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLT4-T494Ahomozygous0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CPN2-Q509WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
1HLA-L-H17Rhomozygous0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-I30Vhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-R38ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-L-A142Vhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-W144*homozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1HLA-L-C172Yhomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CASR-R990Ghet unknown0.064Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
1CASR-E1011Qhet unknown0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C17orf103-C16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COPZ2-A23ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COPZ2-G19ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HPS1-Q604RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS1-P491Rhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HPS1-E9Dhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CUBN-E3002Ghomozygous0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-I2984Vhomozygous0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-L2153Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V1188Ehet unknown0.062Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-A191Thomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MST1P9-H282RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1MST1P9-A271ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MST1P9-S152Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1IL23R-L310Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IL23R-R381Qhet unknown0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1AGL-G1115Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
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
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1CELA1-L210Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1CELA1-M59Vhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYBA-Y72Hhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RPGRIP1L-T1143Shomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-P643Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-T266Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
1PALB2-L337Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.761 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCC6-R265Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027242-N339DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK300656-R11*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALG2-V367Ahet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG2-S11Phet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HR-Q528Rhomozygous0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
1HR-L526Phomozygous0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HR-C397Yhomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
1KCNH2-K897Thomozygous0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
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
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SH2B1-T484Ahomozygous0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OTOA-T785Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OTOA-E787*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5OTOA-Y806Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VASN-R161Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.862 (probably damaging)
0.5VASN-E384Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.172 (benign)
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
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-ER416Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
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
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOD2-V955Ihet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5NOD2-L1007Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5DNAH2-V2471Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH2-S3284Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH2-T3600Ihet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH2-P4325Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-Y2682Fhomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALDH3A2-Q10Ehet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNB1-E32Ghomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ZFP90-H114Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging)
0.5CTNS-S39Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahomozygous0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK8-D130Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5AK8-I5Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GLIS2-A75Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5INF2-P428Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5INF2-P528Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA7-V74Mhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACOT4-R57Chet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.346 (possibly damaging)
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RAD51L1-L172Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.721 (possibly damaging)
0.5SYNE2-R1393Whet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.54 (possibly damaging), 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-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-E4913Khet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.251 (possibly damaging), Testable gene in GeneTests
0.5MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5SPTB-H1374Rhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RDH12-R161Qhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RDH12-R193Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TJP1-R1083Chet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ALPK3-H65Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALPK3-P1299Lhet unknown0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK3-R1412Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5TJP2-D482Ehomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TJP2-M668Ihet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-A190Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-E140Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-M163Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GATM-Q110Hhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APH1B-F217Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT33B-E85Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5UNC13B-F1096Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PAK4-R135Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.307 (possibly damaging)
0.5EID2-E60Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EID2-A6Thet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5BCKDHA-P39Hhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RECQL4-G1105Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R1005Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRAMD1A-R448Whet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYCE2-H89Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CACNA1A-Y2434Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-EE2427GGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LYPD4-T184Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC30A8-R325Whomozygous0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-R465Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-N252Dhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-R175Ghomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-M115Lhomozygous0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-R346Khomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), 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
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLA2G4C-P151Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLA2G4C-V142Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-M1974Thet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CARD8-V43Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CARD8-T23Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LONP1-V911Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NPEPPS-M241Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NPEPPS-R267Chet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5NPEPPS-G322Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NPEPPS-T475Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRSS1-S181Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-M183Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA8-C1244Yhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PLEKHM1-R921Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-S706Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-P682Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-F672Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-P641Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-R544Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-R533Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-R519Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-G472Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-E457Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-Y349Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAP3K14-S140Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5REXO4-T283Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5REXO4-R141Khet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5ADAM11-L93Shet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-R141*het unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ADAM11-A226Thet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-P255Shet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SOST-V10Ihet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-E4Dhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ITGB4-R977Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB4-L1779Phet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTR-G26Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASXL3-L2067Rhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L59Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFR2-R521Chet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ZFR2-E474Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZFR2-V183Mhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MIER2-P464Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.569 (possibly damaging)
0.5DSG2-E713Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5DSC2-R798Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.433 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JAK2-R1063Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5DSC3-R102Khomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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
0.5ADAMTS13-Q448Ehomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
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
0.5MASTL-V873Ihet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FXYD4-C63Yhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PITRM1-Q1037Rhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-I952Mhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.476 (possibly damaging)
0.5PITRM1-V621Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.782 (possibly damaging)
0.5PITRM1-I328Vhomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2T11-Q309Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5OR2T11-M203Rhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OR2T11-C119Rhomozygous0.901Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAV1-Q937Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5CR1L-R116Ghomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-R128Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5CR1L-N402Dhomozygous0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CR1L-I455Vhomozygous0.620Unknown
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
0.5USH2A-V4433Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPRC1-P941Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PPRC1-M1309Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-W1103Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-P1492Lhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5TACC2-G2730Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5TACC2-A2732Thet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BAG3-C151Rhomozygous0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1F-R1930Hhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM35A-L404Shifthet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FAM35A-R747Hhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5PCDH15-N642Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNNA3-R535Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.525 (possibly damaging)
0.5SLC29A3-R18Ghomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDHR1-H53Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5CDH23-L293Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-S494Nhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L3214Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-R2160Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC28B-R25Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5COL9A2-V581Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNQ4-H455Qhomozygous0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR65-A183Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WDR65-N241Dhet unknown0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5SPOCD1-P1089Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SPOCD1-T109Ahet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5GRHL3-T454Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TMEM82-L308Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TMEM82-L309Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPN1LW-T65Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-I111Vhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S116Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FUCA1-Q286Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FUCA1-P10Rhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-R372Qhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.528 (possibly damaging)
0.5CROCC-R377Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-A382Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-N420Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-S464Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-V468Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-R623Phet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CROCC-A631Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5CROCC-D649Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-D653Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-R809*het unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5FRMD7-R468Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5KIAA1614-L64Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-R301Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1614-L801Fhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-N1078Dhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NCF2-H389Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NCF2-K181Rhomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5FCRLB-T32Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FCRLB-G383Dhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.565 (possibly damaging)
0.5ATP2B3-P1176Shifthet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NEGR1-Y347Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NDUFS2-P352Ahet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5RTCD1-F349*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5RTCD1-V351Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PAOX-V285Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5INSC-R36Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.319 (possibly damaging)
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ATP6V0A2-N850Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5PABPC3-K78Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R89Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PABPC3-D90Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-H144Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-Q172Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-E178Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PABPC3-A181Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.5PABPC3-P191Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-I195Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5PABPC3-M251Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-K254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-RQTEL272Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R278Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-T279Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-Q292*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PABPC3-V293Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-T319Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.285 (possibly damaging)
0.5KNTC1-K245Nhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBH-A318Shet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACAD10-A911Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RASAL1-R321Hhet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RASAL1-T58Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RASAL1-V11Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-G292Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDX54-P822Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX54-R693Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5DDX54-G6Rhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5SPERT-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
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NID2-G760Vhomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-S656Phomozygous0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-P529Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.871 (probably damaging)
0.5NID2-G453Dhomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-P22Qhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PARP2-D235Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging)
0.5MYCBP2-N2593Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5FARP1-H644Yhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5CLYBL-I241Vhomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5CLYBL-R259*het unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NRXN2-T1508Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NRXN2-A270Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TM7SF2-A119Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TM7SF2-T299Ihet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STX5-R121Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5STX5-V45Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5HPS5-T1098Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.24 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS5-L417Mhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.956 (probably damaging), 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-F124Shomozygous0.799Unknown
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
0.5ALX4-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
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TRIM64-Q405Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-I723Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5COL5A1-G530Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT1-K633Rhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-R149Chet unknown0.124Unknown
not reviewed
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
0.5A2ML1-D850Ehomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-R1122Whomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-A1226Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A2ML1-H1229Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-M1257Vhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-R1274Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATM-E1979Vhet unknownUnknown
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
0.5ACAT1-A5Phomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.5FAM55B-V103Ahomozygous0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5VWA5A-R757Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
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
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TDO2-N229Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.851 (probably damaging)
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NIPAL4-R213Ghomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-T275Nhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-S73Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-P49Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-A6Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYOM2-V363Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADH7-R132Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ISX-S28Ghet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-P49Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC5A4-A46Thet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC5A4-T4Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5LCA5-G656Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), 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
0.5COL6A2-D227Nhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.184 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL6A2-S399Nhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-R680Hhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5E2F1-G200Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CD93-P541Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.5CD93-A315Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CD93-E121Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL4-I798Lhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMPRSS3-A90Thet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5UBASH3A-S18Ghet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBASH3A-L28Fhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5RSPH4A-R556Hhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SGCD-R96Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5TUBB1-Q43Phet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5TUBB1-R307Hhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CBR3-C4Yhomozygous0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
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
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GFM1-V215Ihet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5GFM1-V664Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.384 (possibly damaging), Testable gene in GeneTests
0.5ZFP57-R187Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-Y59Chomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V152Mhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-E196Khomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233Whomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhomozygous0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5NKX3-1-R52Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.788 (possibly damaging)
0.5ACAD9-A326Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.975 (probably damaging), Testable gene in GeneTests
0.5DNAJC13-G107Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAJC13-N1249Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAJC13-Y1256Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAJC13-A1463Shomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAJC13-Y1673Chet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-S102Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF204P-K99Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F13A1-Y205Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTT-E2643Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IDUA-H33Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5PLD1-A622Shomozygous0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLG1-P921Lhet unknown0.036Unknown
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
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF318-V1797Ahomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF318-S1364Lhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5ZNF318-T1292Ihet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDS1-L99Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOS3-QQ256H*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5NOS3-D298Ehomozygous0.749Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhomozygous0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNRK-P391Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5LPL-S474*het unknown0.084Unknown
protective
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5MOCS1-R452Lhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MOCS1-P390Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANO10-R462Qhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO10-R263Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ABHD14A-R32Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
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
0.5EYA4-G277Shomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.383Unknown
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-D2937Yhomozygous0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEKT4-T133Mhet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
0.5TEKT4-L144Mhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TEKT4-R193*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TEKT4-K196Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TEKT4-T198Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign)
0.5TEKT4-L366Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEKT4-R424Chet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.5ERAP2-K392Nhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LECT2-G63Ehet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LECT2-I58Vhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-R19629Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K7081Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FKBP6-R103Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FKBP6-C123Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FKBP6-E136Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABP1-T16Mhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-S332Fhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABP1-T592Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-H645Dhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HGF-E304Khet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), 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
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH7A1-K439Qhet unknown0.075Unknown
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
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-R347Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-A68Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-V3999Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-P1309Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ITGA6-A380Thomozygous0.316Unknown
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-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R752Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
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
0.5LIFR-H116Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ABCG8-Y54Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-G524Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIB3-Q84Rhomozygous0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IQCE-P586Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IQCE-L666Vhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQCE-T690Mhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRN4-Y549Nhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRN4-L148Fhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5LRRN4-T141Ahet unknown0.191Unknown
not reviewed
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
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PANK2-L111Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.26 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PCDHB16-R202Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PCDHB16-V347Lhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-T482Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PCDHB16-A508Thet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-R525Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-E526Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-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)
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGFBP5-R138Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R368Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE7A-G50Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDHB6-V231Ihet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5PCDHB6-L684Fhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5COL4A3-G43Rhomozygous0.353Unknown
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-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
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-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATIC-T116Shomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375COL9A3-G17Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL9A3-A435Ehet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.375TRIOBP-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TRIOBP-T817Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.375TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.375TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.375TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.375CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CD19-D417Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC56-R244Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRRC56-R467Qhomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.25LRRC56-R507Ghomozygous0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC56-D523Hhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25INTS4-D745Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25INTS4-R742*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25INTS4-V736Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MADD-V751Mhet unknown0.226Unknown
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
0.25GM2A-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
0.25KAL1-V534Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25TCOF1-V887Ahet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AMBRA1-D1197Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AMBRA1-R380Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BRD8-Q1198Rhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BRD8-R178Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUC5AC-A5189Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-T5204Ahet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-S5546Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC5AC-H5549Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25SNX19-A195Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNHD1-D622Ahomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-N694Shomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-Q697Rhomozygous0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-G769Rhomozygous0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-D987Ghomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-L1912LHALLhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNHD1-H2861Nhet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-R2928*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25DNHD1-R3830Hhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25C5orf25-G8Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf25-Y44Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C5orf25-I105Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf25-A184Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf25-Q238Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf25-H244Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf25-L273Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf25-L371Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf25-S373Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIM66-Q668Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TRIM66-H466Rhomozygous0.901Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIM66-H324Rhomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OVGP1-E676Qhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OVGP1-E667Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA4-R943Qhet unknown0.032Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F9-T194Ahet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIAA0415-V161Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KIAA0415-Q696Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP1A4-G83Dhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP1A4-T93Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25APOA1BP-V19Lhomozygous0.946Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25APOA1BP-R261Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BCL9-P517Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BCL9-P671Shet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25C1orf173-V1528MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf173-G1179Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf173-L1056Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf173-H691Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf173-K430Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AKAP9-K2484Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AKAP9-I3647Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALDH4A1-V470Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLXNB3-V621Ihomozygous0.506Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXNB3-E1179Dhomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXNB3-M1558Thomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXNB3-V1678Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GTF2IRD2P1-R561*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GTF2IRD2P1-A487Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTF2IRD2P1-T376Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTF2IRD2P1-K269Ehet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GTF2IRD2P1-S208Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTF2IRD2P1-C30Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR1-P154Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ROR1-T518Mhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COBL-D577Ahomozygous0.969Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COBL-H41Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WDFY4-S214Phet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WDFY4-Q1607Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25WDFY4-R2472Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25WDFY4-S2527Nhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WDFY4-A3022Thet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLYATL3-M16Thet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.953 (probably damaging)
0.25GLYATL3-N96Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLYATL3-A118Dhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.25GLYATL3-N161Dhomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G1036Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-E641Vhomozygous0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AK302514-R644Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK302514-T720AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK302514-L731PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MLL3-C3804Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MLL3-D1258Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-S1134Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-C1114Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-L291Fhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25THEMIS-I630Vhomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THEMIS-R330Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL4A6-W965*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25COL4A6-S454Phomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC22A16-M409Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATRX-Q929Ehet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25C1orf124-I212Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C1orf124-P296Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf124-T439Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL20-L17Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IL20-N97Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZC3H11A-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZC3H11A-S805*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRSS53-P406Ahomozygous0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRSS53-K37Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25HOXB7-M65Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HOXB7-T9Ahomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UBAP2-L1051Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UBAP2-A756Vhomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UBAP2-N606Shet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25UBAP2-R14Qhet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.353 (possibly damaging)
0.25TBX4-G6Ahet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.25COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HELZ-A1530Vhomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HELZ-L1028Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASKIN2-E891Ghomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASKIN2-Q728Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT10-G467Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25MON1B-E320Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MON1B-L353Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SCUBE1-S668Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCUBE1-G398Rhomozygous0.776Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PTCH1-P1315Lhet unknown0.296Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25PTCH1-KY830Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CAMTA2-A867Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CAMTA2-A286Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CAMTA2-A267Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SUZ12-VAAA31Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-G38Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-S45Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-S59Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-AA63DGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-AA63DGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-P74Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-R101*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SMCR7-P192Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SMCR7-A313Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SMTN-S536Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SMTN-A547Phomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SMTN-A559Vhet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIF27-I987Vhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.191 (benign)
0.25KIF27-G52Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIF27-M1Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH3-A1192Thet unknown0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH3-I25Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AATK-F1266Shet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.25AATK-Q737*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AATK-G703Chet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.044 (benign)
0.25MYADML2-N266Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYADML2-S116Phet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYADML2-R112Qhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ZFHX4-V66Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZFHX4-L411Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CIR1-L216Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CIR1-L213Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPT-H14Nhet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCAF1-T420Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCAF1-G1020Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25NLRP8-P25Lhet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.793 (possibly damaging)
0.25NLRP8-L64Fhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.327 (possibly damaging)
0.25NLRP8-V116Lhet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP8-Q268Rhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.975 (probably damaging)
0.25NLRP8-P600Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NLRP8-Q865Rhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP8-K937Rhet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25NLRP8-*1049Yhet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF28-K412Qhet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.4 (possibly damaging)
0.25ZNF28-Y218*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF28-R126Ghet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF350-R501Shet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF350-S135Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF350-L66Phet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), 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-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ROCK1-R1330*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ROCK1-C1264Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ROCK1-R1262Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ROCK1-Q1217Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25NDUFV2-V29Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NDUFV2-NPD48Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MOCOS-T170Ihomozygous0.911Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-S184Ghomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-W215Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MOCOS-H225Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25MOCOS-V358Mhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF517-H131Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF517-V349Ahomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTDP1-S61Ahet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25KDM4B-G493Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KDM4B-K710Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM114A1-L82Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM114A1-G84Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.859 (probably damaging)
0.25FAM114A1-L116Phet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM114A1-V443Ihet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.25CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HADH-L86Phet unknown0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GPR135-S25Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR135-Q5Phet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HERC6-C199Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HERC6-L422Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RALGAPA1-T931Ahet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RALGAPA1-S52Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-M648Vhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRP1-Q2900Phomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP1-D4193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BBS12-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
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25ITGA2-E534Khet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25C12orf42-R337Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C12orf42-E11Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRP72-V9Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SRP72-R20Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25IGDCC4-T872Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IGDCC4-D243Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-R454Qhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25LTF-K638Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LTF-R23RRhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SORD-R131Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SORD-Q239Lhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SORD-A253Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SORD-N269Thomozygous0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOK7-G461Dhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CAPN3-A236Thet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25BOD1L-K2065Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BOD1L-L650Ihomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AKAP5-A43Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AKAP5-T203Ihomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25YEATS2-V530Ihomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.25YEATS2-G828GGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25YEATS2-G1138Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0FGD4-E548Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0RUNX2-E72Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0ARSA-H138Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0COLQ-Q107Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0PEX13-K10Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0PRPH-D141Yhet unknown0.004Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.086 (benign)
0NIPBL-D2339Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0SCN5A-T10Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0CPN1-G178Dhet unknown0.036Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.982 (probably damaging), Testable gene in GeneTests
0MKS1-H271Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0ITPA-P32Thet unknown0.061Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0HPS3-H8Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0FLCN-H429Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0ERCC8-E142*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0ATXN7-T781Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,664,562,256 bases (94.1% of callable positions, 88.2% of total positions)

Coding region coverage: 31,971,252 bases (96.3% of all genes, 97.3% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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