hu4A6650 - GET-Evidence variant report

Variant report for hu4A6650

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1DOK7-S45LHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00558552This variant was seen as a compound heterozygote (with either P376PfsX30 or P469H) in two individuals with congenital myasthenic syndromes (out of a screen of 200). Other mutations in this gene are associated with the syndrome, but there are insufficient controls to establish this variant in particular as significant.1
2APC-E1317QModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.00883228This rare variant has been hypothesized to increase risk of colon cancer. Later studies have contradicted this, finding no significant enrichment and concluding the variant does not increase risk.1
3SLC26A8-R87QModerateUncertainUncertain pathogenic

Dominant, Heterozygous
Reported by ClinVar to cause spermatogenic failure and male infertility (https://www.ncbi.nlm.nih.gov/clinvar/variation/50909/). In ClinVar this variant is reported as "pathogenic" (causing this condition) by a single source, OMIM, which cites Dirami et al 2013 (https://www.ncbi.nlm.nih.gov/pubmed/23582645). Dirami et al found this variant heterozygous in one of 146 patients screened with "moderate asthenozoospermia". The authors also report molecular evidence that this variant disrupts coorporation between this gene product and the CFTR receptor (and their hypothesis is based on the consequences of CFTR variants, which can cause male infertility). This variant is moderately rare: according to ExAC it is carried by roughly 1 in 1400 individuals (http://exac.broadinstitute.org/variant/5-176048219-G-T). The statistical significance of this report may be weak or absent. Although the authors reported weak statistical significance for enrichment relative to controls (p=0.0329), a replication of their chi-square calculation yields p=0.066, and a two-tailed Fisher's Exact test produces p=0.18.1
4SPG7-A510VModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00362521Reported by several contributors to ClinVar as causing spastic paraplegia in a recessive manner. The variant is very common, and for homozygous individuals it's possible that penetrance is low and/or the disease is mild and undiagnosed.1
5PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
6CFTR-S1235RModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00529838Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.1
7BTD-D444HLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0298383This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.1
8FCGR2B-I232TLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.132664A study in an Asian population associates this variant with increased susceptibility to anti-glomerular basement membrane antibody disease (anti-GBM), an autoimmune disease that causes bleeding, lung, and kidney disease. Even for carriers of this variation, anti-GBM is quite rare -- this variant only increases absolute risk for the disease by 0.1-0.2%. A much weaker finding seems to correlate homozygosity for the variant with increased risk for systemic lupus erythematosus (SLE); if true, the amount of increased risk due to the variant is unclear.1
9PRF1-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
10MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
11rs5186LowLikelyLikely 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
12SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
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
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
14DYX1C1-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
15TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
16WFS1-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
17BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
18rs1544410LowUncertainUncertain 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
19FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
20CFB-R32QModerateLikelyLikely protective

Dominant, Heterozygous
0.117188This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.1
21PRNP-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
22NPC1-H215RLowLikelyLikely protective

Complex/Other, Homozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
23KCNJ11-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
24MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
25NEFL-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
26GUCY2D-A52SLowUncertainUncertain benign

Recessive, Homozygous
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
27ENPP1-R774CLowUncertainUncertain benign

Unknown, Heterozygous
0.0258412Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect.1
28RNASEH2B-I309ShiftLowUncertainUncertain benign

Unknown, Heterozygous
0.0234375This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign.1
29XPC-L16VLowUncertainUncertain benign

Unknown, Heterozygous
0.00466531Reported as a nonpathogenic polymorphism.1
30COL7A1-P1277LLowUncertainUncertain benign

Unknown, Heterozygous
0.0407139Polymorphism, presumed benign.1
31SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
32PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
33PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
34NOTCH3-H1133QLowUncertainUncertain benign

Unknown, Heterozygous
0.0131995Probably benign.1
35HR-T1022ALowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0969511Probably benign. One study implicated it in causing alopecia universalis, but a later report noted the variant has an allele frequency inconsistent with the rarity of that disease.1
36CBLC-H405YLowUncertainUncertain benign

Unknown, Heterozygous
0.0374605Probably benign.1
37PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
38RP1-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
39THBD-A473VLowUncertainUncertain benign

Unknown, Heterozygous
0.140387While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well.1
40TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
41TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
42TAS2R38-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
43APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
44TYR-S192YLowUncertainUncertain benign

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

Exome coverage: 31933699 / 33282720 = 95.95%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.5487129358097127706138955553-955753, 957584-957585, 957611, 957621-957632, 957635-957637, 957669-957724, 957760-957788, 957799, 957813-957842, 970657-970666, 970679-970704, 976046-976145, 976160-976187, 976208-976260, 976567-976695, 976701-976771, 976858-976878, 976880, 976913-976920, 976985-977024, 977394, 977427-977433, 977478-977488, 977493-977497, 978620-978623, 978635-978651, 978688, 978709-978712, 978716-978717, 978720, 978740-978808, 978836-978837, 978918-978980, 979023-979070, 979088-979112, 979264-979278, 979288, 979345-979400, 979489-979493, 979509, 979544-979552, 979604-979605, 979714-979750, 979774-979777, 979780, 980573, 980576-980578, 980584-980587, 980600-980613, 980617-980619, 980622-980625, 980776-980786, 980792-980794, 980797, 981127, 981248-981256, 981344, 981540-981554, 981793-981794, 981824-981872, 981884-981886, 981894-981897, 981926-981951, 981971-981989, 982020-982061, 982201-982239, 982254-982324, 982713-982758, 982804-982813, 982832, 982981-982999, 983063, 983170, 983176-983207, 983252-983275, 983392-983397, 983406-983445, 983474-983491, 983502-983504, 983560-983677, 983687-983745, 984247-984384, 984620-984767, 984776, 984779, 984811, 984821, 984831, 984957, 985035, 985039-985049, 985055-985064, 985069-985075, 985080-985081, 985107-985121, 985165, 985168, 985291, 985323, 985326-985333, 985337-985343, 985382-985417, 985613-985643, 985680, 985697-985698, 985703-985706, 985837-985856, 985898-985923, 986117-986157, 986168-986215, 986633-986733, 986833-986913, 986941-986950, 986973-987001, 987122, 987168-987179, 989206, 989218-989219, 989222-989224, 989231, 989352-989357, 989879, 989896-989903, 990229-990253, 990302-990304, 990312-990315
2GABRD10.6909492273730742013591950863-1950930, 1956445-1956477, 1956813-1956814, 1956998-1957000, 1957005, 1957037, 1957044, 1957108-1957147, 1957159, 1959040-1959041, 1960565-1960620, 1960646-1960674, 1960684, 1960687, 1960995-1961016, 1961050-1961055, 1961077, 1961094-1961122, 1961182-1961201, 1961433-1961487, 1961543-1961558, 1961639-1961652, 1961672, 1961681-1961682, 1961706-1961720
3PEX1010.77370030581042229812337924-2337962, 2340007-2340032, 2340037-2340038, 2340139-2340181, 2343830-2343941
4NPHP410.9640270964727915442816038330-6038473, 6046221, 6046226-6046229, 6046266-6046270
5ESPN10.6873294346978680225656485016-6485309, 6488286-6488307, 6488317-6488337, 6488371-6488386, 6488413-6488437, 6488466-6488467, 6500386-6500392, 6500411-6500437, 6500463-6500464, 6500478-6500480, 6500702-6500800, 6500830-6500868, 6501029-6501065, 6501097-6501103, 6505726-6505738, 6505776-6505798, 6505851-6505854, 6505888-6505920, 6505931-6505937, 6508701-6508702, 6508831, 6508854, 6508885, 6508922-6508928, 6508980, 6508985, 6509072-6509106, 6511703-6511709, 6511907-6511942, 6512106-6512133, 6517289
6PLEKHG510.9677014738162410331896529183-6529185, 6530913, 6531072-6531084, 6531136, 6531629, 6533407-6533409, 6534512-6534517, 6534616-6534647, 6556553-6556567, 6556606-6556629, 6557380-6557383
7PEX1410.90917107583774103113410535034-10535050, 10684436-10684453, 10689685-10689698, 10689963-10689990, 10690003-10690028
8TARDBP10.993574297188768124511082356-11082362, 11082530
9MASP210.9529354682193197206111094885-11094886, 11102975-11102981, 11103439-11103450, 11103547-11103583, 11105465-11105466, 11105500-11105506, 11105567-11105571, 11106666, 11106754-11106772, 11107260-11107264
10MTHFR10.997970573313044197111853987-11853990
11CLCNKA10.90552325581395195206416353238-16353244, 16353805-16353806, 16354391-16354397, 16355652-16355673, 16356245-16356247, 16356251-16356255, 16356956-16356971, 16356978-16356997, 16357033-16357060, 16357092, 16357113-16357114, 16357164-16357169, 16358222-16358224, 16358298-16358309, 16358698-16358700, 16358724-16358737, 16358773-16358775, 16358938-16358954, 16360106-16360115, 16360140-16360153
12CLCNKB10.9544573643410994206416378723-16378749, 16378758-16378781, 16378789-16378791, 16378802-16378804, 16378809-16378817, 16378831-16378832, 16378844-16378857, 16378894, 16378900-16378903, 16380238-16380243, 16380248
13ATP13A210.9915325994919630354317313000-17313002, 17313602-17313605, 17313611-17313629, 17322521-17322524
14ALDH4A110.9923167848699813169219204055-19204067
15PINK110.9891179839633419174620960042, 20960110-20960126, 20960230
16HSPG210.99385245901639811317622150134-22150137, 22150160, 22155558, 22211638-22211650, 22263649-22263710
17WNT410.9308712121212173105622469343-22469415
18FUCA110.9314775160599696140124194428-24194430, 24194442-24194443, 24194449-24194450, 24194475-24194493, 24194513-24194535, 24194573-24194576, 24194625, 24194632-24194636, 24194641, 24194672-24194674, 24194725-24194755, 24194758, 24194776
19LDLRAP110.976267529665592292725870190, 25870200-25870206, 25870220-25870221, 25870235-25870246
20SEPN110.89028776978417183166826126722-26126904
21KCNQ410.9832375478927235208841249770-41249778, 41249788, 41249807-41249823, 41249840-41249841, 41249851-41249856
22LEPRE110.984622342831334221143232252-43232273, 43232602, 43232607-43232617
23SLC2A110.9912102772143313147943424306-43424318
24POMGNT110.999495713565311198346661554
25DHCR2410.99935525467441155155352601
26PCSK910.9995189995191207955521750
27COL11A110.99596848085028225457103364231-103364252
28GSTM110.53272450532725307657110230496-110230531, 110230799, 110230853-110230855, 110230861, 110231295-110231319, 110231688-110231733, 110231847-110231886, 110231893-110231947, 110232908-110232917, 110232978, 110232981-110232988, 110233076-110233127, 110233135-110233163
29NOTCH210.99217907227616587416120539668, 120539778-120539784, 120539834-120539840, 120548022-120548058, 120572572, 120572608-120572610, 120611960, 120611964
30FLG10.9292630887904286212186152276715-152276729, 152277434-152277473, 152277693-152277714, 152278431-152278437, 152278665-152278686, 152279403-152279409, 152279566-152279567, 152279974, 152279991, 152280000-152280002, 152280029-152280040, 152280161-152280189, 152280207-152280243, 152280350, 152280353-152280354, 152280450, 152280606, 152280824, 152280960-152280966, 152281145-152281146, 152281209-152281249, 152281319-152281356, 152281386-152281421, 152281472-152281494, 152281578-152281592, 152281673-152281695, 152281813, 152281821, 152281922-152281925, 152281976-152281994, 152282013-152282039, 152282111, 152282235, 152282548-152282578, 152282666, 152282732, 152282792, 152282822, 152283001, 152283086, 152283170-152283196, 152283236, 152283243, 152283522-152283549, 152283891, 152283897, 152284041-152284044, 152284066-152284081, 152284167-152284195, 152284236-152284247, 152284424, 152284497, 152284540-152284541, 152284623, 152284707, 152284851-152284857, 152284958-152284992, 152285053-152285055, 152285064, 152285067, 152285071, 152285188, 152285211-152285247, 152285280-152285316, 152285327, 152285339, 152285422-152285428, 152285472, 152285480, 152285598, 152285604, 152285621, 152285785-152285793, 152285841-152285863, 152286019-152286031, 152286081-152286129, 152286360, 152286390, 152286844-152286848, 152286857-152286864, 152286885, 152287834-152287837, 152287873, 152287876-152287879
31PKLR10.9976811594202941725155269991-155269994
32LMNA10.9989974937343421995156108288-156108289
33SEMA4A10.99562554680665102286156131145-156131154
34NTRK110.9970723546633272391156830748-156830754
35F510.9988014981273486675169510337-169510343, 169510475
36DARS210.9974200206398351938173794446-173794448, 173794493-173794494
37CDC7310.9993734335839611596193091331
38CFHR510.9982456140350931710196967367-196967369
39PSEN210.99109131403118121347227071593-227071604
40ADCK310.9958847736625581944227153097-227153104
41GJC210.507575757575766501320228345619-228345644, 228345657-228345694, 228345716-228345751, 228345788-228345811, 228345823-228345865, 228345897-228345945, 228345970-228345974, 228346008-228346030, 228346041-228346059, 228346094-228346125, 228346134-228346152, 228346183-228346202, 228346209-228346264, 228346274-228346358, 228346387-228346490, 228346529-228346562, 228346589-228346597, 228346601, 228346609, 228346614-228346626, 228346636-228346640, 228346648-228346650, 228346723-228346724, 228346741-228346742, 228346750
42ACTA110.9991181657848311134229568058
43RYR210.99973161567364414904237821245-237821248
44NET1100.99832495812395317915454762-5454764
45GATA3100.99850187265918213358100740-8100741
46OPTN100.997116493656295173413151239-13151243
47PTF1A100.8530901722391114598723481540-23481541, 23481625-23481653, 23481694-23481700, 23481717-23481756, 23481764-23481770, 23481785-23481788, 23481796, 23481841-23481842, 23481853, 23481869-23481907, 23481911, 23481955, 23481958-23481959, 23481961-23481969
48MASTL100.9943117178612115263727469981-27469995
49RET100.9826606875934258334543572707-43572764
50CDH23100.9978122513922221005673439234-73439238, 73442211-73442218, 73447460-73447463, 73461955, 73464770-73464772, 73464777
51VCL100.999118942731283340575758117-75758119
52LDB3100.9816849816849840218488466316, 88466422-88466442, 88469699, 88476084-88476092, 88476146-88476148, 88476165, 88476188-88476189, 88476471, 88476496
53GLUD1100.9481216457960687167788854394, 88854415-88854463, 88854473-88854509
54HPS1100.97958214624881432106100177361-100177402, 100177412
55HPS6100.99312714776632162328103825434, 103825443-103825446, 103825449-103825455, 103825696-103825699
56SUFU100.9951890034364371455104263992-104263993, 104264084-104264088
57COL17A1100.9986648865153564494105816922-105816927
58BAG3100.9976851851851941728121411199, 121436084, 121436334, 121436337
59HTRA1100.807345807345812781443124221169-124221177, 124221194-124221233, 124221246-124221265, 124221276, 124221290-124221421, 124221431-124221435, 124221452, 124221467-124221507, 124221578-124221604, 124221610-124221611
60UROS100.998746867167921798127477445
61HRAS110.9666666666666719570532703, 532711, 532721, 533796, 533801, 534229-534242
62TALDO1110.89743589743591041014747482-747491, 747499-747505, 747511, 747519-747521, 747543-747569, 747575-747578, 763344-763350, 763396-763426, 763448-763453, 763458-763462, 763466, 763484, 763868
63SLC25A22110.47427983539095511972791930-791951, 791986-791994, 792010-792068, 792142, 792147, 792152, 792181-792214, 792304-792310, 792331-792350, 792369-792387, 792394, 792414-792433, 792455-792458, 792553-792708, 792727, 792870-792902, 792909-792947, 792964-792988, 793573, 794478-794479, 794483-794496, 794501-794510, 794870-794901
64PNPLA2110.647524752475255341515819719-819905, 821731-821732, 821808, 821816, 821825-821828, 823527-823540, 823694-823696, 823729-823732, 823792-823799, 823807-823816, 823822-823855, 823998-824003, 824011-824030, 824034-824036, 824044-824046, 824059-824071, 824095, 824106-824123, 824329-824335, 824387-824417, 824420-824429, 824523-824528, 824540-824560, 824575-824607, 824636-824685, 824698, 824702, 824717, 824729-824738, 824745-824767, 824773, 824789-824794, 824860
65CTSD110.81840193704622512391774740, 1774775-1774776, 1775038-1775042, 1775107, 1775231-1775245, 1775279-1775285, 1775333-1775367, 1778588-1778607, 1778688-1778690, 1778775-1778779, 1780208-1780209, 1780239-1780249, 1780298-1780308, 1780841-1780863, 1782580-1782582, 1782636-1782653, 1785022-1785034, 1785040-1785089
66TNNI2110.88342440801457645491861635-1861653, 1861758-1861767, 1861827-1861861
67TNNT3110.231660231660235977771946329-1946336, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953723, 1954951-1954969, 1954983-1955059, 1955161-1955238, 1955562-1955584, 1955595, 1955614-1955660, 1955663-1955670, 1955776-1955831, 1955837-1955885, 1956059, 1956075-1956149, 1958193-1958233, 1959668-1959722
68IGF2110.717299578059072017112154217-2154227, 2154238-2154264, 2154305-2154328, 2154339-2154406, 2154761-2154767, 2154805-2154806, 2154809, 2154838-2154864, 2154893-2154895, 2156607, 2156626, 2156641-2156644, 2156647, 2161381, 2161409-2161424, 2161492-2161498
69TH110.6209523809523859715752185472-2185508, 2185528, 2185560-2185561, 2185573-2185580, 2185587-2185588, 2185618, 2186486-2186535, 2186563-2186567, 2186900-2186903, 2186906-2186910, 2186940-2186968, 2187232, 2187258-2187279, 2187710-2187779, 2187863-2187899, 2187911-2187923, 2187944-2187998, 2188117-2188177, 2188224-2188225, 2188230, 2188236-2188238, 2188690-2188704, 2189100-2189128, 2189153-2189163, 2189321-2189327, 2189735-2189742, 2190910-2190951, 2191010-2191036, 2191920-2191953, 2191986-2192000
70KCNQ1110.843919251600231720312466329-2466337, 2466344, 2466356-2466411, 2466426, 2466434-2466511, 2466526-2466582, 2466598-2466636, 2466642-2466714, 2593281, 2593331-2593332
71CDKN1C110.217665615141967449512905262-2905273, 2905319-2905323, 2905349-2905352, 2905363, 2905900-2906267, 2906273-2906323, 2906334-2906509, 2906519-2906560, 2906580-2906587, 2906611-2906657, 2906683-2906691, 2906699-2906719
72SMPD1110.976793248945154418966411932-6411975
73ABCC8110.999789296249471474617498274
74WT1110.9755469755469838155432456572, 32456585-32456593, 32456599, 32456603, 32456623, 32456628, 32456669-32456685, 32456711-32456712, 32456717-32456720, 32456734
75PEX16110.9894332372718511104145937373-45937383
76F2110.9850187265917628186946747444, 46747506, 46747550, 46747554-46747567, 46747635, 46749596-46749605
77TMEM216110.99242424242424226461165322-61165323
78SDHAF2110.99800399201597150161213526
79BEST1110.9846416382252627175861723261-61723286, 61727493
80SLC22A12110.90072202166065165166264359082-64359109, 64359264-64359269, 64359272, 64359286, 64360302-64360305, 64360310, 64360881, 64360884, 64360938, 64361122, 64361166-64361198, 64361215, 64367163-64367174, 64367188-64367191, 64367197, 64367236-64367281, 64367315, 64367319-64367339, 64367351
81PYGM110.9758797943851361252964521023-64521044, 64521385-64521416, 64521735-64521741
82MEN1110.9891774891774920184864572552, 64572602, 64573219, 64577442, 64577544, 64577550-64577561, 64577572-64577574
83SPTBN2110.99930294158655717366475247-66475251
84CABP4110.99033816425121882867223165-67223170, 67223243, 67225928
85AIP110.7119838872104728699367254574, 67256758-67256760, 67256771-67256781, 67256802-67256822, 67256871-67256883, 67257525-67257541, 67257595-67257608, 67257640-67257670, 67257806-67257859, 67257902-67257928, 67258276-67258327, 67258374-67258391, 67258441-67258464
86NDUFS8110.879936808846767663367799777-67799794, 67800663, 67800667-67800713, 67803943-67803944, 67804008-67804011, 67804056-67804059
87TCIRG1110.8455675892499385249367808739, 67808751, 67808823, 67808853-67808854, 67810167-67810177, 67810184-67810217, 67810265, 67810270-67810310, 67810427-67810433, 67810948, 67810961-67810964, 67811319, 67811324-67811325, 67811340-67811359, 67811366-67811367, 67811636-67811664, 67811799-67811805, 67812513-67812526, 67814900-67814908, 67815267-67815271, 67816454-67816464, 67816548-67816572, 67816575-67816577, 67816683, 67816712, 67816720-67816739, 67816752-67816761, 67817138-67817139, 67817145, 67817155-67817164, 67817169-67817243, 67817254, 67817529-67817533, 67817605-67817612, 67817621-67817625, 67817664, 67817716-67817717, 67817954-67817957, 67817987, 67818247, 67818277-67818281
88LRP5110.97916666666667101484868080183-68080273, 68201286, 68216443-68216451
89IGHMBP2110.9869215291750539298268671463-68671485, 68696756-68696762, 68703959-68703962, 68704345-68704348, 68704351
90MYO7A110.773616125150421505664876858895-76858899, 76858902-76858903, 76867797-76867799, 76867803, 76873204, 76873354-76873360, 76883796-76883797, 76883808-76883814, 76883822-76883830, 76883869-76883912, 76885802-76885834, 76885843-76885868, 76885875-76885953, 76886428-76886445, 76886476-76886497, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893542, 76893552-76893557, 76893572-76893645, 76894113-76894147, 76894159-76894186, 76894199-76894202, 76895686-76895688, 76895690, 76895696-76895760, 76900459-76900463, 76900466, 76900496, 76901065-76901074, 76901160, 76901184, 76901809-76901819, 76901831, 76903213, 76903283-76903285
91TRPC6110.9992846924177422796101359779-101359780
92DYNC2H1110.99976825028969312945102991529-102991531
93ATM110.9998909606367919171108098382
94APOA1110.995024875621894804116706798-116706801
95WNK1120.99118757868233637149862735-862749, 862848, 862877-862910, 862927-862931, 862989, 863194, 863259-863264
96CACNA1C120.998018594726411365612794934-2794940, 2800351-2800356
97VWF120.9856669035773512184426125328-6125344, 6127532-6127538, 6127655-6127661, 6128064-6128087, 6131926-6131932, 6131955-6131982, 6132003-6132033
98TPI1120.98533333333333117506976731-6976738, 6976758-6976760
99ATN1120.99972012314582135737047143
100KIF21A120.9969915764139615498639836753-39836767
101LRRK2120.999340717299585758440646800-40646804
102IRAK4120.994938539407097138344180249-44180255
103MLL2120.99753220175755411661449426854, 49426908-49426915, 49427262-49427276, 49427652, 49431291-49431293, 49431299-49431302, 49431824, 49431858-49431865
104TUBA1A120.99122807017544445649522213, 49522269, 49522287, 49522411
105KRT81120.9578392621870964151852682999-52683005, 52684031-52684066, 52685176-52685196
106KRT86120.9801505817932929146152696893-52696920, 52697952
107KRT6B120.9805309734513333169552844265, 52845598-52845604, 52845662-52845686
108KRT6C120.9746312684365843169552865925, 52867257-52867266, 52867321-52867345, 52867457-52867463
109KRT6A120.995870206489687169552886708-52886714
110CEP290120.9978494623655916744088472952-88472953, 88476825, 88481596, 88519083-88519093, 88534757
111MMAB120.998671978751661753110011256
112TRPV4120.99159021406728222616110224591, 110236533-110236534, 110246155, 110246160-110246167, 110246170-110246176, 110246190, 110252581, 110252584
113ATXN2120.868087265347545203942112036588-112036592, 112036599-112036845, 112036891-112036947, 112036956-112037035, 112037048-112037089, 112037127-112037151, 112037207-112037222, 112037262-112037308, 112037318
114PUS1120.90186915887851261284132414272-132414290, 132414308, 132414313, 132414459-132414485, 132414517-132414555, 132414566-132414578, 132414595-132414616, 132426066, 132426073, 132426077, 132426087
115SACS130.9999272197962211374023910657
116B3GALTL130.994655978623918149731774222-31774229
117FREM2130.9949526813880148951039261565, 39261628-39261639, 39261807-39261834, 39261912, 39261920-39261924, 39262057
118SLC25A15130.988962472406181090641381530-41381532, 41382658-41382664
119SUCLA2130.9920977011494311139248571065-48571075
120ZIC2130.844903064415262481599100634374-100634416, 100634518-100634524, 100634588-100634600, 100634720-100634725, 100634852-100634859, 100635008-100635013, 100637639, 100637694-100637727, 100637735-100637777, 100637789-100637864, 100637919-100637922, 100637930-100637936
121COL4A1130.9996007984031925010110959346, 110959356
122F7130.494382022471916751335113760156-113760201, 113765018, 113765037-113765078, 113765099-113765133, 113768214, 113769974-113770105, 113771080-113771085, 113771165-113771179, 113771845-113771875, 113771892, 113771900, 113772727-113772773, 113772784, 113772798-113772826, 113772835-113772858, 113772879, 113772886-113772906, 113772912, 113772936-113772945, 113772954-113772992, 113773000-113773010, 113773018-113773042, 113773050-113773071, 113773110, 113773138, 113773145-113773198, 113773239-113773246, 113773254-113773322
123F10130.94546693933197801467113777170-113777232, 113798280, 113798286, 113798348-113798351, 113803571, 113803574-113803583
124GRK1130.95094562647754831692114321856-114321862, 114321922-114321923, 114321969-114321972, 114322214-114322215, 114322240-114322244, 114324106-114324112, 114325876-114325908, 114325911-114325913, 114325955-114325971, 114426053-114426055
125PABPN1140.975027144408252392123790914, 23790953, 23790958-23790964, 23791016-23791029
126FOXG1140.82993197278912250147029236531, 29236544-29236545, 29236627-29236748, 29236754-29236755, 29236775, 29236778-29236796, 29236804, 29236807, 29236826-29236833, 29236836-29236855, 29236865-29236871, 29236882-29236909, 29236926-29236955, 29237060-29237067
127NKX2-1140.994195688225547120636988373-36988379
128C14orf104140.91447891805887215251450100666-50100686, 50100774-50100810, 50100822, 50100825-50100826, 50100875-50100890, 50100946-50100950, 50101008-50101019, 50101095, 50101127, 50101130-50101134, 50101172, 50101220-50101239, 50101261-50101264, 50101370, 50101395-50101399, 50101410-50101427, 50101453-50101480, 50101490, 50101559-50101590, 50101691, 50101703-50101705
129GCH1140.969455511288182375355369191-55369193, 55369281-55369300
130ZFYVE26140.99921259842526762068241771, 68242690-68242694
131VSX2140.993554327808477108674706382-74706388
132TGFB3140.993543179983868123976446997-76447004
133POMT2140.9800266311584645225377786862-77786870, 77786907-77786915, 77786971-77786976, 77786989-77787009
134ATXN3140.995395948434625108692559655, 92559659-92559662
135AMN140.09030837004405312391362103389026-103389068, 103390053-103390068, 103390082-103390121, 103390127-103390140, 103390163, 103390282-103390292, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395797, 103395810-103395835, 103395841, 103395844-103395847, 103395860-103395863, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
136INF2140.75289273750105167807, 105167865, 105167899, 105167937-105167949, 105167955-105167963, 105167975-105167985, 105168055-105168059, 105169442, 105169636-105169653, 105169714-105169725, 105169729, 105169736-105169739, 105169753-105169777, 105170253-105170255, 105170259-105170260, 105172390-105172403, 105172440-105172467, 105173284-105173312, 105173356-105173362, 105173697-105173699, 105173748-105173813, 105173817, 105173823, 105173827-105173831, 105173856-105174161, 105174174, 105174179-105174180, 105174194-105174226, 105174246-105174260, 105174263-105174278, 105174317-105174323, 105174802, 105174820-105174825, 105174829-105174838, 105174842, 105174866, 105174892-105174894, 105174912-105174924, 105176456-105176457, 105176465, 105176510-105176515, 105176523-105176525, 105177417-105177418, 105177466-105177469, 105177485-105177523, 105177966, 105178801-105178830, 105178885-105178886, 105179191, 105179194, 105179197, 105179203, 105179255-105179283, 105179544-105179545, 105179596, 105179603-105179605, 105179618-105179622, 105179637, 105179824-105179842, 105180636, 105180678-105180683, 105180750, 105180754, 105180806-105180812, 105180891-105180898, 105180907-105180944, 105180966-105180991, 105181051-105181052, 105181131-105181136, 105181142
137NIPA1150.8202020202020217899023086234-23086411
138CHST14150.9752431476569428113140763496-40763502, 40763511-40763517, 40763527-40763540
139STRC150.999436936936943532843910867-43910869
140STRC150.997948717948724195044009690-44009692, 44009701
141NR2E3150.993659420289867110472103902-72103908
142HCN4150.94490586932447199361273614891-73614895, 73660031-73660033, 73660045-73660049, 73660065, 73660069, 73660077, 73660080, 73660105-73660106, 73660109-73660123, 73660135, 73660140, 73660189-73660245, 73660284, 73660288, 73660298-73660302, 73660328-73660334, 73660359-73660378, 73660392-73660430, 73660451-73660472, 73660551-73660561
143PSTPIP1150.26778577138289916125177310489-77310535, 77310541-77310589, 77310798-77310836, 77310844-77310865, 77317625-77317628, 77317655-77317657, 77317842, 77317849, 77317857, 77317899-77317901, 77317905-77317934, 77320193-77320205, 77320896-77320929, 77320955-77320993, 77321902-77321915, 77322850-77322861, 77322883-77322922, 77323524-77323601, 77323618, 77324639-77324735, 77325203-77325257, 77325267-77325268, 77325279, 77325286-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
144RPS17150.9828431372549740882823387-82823393
145RPS17150.9828431372549740883207730-83207736
146POLG150.99919354838713372089876828-89876830
147MESP2150.998324958123952119490319877, 90320161
148BLM150.9880112834978851425491303448-91303452, 91304269-91304272, 91337397-91337408, 91337448-91337454, 91337510-91337514, 91337564-91337581
149IGF1R150.998050682261218410499192831, 99192891-99192897
150HBZ160.56643356643357186429202909, 202956-202963, 202997-202998, 203915-203930, 203956-203974, 203987, 203993, 204001, 204005-204036, 204059-204095, 204271-204310, 204319-204328, 204368-204385
151HBA2160.8135198135198180429222912-222937, 222956-222989, 223260-223265, 223272, 223291-223303
152GNPTG160.86819172113291219181401967-1402018, 1402106-1402145, 1402270-1402272, 1402275, 1402278-1402279, 1402285-1402307
153CLCN7160.6228287841191191224181496632-1496668, 1496683-1496697, 1496701-1496706, 1497007-1497087, 1497393-1497564, 1497659-1497684, 1497704-1497715, 1498365, 1498420-1498450, 1498483-1498485, 1498722-1498767, 1498967-1498993, 1499000-1499003, 1499277-1499313, 1499326-1499328, 1500501-1500502, 1500515-1500536, 1500607-1500667, 1501624-1501640, 1501648-1501673, 1501697-1501717, 1502782-1502791, 1502798-1502894, 1504453-1504466, 1505142-1505156, 1505213, 1505216-1505217, 1505230-1505233, 1505732-1505733, 1505769-1505771, 1506135-1506166, 1506202-1506207, 1507333-1507338, 1509115-1509130, 1510948-1510949, 1524836-1524843, 1524850-1524854, 1524910-1524936, 1524964-1524975
154IGFALS160.3416149068323127219321840601-1840636, 1840652-1840708, 1840721-1840727, 1840732-1840736, 1840739-1840746, 1840755-1840774, 1840808-1840826, 1840855-1840862, 1840885-1840894, 1840917, 1840938-1841153, 1841162, 1841166, 1841170-1841173, 1841178-1841190, 1841200-1841320, 1841347, 1841350-1841366, 1841376-1841390, 1841412-1841508, 1841523-1841595, 1841611-1841637, 1841658, 1841692-1841701, 1841716, 1841728, 1841744-1841775, 1841784-1841812, 1841833-1841852, 1841875, 1841880, 1841914-1841988, 1841994-1842019, 1842028-1842071, 1842091, 1842135, 1842169-1842206, 1842232-1842301, 1842347-1842362, 1842368-1842416, 1842429-1842516, 1843643-1843653
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274TYROBP190.99705014749263133936398434
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281ATP1A3190.998912452419794367842471050, 42471331, 42471357, 42480605
282ETHE1190.985620915032681176544031255-44031262, 44031290-44031292
283BCAM190.9607843137254974188745312382-45312386, 45312396-45312463, 45324061
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287DMPK190.9751322751322847189046281420-46281429, 46281861-46281870, 46283043, 46285526, 46285556, 46285572-46285595
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358COL9A3200.86082725060827286205561448417-61448494, 61448942-61448946, 61448958-61448978, 61450578-61450604, 61455833-61455853, 61456320-61456373, 61457177-61457193, 61457556-61457598, 61461897-61461915, 61468571
359CHRNA4200.234076433121021443188461978092-61978121, 61978132-61978168, 61978214-61978215, 61981005-61981013, 61981016-61981018, 61981021-61981110, 61981118-61981204, 61981210, 61981214, 61981231-61981262, 61981272-61981276, 61981284-61981301, 61981308-61981344, 61981347-61981351, 61981354, 61981371-61981380, 61981389-61981454, 61981461-61981488, 61981510-61981518, 61981530-61981735, 61981745-61981774, 61981791, 61981804, 61981807, 61981811, 61981834-61981837, 61981868-61981915, 61981936-61981956, 61981966-61982018, 61982028-61982029, 61982035, 61982057-61982131, 61982142, 61982148, 61982157-61982259, 61982291-61982330, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
360KCNQ2200.60328369606721039261962037997-62038029, 62038052-62038100, 62038127-62038166, 62038182-62038215, 62038246, 62038255, 62038272-62038277, 62038283-62038285, 62038332-62038364, 62038374-62038445, 62038470, 62038481-62038588, 62038609-62038616, 62038620, 62038707-62038728, 62046256-62046277, 62046318-62046329, 62059754-62059755, 62059781-62059788, 62070951-62070967, 62070976-62070979, 62071002, 62071020-62071026, 62071029-62071038, 62071053, 62073777, 62073805-62073818, 62073842, 62073849, 62073858, 62073861, 62076024, 62076031, 62076064-62076123, 62076153-62076187, 62076615, 62076619, 62076645-62076717, 62078100-62078103, 62078110-62078159, 62078189-62078190, 62103521-62103816
361SOX18200.2924115562679520, 62679530-62679546, 62679557-62679562, 62679573, 62679605, 62679618, 62679621-62679622, 62679626-62679639, 62679643-62679662, 62679666-62679667, 62679699-62679717, 62679725-62679785, 62679798-62679854, 62679860, 62679889, 62679895-62679903, 62679907, 62679914-62679916, 62679927-62679942, 62679950-62680216, 62680235-62680248, 62680264-62680315, 62680512-62680869
362APP210.999567661046261231327542938
363IFNGR2210.9280078895463573101434775850-34775922
364RCAN1210.913043478260876675935987177-35987189, 35987204-35987206, 35987248-35987296, 35987308
365CLDN14210.99861111111111172037833301
366TMPRSS3210.99706959706964136543796675, 43805530-43805532
367CBS210.99879227053142165644476928, 44485350
368AIRE210.354700854700851057163845705890-45706015, 45706440-45706445, 45706455-45706466, 45706481-45706482, 45706493-45706525, 45706582, 45706870, 45706875, 45706890, 45706933-45706985, 45707002-45707016, 45707403-45707415, 45707419, 45707426-45707427, 45707439-45707474, 45708249-45708298, 45708309, 45708323-45708326, 45709554-45709590, 45709617-45709680, 45709879-45709898, 45709900-45709908, 45709918-45709951, 45710995-45711046, 45711082-45711093, 45712185-45712191, 45712270-45712276, 45712283-45712284, 45712876-45712892, 45712906-45712926, 45712936-45712937, 45712949-45713023, 45713033-45713034, 45713039-45713058, 45713677-45713701, 45713721-45713771, 45713778-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717594, 45717607-45717610
369ITGB2210.91125541125541205231046308608-46308631, 46308643-46308684, 46308703-46308721, 46308748-46308765, 46308805-46308810, 46309271-46309279, 46309310-46309322, 46309349-46309366, 46310003-46310009, 46310050-46310058, 46310085, 46311735-46311744, 46311756, 46311761-46311769, 46311781-46311782, 46311813, 46311817, 46311891-46311902, 46326830-46326831, 46330687
370COL18A1210.667236467236471752526546875463-46875472, 46875558, 46875561, 46875564, 46875769-46875773, 46875781-46875785, 46875851-46875852, 46875857-46875858, 46875861-46875886, 46875915-46875921, 46875939-46875943, 46876031-46876040, 46876048, 46876138-46876139, 46876145-46876146, 46876168-46876179, 46876199-46876203, 46876220-46876229, 46876245-46876263, 46876265, 46876269, 46876276-46876279, 46876284-46876304, 46876306-46876319, 46876353-46876354, 46876408, 46876417-46876422, 46876477-46876482, 46876518-46876581, 46876607-46876627, 46876633-46876702, 46876712-46876753, 46876772-46876773, 46876783-46876790, 46888189-46888219, 46888226-46888233, 46888237, 46888247-46888254, 46888377-46888386, 46888423, 46888521-46888531, 46888534-46888543, 46888567-46888573, 46895390-46895395, 46896363, 46896368, 46900047-46900067, 46900691-46900707, 46906812-46906885, 46906906, 46907409, 46908355-46908358, 46909400-46909412, 46909424-46909426, 46909429-46909435, 46910189-46910260, 46910750-46910773, 46911139-46911221, 46911227, 46912456, 46912461, 46912475-46912478, 46912601-46912623, 46913077-46913082, 46913092-46913093, 46913097, 46913110, 46913117-46913135, 46913433-46913482, 46914459-46914481, 46914776-46914799, 46914809-46914829, 46915285-46915301, 46915305, 46915318, 46915321, 46915339-46915346, 46916414-46916432, 46916443, 46916458-46916466, 46916482, 46916968-46916981, 46917003-46917006, 46917513-46917527, 46917550-46917575, 46923925-46923935, 46924330-46924350, 46924360-46924443, 46924453-46924470, 46925048-46925073, 46925098-46925192, 46925272-46925327, 46925752-46925866, 46925872-46925880, 46927476-46927478, 46927480, 46927482-46927506, 46929300, 46929311, 46929318-46929320, 46929332-46929333, 46929362-46929363, 46929377, 46929461, 46929466-46929467, 46929489-46929515, 46929991-46929997, 46930000-46930013, 46930047, 46930056-46930068, 46930075, 46930105-46930123, 46931041-46931071, 46931074-46931075, 46931080-46931082, 46932128-46932141, 46932182, 46932186, 46932189-46932192, 46932198-46932207, 46932229, 46932233, 46932239-46932242, 46932247, 46932268-46932289
371COL6A1210.77518626498218694308747401765-47401861, 47402551-47402588, 47402601-47402677, 47404183-47404213, 47404221, 47404236-47404269, 47404275-47404323, 47404335-47404336, 47404374-47404383, 47406451-47406453, 47406479-47406495, 47406524-47406543, 47406573-47406599, 47406886-47406887, 47406925-47406935, 47406951-47406986, 47407069-47407077, 47407414-47407433, 47407524-47407568, 47409043, 47409522-47409551, 47409689-47409692, 47410172-47410188, 47410292-47410336, 47410687-47410708, 47410737-47410740, 47410921-47410922, 47410944-47410945, 47410955, 47418035-47418040, 47419067-47419082, 47419571-47419575, 47422133-47422138, 47423892-47423895
372COL6A2210.515032679738561484306047531392, 47531416, 47531429-47531459, 47531476-47531503, 47531893, 47531930-47531938, 47531987-47531994, 47531998-47532001, 47532012-47532014, 47532040-47532042, 47532051, 47532057-47532059, 47532088-47532090, 47532262, 47532299, 47532302-47532310, 47532316-47532319, 47532322-47532326, 47532390-47532396, 47532473, 47535815, 47536291-47536317, 47536565, 47536568-47536591, 47536684-47536700, 47536708-47536721, 47537314-47537367, 47537788-47537819, 47537833, 47537845-47537850, 47538528, 47538559-47538573, 47538944-47539026, 47539029-47539033, 47539702-47539764, 47540429-47540491, 47540975-47540991, 47541001-47541035, 47541485-47541532, 47542023, 47542025-47542026, 47542032-47542072, 47542410-47542422, 47542791, 47542809-47542851, 47544799-47544833, 47545180-47545205, 47545429-47545478, 47545699-47545704, 47545720-47545730, 47545736-47545790, 47545860-47545889, 47545913-47545973, 47545995, 47545999-47546010, 47546055-47546061, 47546100-47546101, 47546109-47546134, 47546430-47546434, 47551876-47551884, 47551895-47552038, 47552057-47552102, 47552108-47552150, 47552156-47552163, 47552172-47552224, 47552230-47552233, 47552242-47552287, 47552290, 47552298-47552299, 47552302-47552304, 47552322-47552354, 47552376-47552381, 47552389, 47552396, 47552406-47552422, 47552431, 47552434-47552437, 47552464-47552466
373COL6A2210.3654970760233921734247552183-47552224, 47552230-47552233, 47552242-47552287, 47552290, 47552298-47552299, 47552302-47552304, 47552322-47552354, 47552376-47552381, 47552389, 47552396, 47552406-47552422, 47552431, 47552434-47552437, 47552464-47552514, 47552520-47552524
374FTCD210.098400984009841466162647556902-47556940, 47556956, 47556968-47556987, 47557157, 47557172, 47557182-47557187, 47557200, 47557214, 47557236-47557243, 47557247-47557248, 47558432-47558560, 47558794-47558797, 47558830-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575414, 47575430-47575437
375PCNT210.99510538407751491001147744153-47744162, 47786600, 47818017, 47841898, 47848313, 47848355, 47848447-47848468, 47848495-47848504, 47850522-47850523
376PRODH220.86744315030505239180318900784-18900794, 18905879-18905902, 18905977, 18912578, 18912581, 18923528-18923612, 18923619-18923631, 18923635-18923662, 18923670-18923729, 18923745, 18923772-18923785
377GP1BB22062162119711093-19711102, 19711377-19711987
378TBX1220.54368279569892679148819747175-19747193, 19748428-19748711, 19753340, 19753425, 19753435-19753474, 19753480-19753519, 19753912-19753915, 19753919-19754012, 19754018-19754040, 19754060-19754125, 19754148-19754151, 19754156, 19754178-19754216, 19754233, 19754291-19754339, 19754349, 19754357-19754358, 19754363, 19754382-19754390
379SMARCB1220.997409326424873115824175858-24175860
380CHEK2220.9551391254968879176129083909, 29083947-29083966, 29085136-29085171, 29090027-29090040, 29091837-29091844
381NF2220.999440715883671178829999989
382MYH9220.999320074791774588336688096, 36688100, 36695075, 36698672
383TRIOBP220.95167652859961343709838119879-38119905, 38120029-38120068, 38120150-38120185, 38120326, 38121823, 38122003, 38122007-38122015, 38122411-38122417, 38122425-38122451, 38129332, 38129379, 38130435-38130475, 38130481-38130486, 38130490, 38130517, 38130526, 38130622-38130624, 38130657-38130683, 38130768-38130783, 38130859-38130866, 38130911-38130927, 38130941, 38130951-38130953, 38130957-38130959, 38131017-38131023, 38131081, 38131095, 38131171-38131175, 38131285, 38131402-38131424, 38136917-38136924, 38147779-38147783, 38153927-38153938, 38165167
384SOX10220.996431120628125140138379364-38379368
385PLA2G6220.2453987730061336948938508274-38508312, 38508511-38508584, 38509494-38509495, 38509529-38509533, 38509540-38509614, 38509638-38509669, 38509673, 38509687-38509777, 38509789-38509823, 38509827, 38509848-38509861
386PLA2G6220.73523337463858641242138508168-38508312, 38508511-38508584, 38509494-38509495, 38509529-38509533, 38509540-38509614, 38509638-38509661, 38511538-38511615, 38511621-38511688, 38512082-38512108, 38512119-38512156, 38512197-38512218, 38516862-38516867, 38516885-38516916, 38519110, 38519139, 38519181-38519198, 38519220-38519221, 38519229-38519250, 38524386
387TNFRSF13C220.5783783783783823455542322105-42322109, 42322121, 42322125-42322128, 42322165, 42322168-42322169, 42322182-42322185, 42322197, 42322209-42322335, 42322642-42322718, 42322755, 42322767-42322777
388CYB5R3220.976821192052982190643045301-43045321
389TRMU220.90047393364929126126646731685, 46731699-46731737, 46746291-46746294, 46749733, 46749752, 46751368-46751399, 46751471-46751473, 46751926-46751969, 46752903
390ALG12220.9904567143830914146750301491-50301492, 50303722-50303726, 50304157, 50304170, 50307353-50307354, 50307370-50307372
391MLC1220.85890652557319160113450502463-50502494, 50502505-50502547, 50502564-50502627, 50506906-50506908, 50506949, 50508967-50508969, 50512650, 50515919-50515931
392SCO2220.87890137328349780150962486-50962535, 50962574-50962616, 50962695, 50962828-50962830
393TYMP220.40027605244997869144950964199-50964301, 50964319-50964347, 50964430-50964473, 50964479-50964570, 50964675-50964890, 50965005-50965065, 50965072-50965099, 50965116, 50965120-50965166, 50965638-50965648, 50966048, 50966961, 50967569, 50967613-50967676, 50967708, 50967721-50967760, 50967766, 50967929-50967963, 50967986-50968011, 50968021-50968053, 50968105-50968138
394ARSA220.9908136482939614152451063816-51063829
395SHANK3220.6222349351641981524451113070-51113132, 51113476-51113544, 51113550-51113679, 51115092-51115121, 51117013-51117058, 51117066-51117107, 51117200-51117348, 51117462-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123039, 51123052-51123079, 51133234-51133236, 51133330-51133342, 51133382-51133418, 51135671-51135719, 51135951-51136143, 51137118-51137128, 51137137-51137156, 51143256-51143260, 51158696-51158729, 51158750-51158811, 51158835-51158874, 51158886, 51158909-51158935, 51158938-51158939, 51158948, 51158959-51158972, 51158975, 51158982, 51159026-51159041, 51159073, 51159099-51159102, 51159138-51159205, 51159218-51159225, 51159243-51159312, 51159338, 51159350-51159385, 51159428-51159441, 51159444-51159453, 51159456-51159462, 51159509-51159515, 51159652-51159666, 51160058, 51169155-51169156, 51169183-51169225, 51169263, 51169327-51169330, 51169391, 51169416-51169459, 51169503-51169550, 51169560-51169613, 51169628-51169673, 51169688-51169721
396FANCD230.9938858695652227441610091149-10091156, 10114941-10114947, 10140462-10140473
397VHL30.956386292834892864210183659, 10183673, 10183677, 10183684, 10183689-10183691, 10183702-10183711, 10183807-10183808, 10183854-10183862
398CRTAP30.999170812603651120633155819
399TMIE30.7298474945533812445946742860-46742891, 46742920-46742965, 46742976-46742979, 46742990-46742996, 46743006-46743035, 46743038-46743041, 46743070
400TMIE30.900212314225054747146742978-46742979, 46742990-46742996, 46743006-46743035, 46743038-46743041, 46743070, 46751074-46751076
401TREX130.9828828828828819111048507890-48507901, 48508032-48508034, 48508040-48508042, 48508315
402COL7A130.9945670628183448883548612867-48612881, 48613094-48613105, 48613177-48613181, 48625791-48625801, 48626846-48626848, 48627059-48627060
403SLC25A2030.961368653421633590648936123-48936141, 48936148-48936152, 48936192-48936202
404LAMB230.999444135630913539749162038-49162040
405GNAT130.9905033238366610105350231224, 50231550-50231553, 50232267-50232270, 50232274
406HYAL130.9426605504587275130850338127-50338128, 50338163, 50338483-50338486, 50338489-50338501, 50339558-50339579, 50339606-50339623, 50339845-50339851, 50339855, 50340305-50340311
407RFT130.999384993849941162653156428
408TKT30.9845085470085529187253289852-53289869, 53289902-53289908, 53289955-53289958
409FLNB30.9982071968241814780957994312-57994318, 57994436-57994442
410ATXN730.89922480620155286283863898275-63898558, 63898581-63898582
411PROK230.928205128205132839071834131-71834158
412ARL13B30.80963480963481245128793758770, 93758820-93758823, 93758827-93758831, 93761859-93762084, 93769693-93769701
413CPOX30.9802197802197827136598311876-98311882, 98312141-98312160
414IQCB130.9994435169727311797121526213
415NPHP330.98071625344353773993132438571-132438572, 132438618-132438649, 132441005-132441007, 132441037, 132441060-132441061, 132441064, 132441070-132441079, 132441081-132441083, 132441120-132441142
416FOXL230.97966401414677231131138664799, 138664873-138664886, 138665130, 138665372-138665378
417BCHE30.9961304588170371809165491170-165491176
418MCCC130.9995408631772312178182804524
419ALG330.96279422930904491317183966616-183966633, 183966641-183966671
420CLCN230.9996292176492412697184072379
421CLDN1630.997821350762532918190126189-190126190
422PDE6B40.875633528265113192565619543-619548, 647652, 647708-647718, 647749, 647764-647777, 647869-647882, 648627-648635, 648643, 649729-649761, 650034-650064, 650680-650720, 650736-650738, 650742, 650755, 650809, 651140-651177, 651206-651267, 651278-651283, 652741-652749, 652766, 652776-652777, 654261-654267, 657650-657659, 659054-659066, 659108-659109, 660395
423IDUA40.2252803261977615201962980873-981030, 981597-981737, 994408-994413, 994452, 994455, 994459-994466, 994474-994479, 994670-994674, 994705-994745, 995276-995279, 995294, 995322-995336, 995476-995524, 995532, 995537-995540, 995558-995600, 995607-995637, 995770-995827, 995847-995869, 995879-995888, 995903-995906, 995921-995949, 996057-996133, 996151-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997410, 997811-997847, 997858-997900, 998048-998061, 998084-998118, 998149-998162, 998165-998167
424FGFR340.6370004120313188124271795662-1795770, 1800981-1800991, 1800994-1801005, 1801031, 1801058-1801061, 1801074-1801085, 1801116-1801149, 1801155-1801180, 1801191-1801199, 1801202-1801203, 1801210-1801220, 1801222, 1801225-1801241, 1801248, 1801474-1801516, 1803094-1803119, 1803150-1803159, 1803243-1803247, 1803252-1803253, 1803348-1803398, 1803414-1803421, 1803444-1803465, 1803597-1803627, 1803692-1803697, 1803711-1803746, 1804713-1804731, 1804775, 1804782-1804788, 1804791, 1806066, 1806080-1806085, 1806092, 1806158-1806168, 1806172-1806177, 1806220-1806245, 1806589, 1806611, 1806624-1806647, 1806653, 1806657-1806658, 1806668-1806670, 1806684-1806690, 1807110-1807142, 1807286-1807287, 1807327, 1807338-1807340, 1807395, 1807477-1807479, 1807535-1807541, 1807553-1807596, 1807885, 1807894, 1808037-1808054, 1808408-1808410, 1808556-1808561, 1808587-1808614, 1808639-1808661, 1808844-1808846, 1808864-1808866, 1808893-1808985
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528RECQL480.1736972704714629973627145736814-145736908, 145736917-145736938, 145737064-145737172, 145737294-145737450, 145737527-145737597, 145737610-145737707, 145737775-145737944, 145738025-145738154, 145738230-145738521, 145738601-145738731, 145738741-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739491, 145739595-145739728, 145739742-145739746, 145739846-145739861, 145739904-145739909, 145740320-145740340, 145740347, 145740358-145740367, 145740374-145740379, 145740391-145740395, 145740422-145740456, 145740534-145740554, 145740591-145740626, 145740710-145740720, 145740735-145740781, 145740796, 145740824-145740825, 145740829, 145740837, 145741148-145741166, 145741182, 145741189-145741207, 145741375, 145741379-145741385, 145741410-145741450, 145741459-145741484, 145741499-145741505, 145741516-145741589, 145741606-145741674, 145741690, 145741699-145741702, 145741706, 145741726-145741740, 145741755-145741756, 145741765, 145741780-145741813, 145741824-145741847, 145741860-145741865, 145741870, 145741874, 145741879, 145741885, 145741888-145741938, 145741952-145742018, 145742027-145742097, 145742121-145742136, 145742146-145742148, 145742434-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168
529DOCK890.9993650793650846300429714-429716, 429719
530VLDLR90.972921434019837126222622190-2622242, 2622254-2622271
531KCNV290.99450549450549916382718960-2718967, 2718976
532GLIS390.99856784819191427934117938-4117941
533SLC1A190.99809523809524315754490762-4490764
534GLDC90.976167156382637330636645371-6645404, 6645443-6645481
535ROR290.9826977401129949283294495569-94495579, 94495686-94495688, 94495692-94495693, 94712185-94712188, 94712199-94712222, 94712234-94712237, 94712241
536PTCH190.9965469613259715434498270539-98270540, 98270592-98270604
537FOXE190.889483065953651241122100616298-100616303, 100616309-100616325, 100616398-100616399, 100616583, 100616686-100616688, 100616697-100616731, 100616768-100616785, 100616832-100616847, 100616892-100616899, 100616951, 100617135-100617151
538TGFBR190.98743386243386191512101867506-101867518, 101867538-101867540, 101867562-101867563, 101867569
539MUSK90.9996168582375512610113547938
540DFNB3190.9981644640234952724117267023-117267027
541NR5A190.913419913419911201386127245156-127245176, 127253502-127253504, 127262540, 127262544, 127262601-127262605, 127262624, 127262763-127262795, 127265379, 127265393-127265396, 127265576-127265602, 127265636-127265651, 127265654-127265660
542LMX1B90.94191242180518651119129376798-129376835, 129376842-129376867, 129377665
543ENG90.99291856348002141977130578250-130578256, 130587603-130587609
544DOLK90.96907854050711501617131709029-131709049, 131709346-131709349, 131709358-131709360, 131709372-131709374, 131709391, 131709405, 131709477-131709487, 131709515-131709519, 131709524
545TOR1A90.991991991991998999132586326-132586329, 132586334-132586337
546POMT190.9958677685950492178134394827, 134394840, 134397439-134397445
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548SURF190.88261351052049106903136223124-136223175, 136223276-136223329
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550DBH90.97357065803668491854136505024-136505026, 136516758-136516799, 136517382, 136522235-136522236, 136523528
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559SHOXX0.49146757679181447879591633-591909, 595353, 595360-595407, 595433, 595442-595561
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561KAL1X0.9995105237396120438700021
562SMSX0.9881925522252513110121958955-21958957, 21958960-21958969
563ARXX0.9674363528715255168925031536-25031567, 25031658-25031672, 25031768-25031769, 25031777-25031779, 25031888-25031890
564RPGRX0.86094246892165481345938145009-38145018, 38145138-38145142, 38145171-38145177, 38145235, 38145272-38145278, 38145292, 38145295, 38145304-38145305, 38145309, 38145320-38145330, 38145342, 38145357-38145426, 38145437-38145679, 38145690-38145750, 38145770-38145777, 38145799-38145824, 38145843, 38145846-38145851, 38145869-38145876, 38145916-38145919, 38145959-38145960, 38145996-38146000
565NYXX0.9654218533886650144641333156-41333168, 41333232, 41333393-41333417, 41333428-41333431, 41333509-41333515
566CACNA1FX0.998483316481299593449067099-49067107
567ARX0.993847267462917276366765159-66765172, 66766357-66766359
568TAF1X0.9929602252727940568270586192-70586226, 70586289-70586293
569ZIC3X0.9964387464387551404136648985-136648987, 136651140, 136651143
570SOX3X0.96420581655481481341139586172-139586181, 139586479-139586516
571FAM58AX0.9755102040816318735152864473-152864480, 152864483, 152864507, 152864514-152864521
572SLC6A8X0.946540880503141021908152954030-152954041, 152954068-152954079, 152954094, 152954105-152954162, 152954187-152954194, 152954198, 152954204-152954208, 152954214-152954217, 152954220
573ABCD1X0.9562109025916982238152990771-152990787, 152990800, 152990843-152990863, 152990869, 152990961-152990984, 153008944-153008946, 153008981-153008987, 153009132-153009155
574AVPR2X0.9919354838709791116153171381, 153171384, 153172050-153172055, 153172061
575MECP2X0.97261189044756411497153363061-153363094, 153363106-153363112
576OPN1LWX0.99086757990868101095153418510-153418519
577OPN1MWX0.9351598173516711095153453337-153453343, 153453443-153453449, 153455640-153455675, 153458979-153458999
578OPN1MWX0.9296803652968771095153490561-153490567, 153492758-153492793, 153496042, 153496097-153496129
579FLNAX0.977970795568981757944153577822, 153581424-153581427, 153581740-153581741, 153581755-153581756, 153582610-153582620, 153583021-153583027, 153583406-153583409, 153586571-153586574, 153587371-153587374, 153587615-153587633, 153587677-153587709, 153587750, 153587754-153587755, 153587758, 153587767-153587772, 153588124-153588129, 153588257-153588267, 153588481-153588487, 153588855-153588856, 153592412, 153592415, 153595768-153595772, 153596220-153596224, 153599356-153599361, 153599392-153599404, 153599534, 153599540, 153599550-153599564
580EMDX0.9738562091503320765153607855-153607859, 153608066-153608080
581GDI1X0.9992559523809511344153665622
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3APC-E1317Qhet unknown0.009Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2ARMS2-A69Shomozygous0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A4481Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2NPC1-I858Vhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
2NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NPC1-H215Rhomozygous0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SEMA4A-R713Qhet unknown0.037Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests
2PCSK9-V474Ihet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5PRF1-A91Vhet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5HNMT-T105Ihet unknown0.077Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.821 (possibly damaging)
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5BLMH-I443Vhomozygous0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CHRNA5-D398Nhomozygous0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5FCGR2B-I232Thet unknown0.133Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.125FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1.125FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCSK1-N221Dhet unknown0.036Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HSH2D-S101Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TMPRSS3-V53Ihet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1UNC13A-L1121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1UNC13A-A447Thomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1UNC13A-A53Shifthomozygous0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-G722Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-W458Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R452Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1A-P2056Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1A-G1104ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1BEST3-Y43Hhomozygous0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
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
1GLB1-S532Ghomozygous0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GLB1-C521Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1GLB1-P10Lhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
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
1KCP-S494Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLAC4-L104ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF781-T97Mhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
1DPYD-S534Nhet unknown0.016Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MSX1-A40GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC50-L121Fhomozygous0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
1CCDC50-R466WhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABO-P353Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABO-P155Lhomozygous0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HTT-G893Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-V1064Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SPG7-A510Vhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.976 (probably damaging), Testable gene in GeneTests with associated GeneReview
1BCAM-R77Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1BCAM-V196Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BCAM-T539Ahet unknown0.329Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-A191Thomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1AK300656-R11*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875CFTR-S1235Rhet unknown0.005Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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.
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625KRT14-R407Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G809Dhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.483Unknown
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
0.5ZNF19-R224Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZFP90-H114Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging)
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF276-W263Rhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.776 (possibly damaging)
0.5ZNF276-R351Whet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A4041Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-M3868Rhet unknown0.306Unknown
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-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-K2522KAERhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-T2520LERhet 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-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (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-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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)
0.5HYDIN-T584Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5CYP1A1-T461Nhet unknown0.036Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5CCDC135-D51Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
0.5ELL3-W140Rhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
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
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDAN1-R1065Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5TJP1-G1169Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5BAHD1-E26Ghet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5BAHD1-Q298Khet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NDUFAF1-E176Khet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging)
0.5KIF23-T51Ihet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.898 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-N1834Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LOXL1-G153Dhomozygous0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
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-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.5ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FANCI-EKT11Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I651Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHRNB1-E32Ghomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF224-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
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMPK-L423Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LTBP4-V194Ihomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-R635Ghet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LTBP4-T787Ahomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-T820Ahomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-T1140Mhomozygous0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-H1133Qhet unknown0.013Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HAUS5-Q580Rhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5RYR1-E3583Qhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.583 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EID2-E60Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYH14-M161Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OXER1-L407Vhomozygous0.218Unknown
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)
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5HS1BP3-A388Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5HS1BP3-P348Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5HS1BP3-V260Mhet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX746649-Q132*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NLRP12-F402Lhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5LILRB2-R322Hhomozygous0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB2-E161Dhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB2-R103Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR108-T241Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5GPR108-Q36Rhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBX4-G6Ahet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.5TBX4-A314Vhomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TECPR2-V320Ihomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-I683Vhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-Q981Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLX4-N44Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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)
0.5KCNJ12-M71Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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-E139Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5KCNJ12-T142Nhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.722 (possibly damaging)
0.5KCNJ12-G145Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-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-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-S371Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KCNJ12-E378Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.314 (possibly damaging)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5KCNJ12-E430Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5PIGS-R185Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5GNGT2-Q17Rhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5ABCA10-Q1506Shifthet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5ABCA10-R1322Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.906 (probably damaging)
0.5ABCA10-R1322*het unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5ABCA10-M916Thet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA10-S444Shifthet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5COG1-N392Shomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTDP1-S61Ahomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L59Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA3-N2815Khomozygous0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RNF157-G208Rhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V816Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHRS4L1-R122Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CINP-R164Hhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5CINP-N53Khet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EXO1-D249Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXO1-N279Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5EXO1-H354Rhet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.119 (benign)
0.5EXO1-E589Khet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5EXO1-E670Ghomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5EXO1-R723Chomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.512 (possibly damaging)
0.5EXO1-P757Lhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PITRM1-Q1037Rhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-A397Vhomozygous0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-I328Vhomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-L145Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PITRM1-Q8Rhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-Q2620Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L1800Shet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAX1-P396Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I3227Thet unknownUnknown
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-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CR1L-R116Ghomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-I139Vhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.089 (benign)
0.5CR1L-C207Yhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CR1L-G263Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR1L-N402Dhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CR1L-I455Vhomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-V500Ihet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARMC4-R787Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ARMC4-R666Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5BAG3-R71Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC25A22-H92Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A22-AN86GHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EFCAB4A-D10Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EFCAB4A-A34Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EFCAB4A-K153Ehomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ART1-T101Shet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ART1-R102Hhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ART1-L257Phet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-T25Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCDH15-P1794Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-R934Qhomozygous0.209Unknown
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
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghomozygous0.488Unknown
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
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihomozygous0.139Unknown
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
0.5HPS1-G283Whet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYOF-N1754Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYOF-D342Nhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5IER5-R92Hhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IER5-Q202Rhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IER5-P285Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEM1-L151Phet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5LEPRE1-M549Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TESK2-R18Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PHC2-V475Mhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PHC2-A145Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5SPOCD1-P1089Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SPOCD1-T109Ahomozygous0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5PRAMEF2-R33Shet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PRAMEF2-V67Ghet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRAMEF2-L73Fhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.5PRAMEF2-L122Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5CLCNKB-R27Lhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-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
0.5HSPG2-S4331Nhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-H3256Yhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-G2950Rhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-L2391Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRP8-R952Qhomozygous0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-D1910Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-R1867Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PDE4DIP-A1757Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PDE4DIP-H1598Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PDE4DIP-R1504Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDE4DIP-R1466Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5PDE4DIP-K1454Ehet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.931 (probably damaging)
0.5PDE4DIP-W1396Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-K1359Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5PDE4DIP-K1266Ehet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5PDE4DIP-A1066Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.123 (benign)
0.5PDE4DIP-F1013Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-C708Rhomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PDE4DIP-R681Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5PDE4DIP-R622*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PDE4DIP-S536Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.914 (probably damaging)
0.5PDE4DIP-H482Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-E410Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PDE4DIP-R295Hhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5PDE4DIP-S275Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.419 (possibly damaging)
0.5PDE4DIP-R25Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5FLG-Y3105Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5RHBG-G76Dhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5BC127741-E39*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-K276Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1324-H55Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1324-I86Vhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-L1009Phet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PPM1J-I291Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PPM1J-V236Ihomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PPM1J-L213Fhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5OVGP1-E676Qhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-H604Qhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5OVGP1-S536TPVGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OVGP1-M479Vhomozygous0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5SCUBE2-H712Qhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCUBE2-T285Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SBF2-Q1216Ehet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP11-H1070Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.941 (probably damaging)
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PARP2-D235Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging)
0.5NR_028064-G139Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1668Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests
0.5FREM2-R2066Chet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2153Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KNTC1-K245Nhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5SGCG-R116Hhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUPL1-A34Thet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUPL1-S166Phet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.514 (possibly damaging)
0.5TEP1-E1253Ghet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACIN1-S647SRShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S478Fhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.981 (probably damaging)
0.5ACIN1-S467Phet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhet unknown0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-E281Delhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERPINA9-V348Ahet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-R310Ihet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-H254Qhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-P236Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-T57Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SERPINA9-A42Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SERPINA1-V237Ahomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC9-E96Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TTC9-P103Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TTC9-P103Ahomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.071 (benign)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5STON1-GTF2A1L-K8Nhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-R127Thomozygous0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-Q607Hhomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-T1043Ahet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SOS2-A208Thet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HNF1A-G292Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCNXL3-Q258Rhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCNXL3-S458Chet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5PCNXL3-LALR1699PALChet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCNXL3-R1917Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5CPT1A-A275Thet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-Q51Ehet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chet unknown0.588Unknown
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
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5MICALCL-V70Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-Y93Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5MICALCL-A305Thomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-D369Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.813 (possibly damaging)
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALX4-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
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-G2527Dhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR10S1-Y190Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OR10S1-A112Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL2A1-E142Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5HELB-L191Phomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HELB-D506Ghet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T665Ihet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B4GALNT3-R992Hhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5VWF-F2561Yhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-D1472Hhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GYS2-T546Ahet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLCO1B3-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)
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A3-P759Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A3-A655Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MUC17-P1066Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TFEC-Q6Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging)
0.5ATP6V0A4-L345Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL6A5-D982Ghet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5COL6A5-T1280Phet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.93 (probably damaging)
0.5COL6A5-C1477Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-S1539Thet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-S1589Phet unknown0.687Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-P1623Hhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5COL6A5-Q2188Rhomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5COL6A5-G2205Dhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPATA16-M526Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPATA16-A509Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.5SPATA16-S44Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYTL1-R136Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MANBA-V828Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests
0.5MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
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
0.5CACNA2D1-D1045Ahet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BOD1L-P2396Lhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BOD1L-Q1497Rhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5BOD1L-L650Ihomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CMTM6-T91Ahet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CNOT10-Y541Fhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HACL1-I151Fhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5ADAM3A-G372ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-R356WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-N302Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-R215Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-F185Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SUMF1-S63Nhomozygous0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
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
0.5TSEN2-R126Hhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC21A-R1056Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTC21A-R1317Khomozygous0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOS3-D298Ehomozygous0.749Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5NAT2-I114Thomozygous0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-S3289Ihet 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-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTUS1-S267Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MTUS1-C148Rhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5IQCF2-R4Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-Q3848Khet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V3186Ihet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2597Qhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.089Unknown
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
0.5TNXB-S921Ahet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G878Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R511Hhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-A173Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y48Fhomozygous0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R64Khet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R70Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-S75Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-KF76RLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-GG78RRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M99Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q253Hhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhomozygous0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V59Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPB41L2-E998Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5DCDC2-S221Ghomozygous0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCDC2-P152Ahet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5ALDH5A1-G36Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-P182Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTHFD1L-R563Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MTHFD1L-A936Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MTHFD1L-I938Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MTHFD1L-G939Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-R29Phet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G198Shomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V199Ihet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLIC5-A273Ehet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-A499Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghet unknown0.774Unknown
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-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIF6-W719Rhomozygous0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5FBXL4-H35Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging)
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MOCS1-R572Hhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (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-K4121Rhomozygous0.784Unknown
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
0.5DSP-R1738Qhomozygous0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R43Khomozygous0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahomozygous0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Y2593Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thomozygous0.350Unknown
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
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STAG3L3-C87Rhomozygous0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5STAG3L3-E82Shifthet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V3094Ihet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-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
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-A691Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NSD1-A1036Phet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2250Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2261Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-M712Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASAH1-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
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-G3034Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD99-M166Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.194 (benign)
0.5CD99-N173Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5ABHD12-A349Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.453 (possibly damaging)
0.5DYNC1I2-R613Whet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5DYNC1I2-R616*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ABCA1-I883Mhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V825Ihet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROR2-V819Ihet unknown0.704Unknown
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
0.5IDH1-Y183Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM166A-P84Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GTSF1L-L56Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5UNC13B-F1096Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5BPIL1-D359Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RALGAPA2-E189Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5DFNB59-R265Chet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL5A2-T1230Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihomozygous0.362Unknown
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-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
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-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-P562Ahet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.182Unknown
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
0.5OBSL1-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
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5POMT1-V305Ihet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-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
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FKTN-R203Qhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-S2791Phomozygous0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RGPD4-Q1169Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RGPD4-H1284Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RGPD4-G1286Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICALL1-A519Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALL1-H685Rhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5MERTK-IS117TNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SARDH-M648Vhomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SARDH-R614Hhomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-A1033Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.712 (possibly damaging), Testable gene in GeneTests
0.5ENTHD1-P369Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWA3B-L42Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VWA3B-E372*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWA3B-L677Vhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-D1223Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5VWA3B-R1245Khomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTF1-A290Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.329Unknown
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
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S2132Lhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CBR3-C4Yhomozygous0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5TUBB1-Q43Phet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STX16-R148Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.622 (possibly damaging), Testable gene in GeneTests
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5CYP11B2-V386Ahet unknown0.063Unknown
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-L438Vhomozygous0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-T246Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5CFC1-W78Rhomozygous0.966Unknown
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)
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-T275Nhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.375ATP7B-A1195Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375ERCC6-P591Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH2-P152Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH2-N46Shet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375COL6A1-V460Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A1-S890Lhet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375KRT6B-R375Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.375KRT6B-N21Shet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GSTP1-I105Vhet unknown0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.25OSBPL5-I177Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OSBPL5-H172Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC35C1-I227Vhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMA2-A1604Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25PMS2-K541Ehet unknown0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), 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
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25NBN-E185Qhet unknown0.285Unknown
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-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTDH-C75Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MTDH-A78Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.308 (possibly damaging)
0.25MTDH-T317Ahet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign)
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25GLIS3-E515Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLIS3-P456Qhet unknown0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLIS3-S424Phomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25CALHM1-M323Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CALHM1-G282Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.059 (benign)
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLI3-P998Lhet unknown0.252Unknown
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
0.25CTBP2-Q971Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CTBP2-A966Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTBP2-Q539Ehet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTBP2-Y455Hhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTBP2-L392Phet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTBP2-R298Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHR-R554Khet unknown0.222Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNH1-P170Lhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.25KNDC1-E436Ghet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KNDC1-V1017Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25ZFP37-Q129Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZFP37-V7Dhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SEMA3D-K701Qhomozygous0.340Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SEMA3D-D123Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-A1032Thet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.108 (benign), Testable gene in GeneTests
0.25MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IFI44L-H73Rhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFI44L-I235Thet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFI44L-Y291*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25MST1-V575Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MST1-T294Shomozygous0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.17 (benign)
0.25MST1-Y184HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
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-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, 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
0.25CYP2D6-T486Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-K320Ehet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-H290Rhomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-L141Phomozygous0.397Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-V137Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CYP2D7P1-L123Shet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-E121Shifthet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP2D7P1-S32Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D7P1-F30Ihet unknown0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGB4-L1779Phet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC19A1-H27Rhet unknown0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25CDC27-N642Khet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-Y641Chet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-L619Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-F617Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-H615Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-TL611SAhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-K594Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDC27-S584Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MLC1-C171Fhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-L16Vhet unknown0.005Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL7A1-P1277Lhet unknown0.041Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL7A1-R1202Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25BCAR1-E423Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BCAR1-T152Ahet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BCAR1-P76Shomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF469-L2670Qhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF469-C3031*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25C1orf167-W59RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-R77ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-S125IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-R221HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-W232RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-Q400*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C1orf167-R728GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
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-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASXL1-G645Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ASXL1-L814Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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
0.25MAN2B1-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
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLYR1-H459Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLYR1-R381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (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
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AP3B1-V585Ehet unknown0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25DYNC2H1-K1413Rhomozygous0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.25DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-Q3250Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-A3687Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-T67Rhet unknown0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIM15-E84Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.553 (possibly damaging)
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICB-Q69Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MICB-N75Dhomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICB-T383Ahomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPAP1-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)
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25SLC2A2-T110Ihet unknown0.240Unknown
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
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25KIAA0586-R131Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA0586-L767Phomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA0586-P980Ahomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHGA-E264Dhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHGA-Q389Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IBSP-T238Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IBSP-T239Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC26A1-G316Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC26A1-K313Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf73-Q675RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf73-Q682Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0BTD-D444Hhet unknown0.030Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0CLEC7A-Y238*het unknown0.063Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0DOK7-S45Lhet unknown0.006Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,764,263,022 bases (96.7% of callable positions, 89.7% of total positions)

Coding region coverage: 31,933,699 bases (95.9% of all genes, 96.8% 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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