hu577152 - GET-Evidence variant report

Variant report for hu577152

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1RP1-T373IHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0119003Reported to cause recessive retinitis pigmentosa in some Pakistani families. Because it is unclear whether these families have some common ancestry, and because there may be an uncharacterized linked variant, this pathogenic effect of this variant is considered uncertain.1
2C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
3MYO1A-G662EModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.0257483Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss.1
4SIAE-M89VModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0400632This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort.1
5PRF1-A91VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0325339This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.1
6rs5186LowLikelyLikely 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
7MBL2-R52CLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.048615This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).1
8TGIF1-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
9RNASEL-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
10DYX1C1-E417XLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.20147One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.1
11TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
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
12WFS1-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
13CLEC7A-Y238XLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0632088This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.1
14HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
15SP110-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
16H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
17CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.1
18ITPA-P32TLowWell-establishedWell-established pharmacogenetic

Recessive, Homozygous
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
19rs1544410LowUncertainUncertain 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
20PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
21CFH-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
22KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
23TGFB1-T263ILowUncertainUncertain protective

Dominant, Heterozygous
0.0205429Carriers may be less likely to have cleft lip and palate congenital deformity.1
24LPL-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
25TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
26PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
27SDHD-G12SLowLikelyLikely benign

Unknown, Heterozygous
0.008087Reported to increase risk of Cowden disease, although this was already contradicted by a prior report of it as a non-pathogenic polymorphism. The report claiming a pathogenic effect (Ni et al.) may have had errors in analysis, and their observation of the variant in patients isn't different from the frequency of the variant in ExAC data.1
28NEFL-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
29CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
30LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
31FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
32APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
33GFAP-D295NLowUncertainUncertain benign

Unknown, Heterozygous
0.0333767Reported as a nonpathogenic polymorphism.1
34DMD-H2921RLowUncertainUncertain benign

Unknown, Homozygous
0.0206645Thought to be a rare nonpathogenic polymorphism.1
35TCIRG1-R56WLowUncertainUncertain benign

Unknown, Heterozygous
0.0441778Probably benign. One publication implicates the variant in causing osteopetrosis, but this is contradicted by the relatively high allele frequency for the variant in Caucasians (5%, 1 in 400 homozygous) while that disease is extremely rare (1 in 250,000).1
36ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
37PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
38F5-D2222GLowUncertainUncertain benign

Unknown, Heterozygous
0.0448968Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.1
39MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
40RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
41SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
42GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
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
43TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
44TAS2R38-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
45F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
46TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31306728 / 33282720 = 94.06%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.03421309872922859286138955553-955753, 957581-957842, 970657-970704, 976045-976260, 976553-976777, 976858-977082, 977336-977350, 977369-977542, 978619-978837, 978918-979112, 979203-979403, 979489-979558, 979570-979615, 979623-979637, 979714-979759, 979765-979819, 980541-980612, 980636, 980642, 980647-980657, 980739-980811, 980818-980903, 981127-981132, 981143, 981147, 981158-981256, 981344-981459, 981540-981579, 981601-981645, 981777-982082, 982095-982114, 982200-982337, 982707-982834, 982953-983067, 983156-983275, 983392-983745, 984247-984439, 984616-984831, 984946-985175, 985283-985285, 985295-985417, 985613-985709, 985807-985971, 986108-986217, 986633-986749, 986833-987025, 987108-987195, 989133-989284, 989294-989357, 989828-989863, 989872, 989883-989918, 990204-990361
2GABRD10.2958057395143595713591950863-1950930, 1956396, 1956412, 1956460-1956477, 1956483-1956493, 1956773-1956792, 1956806, 1956811-1956817, 1956829-1956832, 1956957-1956958, 1956971-1957001, 1957035-1957037, 1957040-1957064, 1957071-1957105, 1957126-1957167, 1959062-1959071, 1959079-1959082, 1959609-1959614, 1959669-1959709, 1960550-1960705, 1960990-1961126, 1961133-1961201, 1961422-1961500, 1961509-1961514, 1961523-1961657, 1961677-1961721
3PEX1010.844036697247711539812337209, 2337923-2337941, 2337956-2337961, 2338184, 2338270, 2340007-2340018, 2340200, 2343830-2343941
4NPHP410.9460406447091823142815925216, 5925300-5925304, 5935158-5935160, 6021890-6021896, 6029160, 6029229-6029236, 6029307-6029319, 6038330-6038473, 6046215-6046236, 6046254-6046261, 6046264-6046282
5ESPN10.6998050682261277025656485016-6485130, 6485136-6485309, 6488300-6488346, 6488367-6488393, 6488426-6488432, 6488466-6488467, 6500318-6500324, 6500379-6500393, 6500413-6500437, 6500479-6500488, 6500712, 6500734-6500798, 6500867, 6501029-6501032, 6501044, 6501052, 6501055, 6501062, 6504658-6504679, 6505732-6505754, 6505776-6505798, 6505848-6505854, 6505888-6505920, 6508809-6508857, 6508882-6508888, 6508925, 6508976-6508986, 6509050-6509071, 6509114-6509145, 6512106-6512133, 6517316-6517323
6PLEKHG510.9551583568516814331896527911-6527912, 6527916, 6528050-6528054, 6528074, 6528127, 6528170, 6528250-6528259, 6529183-6529188, 6529206, 6529209, 6529440-6529463, 6529698, 6530661, 6530799, 6530809-6530811, 6530839-6530842, 6530907, 6531086-6531087, 6531090, 6531106, 6531159, 6531589, 6533358, 6533413, 6534526, 6534530, 6534544, 6534577, 6534597, 6534626-6534644, 6535169-6535198, 6535533, 6535549-6535551, 6556553-6556559, 6556576, 6556627, 6557380-6557383
7PEX1410.78483245149912244113410659320-10659349, 10683087, 10683090-10683092, 10683148-10683149, 10683155, 10684409-10684410, 10684423-10684426, 10684440-10684472, 10687329-10687374, 10687383-10687407, 10689632, 10689677, 10689686-10689700, 10689708, 10689747-10689756, 10689760-10689761, 10689788-10689810, 10689872, 10689879-10689880, 10689939, 10689942-10689950, 10689978-10689980, 10689998-10690024, 10690040
8TARDBP10.928514056224989124511082258-11082278, 11082322-11082362, 11082584-11082610
9MASP210.66181465308103697206111087599, 11090233, 11090841-11090849, 11090892, 11090916, 11094895, 11094932-11094934, 11097757-11097780, 11097818-11097820, 11102932-11103079, 11103396-11103592, 11105465-11105575, 11105583-11105596, 11106617-11106633, 11106659-11106698, 11106716-11106735, 11106778-11106790, 11106948-11106985, 11107003-11107004, 11107009-11107018, 11107023, 11107032, 11107036, 11107067-11107082, 11107116-11107139
10MTHFR10.9797057331303940197111853964-11853995, 11854089-11854094, 11861325, 11863114
11PLOD110.9821428571428639218412024836-12024842, 12025586-12025597, 12026319-12026325, 12030760-12030767, 12030859-12030862, 12030869
12MFN210.999560246262091227412066750
13CLCNKA10.84544573643411319206416351258-16351261, 16351275, 16353085, 16355324-16355328, 16355645, 16355684-16355690, 16355721-16355760, 16356468-16356486, 16356490, 16356962-16356972, 16356991-16357070, 16357105-16357110, 16357119-16357127, 16358205-16358224, 16358276-16358300, 16358332-16358338, 16358698-16358743, 16358767-16358786, 16358941-16358944, 16358947, 16358954-16358957, 16360141-16360147
14CLCNKB10.79748062015504418206416373044-16373050, 16374479-16374485, 16374895-16374900, 16375046, 16375051-16375055, 16377039-16377044, 16377075-16377077, 16377459-16377501, 16377524-16377526, 16377979-16377983, 16377997, 16378034-16378042, 16378234-16378248, 16378270-16378291, 16378693-16378720, 16378728-16378806, 16378824-16378872, 16378879-16378906, 16380134-16380142, 16380196, 16380230-16380257, 16380267, 16381958-16381969, 16382002-16382007, 16382178-16382220, 16382242
15ALPL10.998730158730162157521896866-21896867
16HSPG210.99521857923497631317622263648-22263710
17WNT410.89204545454545114105622446956-22446958, 22456137-22456163, 22456321-22456327, 22469339-22469415
18RPL1110.99255121042831453724019100-24019103
19GALE10.9875835721107913104724124256, 24125453, 24125456-24125466
20HMGCL10.953987730061354597824134678, 24134721, 24134752-24134780, 24134803-24134813, 24137241, 24137260, 24151893
21FUCA110.86009992862241196140124180978, 24186290, 24186352-24186353, 24186362, 24186367, 24189724, 24194388-24194396, 24194416-24194434, 24194444-24194491, 24194520, 24194542, 24194552-24194558, 24194570-24194572, 24194589, 24194614-24194616, 24194623, 24194636-24194655, 24194664-24194666, 24194675-24194747
22LDLRAP110.979503775620281992725893431-25893448, 25893451
23SEPN110.88009592326139200166826126722-26126904, 26136268-26136280, 26138367-26138370
24YARS10.9855072463768123158733256778-33256784, 33256819-33256820, 33282815-33282828
25HPCA10.98625429553265858233359145-33359152
26GJB410.99001248439451880135226884-35226891
27ZMPSTE2410.999299719887961142840756553
28KCNQ410.94683908045977111208841249766-41249779, 41249843-41249846, 41249850-41249856, 41249882-41249915, 41249920-41249927, 41249939-41249945, 41249953-41249977, 41249982-41249983, 41250035-41250040, 41284301-41284304
29CLDN1910.98962962962963767543201695-43201698, 43203906, 43203909, 43203976
30LEPRE110.9837177747625536221143232329-43232331, 43232498-43232500, 43232511, 43232526-43232528, 43232531, 43232563-43232570, 43232626-43232642
31ORC110.998066511987635258652839043-52839047
32BSND10.99792315680166296355465029, 55470722
33PCSK910.9533429533429597207955505553-55505555, 55509574-55509580, 55521669, 55521695, 55521699-55521715, 55521732-55521775, 55521825-55521845, 55524229-55524230, 55524275
34AGL10.9995651228527924599100387204-100387205
35DBT10.9944789510006981449100696354-100696361
36COL11A110.98955470038483575457103364222-103364223, 103364252-103364304, 103488382-103488383
37GSTM110.62252663622527248657110230496-110230531, 110230854, 110231302, 110231693-110231742, 110231854-110231855, 110231892-110231947, 110232908-110232910, 110232922, 110232925-110232946, 110232955, 110232960, 110232970-110232988, 110233076-110233129, 110233138
38HSD3B210.9937444146559471119119965218-119965224
39NOTCH210.99217907227616587416120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539916, 120539936, 120548025, 120548030, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610
40HFE210.9976580796252931281145414848-145414849, 145415576
41FLG10.90743476120138112812186152276295, 152276461-152276468, 152276581-152276587, 152276653, 152276726, 152276878, 152276907, 152277861-152277870, 152278049, 152278244-152278250, 152278431-152278437, 152279216-152279222, 152279371-152279409, 152279566-152279567, 152279575, 152279579, 152279587, 152279668-152279701, 152279726-152279747, 152279838-152279851, 152279870-152279895, 152280148-152280157, 152280243-152280257, 152280267-152280299, 152280364, 152280530-152280562, 152280570-152280628, 152280717-152280718, 152280842-152280879, 152280917, 152280926, 152281055, 152281265-152281293, 152281303-152281328, 152281350-152281356, 152281487, 152281490-152281491, 152281524, 152281574-152281575, 152281674-152281698, 152281763-152281773, 152281918-152281924, 152281966, 152282013-152282014, 152282027, 152282124, 152282196, 152282235-152282249, 152282260-152282265, 152282298, 152282373, 152282376, 152282453-152282455, 152282460, 152282523, 152282527, 152282534, 152282568, 152282577, 152282580, 152282649, 152282760, 152282767, 152283013-152283028, 152283049, 152283071, 152283086, 152283111-152283117, 152283170-152283179, 152283233-152283239, 152283346, 152283530, 152283533, 152283694-152283728, 152283801-152283803, 152284046-152284049, 152284053, 152284077, 152284173-152284217, 152284305, 152284336-152284366, 152284477, 152284491-152284493, 152284616, 152284629, 152284668-152284677, 152284851-152284882, 152285091-152285097, 152285103-152285150, 152285206-152285247, 152285410-152285420, 152285475, 152285678, 152285871-152285875, 152285955-152285998, 152286013-152286022, 152286057, 152286176-152286213, 152286310-152286311, 152286324, 152286342, 152286359-152286400, 152286433-152286442, 152286500, 152286609-152286612, 152286640, 152286712-152286713, 152286832-152286885, 152286911-152286924, 152287014-152287029, 152287870-152287886
42GBA10.9891395154553131197155184949-155184953, 155186225-155186232
43GBA10.9975170701427741611155205634, 155207149-155207151
44PKLR10.98840579710145201725155269985-155270000, 155270009, 155270027-155270028, 155270051
45LMNA10.9974937343358451995156108279-156108280, 156108286-156108287, 156108368
46SEMA4A10.9991251093613322286156131170, 156131222
47NTRK110.99205353408616192391156830727-156830737, 156830757-156830763, 156830805
48F510.99086142322097616675169489823-169489836, 169498949, 169505813-169505816, 169505900-169505918, 169509580-169509588, 169510345-169510351, 169510480-169510486
49CFH10.997835497835583696196712596, 196716389-196716395
50CFHR110.991943605236668993196797204, 196797214, 196797238, 196797244, 196801042, 196801078-196801080
51CFHR510.9988304093567321710196967332, 196967431
52ASPM10.99971247843588310434197069804, 197070031-197070032
53CACNA1S10.99733191035219155622201081321-201081332, 201081407, 201081411, 201081414
54USH2A10.9994234095714915609215916633, 216138778-216138781, 216251473-216251476
55ADCK310.804526748971193801944227149087-227149138, 227149208-227149219, 227149248-227149263, 227152701-227152725, 227152740-227152762, 227152789-227152796, 227152800, 227152816-227152832, 227152855-227152873, 227152891-227152938, 227152978-227153019, 227153041-227153048, 227153065, 227153079, 227153096-227153111, 227153372-227153393, 227153416-227153437, 227169784-227169799, 227170711, 227171462-227171484, 227172249-227172254, 227172634
56GJC210.1946969696969710631320228345460-228345520, 228345528-228345531, 228345554, 228345564-228345569, 228345578-228345621, 228345635-228345640, 228345664-228345726, 228345747-228345764, 228345770-228345778, 228345783-228345793, 228345800-228345801, 228345805-228345856, 228345884-228345948, 228345960-228346197, 228346212-228346219, 228346271-228346506, 228346513-228346573, 228346584-228346626, 228346636-228346702, 228346709-228346776
57ACTA110.98324514991182191134229567914-229567932
58LYST10.99868490268281511406235944236-235944250
59ACTN210.99180633147114222685236849975, 236850006-236850025, 236850050
60RYR210.998658078368222014904237729969-237729983, 237821244, 237821280-237821282, 237957180
61NET1100.98939140145171917915454697-5454703, 5454751-5454761, 5498551
62GATA3100.99925093632959113358100731
63OPTN100.994809688581319173413151243-13151251
64DCLRE1C100.9966329966337207914970066, 14970069-14970072, 14981867-14981868
65PTF1A100.7619047619047623598723481504-23481532, 23481566-23481591, 23481647-23481674, 23481708-23481717, 23481719-23481729, 23481737-23481786, 23481805-23481811, 23481820, 23481837-23481860, 23481881, 23481890-23481905, 23481933-23481950, 23482048-23482051, 23482140-23482149
66MYO3A100.999793856936711485126414406
67MASTL100.9958285930982211263727459009, 27459111-27459118, 27469982, 27469987
68RET100.94828101644245173334543572707-43572768, 43596059, 43598047-43598063, 43600586-43600609, 43600633-43600639, 43606892, 43606897-43606899, 43610161, 43615002, 43615006-43615008, 43615137-43615147, 43615172-43615190, 43619217-43619228, 43619238, 43623641-43623642, 43623645-43623648, 43623693-43623696
69ERCC6100.9904060687193243448250738768-50738778, 50738784, 50738788, 50740772-50740797, 50740808-50740809, 50740825, 50740829
70CHAT100.9848687138406834224750822357-50822380, 50822408-50822417
71PCDH15100.9882832399388769588955587158-55587166, 55587185-55587217, 55587289, 55587292, 55587307-55587308, 55973696-55973710, 55973736-55973743
72EGR2100.999301187980431143164573489
73NODAL100.997126436781613104472201346-72201348
74CDH23100.99691726332538311005673439162, 73439168, 73439205-73439206, 73439213, 73464758-73464782, 73490291
75LDB3100.9816849816849840218488428458-88428465, 88466362-88466366, 88466430-88466434, 88469791-88469794, 88476307-88476314, 88476462-88476471
76BMPR1A100.999374609130711159988683146
77GLUD1100.999403697078121167788854487
78PLCE1100.9959473150962528690996076362-96076389
79HPS1100.97720797720798482106100177365-100177387, 100177416-100177430, 100177954-100177963
80COX15100.98783454987835151233101478126, 101478220-101478232, 101480763
81C10orf2100.9995133819951312055102748722
82FBXW4100.9975786924939531239103371140, 103371152-103371153
83HPS6100.99570446735395102328103825447-103825448, 103825451-103825458
84COL17A1100.9997774810858914494105816916
85HTRA1100.780318780318783171443124221169-124221172, 124221188-124221336, 124221363-124221408, 124221441-124221447, 124221474-124221517, 124221564-124221599, 124221610-124221640
86OAT100.996969696969741320126090383-126090386
87UROS100.981203007518815798127477437-127477451
88HRAS110.8824561403508867570532661-532699, 532708-532723, 532741, 532745-532747, 533505-533508, 533513, 533770, 533852, 534258
89TALDO1110.9861932938856141014747550, 747553-747556, 763398-763403, 763416, 763899-763900
90SLC25A22110.35082304526749631972791928, 791931-791936, 791939, 791946-791954, 791959-791963, 791967-791969, 791995-792001, 792025-792032, 792039, 792045, 792057-792068, 792145-792157, 792164-792207, 792217, 792306, 792317-792319, 792324-792326, 792342-792418, 792427-792458, 792554-792603, 792607-792608, 792618-792694, 792712-792727, 792870-792935, 792941-792966, 792975-792986, 793534-793599, 794458-794467, 794776-794822, 794834-794837, 794852, 794859, 794881-794901, 795003-795006
91PNPLA2110.437623762376248521515819719-819905, 821628-821629, 821636-821642, 821695-821703, 821707-821715, 821721, 821726-821752, 821756, 821763, 821766, 821771-821774, 821802-821846, 822005, 822600-822602, 823527-823548, 823571-823587, 823721-823722, 823753-823757, 823770-823772, 823794-823829, 823854-823855, 823998-824068, 824075-824107, 824117-824130, 824314-824328, 824333, 824343-824352, 824361-824423, 824523-824544, 824554-824643, 824653-824654, 824663-824685, 824704-824746, 824755-824780, 824789, 824810-824862
92CTSD110.4769975786924964812391774761, 1774765-1774769, 1774785-1774786, 1774830-1774844, 1774857-1774878, 1774885, 1774889, 1774900, 1775033-1775041, 1775051, 1775054-1775056, 1775061-1775071, 1775100, 1775116-1775131, 1775235-1775285, 1775292-1775298, 1775308-1775368, 1776198, 1778560-1778638, 1778651-1778654, 1778705-1778718, 1778742-1778786, 1780199-1780317, 1780746-1780787, 1780798, 1780805-1780808, 1780811-1780813, 1780819, 1780854-1780869, 1782559, 1782578-1782597, 1782628-1782641, 1782664-1782669, 1782686-1782687, 1785022-1785089
93TNNI2110.5919854280512245491861454-1861468, 1861647-1861674, 1861815-1861886, 1862049-1862097, 1862261-1862265, 1862268, 1862293-1862323, 1862361-1862378, 1862699-1862703
94TNNT3110.178893178893186387771944105-1944121, 1944785-1944796, 1946329-1946346, 1947925-1947929, 1947934-1947939, 1950350-1950370, 1951040-1951058, 1953699-1953701, 1953720-1953739, 1954951-1955061, 1955161-1955238, 1955562-1955574, 1955597-1955675, 1955776-1955786, 1955798-1955846, 1955864-1955882, 1956059-1956081, 1956112-1956149, 1958193-1958233, 1959668-1959722
95H19110.986928104575161410712017755, 2017811-2017813, 2017825-2017830, 2018044, 2018311, 2018336, 2018361
96IGF2110.274261603375535167112154217-2154289, 2154304, 2154313-2154416, 2154435-2154436, 2154442-2154453, 2154747-2154750, 2154757-2154895, 2156621, 2156628, 2156632-2156654, 2156664-2156692, 2156736-2156759, 2161365-2161413, 2161423-2161425, 2161434-2161436, 2161448-2161470, 2161478-2161497, 2161502, 2161520-2161522, 2161526
97TH110.20634920634921125015752185463-2185516, 2185534-2185581, 2186462-2186554, 2186563-2186577, 2186585-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188171, 2188181-2188243, 2188250-2188262, 2188665-2188715, 2189100-2189161, 2189343-2189389, 2189401-2189409, 2189731-2189776, 2189783-2189845, 2189892-2189895, 2190910-2190976, 2190987-2191037, 2191046-2191086, 2191920-2192000, 2192951-2192967
98KCNQ1110.7503692762186150720312466329-2466714, 2591891-2591918, 2592555-2592576, 2593255-2593278, 2593305-2593309, 2593339, 2604665-2604676, 2604754-2604758, 2608881-2608895, 2610076-2610084
99CDKN1C110.0851735015772878709512905234-2905316, 2905328, 2905348-2905364, 2905900-2906631, 2906655-2906656, 2906666-2906673, 2906676, 2906694-2906719
100SMPD1110.99947257383966118966411935
101ABCC8110.999367888748423474617498307-17498309
102LDHA110.99299299299299799918422487, 18422496-18422501
103ANO5110.999635302698761274222277012
104WT1110.9749034749034739155432456586-32456597, 32456717-32456734, 32456843-32456851
105RAG2110.996843434343435158436614252-36614256
106ALX4110.9902912621359212123644286607-44286614, 44286731-44286733, 44331287
107PEX16110.89817483189241106104145931657-45931667, 45931697-45931706, 45931709, 45931720, 45935921-45935958, 45935966-45935972, 45937076, 45937365-45937368, 45939258-45939290
108F2110.9748528624933147186946744821-46744824, 46745044-46745047, 46747425-46747431, 46747499-46747512, 46747622, 46748059-46748067, 46748150-46748156, 46749563
109MADD110.999797734627831494447307048
110MYBPC3110.86745098039216507382547356740, 47364211-47364216, 47367781, 47367786, 47367799, 47367809-47367921, 47368178-47368195, 47368973-47368974, 47368976-47369016, 47369424-47369425, 47369442, 47369450, 47370017-47370020, 47370033-47370079, 47371331-47371335, 47371346, 47371436, 47371449-47371468, 47371565-47371570, 47371574-47371577, 47371592-47371593, 47371603-47371606, 47371635-47371663, 47372077, 47372105-47372106, 47372115-47372127, 47372151-47372154, 47372157-47372158, 47372165, 47372833, 47372836, 47372840, 47372846-47372848, 47372895-47372925, 47372936-47372970, 47372976-47373056, 47374179-47374198
111SLC39A13110.9740143369175629111647431815, 47433946, 47435986-47435995, 47436382-47436384, 47436431, 47436848-47436860
112RAPSN110.9539951573849957123947459526-47459530, 47460301, 47460306, 47460333, 47460376, 47460390-47460392, 47460453-47460455, 47460467, 47463185, 47463241, 47463248-47463273, 47463449-47463454, 47463468-47463469, 47464359, 47469597, 47470360, 47470364, 47470368
113ROM1110.9876893939393913105662381257-62381261, 62381962, 62382299-62382305
114SLC22A12110.52346570397112792166264359029-64359049, 64359066-64359140, 64359170-64359207, 64359236-64359269, 64359303-64359371, 64359387-64359407, 64360279-64360302, 64360320-64360321, 64360326-64360339, 64360898-64360900, 64360915-64360917, 64360975-64361016, 64361024-64361031, 64361107-64361214, 64361222-64361228, 64361255-64361256, 64365988-64366009, 64366090-64366111, 64366280-64366325, 64366350, 64366353-64366372, 64366384-64366395, 64367152, 64367163-64367174, 64367178-64367181, 64367186, 64367197-64367224, 64367239-64367290, 64367316-64367325, 64367353-64367354, 64367359, 64367846, 64367856, 64367893, 64367943-64367947, 64368207, 64368219, 64368225-64368251, 64368264, 64368268, 64368278, 64368326-64368349, 64368385-64368407
115PYGM110.96045867931989100252964520583, 64521027-64521029, 64521072-64521082, 64521351-64521363, 64521785-64521788, 64521799-64521803, 64522196, 64522299-64522303, 64525752-64525769, 64525809-64525819, 64526089-64526100, 64526162-64526176, 64527303
116MEN1110.9761904761904844184864571828-64571834, 64572522-64572537, 64572621-64572622, 64573161-64573173, 64573237-64573242
117RNASEH2C110.969696969696971549565488215-65488229
118CST6110.98945065780330-65780338
119BBS1110.997755331088664178266288833-66288836
120SPTBN2110.9432594451415407717366454972-66454973, 66455364, 66456131, 66457310, 66457369-66457378, 66457642-66457644, 66457650, 66463748-66463755, 66463871, 66463977, 66467071, 66467997-66468016, 66468034-66468039, 66468080, 66468135-66468148, 66468182-66468209, 66468223-66468308, 66468352-66468374, 66468399-66468411, 66468416-66468418, 66468456, 66468512-66468522, 66468526, 66468532-66468533, 66468536-66468538, 66468579-66468586, 66468629, 66468702, 66468714, 66468746-66468753, 66469147-66469167, 66472629-66472637, 66472722-66472724, 66472748, 66472939, 66473158, 66473162, 66473256, 66473307-66473308, 66474996-66475016, 66475072-66475087, 66475126, 66475219, 66475226-66475231, 66475247-66475254, 66475622, 66475631-66475639, 66475650-66475658, 66475712-66475713, 66475731, 66475745, 66481118-66481124, 66481164-66481169, 66481572, 66482805-66482813, 66483347-66483353
121PC110.99915182357933353766639210-66639212
122CABP4110.7789855072463818382867222900, 67222958-67222959, 67222962-67222993, 67223064-67223067, 67223121-67223151, 67223177-67223211, 67223670-67223673, 67223683, 67223806-67223809, 67223862, 67223867-67223868, 67223878, 67223882, 67223908-67223909, 67225070-67225077, 67225908-67225942, 67225946-67225950, 67225976-67225989
123AIP110.2618328298086673399367254477-67254518, 67254544-67254563, 67254579, 67254615-67254631, 67256738-67256764, 67256774-67256790, 67256810-67256878, 67256886-67256926, 67257509-67257685, 67257787-67257928, 67258259-67258299, 67258308-67258363, 67258374-67258453, 67258460-67258462
124NDUFS8110.946287519747243463367799773-67799788, 67800449-67800455, 67803842-67803844, 67803950-67803954, 67803979-67803981
125TCIRG1110.90653830726033233249367808739-67808761, 67810110-67810111, 67810168-67810215, 67810244-67810260, 67810273-67810297, 67810321-67810325, 67810896, 67811094-67811096, 67811281-67811305, 67811608-67811616, 67811648-67811657, 67811720-67811721, 67811774-67811801, 67816359, 67816620-67816628, 67816735-67816736, 67816748, 67816759, 67817215-67817220, 67817225, 67817242, 67817254-67817255, 67817628-67817633, 67818076-67818079, 67818083
126LRP5110.88139438943894575484868080183-68080248, 68080256-68080273, 68115709-68115711, 68125265, 68125278, 68125281, 68131215-68131232, 68131253-68131278, 68131290-68131291, 68131296-68131317, 68131361-68131411, 68133133-68133155, 68153784-68153785, 68153999, 68154048-68154049, 68154132, 68154135, 68157488-68157514, 68170965-68170967, 68171056, 68171091-68171110, 68171148-68171167, 68174087, 68174092, 68174105, 68174244-68174260, 68174268, 68177382-68177385, 68177395-68177402, 68177511, 68177531-68177561, 68178909, 68178990-68179014, 68179035-68179078, 68181221-68181235, 68181300, 68181307-68181308, 68181361-68181364, 68181438-68181444, 68181472, 68183905-68183906, 68183909-68183911, 68183915-68183918, 68183926-68183927, 68183940, 68191045-68191053, 68191116-68191118, 68191163-68191165, 68193538, 68193541, 68201119, 68201221, 68201251-68201258, 68204401-68204404, 68204443-68204458, 68207266, 68207347, 68207355, 68207380-68207384, 68213964-68213971, 68213980, 68216350, 68216436, 68216450-68216453, 68216457-68216458, 68216467, 68216504-68216518
127CPT1A110.992248062015518232268527730-68527733, 68540745-68540756, 68552302-68552303
128IGHMBP2110.9818913480885354298268671431-68671461, 68671467-68671469, 68671477, 68703959, 68704067-68704073, 68704350, 68704534-68704543
129DHCR7110.999299719887961142871146687
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131FZD4110.9919454770755913161486663009-86663010, 86665921-86665927, 86666066, 86666092, 86666103, 86666118
132DYNC2H1110.997682502896873012945103029673-103029675, 103043946-103043960, 103270549-103270560
133ATM110.9998909606367919171108098503
134RDX110.9994292237442911752110128561
135APOA1110.9626865671641830804116706785-116706804, 116706808, 116706863-116706864, 116706868-116706874
136FXYD2110.8767123287671254438117693054, 117693253-117693296, 117693409-117693417
137HMBS110.96593001841621371086118955764-118955776, 118962156-118962179
138DPAGT1110.9918500407498101227118967854-118967856, 118967862, 118968174-118968179
139TECTA110.99551430781129296465121032788-121032814, 121032938-121032939
140WNK1120.972443698419361977149862732-862738, 862788-862824, 862870-862893, 862914-862943, 862969-862997, 863080-863087, 863116-863152, 863199-863211, 863483-863485, 968534-968542
141CACNA1C120.993750952598694165612676834-2676840, 2676895-2676898, 2676935-2676936, 2787017-2787020, 2794934-2794940, 2800249-2800252, 2800353-2800365
142FGF23120.96957671957672237564479670, 4488603-4488624
143VWF120.9752428334517920984426122647-6122650, 6125328-6125344, 6127532-6127538, 6127654-6127661, 6127726-6127744, 6127943, 6128064-6128087, 6128167-6128173, 6128297-6128303, 6128476-6128508, 6128554-6128560, 6128784-6128790, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166081-6166082
144TNFRSF1A120.992690058479531013686438592-6438597, 6450942-6450945
145SCNN1A120.912208504801119221876457053-6457056, 6457275-6457276, 6457293, 6457418, 6457920-6457954, 6458335-6458376, 6458532, 6458559-6458571, 6463604-6463645, 6463698-6463721, 6463921-6463928, 6464561-6464562, 6465046, 6472610-6472624, 6472629
146TPI1120.99637506976731-6976732, 6976758
147ATN1120.996921354603971135737050639-7050649
148ABCC9120.999784946236561465022025643
149BCAT1120.999138673557281116125031497
150DNM1L120.9936680235187714221132866195, 32866199-32866211
151PKP2120.9705648369132974251433049443-33049453, 33049461-33049469, 33049496, 33049500-33049505, 33049530-33049563, 33049610-33049616, 33049636, 33049640-33049644
152MLL2120.950884795955228161661449422619-49422624, 49424156-49424171, 49424174-49424177, 49424992, 49425681-49425716, 49425766, 49425769-49425779, 49425784, 49425794, 49425797, 49425821-49425826, 49425835, 49426043, 49426151-49426191, 49426484, 49426525-49426528, 49426555, 49426572-49426713, 49426770, 49426830, 49426928, 49427019-49427020, 49427023, 49427054, 49427072, 49427076-49427083, 49427094-49427102, 49427118-49427123, 49427315-49427322, 49427566, 49427571-49427572, 49427661-49427664, 49430961-49431005, 49431287-49431376, 49431422, 49431493-49431523, 49431548-49431569, 49431578-49431620, 49431674-49431754, 49431787, 49431818-49431847, 49431911-49431913, 49431917-49431918, 49431942-49431970, 49431980-49431994, 49432008-49432033, 49432119-49432123, 49432314-49432315, 49432505-49432507, 49432628, 49433020, 49433081-49433090, 49433277, 49433318-49433336, 49434065-49434087, 49437772-49437781, 49442977
153TUBA1A120.802631578947379045649522206-49522222, 49522259-49522294, 49522381-49522414, 49522457, 49522468, 49522624
154KRT81120.93412384716733100151852681437, 52684003, 52684021-52684067, 52685066-52685069, 52685092-52685119, 52685146, 52685176-52685193
155KRT86120.9623545516769355146152695851-52695857, 52696887-52696934
156KRT6B120.9516224188790682169552845397-52845438, 52845574, 52845598-52845604, 52845662-52845686, 52845798-52845804
157KRT6C120.9427728613569397169552865900-52865928, 52867094, 52867230-52867263, 52867321-52867346, 52867457-52867463
158KRT6A120.97640117994140169552886708-52886714, 52886772-52886796, 52886907-52886914
159KRT5120.999435984207561177352908896
160RPS26120.931034482758622434856436325-56436348
161CYP27B1120.999345121152591152758159893
162TSFM120.971370143149282897858176585-58176612
163GNS120.999397227245331165965152978
164LEMD3120.997076023391818273665563620-65563623, 65563627, 65564891-65564892, 65639522
165CEP290120.9958333333333331744088443056-88443070, 88449440-88449455
166TMPO120.9904076738609120208598909888-98909893, 98925554-98925556, 98925598, 98925601-98925607, 98926610, 98927643, 98928012
167UNG120.998938428874731942109535607
168MMAB120.997343957503322753110011273, 110011276
169MVK120.9991603694374511191110034249
170TRPV4120.9717125382263742616110221426, 110221429-110221431, 110221439, 110221445-110221446, 110221541-110221548, 110222166, 110224641, 110234507-110234509, 110236431-110236433, 110236479, 110236574, 110236578, 110246162-110246167, 110246216-110246237, 110252423-110252437, 110252574-110252575, 110252578, 110252584-110252585
171ATXN2120.832825976661596593942111891481-111891501, 111895161, 111926541, 112036588-112037162, 112037197-112037204, 112037208-112037220, 112037227, 112037233, 112037266-112037301, 112037317-112037318
172ACADS120.9991928974979811239121176969
173HNF1A120.97151898734177541896121434190, 121434197-121434200, 121434443-121434451, 121434454-121434458, 121434510-121434513, 121435312-121435313, 121435361, 121435413-121435416, 121437297-121437303, 121437379, 121437382-121437384, 121437395, 121437407-121437413, 121438902-121438906
174HPD120.9966159052453541182122295335, 122295708-122295710
175PUS1120.84112149532712041284132414269-132414287, 132414299-132414341, 132414452-132414458, 132414469-132414475, 132414483, 132414486-132414491, 132414494-132414528, 132414541-132414574, 132414616, 132416805-132416817, 132425974, 132425982-132425986, 132426078-132426080, 132426086, 132426090-132426091, 132426187-132426203, 132426257, 132426315-132426316, 132426489-132426494
176CENPJ130.999751058003491401725482167
177B3GALTL130.9926519706078811149731774270-31774280
178BRCA2130.9993175392414971025732903599-32903603, 32968910-32968911
179SUCLA2130.9885057471264416139248571063-48571078
180ZIC2130.744215134459044091599100634341-100634371, 100634388-100634422, 100634455-100634486, 100634535-100634552, 100634593-100634608, 100634691-100634706, 100634739, 100634742, 100634745-100634746, 100634793-100634831, 100635008-100635013, 100637320-100637323, 100637591-100637632, 100637658-100637675, 100637702-100637740, 100637746, 100637755, 100637768-100637786, 100637805-100637887, 100637912, 100637929-100637932
181PCCA130.9958847736625592187101101506-101101513, 101101559
182ERCC5130.99622552488795164239103468880-103468888, 103518258-103518261, 103519162-103519164
183COL4A1130.99640718562874185010110959355-110959372
184F7130.2052434456928810611335113760156-113760219, 113765004-113765015, 113765026-113765153, 113765159-113765164, 113768066-113768090, 113768161-113768162, 113768206-113768214, 113768249-113768274, 113769974-113770114, 113771080-113771121, 113771148-113771189, 113771802, 113771829-113771832, 113771835, 113771838, 113771851-113771854, 113771862, 113771878-113771910, 113772727-113773015, 113773024-113773070, 113773097-113773106, 113773118, 113773132-113773196, 113773207-113773208, 113773218-113773322
185F10130.784594410361283161467113777170-113777239, 113798216, 113798227, 113798234, 113798250-113798256, 113798288, 113798373, 113798390-113798409, 113801731, 113801756, 113803245, 113803257, 113803298-113803341, 113803368-113803370, 113803392-113803429, 113803451-113803472, 113803537-113803563, 113803569-113803614, 113803632-113803638, 113803776, 113803798-113803819
186GRK1130.93380614657211121692114321768-114321783, 114321859-114321861, 114321920-114321951, 114322104-114322110, 114325867-114325872, 114325948-114325971, 114426047-114426061, 114426083, 114426087-114426092, 114426101, 114434216
187SLC7A7140.999348958333331153623282126
188PABPN1140.986970684039091292123790779, 23791019-23791029
189NRL140.966386554621852471424550533, 24550540, 24550545-24550553, 24550609-24550611, 24551741, 24551750, 24551782-24551787, 24551806-24551807
190PCK2140.9932397295891813192324572452-24572464
191TGM1140.9837000814995940245424723919-24723925, 24724223-24724237, 24724299-24724307, 24724376, 24724718, 24728939-24728945
192FOXG1140.80204081632653291147029236520-29236532, 29236676-29236683, 29236686-29236721, 29236731-29236964
193CFL2140.99600798403194250135182488-35182489
194NKX2-1140.9850746268656718120636986831-36986848
195FANCM140.9982105091914811614745618127-45618128, 45623952-45623960
196MGAT2140.99851190476192134450088061-50088062
197C14orf104140.9645982498011189251450094757, 50100742-50100766, 50100777-50100779, 50100936-50100957, 50101048-50101054, 50101120-50101126, 50101345-50101357, 50101459-50101466, 50101476, 50101533, 50101537
198PYGL140.996462264150949254451410946-51410952, 51411117, 51411120
199GCH1140.985391766268261175355369074-55369080, 55369272, 55369285-55369287
200SYNE2140.9999517467670312072464497851
201VSX2140.9815837937384920108674706378-74706380, 74706394, 74706403, 74706407-74706411, 74706424-74706429, 74706459, 74706470-74706472
202EIF2B2140.9895833333333311105675471582-75471588, 75471591-75471592, 75471599, 75471603
203MLH3140.999541494727192436275506655, 75506664
204FLVCR2140.999367488931061158176045634
205ESRRB140.9777341191879534152776957790-76957794, 76957953-76957954, 76957958, 76964696-76964721
206POMT2140.9667110519307675225377786777-77786795, 77786867-77786905, 77786965-77786981
207GALC140.998542274052483205888411932, 88459401-88459402
208ATXN3140.993554327808477108692537328-92537330, 92559651-92559654
209AMN140.1563876651982411491362103389026-103389035, 103389063-103389068, 103390048-103390069, 103390128-103390163, 103390272-103390316, 103394763-103394786, 103394792-103394822, 103395095-103395132, 103395152-103395236, 103395244, 103395255-103395258, 103395265, 103395278-103395312, 103395458-103395512, 103395518-103395595, 103395765-103395812, 103395824, 103395832-103395873, 103395992-103396074, 103396261-103396386, 103396402-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
210INF2140.255227933750105167703-105167757, 105167766-105167770, 105167778, 105167782-105167786, 105167789, 105167826-105167901, 105167911, 105167924-105167997, 105168004-105168065, 105169461-105169472, 105169496-105169544, 105169555-105169557, 105169632-105169653, 105169659, 105169662-105169684, 105169686, 105169708-105169770, 105169781-105169791, 105170253-105170286, 105172372-105172408, 105172415-105172477, 105172499-105172507, 105173247-105173269, 105173287, 105173301-105173340, 105173351-105173363, 105173609-105173613, 105173635-105173640, 105173643-105173795, 105173815-105174339, 105174773-105174775, 105174780-105174828, 105174836, 105174848-105174849, 105174855-105174867, 105174879-105174905, 105174922-105174924, 105175033-105175069, 105175618-105175626, 105175654-105175656, 105175667-105175682, 105175957-105175973, 105175980-105176042, 105176425-105176525, 105177277-105177280, 105177289-105177317, 105177322-105177324, 105177327-105177344, 105177416-105177420, 105177427-105177438, 105177458-105177519, 105177966-105178010, 105178024-105178036, 105178770-105178797, 105178820-105178890, 105179167-105179204, 105179213, 105179217-105179288, 105179304-105179329, 105179544-105179550, 105179557-105179561, 105179586-105179646, 105179788, 105179797-105179863, 105179891-105179913, 105179931-105179943, 105180540-105180575, 105180586-105180663, 105180706-105180750, 105180770-105180782, 105180785, 105180805, 105180822-105180849, 105180868-105180915, 105180926-105181002, 105181006, 105181025-105181036, 105181048-105181052, 105181073-105181113, 105181121-105181161, 105181626, 105181630-105181671, 105181675
211NIPA1150.8202020202020217899023086234-23086411
212OCA2150.9956297179181611251728230301, 28273154-28273161, 28273169-28273170
213SPRED1150.999250936329591133538614525
214CHST14150.9832007073386419113140763472-40763478, 40763518-40763529
215TTBK2150.9941097724230322373543103891-43103896, 43103921-43103931, 43103971-43103975
216STRC150.9962462462462520532843896306-43896312, 43897499, 43908563, 43910351-43910357, 43910440, 43910867-43910869
217STRC150.995384615384629195044008025, 44009619, 44009813-44009819
218SPG11150.99686306601223733244912434-44912447, 44914941-44914949
219DUOX2150.9950505702603823464745403389, 45403441-45403462
220SLC12A1150.999696969696971330048561942
221FBN1150.999767873723312861648739007-48739008
222MAP2K1150.993231810490698118266782907-66782914
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224HEXA150.998742138364782159072668069, 72668131
225HCN4150.81644518272425663361273615010-73615035, 73615113-73615136, 73615393, 73615473-73615483, 73615518-73615525, 73615740-73615745, 73616011, 73616206, 73616467-73616482, 73659844-73659867, 73659968-73659988, 73660001-73660008, 73660024-73660255, 73660271-73660297, 73660315-73660382, 73660394-73660413, 73660422-73660463, 73660485-73660611
226PSTPIP1150.141486810551561074125177310489-77310575, 77310584-77310589, 77310798-77310872, 77317625-77317644, 77317839-77317853, 77317865, 77317872-77317874, 77317897-77317945, 77320193, 77320198-77320209, 77320223, 77320237-77320254, 77320895-77320930, 77320946-77320993, 77321870-77321878, 77321912-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
227RPS17150.9828431372549740882823387-82823393
228RPS17150.9828431372549740883207730-83207736
229POLG150.998387096774196372089876828-89876833
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231BLM150.97484720263282107425491337397-91337428, 91337472-91337478, 91337512-91337555, 91337564-91337587
232IGF1R150.998294346978567410499192871-99192873, 99192900, 99500585-99500587
233HBZ160.57109557109557184429202913-202914, 202937, 202960-202989, 203956-203976, 203995, 204000, 204022, 204035-204082, 204090-204095, 204271-204331, 204387-204398
234HBM160.988262910798125426216328-216332
235HBA2160.9277389277389331429222912-222935, 222964-222966, 222981, 223139, 223176, 223197
236GNPTG160.52396514161224379181401967-1402018, 1402103-1402151, 1402240-1402307, 1411744-1411761, 1411771-1411798, 1411904-1411944, 1412039-1412063, 1412088-1412132, 1412207-1412221, 1412233-1412234, 1412246-1412287, 1412309-1412321, 1412454-1412456, 1412499, 1412515-1412520, 1412625-1412630, 1412698-1412699, 1412889-1412907, 1413025, 1413032
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238IGFALS160.31728778467909131919321840601, 1840613-1840655, 1840669-1840672, 1840733, 1840736-1840749, 1840756-1840784, 1840807-1840829, 1840847-1840848, 1840854-1840864, 1840874-1840903, 1840910-1840951, 1840976-1841190, 1841202, 1841224-1841297, 1841309-1841318, 1841330-1841383, 1841391-1841397, 1841409-1841615, 1841622-1841646, 1841692, 1841724, 1841736-1841739, 1841744, 1841754-1841755, 1841759-1841760, 1841763, 1841767-1841783, 1841786-1841797, 1841812-1841859, 1841865-1841896, 1841903-1841926, 1841942-1841967, 1841971, 1841977, 1841990, 1841993-1841998, 1842018-1842020, 1842025-1842026, 1842039-1842075, 1842078-1842125, 1842167-1842213, 1842225-1842292, 1842299-1842345, 1842362-1842434, 1842464-1842472, 1842493-1842504
239GFER160.522653721682852956182034220-2034251, 2034277-2034322, 2034332-2034372, 2034383-2034477, 2034748, 2034770-2034796, 2034854, 2034862-2034869, 2034890, 2034922-2034942, 2035919, 2036009-2036029
240TSC2160.40652654867257321954242098673, 2098677, 2098744-2098754, 2100429-2100430, 2100459-2100463, 2103343-2103347, 2103404, 2103436-2103439, 2106202-2106206, 2108748-2108774, 2108790-2108816, 2108837-2108847, 2108863-2108874, 2110671-2110712, 2110724-2110747, 2110770-2110814, 2111942-2111952, 2112534-2112548, 2112592-2112593, 2112600-2112601, 2112981-2112988, 2112996-2113007, 2113011-2113051, 2114273-2114296, 2114340-2114356, 2114428, 2115559-2115566, 2115576-2115580, 2115604-2115636, 2120457-2120505, 2120525-2120541, 2120549-2120576, 2121512-2121570, 2121843-2121846, 2121857-2121867, 2121872-2121894, 2121901-2121935, 2122242-2122258, 2122312-2122319, 2122333-2122364, 2122877-2122878, 2122883-2122901, 2122955-2122961, 2124201-2124242, 2124262-2124333, 2124342-2124386, 2125800-2125811, 2125817-2125841, 2125880-2125893, 2126069-2126097, 2126124-2126149, 2126504-2126512, 2126535-2126551, 2126563-2126586, 2127599-2127618, 2127626-2127702, 2127721-2127727, 2129033-2129101, 2129122-2129148, 2129157-2129178, 2129185-2129197, 2129277-2129303, 2129311-2129316, 2129327-2129333, 2129338, 2129353-2129414, 2129568-2129570, 2129575, 2129578-2129595, 2129604-2129614, 2129620-2129670, 2130166-2130180, 2130187-2130364, 2130374-2130378, 2131596-2131732, 2131750-2131799, 2132442-2132505, 2133696-2133768, 2133782-2133817, 2134229-2134265, 2134268-2134287, 2134303, 2134310, 2134313-2134401, 2134419-2134716, 2134952-2135010, 2135018-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137884-2137942, 2138049-2138060, 2138082-2138086, 2138119-2138136, 2138228-2138240, 2138264-2138326, 2138493-2138547, 2138561-2138611
241PKD1160.01293370508054512745129122139728-2140195, 2140286-2140504, 2140513-2140591, 2140675-2140809, 2140885-2141175, 2141435-2141598, 2141782-2141857, 2141867-2141907, 2142048-2142068, 2142080-2142182, 2142481-2142579, 2142592-2142593, 2142955-2142984, 2143000-2143094, 2143545-2143599, 2143624-2143674, 2143699-2143736, 2143812-2143873, 2143894-2144000, 2144005-2144006, 2144012-2144014, 2144093-2144200, 2144210-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185496, 2185502-2185690
242ABCA3160.8991202346041151651152328382-2328422, 2329046-2329052, 2331036, 2331102, 2331137-2331175, 2331502-2331510, 2333197-2333212, 2333233-2333239, 2333258, 2333333, 2333345-2333356, 2334303-2334328, 2334960-2334973, 2338069-2338092, 2338308-2338309, 2342183-2342185, 2342192, 2345638-2345640, 2345648-2345649, 2345738-2345741, 2347330-2347346, 2347372-2347381, 2347388-2347391, 2347394-2347406, 2347421-2347422, 2347471, 2347489-2347494, 2347774-2347802, 2347843, 2347849, 2347855-2347856, 2347864, 2347869-2347870, 2347875, 2348387-2348416, 2348497-2348536, 2349411-2349460, 2350006, 2350050-2350066, 2350093-2350131, 2354079-2354111, 2354132, 2354142
243MEFV160.99914748508099223463297152, 3297175
244SLX4160.997820163487741255053645645-3645650, 3647902-3647907
245CREBBP160.9705280392959521673293777759-3777778, 3777786-3777790, 3777797-3777798, 3778151-3778159, 3778307, 3778315-3778318, 3778439-3778461, 3778562-3778566, 3778620-3778655, 3778665-3778689, 3778708, 3778784-3778794, 3778932-3778957, 3779137-3779176, 3779407-3779414
246GLIS2160.084444444444444144215754382282-4382297, 4382304-4382346, 4382376-4382434, 4383348-4383371, 4383385-4383388, 4383392, 4383395-4383396, 4383422-4383475, 4383483-4383520, 4384802-4384901, 4384920-4384978, 4385061-4385176, 4385188-4385194, 4385276-4385394, 4386726-4387525
247ALG1160.8451612903225821613955121876, 5121886-5121899, 5121902, 5127446, 5128823-5128844, 5128853-5128861, 5128864, 5128869-5128871, 5129074-5129100, 5130996-5131002, 5131005, 5131015-5131057, 5132633-5132656, 5134751-5134760, 5134815-5134846, 5134863-5134882
248ABAT160.980039920159683015038868846-8868852, 8873399-8873421
249MYH11160.9961279461279523594015797938-15797949, 15850332-15850341, 15869949
250ABCC6160.751329787234041122451216255302-16255367, 16256867-16256878, 16256924-16256975, 16256985-16256998, 16257004-16257010, 16259480-16259603, 16259614-16259710, 16259728-16259735, 16259741-16259790, 16263503-16263710, 16267141-16267261, 16269768-16269823, 16269826-16269836, 16271342-16271361, 16271373-16271374, 16271388-16271392, 16271396, 16271409, 16271411-16271483, 16272674-16272676, 16272695-16272703, 16272751-16272771, 16272794-16272819, 16276297-16276307, 16276370-16276372, 16276399, 16276403, 16276411, 16276418-16276432, 16276440-16276444, 16276728-16276770, 16276784-16276785, 16282759, 16282763, 16284162, 16291885, 16291951-16291955, 16291958-16291960, 16292013-16292014, 16297407-16297427, 16313505-16313522
251UMOD160.9895995839833620192320359873-20359877, 20360231-20360235, 20360303, 20360330-20360338
252OTOA160.9926900584795325342021756256-21756272, 21768443-21768450
253OTOA160.974899598393572599622572379-22572395, 22584583-22584590
254COG7160.999135322092522231323464166, 23464182
255CLN3160.9643128321943847131728497675-28497680, 28497715-28497719, 28498796-28498799, 28499025, 28499916-28499940, 28500689-28500692, 28500695-28500696
256ATP2A1160.9963406520292711300628909602, 28914711-28914715, 28915516-28915518, 28915521, 28915526
257PHKG2160.9582309582309651122130760146-30760184, 30760206-30760214, 30764802-30764804
258VKORC1160.98577235772358749231102661-31102663, 31105936-31105938, 31105957
259FUS160.9860847564832422158131195234-31195235, 31195295-31195297, 31195321, 31195676-31195684, 31195693-31195698, 31200467
260SLC5A2160.998018821198614201931499794, 31500020, 31500362, 31500464
261NOD2160.99711815561969312350733447, 50733822, 50745531, 50746185-50746189, 50746245
262SALL1160.999245283018873397551175656-51175658
263SLC12A3160.90817976075008284309356899153-56899160, 56899211-56899222, 56899338-56899359, 56899407-56899429, 56901099-56901128, 56903661-56903672, 56904552-56904573, 56906570, 56906573, 56911995-56912006, 56913020-56913048, 56913100-56913103, 56913505, 56914088, 56920891-56920910, 56920996-56921005, 56921848-56921897, 56921909-56921932, 56936401-56936402
264GPR56160.92393410852713157206457684210-57684211, 57684242-57684246, 57685112-57685123, 57685244, 57685279-57685285, 57687228-57687229, 57687966-57687972, 57689312, 57689317-57689320, 57689333-57689343, 57689396-57689434, 57689845, 57691329, 57691353-57691374, 57693377-57693389, 57695639-57695648, 57695655-57695657, 57695668-57695670, 57695686, 57695697, 57695704, 57695713, 57695718-57695722, 57695865-57695868
265HSD11B2160.78653530377668260121867465152-67465369, 67465375-67465398, 67465408-67465416, 67469993-67470001
266LCAT160.91232048374906116132367973878-67973887, 67973967-67973971, 67973990, 67974142-67974151, 67974191-67974203, 67974208-67974210, 67976421, 67976468-67976488, 67976574-67976581, 67976773-67976782, 67976959-67976982, 67976989-67976995, 67977009, 67977997, 67978002
267CDH3160.94538152610442136249068713739-68713741, 68716372-68716378, 68718493, 68718529, 68718595-68718601, 68718675-68718695, 68719251-68719253, 68721468-68721470, 68721498, 68721589-68721590, 68721594-68721598, 68721602-68721613, 68725639-68725673, 68725715-68725722, 68725745, 68725749-68725756, 68725781-68725793, 68725825-68725829
268CDH1160.9905624764061925264968771327-68771335, 68771343-68771344, 68771348-68771350, 68771353-68771356, 68771360-68771366
269CIRH1A160.9907811741872919206169177170, 69177177-69177185, 69188334-69188342
270COG8160.89559543230016192183969364742-69364798, 69364805-69364867, 69364886, 69364898-69364901, 69364932-69364956, 69364983-69364987, 69366687, 69366692, 69366780-69366785, 69368674, 69373214-69373237, 69373328-69373331
271AARS160.999312005503962290770298893, 70301630
272HP160.9967239967244122172091295, 72091307-72091308, 72091311
273GCSH160.837164750957858552281129736-81129740, 81129765-81129811, 81129822-81129825, 81129855-81129883
274GAN160.996098104793767179481348759-81348765
275MLYCD160.97233468286141148283932822, 83932922-83932928, 83932994-83933004, 83933091-83933102, 83933111-83933116, 83941807-83941810
276LRRC50160.9949494949494911217884209651-84209661
277FOXF1160.9692982456140435114086544176-86544180, 86544211-86544213, 86544217-86544222, 86544691-86544695, 86544778, 86544859-86544860, 86544921-86544922, 86544979-86544989
278FOXC2160.72509960159363414150686601003-86601021, 86601264-86601267, 86601272-86601273, 86601327-86601348, 86601423-86601454, 86601507-86601537, 86601594-86601665, 86601674-86601680, 86601689-86601726, 86601743-86601752, 86601759, 86601776-86601803, 86601818-86601846, 86601864-86601885, 86601895, 86601904-86601917, 86601968-86601969, 86601982-86602005, 86602037-86602046, 86602133, 86602148, 86602157-86602172, 86602189-86602209, 86602257-86602263
279JPH3160.86470850022252304224787636905, 87637129-87637134, 87678162-87678170, 87678280, 87678285-87678287, 87678292, 87678392-87678394, 87678581-87678599, 87717780-87717786, 87723313-87723374, 87723432, 87723438-87723446, 87723471-87723509, 87723541-87723550, 87723555, 87723567, 87723590-87723626, 87723656, 87723662-87723665, 87723675-87723682, 87723694-87723696, 87723765-87723772, 87723932-87723941, 87723952-87723960, 87723991-87723994, 87724060-87724106
280CYBA160.5017006802721129358888709761-88709786, 88709792-88709855, 88709863-88709865, 88709870, 88709878, 88709881, 88709895-88709928, 88709949-88709979, 88712524-88712527, 88712541, 88712551-88712555, 88712558-88712585, 88713197-88713200, 88713236, 88713515-88713517, 88713525-88713541, 88713557-88713583, 88714453-88714464, 88714502-88714504, 88717364-88717367, 88717374-88717380, 88717384-88717386, 88717389-88717401
281APRT160.4769797421731128454388876112, 88876128, 88876148-88876155, 88876171, 88876174-88876190, 88876205-88876248, 88876478-88876501, 88876524-88876554, 88876839-88876869, 88876928-88876947, 88877973, 88878001-88878023, 88878032-88878058, 88878233, 88878238, 88878242-88878256, 88878270-88878307
282GALNS160.81644359464627288156988880886-88880892, 88880896-88880905, 88880925, 88884449-88884462, 88884470-88884500, 88884521-88884532, 88888997-88889036, 88889055-88889057, 88889062, 88889071-88889072, 88889089-88889118, 88891185-88891187, 88891204, 88893142-88893149, 88898414-88898420, 88902674, 88907400-88907409, 88907422-88907425, 88907440, 88907443-88907444, 88907453-88907454, 88908340, 88909114-88909126, 88909194, 88909197, 88923166-88923206, 88923245-88923285
283SPG7160.9916247906197720238889574826-89574827, 89620203, 89620352-89620368
284FANCA160.9851190476190565436889809214-89809217, 89882945-89882964, 89882970-89883010
285TUBB3160.87583148558758168135389989810, 89998989-89998991, 90001428-90001437, 90001604-90001607, 90001666-90001721, 90001736-90001744, 90001801-90001811, 90001868-90001900, 90002124-90002142, 90002168-90002170, 90002174-90002192
286PRPF8170.9941495433794170081557118-1557128, 1557211-1557215, 1587766, 1587769, 1587843-1587865
287CTNS170.7306733167082332412033550781-3550792, 3550796, 3552148, 3552176-3552183, 3558366-3558372, 3558547-3558553, 3558618-3558628, 3558635, 3559781-3559793, 3559818-3559880, 3559970-3560050, 3560074-3560081, 3560089, 3561299-3561324, 3561420-3561447, 3563172-3563174, 3563234-3563266, 3563540, 3563543-3563547, 3563605-3563612, 3563969, 3564011-3564015
288CHRNE170.9041835357624814214824802309-4802323, 4802326-4802332, 4802345-4802359, 4802400-4802402, 4802513, 4802544, 4802596-4802613, 4802780-4802806, 4804129-4804135, 4804426-4804471, 4805279, 4805283
289AIPL1170.99307359307359811556330036-6330042, 6331803
290PITPNM3170.8947008547008530829256358658-6358773, 6358785-6358830, 6358838-6358895, 6358945-6358963, 6374527, 6374575-6374594, 6374606, 6377869-6377882, 6381898-6381903, 6382022-6382026, 6459705-6459726
291ACADVL170.9110772357723617519687123304-7123316, 7123493-7123501, 7123982-7123987, 7124279, 7124857-7124861, 7124870, 7124884, 7124900-7124916, 7125271-7125278, 7125329-7125358, 7125531-7125544, 7126040-7126052, 7126119, 7126508-7126533, 7126545, 7126549-7126556, 7127371-7127372, 7127706, 7127805-7127809, 7127832, 7127961-7127962, 7128027-7128032, 7128293-7128296
292CHRNB1170.970783532536524415067348447-7348468, 7348696, 7348712-7348728, 7350250-7350251, 7350369, 7350840
293GUCY2D170.9939613526572033127906380-7906386, 7906481-7906487, 7906570-7906574, 7906581
294ALOXE3170.99719101123596621368006686-8006690, 8013749
295HES7170.98230088495575126788024937-8024940, 8024945, 8024967-8024973
296MYH3170.9946762837025631582310544416-10544422, 10555832-10555855
297ELAC2170.9903264812575624248112898094, 12898108, 12898154, 12898317-12898324, 12898331-12898338, 12899955, 12899971, 12899974, 12899985, 12899992
298PMP22170.98136645962733948315163977-15163985
299FLCN170.88448275862069201174017117048-17117058, 17117063, 17117069, 17117090-17117100, 17117135-17117138, 17118559-17118568, 17119817, 17122358-17122360, 17124857, 17124865-17124868, 17125823-17125832, 17125858-17125861, 17127251-17127290, 17127310-17127345, 17127393, 17127429, 17131226-17131275, 17131287-17131297, 17131446
300RAI1170.9949309561265529572117697094-17697105, 17697598-17697603, 17698801-17698803, 17699297-17699299, 17713288, 17713291-17713294
301MYO15A170.8520721231001615671059318022223-18022224, 18022379-18022385, 18022465, 18022474-18022480, 18022600, 18022604-18022609, 18022709, 18023271-18023284, 18023323-18023333, 18023341, 18023487-18023494, 18023576-18023577, 18023624-18023648, 18023700, 18023708, 18023714-18023715, 18023718-18023766, 18023881-18023914, 18023933-18023966, 18023982-18023991, 18024006, 18024016-18024020, 18024034-18024044, 18024046, 18024111-18024160, 18024184-18024307, 18024316-18024321, 18024332-18024372, 18024385-18024495, 18024547-18024562, 18024573, 18024577-18024630, 18024646-18024699, 18024714-18024730, 18024740, 18024745-18024761, 18024785-18024868, 18024870, 18024872-18024896, 18024925-18024940, 18024965-18024970, 18025061-18025106, 18025114-18025162, 18025170-18025204, 18025311-18025344, 18025376-18025420, 18025476-18025485, 18025555, 18025567-18025569, 18025574-18025579, 18025671-18025679, 18025704-18025705, 18027862-18027872, 18028491-18028492, 18028523-18028534, 18029662, 18029702-18029706, 18041523, 18043897-18043933, 18043964, 18044967-18044983, 18045008-18045030, 18045393-18045430, 18045471-18045482, 18045511, 18046084-18046090, 18046154, 18046880-18046884, 18046919-18046928, 18047029-18047052, 18047089-18047091, 18047203-18047227, 18047811, 18047830-18047834, 18047845, 18049215-18049256, 18049259, 18049302-18049306, 18049347-18049369, 18051375, 18051466-18051474, 18052207-18052208, 18057101-18057122, 18057167, 18057187-18057190, 18057445-18057451, 18057459-18057469, 18058521, 18058688, 18061094-18061131, 18061139-18061175, 18062660-18062661, 18070950, 18070953-18070955, 18070962, 18070965-18070977
302ALDH3A2170.9921414538310412152719575175-19575186
303UNC119170.952973720608583472326874712, 26879395-26879415, 26879423-26879425, 26879441, 26879444-26879451
304SLC6A4170.987849973586923189328543212-28543234
305NF1170.9980046948356817852029422329-29422332, 29486048-29486051, 29662013-29662016, 29667635-29667639
306TCAP170.4801587301587326250437821624, 37821671-37821709, 37821977-37822001, 37822007-37822076, 37822091-37822123, 37822143-37822144, 37822152-37822153, 37822160, 37822205-37822235, 37822248, 37822264, 37822271-37822274, 37822278-37822301, 37822311, 37822315, 37822327-37822328, 37822336-37822352, 37822356-37822362
307KRT10170.9931623931623912175538975325-38975336
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369GCDH190.90660592255125123131713002303-13002305, 13006828-13006838, 13006896-13006904, 13006908-13006911, 13007019-13007034, 13007169-13007190, 13007204-13007220, 13007780, 13008152-13008185, 13008541-13008543, 13008614-13008616
370CACNA1A190.92673846562957551752113318153-13318155, 13318192-13318193, 13318245-13318246, 13318260-13318261, 13318280-13318309, 13318325-13318371, 13318374-13318420, 13318435-13318436, 13318443, 13318473-13318497, 13318510-13318629, 13318638-13318726, 13318739-13318761, 13318770-13318799, 13318811, 13318833-13318857, 13318864-13318867, 13319602-13319648, 13319692-13319697, 13409601-13409607, 13409876-13409902, 13616952-13616954, 13616958, 13617013-13617019
371NOTCH3190.93697961527419439696615272207-15272208, 15272245, 15285052-15285054, 15285059, 15285082-15285122, 15285135-15285166, 15285198-15285211, 15288506, 15288563, 15288567, 15289701, 15291851, 15291866, 15291905, 15295131-15295134, 15298735, 15299051, 15299842, 15299845, 15299850, 15299859, 15299863, 15299945-15299954, 15300100, 15300112, 15300180-15300183, 15300191, 15302248, 15302263-15302265, 15302307-15302352, 15302370-15302400, 15302433-15302436, 15302454, 15302467-15302468, 15302566, 15302644-15302645, 15302663-15302664, 15302667, 15302771-15302774, 15302824-15302829, 15302838, 15302889, 15302921-15302984, 15302990-15303001, 15303019, 15303023, 15303039-15303045, 15303090, 15303188-15303201, 15303214, 15303221-15303227, 15303294, 15303300, 15308328-15308334, 15308342, 15311599-15311636, 15311643-15311668, 15311674, 15311696-15311716
372JAK3190.9117037037037298337517940917-17940921, 17940954-17940970, 17941015-17941027, 17946855-17946860, 17949097-17949114, 17950355-17950367, 17950391-17950394, 17953129-17953145, 17953161-17953206, 17953228-17953248, 17953258, 17953264-17953287, 17953295-17953327, 17953909-17953929, 17954212-17954214, 17954266-17954270, 17955151-17955201
373SLC5A5190.90631469979296181193217983134-17983147, 17983244-17983250, 17983329-17983349, 17984947-17984970, 17985303-17985341, 17986764-17986780, 17986848-17986855, 17988547-17988559, 17988615-17988621, 17988663, 17991690, 17991693-17991700, 17992960-17992968, 17994498-17994500, 17994517, 17999144-17999147, 17999195-17999198
374IL12RB1190.79537456008044407198918174710, 18177418, 18177421-18177434, 18177459-18177476, 18177506-18177507, 18179322-18179325, 18180387-18180391, 18180405, 18180421-18180439, 18180475-18180523, 18182939-18182944, 18182974-18182978, 18183049-18183052, 18183056-18183068, 18183115, 18186559-18186598, 18186616-18186618, 18186631, 18186636-18186640, 18186665-18186678, 18187107-18187137, 18188326-18188335, 18188347-18188349, 18188352-18188359, 18188364-18188374, 18188384-18188392, 18188395-18188406, 18188443-18188449, 18188453-18188465, 18191681-18191687, 18191693, 18191720-18191733, 18191785, 18191788-18191791, 18191802-18191811, 18192973-18192975, 18192985, 18193034-18193036, 18194258-18194266, 18197570-18197611, 18197632-18197633
375COMP190.515391380826741102227418893728-18893761, 18893770-18893771, 18893871, 18893877, 18893893, 18893903-18893916, 18893956, 18893967-18894003, 18895001-18895011, 18895056, 18895083-18895104, 18896313, 18896498-18896590, 18896599-18896636, 18896653-18896654, 18896657, 18896775-18896792, 18896804-18896805, 18896816, 18896846-18896870, 18896885-18896888, 18896895-18896899, 18896912, 18896947-18896948, 18896953-18896956, 18897068, 18897077, 18897353-18897391, 18898300-18898312, 18898360-18898365, 18898375, 18898426-18898453, 18899021-18899099, 18899237, 18899240, 18899255-18899257, 18899269, 18899284-18899285, 18899308-18899323, 18899401-18899466, 18899473-18899548, 18899551-18899559, 18899648-18899680, 18899692-18899722, 18899969-18900039, 18900065-18900090, 18900096-18900106, 18900754-18900756, 18900768-18900826, 18900847, 18900850-18900858, 18900862-18900865, 18900896, 18900903-18900920, 18901375-18901384, 18901389-18901417, 18901420-18901422, 18901659-18901701, 18901711-18901715, 18901738, 18902000-18902078
376CEBPA190.60445682451253426107733792244-33792247, 33792393-33792394, 33792485, 33792488-33792493, 33792572-33792583, 33792628-33792632, 33792672-33792703, 33792728, 33792749-33792752, 33792755-33792757, 33792773, 33792814-33792946, 33792973-33792990, 33793004-33793033, 33793055-33793066, 33793119-33793125, 33793143-33793179, 33793191-33793270, 33793283-33793320
377SCN1B190.951672862453533980735521725-35521763
378MAG190.90590111642743177188135790457-35790525, 35790531-35790537, 35790585-35790601, 35790646-35790647, 35790651-35790653, 35791075-35791123, 35791138-35791146, 35791154-35791158, 35791218, 35793462-35793466, 35793522-35793523, 35793526, 35793593-35793594, 35800807, 35802908-35802911
379PRODH2190.9894475481067717161136290942-36290943, 36290968, 36303276, 36303304-36303316
380TYROBP190.6017699115044213533936398134-36398159, 36398348-36398372, 36398399-36398434, 36398447, 36398458-36398482, 36399070-36399091
381SDHAF1190.6954022988505710634836486177-36486233, 36486259-36486282, 36486405-36486427, 36486445, 36486448
382WDR62190.9940944881889827457236581351, 36595729, 36595849-36595872, 36595907
383RYR1190.9054045114771414301511738931470-38931481, 38937334-38937366, 38976656-38976673, 38979841-38979848, 38979895-38979897, 38979989, 38979992-38979999, 38980003-38980004, 38980056-38980058, 38980726-38980729, 38980739-38980741, 38980837-38980839, 38980867-38980873, 38981267-38981289, 38981353, 38983221-38983223, 38983228-38983231, 38984992-38985010, 38985038, 38985092-38985100, 38986855-38986882, 38986886-38986888, 38986890-38986894, 38986909-38986914, 38986920-38986930, 38986935, 38986951-38986969, 38987049-38987052, 38987056-38987065, 38987099-38987102, 38987113-38987116, 38987128-38987159, 38987500-38987594, 38989773-38989798, 38990313-38990350, 38990371-38990407, 38990416-38990449, 38990553-38990593, 38990636-38990655, 38991285, 38991297, 38991462, 38991469-38991470, 38991476-38991480, 38991492, 38991577-38991584, 38993366, 38993544-38993566, 38994888-38994894, 38995448-38995471, 38995671-38995696, 38995953-38995954, 38995975-38995980, 38995983, 38996020, 38996466, 38996522-38996531, 38996954, 38998352-38998369, 38998411-38998442, 39006757-39006775, 39018336, 39018411, 39037086-39037106, 39037144, 39055613-39055651, 39055676-39056096, 39056110-39056124, 39056147-39056178, 39056199-39056251, 39056265-39056270, 39056275-39056278, 39056294-39056320, 39056344-39056347, 39056350, 39056399-39056405, 39063817, 39068811-39068813, 39068822, 39068827, 39075662-39075663, 39075677, 39075693-39075699, 39075706, 39075723, 39075735-39075739
384ACTN4190.86476608187134370273639138457, 39138494-39138521, 39207943-39207956, 39208688-39208691, 39214277-39214279, 39214315-39214328, 39214354-39214357, 39214603-39214639, 39214659-39214661, 39214687-39214696, 39214797-39214801, 39214827-39214832, 39214858-39214861, 39214866, 39214871, 39214874, 39214897-39214939, 39214960-39214961, 39215071-39215084, 39215101-39215120, 39215154-39215157, 39216364-39216379, 39216441-39216463, 39216474-39216497, 39218643-39218651, 39219636-39219639, 39219688, 39219709, 39219715, 39219772, 39219786-39219794, 39219915-39219954, 39219973, 39219985, 39220034-39220053
385DLL3190.9919224555735115185739993611-39993625
386PRX190.96215230278158166438640900180-40900182, 40901298-40901347, 40902043, 40902468-40902485, 40903464-40903476, 40909616-40909653, 40909718-40909737, 40909747-40909769
387TGFB1190.9778346121057126117341837038, 41837065-41837066, 41837076, 41838164-41838176, 41838179-41838180, 41858711, 41858900-41858905
388BCKDHA190.84304932735426210133841916564-41916581, 41919970-41919976, 41920050, 41920059, 41925125, 41928230-41928237, 41928534-41928566, 41928577-41928619, 41928652, 41928926-41928976, 41929006-41929007, 41930365-41930368, 41930396, 41930423-41930456, 41930509-41930513
389ATP1A3190.95187601957586177367842470753-42470762, 42470798-42470817, 42470919, 42471013-42471028, 42471047-42471053, 42471093, 42471322, 42471445-42471451, 42471907, 42480568-42480583, 42480589-42480600, 42482897, 42486060-42486066, 42489070-42489083, 42489119-42489137, 42489279, 42489302-42489338, 42498223-42498228
390BCAM190.9644939056703867188745312382-45312387, 45312403-45312452, 45323982, 45324070-45324079
391ERCC2190.89093298291721249228345867004-45867031, 45867035, 45867076-45867123, 45867156-45867169, 45867265-45867300, 45867331-45867332, 45867342-45867346, 45867374-45867377, 45867511-45867535, 45867696-45867732, 45868354-45868379, 45873462-45873477, 45873489-45873490, 45873794-45873798
392SIX5190.89594594594595231222046268870, 46268926, 46268973-46268977, 46268981, 46269151-46269153, 46269205-46269231, 46269302-46269347, 46269687, 46269761, 46269949-46269955, 46269978-46270024, 46270147-46270163, 46270366-46270381, 46271320, 46271378, 46271595-46271609, 46271800, 46271806-46271807, 46271828-46271855, 46271893, 46271933, 46271936, 46271954-46271956, 46271964, 46272038-46272039, 46272065
393DMPK190.93227513227513128189046274275, 46274278-46274280, 46274293-46274294, 46278287-46278290, 46280702-46280704, 46281855-46281872, 46283084-46283102, 46285518-46285560, 46285576-46285610
394FKRP190.87298387096774189148847258773-47258777, 47259041-47259074, 47259120-47259122, 47259222-47259239, 47259268-47259293, 47259356, 47259369-47259406, 47259439-47259444, 47259479-47259485, 47259514-47259531, 47259643-47259653, 47259663, 47259670-47259673, 47259679-47259680, 47259686, 47259725-47259728, 47259945-47259948, 47260175-47260180
395DBP190.6002044989775139197849134140, 49134169, 49134172, 49134194, 49134199-49134202, 49134206-49134207, 49134219, 49134306-49134309, 49136861, 49138837-49139029, 49139043-49139086, 49139102-49139206, 49139210, 49139215-49139216, 49139235, 49139246, 49140154-49140172, 49140187, 49140190-49140191, 49140194-49140197, 49140204, 49140221
396BCAT2190.9915182357930410117949303007-49303011, 49303062-49303063, 49303355-49303357
397GYS1190.9805781391147243221449494663, 49494718-49494721, 49496287-49496291, 49496293-49496294, 49496310-49496340
398MED25190.89661319073084232224450321599-50321600, 50321612-50321633, 50321684-50321691, 50321846-50321850, 50321858, 50333425-50333427, 50333774-50333786, 50334066-50334085, 50334098, 50335402-50335408, 50338408-50338431, 50338791-50338797, 50338819-50338834, 50338861-50338862, 50338995, 50338999, 50339002, 50339031-50339040, 50339087, 50339090, 50339127-50339130, 50339194-50339196, 50339199-50339202, 50339489-50339500, 50339555-50339558, 50339642, 50339652-50339658, 50340106, 50340119-50340120, 50340135-50340142, 50340158-50340197
399PNKP190.998722860791832156650365813-50365814
400MYH14190.9851088201603791611150752982-50753004, 50764746, 50764821-50764850, 50764884-50764887, 50766640-50766658, 50789924-50789930, 50796559-50796565
401KCNC3190.76956904133685524227450823524-50823545, 50823558-50823564, 50823582-50823583, 50826261-50826277, 50826312-50826361, 50826380, 50826391-50826399, 50826408-50826425, 50826455, 50826458, 50826477-50826479, 50826591-50826599, 50826690, 50831690-50831693, 50831705-50831706, 50831717-50831768, 50831780-50831781, 50831872-50831899, 50831929-50832026, 50832031-50832041, 50832089-50832091, 50832094-50832104, 50832142-50832156, 50832183-50832339
402ETFB190.99711815561963104151857573-51857575
403NLRP12190.8653483992467429318654299255-54299262, 54301666, 54304523, 54304555-54304558, 54304585-54304635, 54307225-54307227, 54307234, 54307342, 54307347-54307349, 54307352-54307358, 54308543, 54310897-54310899, 54310904, 54312841-54312895, 54313030-54313066, 54313119-54313134, 54313176-54313188, 54313337, 54313411-54313413, 54313441, 54313556-54313570, 54313585-54313600, 54313637-54313638, 54313660-54313687, 54313707-54313710, 54313757, 54313788-54313797, 54313808-54313812, 54313880-54313902, 54314003-54314028, 54314128-54314132, 54314255-54314270, 54314286, 54314313-54314341, 54314383-54314400, 54314420-54314433, 54314459, 54314462-54314465
404PRKCG190.9512893982808102209454385896, 54385902, 54392911-54392947, 54392980-54392984, 54401719-54401727, 54401794-54401795, 54401841-54401843, 54401875, 54409967-54409968, 54409973, 54410064-54410103
405PRPF31190.62866666666667557150054621659, 54621676-54621727, 54621768, 54621776-54621780, 54621795-54621801, 54621815-54621820, 54621953-54621966, 54625895-54625910, 54625960-54625962, 54627128-54627153, 54627169-54627170, 54627175-54627176, 54627878-54627879, 54627941-54628000, 54629951-54629977, 54631448-54631479, 54631508-54631521, 54631550, 54631574, 54631680-54631692, 54631721-54631742, 54632432-54632479, 54632498-54632505, 54632532-54632560, 54632647-54632745, 54634738-54634765, 54634772-54634778, 54634812-54634824, 54634838, 54634847-54634863
406TSEN34190.971061093247592793354695295-54695308, 54695359-54695368, 54695373, 54695376, 54696066
407TNNT1190.5627376425855534578955644283-55644328, 55645255-55645295, 55645434-55645447, 55645472-55645524, 55648520, 55648552-55648580, 55649329-55649332, 55649341-55649359, 55649408-55649442, 55652257-55652287, 55652307-55652318, 55652560-55652567, 55652599-55652607, 55652624-55652625, 55652628-55652651, 55653225-55653236, 55653254, 55657825, 55658050-55658051, 55658057
408TNNI3190.7963875205254512460955665398-55665399, 55665429, 55665440, 55665483-55665490, 55665561-55665564, 55666109-55666157, 55666187-55666198, 55667589, 55667592, 55667636, 55667667-55667699, 55667992, 55668421-55668427, 55668461, 55668481, 55668484
409TPO20.9029264810849427228021440044-1440049, 1481154-1481155, 1488387, 1497612-1497616, 1520655-1520754, 1544366-1544495, 1546219-1546246
410RPS720.98290598290598105853623412, 3623460-3623468
411KLF1120.9727095516569242153910183844-10183885
412MYCN20.88602150537634159139516082306-16082325, 16082384-16082393, 16082430-16082474, 16082613-16082668, 16082688, 16082849, 16082853-16082862, 16082878, 16082890-16082903, 16082961
413APOB20.99802804557406271369221225321, 21266768-21266793
414POMC20.985074626865671280425384424-25384435
415HADHA20.9851657940663234229226414415-26414441, 26438004-26438010
416OTOF20.97397397397397156599426695417, 26697381-26697394, 26697417-26697457, 26699759-26699785, 26699793-26699824, 26699888, 26700102, 26700124-26700151, 26705274-26705284
417C2orf7120.999224204809933386729295016, 29295451, 29295676
418ALK20.9950647748303524486329430051, 29430061-29430062, 29432657-29432674, 30143514-30143515, 30143518
419XDH20.9792603698150983400231570403-31570409, 31570470-31570472, 31570490, 31570493-31570494, 31571170-31571202, 31571216-31571224, 31571786, 31571841-31571846, 31572565-31572574, 31572921-31572927, 31572976, 31588973-31588975
420SPAST20.9832522960561931185132289089-32289092, 32289211-32289237
421CYP1B120.93137254901961112163238301573-38301577, 38301980-38302025, 38302042-38302064, 38302177, 38302283-38302286, 38302387-38302393, 38302413-38302438
422SOS120.997751124437789400239281923-39281931
423ABCG520.999488752556241195644058994
424ABCG820.7349159248269536202244099115-44099135, 44099161-44099242, 44099262-44099277, 44099362-44099445, 44100936-44100979, 44100995-44101125, 44101554, 44101570-44101586, 44101613-44101622, 44102290, 44102294, 44102304-44102305, 44102309-44102310, 44102340-44102387, 44102395-44102397, 44102422-44102426, 44102431-44102441, 44102451, 44102469-44102481, 44102513-44102534, 44104756-44104773, 44104925, 44104961, 44104969
425EPCAM20.952380952380954594547596645, 47596662-47596692, 47600659-47600660, 47601124-47601134
426MSH220.9860962566844939280547630360-47630362, 47630388-47630401, 47630450-47630453, 47639609-47639610, 47657034-47657037, 47710021-47710022, 47710034-47710043
427MSH620.982610825373571408348010479-48010486, 48010503, 48010526-48010555, 48010561-48010579, 48010596, 48010607, 48010611-48010616, 48010622-48010626
428NRXN120.999774011299431442551255357
429ATP6V1B120.9922178988326812154271163085-71163086, 71163092-71163101
430MCEE20.99811676082863153171351582
431DYSF20.9911949685534656636071796963-71796964, 71801445, 71801453-71801460, 71825823-71825825, 71825850-71825860, 71829906-71829918, 71847677-71847694
432SPR20.980916030534351578673114624-73114632, 73114790-73114793, 73114800, 73114848
433ALMS120.99328214971209841250473613028-73613074, 73827996-73828008, 73828322-73828345
434MOGS20.9856801909307936251474689385-74689391, 74689608-74689611, 74689853-74689873, 74692359-74692361, 74692367
435HTRA220.996368917937555137774757252-74757256
436SUCLG120.991354466858799104184686322-84686324, 84686337-84686342
437GGCX20.999560825647781227785788108
438SFTPB20.999127399650961114685889196
439REEP120.965346534653472160686564613-86564633
440EIF2AK320.996717397791711335188926730-88926735, 88926744-88926748
441TMEM12720.940027894002794371796931024-96931038, 96931075-96931076, 96931081-96931106
442ZAP7020.99946236559141186098340542
443RANBP220.920930232558147659675109336114-109336134, 109347317-109347341, 109347917-109347930, 109352023-109352029, 109352142-109352191, 109357110-109357126, 109363180, 109363251-109363254, 109365376-109365394, 109365426, 109367720-109367739, 109367751-109367777, 109367984, 109368082-109368111, 109369456-109369488, 109369882-109369906, 109370357-109370403, 109371659, 109374869-109374894, 109374947-109374983, 109378557-109378598, 109378618-109378628, 109382787-109382793, 109382937-109382946, 109383082-109383126, 109383268-109383274, 109383357, 109383655-109383682, 109383768-109383807, 109383825, 109383885-109383910, 109383932-109383938, 109384004-109384034, 109384164-109384205, 109384393-109384421, 109384561-109384591, 109384803
444MERTK20.9973333333333383000112656325-112656331, 112740473
445GLI220.951060701533292334761121708902, 121728010-121728030, 121728142-121728182, 121729539-121729542, 121729566-121729613, 121745993, 121746141, 121746144-121746150, 121746252-121746288, 121746373-121746376, 121746380-121746382, 121746560-121746580, 121746599-121746600, 121747163-121747203, 121747419
446BIN120.918069584736251461782127806120, 127806133-127806139, 127806194-127806199, 127808042-127808063, 127808457, 127808469, 127808472, 127808749, 127808809-127808815, 127809936-127809937, 127815054, 127815077-127815097, 127815099-127815100, 127815108-127815127, 127816625-127816629, 127816632-127816635, 127821205-127821211, 127825811, 127826597, 127827611-127827634, 127834229-127834237, 127834272-127834273
447PROC20.96897546897547431386128180505-128180512, 128180663-128180675, 128180683, 128180693-128180711, 128180864, 128180907
448CFC120.83035714285714114672131280363-131280395, 131280434-131280467, 131280742-131280765, 131280779, 131280789, 131280794, 131285303-131285322
449RAB3GAP120.9908350305499272946135888122-135888131, 135888196-135888211, 135890525
450LCT20.998789764868675784136558240-136558246
451NEB20.99994993491539119974152512531
452CACNB420.9993602047344811563152695712
453SCN2A20.9996676636756426018166172000, 166237643
454SCN1A20.9996664999166225997166895933-166895934
455ITGA620.99053724053724313276173292517-173292534, 173292559-173292571
456HOXD1320.9932170542635771032176957668-176957673, 176957679
457AGPS20.9984825493171531977178257646-178257648
458DFNB5920.9981114258734721059179319065-179319066
459TTN20.9997705689889123100248179514905-179514917, 179515493, 179527693-179527698, 179563640-179563641, 179572357
460CERKL20.95184490306442771599182468565-182468591, 182468637-182468661, 182468683-182468691, 182468747-182468762
461HSPD120.94715447154472911722198351835-198351882, 198352670, 198352676, 198352681-198352684, 198352688-198352699, 198353183-198353190, 198361893-198361899, 198362033-198362042
462BMPR220.99615014436959123117203378475-203378478, 203378538, 203379682-203379685, 203384817, 203395633, 203397427
463NDUFS120.9990842490842522184207018401-207018402
464WNT10A20.95374800637959581254219745805-219745809, 219757542-219757544, 219757552, 219757559-219757564, 219757568-219757575, 219757584-219757611, 219757729, 219757832-219757835, 219757883-219757884
465DES20.99079971691437131413220283700-220283701, 220283704-220283714
466OBSL120.98664558074152765691220416842-220416849, 220417333-220417335, 220417386-220417388, 220435644-220435667, 220435726-220435754, 220435929-220435937
467COL4A320.9998005186515115013228159680
468SLC19A320.9959758551307861491228563534-228563537, 228563716-228563717
469CHRND20.94916344916345791554233391239, 233393654-233393671, 233394665-233394670, 233394772-233394787, 233396092, 233396265-233396286, 233396336, 233398741-233398753, 233399895
470COL6A320.99895112229914109534238303435-238303436, 238303486-238303493
471AGXT20.94232400339271681179241808285, 241808350, 241808353-241808369, 241808410, 241808425-241808443, 241808587-241808589, 241808618, 241808630, 241808653, 241810068, 241810105-241810107, 241815371-241815373, 241816979-241816988, 241817493-241817498
472D2HGDH20.812260536398472941566242674640-242674645, 242674749, 242674814, 242689590-242689627, 242689657-242689672, 242695310-242695362, 242695370-242695377, 242695410-242695429, 242707135-242707141, 242707157-242707215, 242707261-242707286, 242707300-242707351, 242707362, 242707379-242707384
473AVP200.515151515151522404953063276-3063296, 3063325-3063365, 3063388-3063409, 3063415-3063444, 3063623-3063648, 3063668-3063697, 3063702, 3063732, 3063741-3063801, 3063818-3063824
474PANK2200.963806187974316217133869992, 3870076-3870118, 3870226-3870230, 3870233-3870235, 3870243-3870245, 3870249, 3870279, 3870289-3870293
475PRNP200.9960629921259837624680210-4680212
476JAG1200.998906207273724365710654164-10654167
477SNTA1200.88142292490119180151831998098, 32000157-32000163, 32000221, 32031144, 32031151, 32031156-32031189, 32031206, 32031258-32031283, 32031310-32031317, 32031327-32031426
478GDF5200.999335989375831150634022387
479SAMHD1200.9829877724614632188135545392, 35545395-35545401, 35547767-35547787, 35547884-35547886
480HNF4A200.997894736842113142543052777-43052779
481ADA200.9377289377289468109243252898-43252902, 43252915, 43254218, 43254290-43254292, 43255199, 43255207-43255215, 43255220, 43257761-43257789, 43257796-43257810, 43264868, 43280226-43280227
482CTSA200.9933199732798910149744520238-44520247
483CD40200.98920863309353983444757598-44757606
484SALL4200.9943074003795118316250408283, 50408342-50408357, 50418846
485GNAS200.941734417344174373857415177-57415190, 57415265-57415269, 57415313-57415319, 57415686-57415692, 57415732, 57415859, 57415862-57415865, 57415896-57415899
486GNAS200.9749518304431678311457428504-57428506, 57429184-57429186, 57429191-57429221, 57429433-57429434, 57429504, 57429507, 57429645-57429647, 57429655, 57429659-57429661, 57429691, 57429695, 57429732-57429735, 57429743, 57429747-57429756, 57429759-57429764, 57429973, 57430073-57430078
487COL9A3200.52506082725061976205561448417-61448494, 61448919-61448987, 61449870-61449883, 61449900-61449905, 61450574-61450583, 61450614, 61450644-61450645, 61451283-61451314, 61451330-61451334, 61452533-61452568, 61452859-61452868, 61453109-61453112, 61453134-61453162, 61453471-61453516, 61453943-61453948, 61453964-61453984, 61455797-61455803, 61455823-61455853, 61456320-61456373, 61457169-61457195, 61457205-61457218, 61457556-61457599, 61457609, 61458119-61458165, 61458616-61458622, 61459275-61459326, 61460125-61460145, 61460275, 61460303-61460306, 61460323-61460325, 61460831-61460851, 61460980-61461007, 61461026-61461032, 61461118-61461169, 61461712-61461765, 61461869-61461916, 61463521-61463541, 61464385-61464397, 61464404-61464416, 61467539, 61467867-61467884, 61468547-61468556, 61468571, 61471903-61471909
488CHRNA4200.066878980891721758188461978090-61978215, 61981005-61981440, 61981453-61981813, 61981829-61981908, 61981930-61981987, 61981993-61982009, 61982022-61982075, 61982085, 61982092, 61982102-61982198, 61982219-61982250, 61982256-61982258, 61982271-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
489KCNQ2200.305460099274531819261962037997-62038290, 62038302-62038327, 62038347-62038540, 62038570-62038645, 62038686-62038701, 62038721-62038728, 62039780, 62039791-62039808, 62039839-62039882, 62044836-62044881, 62044889-62044895, 62045441-62045452, 62046268-62046352, 62046378-62046398, 62046409-62046423, 62046429, 62046446-62046451, 62046479, 62051002-62051025, 62055530-62055541, 62059723-62059728, 62059734-62059773, 62059777, 62065197, 62065239-62065255, 62069978-62069985, 62069997-62070020, 62070062, 62070951-62070978, 62070998-62071041, 62071057-62071061, 62073759-62073884, 62076012-62076049, 62076070-62076187, 62076600-62076717, 62078100-62078114, 62078118-62078124, 62078135-62078141, 62078150-62078161, 62103521-62103816
490SOX182001155115562679519-62680315, 62680512-62680869
491APP210.999567661046261231327542938
492BACH1210.998190863862514221130715123-30715126
493IFNGR2210.9260355029585875101434775850-34775920, 34793836-34793839
494RCAN1210.99341238471673575935987211-35987215
495TMPRSS3210.9758241758241833136543792884-43792885, 43795840-43795857, 43796651, 43796660, 43805526-43805536
496CBS210.9909420289855115165644476913-44476915, 44478975-44478979, 44479058-44479064
497AIRE210.0989010989010991476163845705890-45706021, 45706449-45706484, 45706494-45706559, 45706583-45706614, 45706867, 45706872-45706873, 45706884-45706907, 45706919-45706930, 45706942-45706977, 45706993-45707016, 45707400-45707474, 45708228-45708341, 45709540-45709547, 45709559-45709561, 45709568, 45709589-45709685, 45709871-45709951, 45710978-45711093, 45712185-45712187, 45712202-45712263, 45712271-45712284, 45712876-45713058, 45713672-45713738, 45713745-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610
498ITGB2210.80562770562771449231046306743-46306775, 46306797-46306801, 46306807-46306817, 46308608-46308731, 46308754-46308810, 46309191-46309213, 46309318-46309360, 46309388-46309410, 46309939-46309963, 46310034-46310038, 46310089-46310092, 46311725, 46311759-46311765, 46311779, 46311797-46311802, 46311813-46311843, 46311874, 46311881-46311911, 46313448, 46313451-46313454, 46330223-46330235
499COL18A1210.356885090218423386526546875472-46875473, 46875476-46875501, 46875536-46875557, 46875564, 46875604-46875635, 46875670, 46875687, 46875694, 46875710, 46875735-46875742, 46875748-46875754, 46875768-46875814, 46875827-46875862, 46875868-46875925, 46875941-46875948, 46875971-46875976, 46875981, 46876008-46876055, 46876099-46876143, 46876146-46876149, 46876189-46876217, 46876232-46876261, 46876285, 46876298-46876339, 46876352, 46876369-46876429, 46876442-46876470, 46876491-46876744, 46876769-46876795, 46888173-46888214, 46888221-46888276, 46888377, 46888388, 46888415, 46888418, 46888438, 46888455, 46888525, 46888538-46888542, 46888581-46888597, 46888607-46888652, 46893880-46893895, 46895434, 46895442, 46896265-46896272, 46896295-46896370, 46897345-46897349, 46897760-46897778, 46897801-46897826, 46899834, 46899863, 46899871-46899878, 46899984, 46900004-46900053, 46900411, 46900420-46900431, 46900637-46900638, 46900641-46900643, 46900652, 46900672, 46900688-46900721, 46900771-46900772, 46906775-46906820, 46906826-46906906, 46907364, 46907383-46907409, 46908332-46908347, 46908353-46908355, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929286-46929288, 46929300-46929305, 46929310-46929363, 46929376-46929378, 46929382, 46929392-46929405, 46929408-46929418, 46929427-46929515, 46929978-46930088, 46930092, 46930105-46930174, 46931025-46931091, 46931108-46931112, 46931120, 46932102-46932228, 46932253-46932280, 46932289-46932312
500COL6A1210.627146096533851151308747401765-47401861, 47402548-47402677, 47404183-47404211, 47404214, 47404236-47404259, 47404286-47404362, 47404366-47404375, 47406440-47406542, 47406570-47406595, 47406858-47406912, 47406923-47406925, 47406930-47406954, 47406970-47406986, 47407069-47407089, 47407413-47407427, 47407524-47407568, 47408998-47409051, 47409522-47409533, 47409557-47409566, 47409666-47409673, 47409681-47409692, 47410172-47410198, 47410292-47410336, 47410709-47410719, 47410893-47410950, 47411924-47411932, 47411946-47411950, 47412096-47412115, 47412307, 47412310-47412312, 47412662-47412663, 47412673-47412685, 47414090-47414136, 47417393-47417397, 47417614-47417615, 47417658-47417676, 47418047, 47418050, 47418077-47418085, 47418324, 47418332, 47418834-47418864, 47419073-47419091, 47419123-47419132, 47419574-47419577, 47419584-47419590, 47419597, 47421891, 47422311-47422315, 47423386-47423392, 47423507-47423516, 47423896-47423897
501COL6A2210.286928104575162182306047531391-47531421, 47531428-47531505, 47531893-47531913, 47531934-47531937, 47531947, 47531977, 47531983-47532003, 47532053-47532055, 47532084-47532088, 47532091-47532095, 47532110-47532112, 47532174-47532214, 47532226, 47532234-47532259, 47532263-47532264, 47532277-47532290, 47532317-47532321, 47532349, 47532352-47532359, 47532423, 47532718-47532729, 47533953-47533964, 47533970, 47535786-47535824, 47535838-47535839, 47535923-47535939, 47535950, 47536291-47536304, 47536312-47536317, 47536570-47536591, 47536684-47536721, 47537314-47537329, 47537347-47537367, 47537788-47537833, 47538529-47538590, 47538944-47539033, 47539702-47539764, 47540429-47540489, 47540975-47540978, 47540990-47541037, 47541470-47541526, 47541532, 47542022-47542072, 47542410-47542445, 47542789-47542851, 47544565-47544616, 47544799-47544834, 47545180-47545204, 47545216-47545222, 47545379-47545398, 47545409, 47545423, 47545428, 47545450, 47545460-47545461, 47545464-47545470, 47545473-47545479, 47545508-47545531, 47545699-47545730, 47545737-47545784, 47545800-47545828, 47545854-47545940, 47545946-47546031, 47546038-47546073, 47546082-47546084, 47546108-47546151, 47546417-47546418, 47546428-47546452, 47551868-47552141, 47552158-47552341, 47552357-47552362, 47552365, 47552381-47552466
502COL6A2210.09356725146198831034247552183-47552341, 47552357-47552362, 47552365, 47552381-47552524
503FTCD2101626162647556901-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
504PCNT210.99051043851763951001147773103, 47786733, 47786739, 47786765-47786766, 47801675, 47836712-47836726, 47841970-47841972, 47847536-47847538, 47847563, 47847640-47847644, 47848309-47848317, 47848345-47848363, 47848396-47848410, 47848458-47848463, 47848488-47848495, 47848498-47848499, 47848502, 47851830, 47855986
505PRODH220.425402107598451036180318900688-18900729, 18900744-18900745, 18900749-18900763, 18900773-18900782, 18900789-18900852, 18900868-18900875, 18900977, 18900988, 18901000-18901039, 18904403-18904410, 18904414, 18904481-18904501, 18905842, 18905848-18905864, 18905882, 18905890-18905899, 18905910, 18905934, 18905964, 18905977-18905978, 18906968-18907002, 18907016-18907062, 18907277-18907279, 18907293, 18908855-18908936, 18909902-18909904, 18910331-18910380, 18910390-18910409, 18910421-18910424, 18910628-18910669, 18910679-18910692, 18912564-18912615, 18912627-18912675, 18912685, 18912696-18912713, 18913201-18913235, 18918503, 18918517-18918641, 18918664-18918689, 18918701-18918707, 18923528-18923627, 18923644-18923665, 18923676-18923686, 18923697, 18923711-18923717, 18923729, 18923736-18923742, 18923745, 18923777-18923800
506GP1BB220.05152979066022558962119711093-19711102, 19711377-19711511, 19711518-19711832, 19711854-19711954, 19711960-19711987
507TBX1220.40591397849462884148819747167-19747200, 19748428-19748709, 19748720, 19748739-19748740, 19748771-19748803, 19750773, 19752605, 19752636, 19753285-19753334, 19753336-19753348, 19753425-19753525, 19753912-19754075, 19754091, 19754098, 19754102-19754116, 19754137-19754163, 19754184-19754221, 19754228, 19754245-19754362
508SMARCB1220.9827288428324720115824175776-24175777, 24175825-24175842
509HPS4220.996685606060617211226859913-26859914, 26859924-26859928
510CHEK2220.94321408290744100176129083959-29083965, 29085162-29085198, 29126408-29126409, 29126442-29126494, 29130669
511NF2220.996085011185687178830035185, 30069391, 30074309-30074312, 30077435
512TIMP3220.943396226415093663633197996-33198002, 33198017, 33198028-33198055
513LARGE220.99647732276538227133777905-33777912
514MYH9220.9911609722930552588336688090-36688104, 36688117, 36689457, 36696920-36696923, 36696997, 36697079-36697080, 36697689-36697700, 36698661, 36698703-36698704, 36698706, 36700047, 36700100-36700101, 36701993, 36712686-36712693
515TRIOBP220.92998027613412497709838109217-38109220, 38111827-38111834, 38119742-38119770, 38119883-38119921, 38120030-38120068, 38120150-38120185, 38120480-38120506, 38120839-38120840, 38120851, 38120866, 38121609, 38122004-38122026, 38122039-38122043, 38122195-38122218, 38122247-38122270, 38122428-38122452, 38122476-38122510, 38129316, 38129386-38129419, 38130526, 38130570-38130591, 38130909-38130951, 38131031-38131032, 38131037, 38131166-38131173, 38131231-38131233, 38131414, 38131436-38131437, 38136910-38136916, 38147798, 38147835, 38150986-38150988, 38151192-38151197, 38153839-38153842, 38161714-38161729, 38161766-38161771, 38165152-38165163
516SOX10220.9871520342612418140138379541-38379547, 38379695-38379703, 38379745, 38379754
517PLA2G622048948938508274-38508312, 38508511-38508584, 38509494-38509869
518PLA2G6220.539033457249071116242138508168-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511627, 38511633-38511688, 38512082-38512218, 38516766-38516795, 38516816-38516916, 38519102-38519132, 38519138-38519265, 38522378-38522386, 38522418-38522456, 38524372-38524411, 38525461-38525463, 38525562-38525569, 38528900-38528934, 38528954-38528971
519TNFRSF13C220.2810810810810839955542321375-42321412, 42321480-42321484, 42322105-42322135, 42322141-42322335, 42322642-42322653, 42322660-42322777
520CYB5R3220.952538631346584390643026902-43026907, 43027384-43027391, 43027449-43027456, 43045301-43045321
521ATXN10220.9908963585434213142846067956, 46068017-46068028
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704DOCK890.99349206349206416300312086-312087, 396785-396820, 399190-399191, 399201
705VLDLR90.982456140350884626222622193-2622231, 2622241-2622247
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711TMC190.999561979851071228375315438
712VPS13A90.999895013123361952579980418
713ROR290.99788135593226283294495422-94495423, 94495662, 94712214-94712215, 94712226
714SPTLC190.99859353023912142294809970-94809971
715FANCC90.999403697078121167797897695
716FOXE190.92245989304813871122100616691-100616737, 100616778-100616780, 100617084-100617117, 100617127-100617129
717TGFBR190.96097883597884591512101867512-101867526, 101867534-101867577
718ALG290.9984012789768221251101980508-101980509
719INVS90.9993746091307123198102988352, 102988476
720MUSK90.9984674329501942610113547812-113547815
721ALAD90.9879154078549812993116151340-116151350, 116152954
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724LMX1B90.96514745308311391119129376829-129376867
725ENG90.98634294385432271977130581915, 130586628-130586629, 130587163-130587167, 130588017, 130588100, 130616593-130616603, 130616615-130616620
726GLE190.97615641392465502097131267092-131267141
727DOLK90.9981447124304331617131708027, 131709029, 131709228
728TOR1A90.992992992992997999132586326-132586328, 132586333-132586336
729POMT190.98530762167126322178134397504-134397522, 134397576-134397586, 134398325, 134398328
730SETX90.99639034105054298034135139874-135139886, 135218113-135218116, 135218120, 135221767-135221777
731TTF190.998160412067752718135251417-135251421
732TSC190.99570815450644153495135771988-135771990, 135772842-135772843, 135782123-135782132
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734SURF190.85492801771872131903136220627-136220647, 136221771-136221774, 136223124-136223175, 136223276-136223329
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737SARDH90.844033369604644302757136529011-136529016, 136529024-136529027, 136531865-136531911, 136531933-136531947, 136531960-136531961, 136531972-136531977, 136535706-136535748, 136535763-136535783, 136535803-136535813, 136535819-136535874, 136536666-136536702, 136536708, 136536721-136536785, 136536793, 136536811-136536819, 136555513, 136555575-136555584, 136555642-136555648, 136559380-136559386, 136559409-136559416, 136559420, 136559460, 136559463, 136559475-136559493, 136561367, 136568106-136568110, 136568113, 136570088, 136573412-136573414, 136577741-136577765, 136578163-136578169, 136582466, 136582470, 136582480-136582484, 136584068
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739LHX390.727874276261373291209139089193, 139089272-139089304, 139089315-139089334, 139089350, 139089532, 139089538-139089541, 139090548-139090562, 139090603-139090622, 139090643-139090658, 139090768, 139090781-139090828, 139090839-139090905, 139091564-139091567, 139091570, 139091577, 139091583, 139091675-139091691, 139092518, 139092522-139092532, 139094806-139094869, 139094884-139094885
740INPP5E90.1317829457364316801935139324127-139324130, 139324203-139324233, 139324739-139324759, 139324787, 139324792, 139324797, 139324850-139324865, 139325454-139325521, 139325539-139325569, 139326276-139326437, 139326931-139326962, 139326982-139327038, 139327408-139327527, 139327607-139327731, 139328489-139328586, 139329192-139329315, 139333060-139333836, 139333861-139333871
741NOTCH190.1032863849765368767668139390523-139390708, 139390729-139390749, 139390776-139391078, 139391097-139391121, 139391127-139391173, 139391188, 139391192-139391198, 139391220-139391370, 139391382-139391594, 139391615-139392010, 139393356-139393448, 139393564-139393569, 139393591-139393633, 139393652-139393678, 139393700-139393711, 139395004-139395138, 139395150-139395153, 139395159-139395274, 139395291-139395299, 139396231-139396365, 139396453-139396540, 139396724-139396789, 139396829-139396940, 139397634-139397720, 139397743-139397782, 139399125-139399239, 139399257-139399283, 139399301-139399327, 139399342, 139399352-139399556, 139399762-139399794, 139399813-139399815, 139399826-139399886, 139399906-139400333, 139400979-139401035, 139401048-139401091, 139401168-139401172, 139401183-139401243, 139401267-139401353, 139401362-139401375, 139401381-139401423, 139401757-139401792, 139401829-139401889, 139402435-139402443, 139402456-139402458, 139402477-139402522, 139402546-139402550, 139402558-139402591, 139402684-139402776, 139402789-139402790, 139402813-139402837, 139403322-139403523, 139404185-139404214, 139404225-139404227, 139404254-139404291, 139404304, 139404316-139404324, 139404335, 139404342-139404387, 139404391, 139404403-139404404, 139405114-139405257, 139405604-139405707, 139407473-139407586, 139407844-139407867, 139407882-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438548, 139440178-139440238
742AGPAT290.34408602150538549837139568204-139568241, 139568269-139568271, 139568315-139568369, 139568372, 139569187-139569243, 139569258-139569259, 139571037-139571039, 139571053-139571056, 139571071-139571072, 139571100-139571122, 139571413-139571423, 139571437-139571491, 139571512-139571520, 139571528, 139571548-139571588, 139571875-139571898, 139571903, 139571928-139571964, 139581628-139581809
743SLC34A390.517222222222228691800140126532, 140127051, 140127065-140127075, 140127140-140127150, 140127254, 140127314-140127329, 140127335-140127369, 140127667-140127668, 140127678-140127686, 140127706, 140127718-140127726, 140127729-140127734, 140127737, 140127750-140127752, 140127768-140127774, 140127794-140127816, 140127825-140127832, 140127843-140127846, 140127849, 140127852, 140128085-140128127, 140128146-140128174, 140128315-140128376, 140128380-140128383, 140128561-140128668, 140128675-140128721, 140128868-140128882, 140128888, 140128891-140128892, 140128916-140128922, 140128958-140128973, 140129082-140129121, 140129131-140129162, 140130404-140130442, 140130444-140130446, 140130449-140130453, 140130467-140130475, 140130485-140130490, 140130502-140130519, 140130535-140130613, 140130642-140130644, 140130665-140130696, 140130710-140130743, 140130771-140130819, 140130834-140130868
744EHMT190.782396715422128483897140513481-140513501, 140605419-140605431, 140605442-140605444, 140605469-140605477, 140611078-140611634, 140622844, 140638409-140638419, 140638487-140638531, 140671135-140671144, 140705913-140705914, 140708889-140708897, 140708941-140708947, 140712563-140712569, 140728801-140728812, 140728844-140728870, 140728900, 140728905-140728925, 140728946-140728971, 140729281-140729306, 140729331-140729369, 140729401
745SHOXX0.5358361774744408879591633-591909, 595375-595412, 595441-595495, 595518-595554, 601793
746CSF2RAX0.3478927203065185113051401597-1401672, 1404671-1404729, 1404749-1404753, 1404765-1404807, 1404813, 1407436, 1407444-1407465, 1407507-1407509, 1407515-1407517, 1407652-1407654, 1407662, 1407682-1407697, 1407703-1407711, 1407723-1407781, 1409230-1409246, 1409254-1409272, 1409298-1409320, 1409378-1409402, 1413221-1413320, 1413329-1413340, 1413344-1413352, 1414320-1414327, 1414347-1414349, 1419384-1419519, 1422154-1422245, 1422816-1422903, 1424390-1424392, 1424408, 1428341, 1428357-1428362, 1428365-1428371
747ARSEX0.99943502824859117702852951
748TRAPPC2X0.966903073286051442313734123-13734132, 13734716-13734719
749ARXX0.9733570159857945168925031646-25031672, 25031777-25031779, 25031892-25031906
750RPGRX0.646429603931771223345938144817-38144829, 38144858, 38144900-38144922, 38144952-38144956, 38144991, 38144995-38145032, 38145076-38145082, 38145098-38145147, 38145164-38145631, 38145648-38145749, 38145786-38145832, 38145835-38145836, 38145849-38145908, 38145918-38145966, 38145990-38146014, 38146077-38146092, 38146107-38146152, 38146169-38146185, 38146188, 38146220, 38146247-38146253, 38146276-38146289, 38146335-38146350, 38146366-38146406, 38146431-38146498, 38147116-38147132, 38147162-38147163, 38147187-38147259, 38150212-38150216, 38150646-38150653
751BCORX0.998671222475327526839932019-39932025
752NYXX0.9688796680497945144641332936-41332950, 41333106-41333112, 41333155-41333169, 41333396-41333399, 41333428-41333431
753FOXP3X0.9652777777777845129649110486, 49110496-49110508, 49111950-49111960, 49111963-49111965, 49112199-49112203, 49113459-49113461, 49114887, 49114890-49114897
754SMC1AX0.9970286331712611370253436020-53436030
755FGD1X0.9986139986144288654521779-54521782
756ARX0.9782844733984860276366765159-66765215, 66766357-66766359
757MED12X0.999540863177233653470361098-70361100
758TAF1X0.9941921858500533568270586191-70586220, 70586328-70586330
759SLC16A2X0.999457111834961184273641569
760ATP7AX0.998445480790587450377258570-77258574, 77258635-77258636
761PCDH19X0.999092558983673330699663560-99663562
762XIAPX0.99129852744311131494123020327-123020339
763SOX3X0.96122296793438521341139585954-139585957, 139586147-139586148, 139586159-139586160, 139586239-139586254, 139586696-139586707, 139586984-139586990, 139587017-139587024, 139587037
764FAM58AX0.995918367346943735152864519-152864521
765SLC6A8X0.783018867924534141908152954030-152954211, 152954223-152954291, 152956867-152956873, 152957459-152957476, 152957517-152957520, 152957555, 152957558, 152958626, 152958629, 152959368-152959374, 152959465-152959472, 152959602-152959607, 152959649-152959655, 152959696-152959702, 152959822-152959858, 152959901, 152960230, 152960250-152960264, 152960529-152960563, 152960664-152960669
766ABCD1X0.874888293118862802238152990780-152990783, 152990792-152990808, 152990842-152990853, 152990889-152990903, 152990930-152990934, 152990971-152990997, 152991059-152991065, 152991107-152991117, 152991251-152991254, 152991281-152991284, 152991290, 152991302, 152991305-152991309, 152991439-152991440, 152991531-152991548, 153001566-153001569, 153001572-153001574, 153001578, 153001583, 153001592-153001595, 153001799-153001825, 153002611, 153002614-153002619, 153005625-153005631, 153005635, 153005641-153005644, 153006028-153006031, 153006134-153006144, 153008675-153008678, 153008759, 153008788, 153008943-153008987, 153009017, 153009027, 153009030, 153009137-153009155
767MECP2X0.9979959919839731497153363074-153363075, 153363080
768OPN1MWX0.9936073059360771095153455595-153455601
769OPN1MWX0.9936073059360771095153492713-153492719
770FLNAX0.921324269889226257944153577739-153577745, 153577928-153577933, 153578043, 153580275, 153580615, 153580618-153580621, 153580624-153580625, 153580635-153580638, 153581000-153581034, 153581233-153581274, 153581719-153581757, 153581782-153581803, 153581947-153581957, 153582844, 153582847, 153583338-153583346, 153585921-153585923, 153586598-153586601, 153586604-153586633, 153586666-153586686, 153587368-153587383, 153587483-153587495, 153587685, 153587688-153587692, 153587702-153587709, 153587907-153587930, 153588163-153588176, 153588420-153588422, 153588425, 153588443, 153588446-153588464, 153588476-153588485, 153588607-153588610, 153588623-153588627, 153588686-153588690, 153588857-153588878, 153588910-153588916, 153589707-153589711, 153590384-153590412, 153590938-153590941, 153591037-153591047, 153592932-153592936, 153593229-153593231, 153594463, 153594678-153594684, 153594838, 153595113-153595124, 153595785-153595792, 153596031-153596043, 153596072-153596076, 153596455-153596458, 153599241-153599268, 153599341-153599370, 153599382-153599383, 153599512-153599566
771EMDX0.9620915032679729765153607901-153607910, 153608068-153608071, 153608074, 153608154, 153608346-153608348, 153608655, 153608658, 153609377-153609383, 153609504
772TAZX0.9746514575411920789153640232-153640236, 153640272-153640283, 153640463-153640465
773G6PDX0.98717948717949211638153761160-153761171, 153762572-153762575, 153774279-153774283
774F8X0.99815759637188137056154158454-154158459, 154182311-154182317
775USP9YY0.9986958789775710766814898632-14898641
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3ITPA-P32Thomozygous0.061Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
3MYO1A-G662Ehet unknown0.026Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
2.5RP9-D170Ghet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
2.5SDHD-G12Shet unknown0.008Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
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
2CYP2C9-R144Chet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
2SEMA4A-R713Qhet unknown0.037Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests
2SP110-M579Ihet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HBB-H117Yhet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.602 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2HBB-G70Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R3638Qhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5BLMH-I443Vhomozygous0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5AKAP10-I646Vhomozygous0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-R249Hhomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5PRF1-A91Vhet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125ATP6V0A4-M580Thet unknown0.098Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TSPAN16-S233Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
1PTCHD3-C407Ghomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
1PTCHD3-S309Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A832Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1APOE-R176Chet unknown0.068Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1ERCC2-K751Qhomozygous0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGFB1-T263Ihet unknown0.021Dominant
protective
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGFB1-P10Lhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-I493Thomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1AHI1-R830Whet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-V442Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-R265Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VCAN-K349Ehet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-G428Dhomozygous0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BDP1-D38Ehomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BDP1-R757Chomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BDP1-I1264Mhomozygous0.775Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BDP1-V1347Mhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BDP1-Q1676Ehomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
1BDP1-I2013Lhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-G6ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TGIF1-Y344Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGIF1-D384Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TSEN54-H113Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TSEN54-P483Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-V17Mhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-D25Ghet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A222Thet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL11A2-P1316Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCE-P445Shet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FANCE-Q501Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHM-S89ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DGKK-D1111Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-A442Ghet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-A69Ghet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TJP2-D482Ehomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TJP2-M668Ihomozygous0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1SCN9A-W1150Rhomozygous0.878Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCN9A-P610Thomozygous0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1RNASEL-D541Ehet unknown0.475Unknown
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-D2222Ghet unknown0.045Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-N817Thet unknown0.046Unknown
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
1F5-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCB-G335Ehomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TUBAL3-R250Whomozygous0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP4B1-S323Ghomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-Q1169Rhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RP1-T373Ihet unknown0.012Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests
1RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.75DYX1C1-E417*het unknown0.201Unknown
pathogenic
Low clinical importance,
uncertain
One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.
0.75DYX1C1-E191Ghet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.249 (possibly damaging)
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ATXN7-P892Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNJ12-I100Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-E239Khet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-R261Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.837 (possibly damaging)
0.5KCNJ12-I262Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-E289Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T290Mhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-S343Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.041 (benign)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5GALNT5-T179Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.028 (benign)
0.5GALNT5-P892Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CCDC144B-G709Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NEB-I6534Vhomozygous0.422Unknown
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-W3348Chomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGB6-V438Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ITGB6-P132Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K4087Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A4025Thet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-V3898Mhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T3115Rhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2529Ehet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T2520LEREKAERERLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2275Rhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-R1951Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.269 (possibly damaging)
0.5HYDIN-V1717Mhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5NEURL4-R1406Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-T1660Ihomozygous0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5LRP2-C4381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PDE8A-L55Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WHAMM-H736Phet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5TTN-V25148Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-F21160Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P9631Lhet unknown0.004Unknown
not reviewed
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-I1544Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5MYO9A-P1476Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYO9A-G1193Ehomozygous0.923Unknown
not reviewed
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
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PHKB-Y770Chet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.479 (possibly damaging), Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
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-S906Thet unknown0.012Unknown
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
0.5TTL-A133Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5OXER1-L407Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5OXER1-M40Ihet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.931 (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
0.5RASGRP4-E620Khet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5RASGRP4-I18Thet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13C-D304Ehet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5UNC13C-G609Shomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13C-S942Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5UNC13C-V2196Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-H1235Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP4A-V265Ahomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP4A-P240Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5QPCTL-T364Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5WDR8-I331Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5ZNF331-C85Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHA4-S20Yhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5BCAT2-P215Rhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5HSD17B14-R130Whet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCG8-Y54Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ZNF563-R353*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MPHOSPH10-T30Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MPHOSPH10-L425Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5APLF-S224Thet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-L336Fhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-R510Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ITGB4-R515Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF471-G406Dhet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF471-P430Rhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAB11FIP4-E501Khet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD300LG-R82Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CD300LG-T228Ahet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CEP68-G74Shomozygous0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEP68-L397Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.928 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC3A1-D338Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5FSHR-S680Nhomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NDUFS7-P23Lhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-M1Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-K307Nhet unknown0.045Unknown
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
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUBA3C-V75Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP19A1-T201Mhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5PTF1A-L79Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SVIL-P1648Lhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5SVIL-P1235Ahomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5SVIL-V422Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDNF-W154Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTR-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
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
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTBD16-H439Phet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTBD16-Q472Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging)
0.5ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OR51B5-P160Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OR51B5-I102Thet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.908 (probably damaging)
0.5OR51B5-C95Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5OR51B5-G5Shet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATHL1-R122Chet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ZFYVE27-V82Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE27-G138Vhomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-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
0.5BMPR1A-P2Thomozygous0.393Unknown
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-S550Chet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.5CYP2C8-K399Rhet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP2C8-I264Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.951 (probably damaging)
0.5CYP2C8-R139Khet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5FGFBP3-D226Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5GPATCH2-M474Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5USH2A-M3868Vhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihomozygous0.203Unknown
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-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GJB3-V200Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RSPO1-K162Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5DEM1-L151Phet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GJB4-C169Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5CCDC28B-R25Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-LE1031RKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-E1037Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5RHD-M169Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RHD-M170Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RHD-I172Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RHD-G263Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.021 (benign)
0.5RHD-K267Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RHD-V306Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RHD-Y311Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RHD-I342Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RHD-M379Thomozygous0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RHD-E398Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPB41-V214Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5GBP1-S213Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GBP1-I78Vhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5NPHS2-R229Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), 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-Q2620Hhet unknown0.051Unknown
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
0.5CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO2-D36Ghet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-S195Lhomozygous0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGR3A-F212Vhomozygous0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D1484Ehet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAB25-E20Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF215-F301Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ZNF215-V323Lhomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SSFA2-P836Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging)
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT5-G543Shomozygous0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-S528Ghomozygous0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDSP2-L214Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CTDSP2-R205Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CTDSP2-L203Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CTDSP2-V146Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CTDSP2-K142Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACADS-G209Shomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5RBM19-L794Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RBM19-Q602Ehomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RBM19-K259Rhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RBM19-V234Mhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OLFM4-R214*het unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHGA-G382Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CHGA-R399Whet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-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
0.5TSHR-E727Dhomozygous0.920Unknown
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
0.5NR_028064-T138TRAHThet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-T138TRAHThet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-R260Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-YS255SChet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRASP-L91Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.688 (possibly damaging)
0.5BIN2-N529Dhomozygous0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BIN2-T385Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BIN2-A70Ghet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
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
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT1A-A275Thet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5F2-T165Mhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ABCC8-V1572Ihet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5RAG1-H249Rhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-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
0.5ALG8-I439Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATM-P1054Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-D1853Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-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-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5PFKM-R100Qhomozygous0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5KDELC2-P144Lhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DLAT-E19Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-Q209Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-T789Ahomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MICA-A47Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5MICA-C329Rhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-P330Lhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA1L-E602Khomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP21A2-R103Khomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-K3015Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCHCR1-R506Qhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCHCR1-W78*het unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS2-P1177Shet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ADAMTS2-R827Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.876 (probably damaging)
0.5ADAMTS2-R241Hhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BTNL2-S360Ghet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-K196Ehet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-D118Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T217Ihet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKD1-R1299Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKD1-D739Vhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKD1-S504Fhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5AKD1-S493Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5LAMA4-G1117Shomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-Y498Hhomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-A283Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-R154Whet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5LAMA2-R619Hhomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-V1138Mhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A1496Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE1-T8687Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5IYD-N108Shet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RARS2-V235Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5YIPF3-A5Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-H3160Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NIPAL4-R213Ghomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I4450Vhomozygous0.528Unknown
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-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAD1-G114Dhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5ITGA2-E534Khomozygous0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTRR-K377Rhomozygous0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTRR-H622Yhomozygous0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UFSP2-K103Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT8-P226Lhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5UGT8-I368Mhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEIL3-P117Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-P443Lhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPINK5-D386Nhomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-E825Dhomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5SH3TC2-A468Shomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CMYA5-Y64Chet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-K166Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.683 (possibly damaging)
0.5CMYA5-D190Ghet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5CMYA5-G349Dhet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-G591Dhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-F594Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CMYA5-S651Rhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-V1006Ahet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.074 (benign)
0.5CMYA5-F1038Lhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.707 (possibly damaging)
0.5CMYA5-A1295Vhomozygous0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-I1309Vhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-A1333Vhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-A1567Ehet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CMYA5-S1599Ahet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.831 (possibly damaging)
0.5CMYA5-I1713Nhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.819 (possibly damaging)
0.5CMYA5-I1721Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-A1875Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.143 (benign)
0.5CMYA5-D1917Ghet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-S1920Ghet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-V2262Lhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CMYA5-G2324Shet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5CMYA5-T2693Ihet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-R2708Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-K2906Nhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-H3358Qhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-K3583Ehet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5WDR36-I264Vhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR36-D548Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR27-V525Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WDR27-L133Phomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IKBKAP-I830Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-V829Lhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEX10-P922Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEX10-Q920Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TEX10-H918Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HSD17B3-G289Shet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VPS13B-V2559Ahet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WISP1-A205Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLEC-EL653DPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-H601Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF27-N1036Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5KIF27-R300Qhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KIF27-I213Vhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
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
0.5CIZ1-R847Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-H2921Rhomozygous0.021Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
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
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5HTR2C-C23Shomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5USP20-D359Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP20-V444Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5USP20-M690Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SETX-I2587Vhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.690Unknown
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
0.5TTF1-R401Qhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests
0.5EHMT1-I1187Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EHMT1-A1294Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WBSCR28-I14Nhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WBSCR28-W78Rhet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5WBSCR28-G137Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihomozygous0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknown0.375Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5MACC1-R804Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5MACC1-P50Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.566 (possibly damaging)
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
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-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZKSCAN1-P201Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5RELN-S630Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.65 (possibly damaging), Testable gene in GeneTests
0.5HR-Q528Rhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-E506Ghet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HR-G337Dhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-T13Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRKDC-L1243Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRKDC-M333Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TOX-N122Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5LPL-S474*het unknown0.084Unknown
protective
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5NAT2-I114Thomozygous0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMB4-N866Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), 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-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRDM15-S1481Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRDM15-T1376Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-N1385Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-T1720Nhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A2960Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UMODL1-V173Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5UMODL1-N274Dhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.784 (possibly damaging)
0.5UMODL1-M559Thomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UMODL1-D644Ehet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UMODL1-I767Thomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-T800Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UMODL1-T826Phomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-E1243Khet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UMODL1-D1336Nhet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UBASH3A-S18Ghomozygous0.626Unknown
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)
0.5FERMT1-A534Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-V241Ahet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MST1-R653Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MST1-R651*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MST1-V575LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MST1-Y184HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MST1-T159Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MST1-R108Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MST1-R107Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MST1-T104Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-P740Ahet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GTF2E1-P366Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SIGLEC1-A974Vhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5SIGLEC1-H919Phet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC1-R464Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SIGLEC1-K239Rhet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SIGLEC1-V221Mhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5CHGB-D145Nhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CHGB-R232Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5CHGB-T243Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHGB-R500Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYLK-L496Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-P443Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYLK-V261Ahet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5MYLK-P147Shet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPN2-V536Mhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.5CPN2-A305Thomozygous0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GTSF1L-L56Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OTOR-M1Thet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.946 (probably damaging)
0.5E2F1-G200Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EVC-Q74Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-F440Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL7A1-R2835Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL7A1-T498Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5UNC5C-A841Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UNC5C-M721Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BCS1L-D210Nhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDC42EP1-R97Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CDC42EP1-TTANPPA248Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5APOL6-N173Khet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MTTP-I128Thet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-H297Qhomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-D384Ahet unknown0.079Recessive
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.015 (benign), Testable gene in GeneTests
0.5MTTP-G661Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-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
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-D344Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HACL1-I151Fhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-S2191Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-Q2659Hhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PCNT-R3245Shet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.5ATIC-T116Shomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5TLR1-S602Ihomozygous0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR1-H305Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.318 (possibly damaging)
0.5TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPHN3-T659Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5PRODH-A367Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
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-SR26AShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL17RA-A367Vhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL17RA-P562Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5KIT-M541Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.375HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.375HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.375HMCN1-G4546Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375STXBP2-A433Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GAA-HP295PShet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLD1-R165Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FKTN-R56Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.375SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.375SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.375SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.375SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SYNE2-S2802Ghet unknown0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.375SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.375SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SYNE2-Q6747Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ATXN3-G306QQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHDC1-A935Thomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.25AHDC1-T34Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MED15-G399Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MED15-M408Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HIVEP3-T2338Ahomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HIVEP3-H575Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HIVEP3-V535Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIGLEC5-P499Ahomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.926 (probably damaging)
0.25SIGLEC5-A277Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LIPA-G23Rhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPIB-A104Phet unknown0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25SPIB-D252Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SPIB-L255Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SRRM5-C437Rhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SRRM5-N540Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SRRM5-S639Rhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SRRM5-D694Nhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-H1300Rhet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TRIOBP-W1377Rhet unknown0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ABCA13-P506Lhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCA13-I767Shet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCA13-N2033Dhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCA13-A2178Ehomozygous0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCA13-R2674Whomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCA13-W2950*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ABCA13-N4277Dhet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCA13-Q4302Rhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCA13-K4446EhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-R1566Chet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25NRAP-L1531Phet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.25NRAP-I1183Vhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-S490Lhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.25NRAP-Q360Rhet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-Y249Chet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25NRAP-V208Ahet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADRB1-S49Ghet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
0.25HRNR-R63*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZC3H11A-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZC3H11A-S805*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP2D6-T486Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LMNA-L15Phet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-M174Thet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MKKS-G532Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FAM83H-K475Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM83H-E252Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM83H-Q201Hhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP11B2-K173Rhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-V671Ghet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S2574Nhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-D2672Hhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-V257Mhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCA4-S2255Ihet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25MERTK-V870Ihet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-T49Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NM_001080826-G1222Shomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001080826-A1172Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_001080826-S576Chomozygous0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-C4Yhet unknown0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25OTOF-R82Chet unknown0.365Unknown
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
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LIN37-V16Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LIN37-K17Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF43-P686Rhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.777 (possibly damaging)
0.25RNF43-L418Mhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPAP1-Q825Ehomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPAP1-R582Ghet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.25RPAP1-E506Khet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.906 (probably damaging)
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLN5-K368Rhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCF20-S722Ghet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCF20-M405Vhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.25TCF20-S16Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FGFR4-P136Lhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KPNB1-E8Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KPNB1-K9Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GK-G551Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GK-D470Nhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-D679Shifthet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Frameshift, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-D679Shifthet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Frameshift, Testable gene in GeneTests with associated GeneReview
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25COX10-T62Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADH1B-H48Rhet unknown0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD11-A971Vhomozygous0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD11-E735Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25NM_022097-V59Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_022097-Q152*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25C17orf57-V312Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-Y546*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NPEPPS-G322Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25NIPBL-N674Shet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25SCAPER-N868Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SCAPER-F398Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCAPER-E326Ghet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRT10-G565GGYGGGSSSGGhet 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
0.25SGCG-N287Shet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TIRAP-S180Lhet unknown0.115Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF599-P394Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF599-E392Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.25AIM1-E1196Ahet unknown0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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)
0.25ATG2A-S819Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATG2A-P656Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATG2A-A404Vhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IQCE-A546Vhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IQCE-T596Ahet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IQCE-A604Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IQCE-R635Khet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IQCE-L666Vhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SYTL3-P346Shomozygous0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SYTL3-F492Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SYTL3-L519Qhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25FAM55B-N351Ihet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-N227Shet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAG6-S619PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BAG6-T391Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-A499Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIM15-I29Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SH2B3-V426Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (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
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S408Ahet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25AK304151-S34Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-F47Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUL7-Q813Rhet unknown0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25CCDC66-Q383Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC66-E592Qhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.25CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCDC66-S606SPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCDC66-W774Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TUBA1B-D218Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TUBA1B-I171Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1B-I171Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1B-M154Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0FLCN-H429Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0CLEC7A-Y238*het unknown0.063Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0SIAE-M89Vhet unknown0.040Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0HPS1-M325Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MBL2-R52Chet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,728,293,096 bases (95.5% of callable positions, 88.6% of total positions)

Coding region coverage: 31,306,728 bases (94.1% of all genes, 95.1% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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