hu568455 - GET-Evidence variant report

Variant report for hu568455

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1RYR2-G1886SHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0613424Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.1
2WNT10A-F228IModerateWell-establishedWell-established pathogenic

Unknown, Heterozygous
0.0187907Causes ectodermal dysplasia in a recessive manner (malformations of teeth and nails, abnormal/loss of sweating). Although reports have high statistical significance, allele frequency for this variant is high relative to the incidence of the disease. This suggests it may be milder than other pathogenic variants and cause disease with less than 100% penetrance and/or that the disease is more common than reported. Bohring et al. report heterozygotes for pathogenic variants in this gene often have milder skin, tooth, and nail abnormalities, with males having a higher rate of tooth abnormalities.1
3SLC4A1-E40KModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0118052Rare and reported to cause hemolytic anemia in a recessive manner, although insufficient data is published to establish statistical significance. Polyphen 2 predicts a benign effect.1
4BTD-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
5COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Homozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
6PRF1-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
7MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
8MTRR-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
9TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
10ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
11RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
12WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
13SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
14ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
15CLEC7A-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
16H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
17TP53-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
18BRCA2-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
19TPMT-Y240CLowWell-establishedWell-established pharmacogenetic

Complex/Other, Heterozygous
0.0461825Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
20TPMT-A154TLowLikelyLikely pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0280774Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
21rs1544410LowUncertainUncertain 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
22FUT2-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
23CFB-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
24PRNP-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
25NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
26TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
27IL7R-T244ILowLikelyLikely protective

Unknown, Homozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
28TTR-T139MLowUncertainUncertain protective

Dominant, Heterozygous
0.00241681This variant is reported to have a protective effect in carriers of the V30M variant in this gene -- V30M causes familial amyloidosis, but this variant appears to protect against that pathogenic effect.1
29TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
30OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
31NLRP3-V200MLowLikelyLikely benign

Unknown, Heterozygous
Reported to cause familial cold urticaria by Hoffman et al, in a dominant manner. However the variant is quite common (1 in 50 Europeans is a carrier) while the disease is extremely rare (<1 in 1 million) -- therefore the variant can't be causing this effect.1
32NEFL-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
33FANCA-M717ILowLikelyLikely benign

Unknown, Heterozygous
0.0216583Rare polymorphism, not considered pathogenic.1
34MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
35GUCY2D-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
36LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
37ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
38RNASEH2B-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
39RP1-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
40PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
41PHYH-P29SLowUncertainUncertain benign

Unknown, Homozygous
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
42MLC1-N218KLowUncertainUncertain benign

Unknown, Heterozygous
0.00288158Probably benign.1
43MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
44BRCA1-Q356RLowUncertainUncertain benign

Unknown, Heterozygous
0.0462911One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.1
45PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
46APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
47TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
48THBD-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
49TAS2R38-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
50SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
51SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
52TYR-S192YLowUncertainUncertain benign

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

Exome coverage: 31926170 / 33282720 = 95.92%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.5377973281199128376138955553-955753, 957585-957623, 957636-957666, 957670, 957673-957677, 957688-957735, 957755-957842, 970657-970662, 970665-970704, 976045-976061, 976067-976079, 976116, 976120-976146, 976173-976260, 976553-976700, 976717-976739, 976769, 976859, 976862-976876, 976890-976928, 976949-976981, 977350-977351, 977355, 977380-977394, 977413-977435, 977495, 978629-978630, 978667, 978678, 978698-978711, 978740-978744, 978800-978810, 978920, 978923, 978928, 978938-978958, 978960-978968, 978974, 979014-979035, 979049, 979056-979058, 979061-979083, 979093-979101, 979285, 979299-979319, 979327, 979374-979402, 979489-979499, 979548, 979551, 979593-979595, 979772-979797, 979809, 979815-979819, 980571-980573, 980580, 980592, 980598, 980624-980657, 980794, 980809, 980814, 980833-980850, 980878-980894, 980902, 981124-981126, 981146, 981155-981163, 981168, 981237-981256, 981351, 981598-981631, 981643-981645, 981788-981814, 981840, 981872-982005, 982200-982225, 982233, 982246-982293, 982333, 982721-982772, 982830-982834, 982985-983007, 983018-983024, 983028, 983177-983201, 983233-983256, 983407-983426, 983449-983451, 983460-983462, 983470-983491, 983515, 983529-983745, 984249, 984253-984258, 984261-984317, 984331-984375, 984381-984389, 984414-984439, 984616-984621, 984626, 984630-984631, 984643-984652, 984667-984770, 984796-984825, 984946-984965, 985034-985035, 985039, 985047-985057, 985060-985066, 985073, 985107-985136, 985163-985165, 985314-985321, 985332-985333, 985341, 985347-985350, 985361-985369, 985379-985381, 985396, 985402-985415, 985636-985647, 985651-985653, 985676-985678, 985685, 985694, 985708-985709, 985873-985907, 985949, 985965, 986106-986129, 986139-986148, 986187-986198, 986205-986211, 986633-986639, 986660, 986703-986749, 986833-986912, 986921-986968, 986974-986977, 987019-987025, 987115-987124, 987128, 987168-987174, 987194-987195, 989162-989167, 989180, 989184, 989194-989234, 989331-989346, 989828-989831, 989895-989915, 990204-990240, 990289, 990309-990328, 990338-990361
2GABRD10.5960264900662354913591950863-1950930, 1956427-1956440, 1956453-1956462, 1956469-1956472, 1956806-1956825, 1957000, 1957003-1957042, 1957123-1957156, 1959036-1959042, 1959714, 1960550, 1960558-1960559, 1960573-1960584, 1960588-1960606, 1960621, 1960628-1960639, 1960646, 1960663-1960689, 1960990-1961021, 1961034, 1961046-1961069, 1961102-1961148, 1961168-1961171, 1961178-1961181, 1961184-1961185, 1961423-1961429, 1961438-1961521, 1961556-1961564, 1961582, 1961587-1961588, 1961611-1961654, 1961662-1961675
3PEX1010.706422018348622889812337222-2337227, 2337923-2337970, 2337998-2338002, 2338166-2338181, 2338252-2338258, 2338278-2338293, 2338303, 2338324-2338334, 2340000, 2340002-2340023, 2340183-2340204, 2340217, 2340260-2340288, 2340295-2340297, 2343842-2343941
4NPHP410.9467414155571122842816038330-6038473, 6046226-6046307, 6046348-6046349
5ESPN10.6838206627680381125656485020-6485248, 6485257-6485309, 6488304, 6488322, 6488325, 6488333, 6488377-6488385, 6488426-6488451, 6488463-6488479, 6500367-6500392, 6500413-6500455, 6500467-6500488, 6500709-6500744, 6500755-6500797, 6500845-6500846, 6500864-6500868, 6501028-6501070, 6501097-6501103, 6505726-6505738, 6505776-6505798, 6505850-6505854, 6505890-6505891, 6505900, 6505917, 6508763, 6508828-6508857, 6508882-6508888, 6508922-6508928, 6508976-6508988, 6509033-6509062, 6509100-6509106, 6509139-6509151, 6511676-6511709, 6511969-6511985, 6512042-6512048, 6512106-6512133, 6517286-6517292
6PLEKHG510.986516149263094331896527897-6527898, 6530352-6530354, 6532645-6532647, 6532658-6532660, 6534577, 6534633-6534647, 6556561-6556572, 6557380-6557383
7PEX1410.831569664903191113410683076-10683078, 10684427, 10684431-10684449, 10687409-10687410, 10689588-10689596, 10689677, 10689687-10689696, 10689700-10689702, 10689766, 10689790-10689824, 10689852-10689869, 10689881-10689909, 10689962, 10689974, 10689987-10690044
8TARDBP10.9887550200803214124511082356-11082362, 11082599-11082605
9MASP210.91120815138282183206111090820-11090825, 11094885-11094898, 11097760, 11102970-11102987, 11103041, 11103491-11103508, 11103532-11103571, 11103583, 11105465-11105485, 11105500-11105504, 11105508, 11105513-11105517, 11105527-11105538, 11105548-11105551, 11106967-11106997, 11107260-11107264
10MTHFR10.9771689497716945197111854103-11854144, 11861313, 11861317-11861318
11PLOD110.95283882783883103218411994840, 12012680-12012685, 12023673-12023693, 12024354-12024357, 12024829-12024842, 12026309-12026342, 12030754-12030769, 12030842-12030848
12CLCNKA10.95106589147287101206416349194, 16355738-16355751, 16356540-16356541, 16357028-16357041, 16357116-16357160, 16358741, 16358762-16358778, 16358946-16358952
13CLCNKB10.9573643410852788206416377973-16377995, 16378309, 16378760-16378803, 16378831-16378839, 16380228-16380231, 16381968-16381974
14ATP13A210.9920970928591628354317313602-17313604, 17313607-17313625, 17323633-17323637, 17326527
15HSPG210.99408014571949781317622151035, 22191515-22191516, 22199131, 22199148-22199151, 22199518-22199522, 22211370, 22211379, 22263648-22263710
16WNT410.9346590909090969105622456288-22456291, 22469339-22469364, 22469377-22469415
17HMGCL10.99079754601227997824134716-24134724
18FUCA110.9828693790149924140124194444-24194446, 24194450-24194453, 24194609, 24194729, 24194735, 24194760-24194773
19LDLRAP110.99244875943905792725870200-25870206
20SEPN110.89028776978417183166826126722-26126904
21KCNQ410.8860153256705238208841249766-41249776, 41249800-41249902, 41249924-41249968, 41249986-41249994, 41250018-41250028, 41250041-41250077, 41284279-41284300
22LEPRE110.998190863862514221143232399-43232402
23PCSK910.9889369889369923207955505553-55505558, 55521706, 55521709-55521712, 55521837-55521847, 55524266
24COL11A110.9996334982591225457103364285, 103364498
25GSTM110.83713850837139107657110230496-110230523, 110230792-110230793, 110230836-110230861, 110231931-110231947, 110233116, 110235885-110235917
26VANGL110.9993650793650811575116226588
27HSD3B210.9991063449508511119119965221
28NOTCH210.99662891046386257416120539778-120539784, 120572608-120572610, 120611995-120612009
29FLG10.998112588215992312186152278431-152278437, 152279403-152279409, 152281350-152281356, 152283801, 152285244
30CHRNB210.9960238568588561509154544388-154544393
31PKLR10.9994202898550711725155270045
32LMNA10.998236331569661567156105001
33LMNA10.9994987468671711995156105001
34NTRK110.9979088247595152391156830765-156830768, 156843447
35HMCN110.99988171279868216908185897751, 185953326
36CFH10.9883658008658433696196716353-196716395
37CFHR110.997985901309162993196801042, 196801078
38CACNA1S10.9987548914976975622201009383-201009386, 201018187-201018189
39GJC210.656060606060614541320228345460-228345461, 228345491-228345495, 228345533-228345577, 228345628-228345633, 228345815-228345823, 228345843-228345860, 228345869, 228345909-228345937, 228345995-228345997, 228346009, 228346055-228346060, 228346144-228346163, 228346229-228346260, 228346311-228346335, 228346345-228346425, 228346436-228346442, 228346445-228346446, 228346450, 228346452-228346455, 228346459, 228346481-228346489, 228346520-228346534, 228346543, 228346552, 228346555-228346558, 228346562-228346567, 228346583-228346601, 228346627-228346693, 228346709-228346735, 228346757-228346763
40ACTA110.9991181657848311134229568357
41PTF1A100.971631205673762898723481698-23481706, 23481710, 23481759, 23481829-23481830, 23481869-23481876, 23481897-23481902, 23481906
42RET100.9775784753363275334543572707-43572779, 43604548, 43615076
43ERCC6100.999776885319051448250736500
44EGR2100.995108315863037143164573019-64573021, 64573305, 64573471-64573473
45PRF1100.998201438848923166872358245, 72358257-72358258
46CDH23100.9978122513922221005673464757-73464770, 73464875-73464880, 73464883, 73494094
47LDB3100.9706959706959764218488466294, 88476141-88476188, 88476387, 88476395-88476398, 88476409-88476413, 88476423, 88476511-88476514
48GLUD1100.995825879546817167788854452-88854458
49PTEN100.99834983498352121289720651-89720652
50HPS1100.995726495726592106100177369, 100177375-100177376, 100177379, 100177385-100177387, 100177391-100177392
51FBXW4100.9951573849878961239103371466, 103371471-103371472, 103371478-103371480
52HPS6100.9961340206185692328103825377-103825383, 103825413, 103825417
53SUFU100.9993127147766311455104263910
54COL17A1100.99198931909212364494105816810-105816812, 105816815-105816818, 105816824, 105816827-105816847, 105816887-105816892, 105816921
55BAG3100.999421296296311728121436756
56HTRA1100.90020790020791441443124221169-124221182, 124221190-124221222, 124221246-124221257, 124221293-124221313, 124221328-124221333, 124221337, 124221350, 124221356-124221377, 124221380, 124221404, 124221407, 124221447-124221452, 124221464, 124221477-124221478, 124221480, 124221486-124221487, 124221571-124221589
57HRAS110.994736842105263570533768, 533855-533856
58TALDO1110.859960552268241421014747569-747578, 763344-763370, 763382-763439, 763859-763861, 763889-763932
59SLC25A22110.39814814814815585972791932-791958, 791979, 791996-792068, 792142-792143, 792159-792217, 792304-792330, 792356-792362, 792377-792418, 792428-792458, 792559-792588, 792603-792699, 792719-792727, 792870-792871, 792883-792896, 792900, 792903, 792920-792959, 792982-792988, 793538-793560, 793604-793619, 794472-794499, 794776-794804, 794822-794823, 794832, 794852-794855, 794871-794873, 794998-795006
60PNPLA2110.623102310231025711515819719-819743, 819748, 819754, 819759, 819772-819905, 821678, 821724, 821728-821746, 821802-821810, 821818, 821823, 821996, 822408-822414, 822492-822501, 823535-823547, 823565-823587, 823751-823760, 823813, 823820, 823826, 823829, 824000-824003, 824026-824028, 824031-824032, 824035, 824061-824096, 824103-824130, 824358-824369, 824385-824386, 824395-824400, 824403-824404, 824435-824436, 824534-824536, 824548-824553, 824569-824611, 824633-824644, 824659-824698, 824708, 824725-824727, 824740, 824744, 824762-824862
61CTSD110.6537530266343842912391774755-1774778, 1774856, 1774860-1774879, 1775041-1775072, 1775119, 1775224-1775275, 1775284-1775326, 1775339-1775368, 1778554, 1778571-1778596, 1778601, 1778614, 1780204-1780241, 1780309-1780314, 1780746-1780755, 1780795, 1780802-1780826, 1780862-1780863, 1780869, 1782539-1782541, 1782651-1782693, 1785022-1785089
62TNNI2110.86338797814208755491861633-1861657, 1861760, 1861782-1861794, 1862070-1862093, 1862413-1862423, 1862774
63TNNT3110.391248391248394737771944278-1944291, 1946329-1946330, 1947933-1947937, 1950358-1950363, 1950371-1950373, 1951040-1951058, 1953702-1953705, 1953716, 1954954-1954988, 1955000-1955004, 1955010-1955067, 1955171-1955238, 1955562-1955573, 1955580-1955588, 1955595-1955675, 1955778, 1955790, 1955801-1955854, 1956067-1956068, 1956084, 1956087-1956088, 1956097, 1956101-1956102, 1956106, 1958193-1958195, 1958202-1958229, 1959668-1959722
64H19110.975723622782452610712017800-2017824, 2018359
65IGF2110.375527426160344447112154217, 2154228-2154272, 2154295-2154422, 2154747, 2154755-2154792, 2154797-2154798, 2154802-2154803, 2154811-2154816, 2154830-2154833, 2154859-2154874, 2154885, 2154888-2154894, 2156597-2156598, 2156640-2156700, 2156720-2156753, 2161365, 2161370, 2161375, 2161378-2161409, 2161421-2161468, 2161484, 2161488-2161499
66TH110.051428571428571149415752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188133, 2188154-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189409, 2189721-2189886, 2190883-2190962, 2190971-2191060, 2191081-2191101, 2191920-2191924, 2191941-2192000, 2192927-2192967, 2192973-2193016
67KCNQ1110.8188084687346136820312466329-2466628, 2466651-2466679, 2466692-2466714, 2592569-2592576, 2593329-2593333, 2604728, 2608890, 2610049
68CDKN1C110.150368033648798089512905250-2905283, 2905334-2905343, 2905351, 2905900-2905914, 2905920-2906561, 2906568-2906596, 2906618-2906653, 2906679-2906719
69HBD110.9842342342342374445255652-5255658
70SMPD1110.993670886075951218966411931-6411942
71ABCC8110.998525073746317474617498300-17498306
72LDHA110.978978978978982199918422420-18422440
73WT1110.9755469755469838155432456310-32456314, 32456382-32456389, 32456601-32456609, 32456616-32456620, 32456677-32456682, 32456723, 32456817-32456820
74ALX4110.9838187702265420123644286594-44286613
75SLC35C1110.999053030303031105645827843
76PEX16110.87896253602305126104145931667, 45931670, 45931685-45931696, 45935429-45935461, 45935688-45935691, 45935694-45935695, 45935955, 45935965-45935966, 45937104, 45937364-45937383, 45939255-45939303
77F2110.999464954521131186946749572
78MYBPC3110.9966013071895413382547364453, 47368990, 47369431, 47371339-47371340, 47371649, 47372135-47372136, 47372940-47372944
79SLC39A13110.9498207885304756111647434966-47434983, 47435985-47436007, 47436433, 47436848-47436860, 47436863
80RAPSN110.9426957223567471123947459549, 47459552, 47460382-47460389, 47463186-47463225, 47463400-47463416, 47464237, 47464250, 47464270, 47470368
81SERPING1110.997338656021294150357365760-57365763
82ROM1110.999053030303031105662381093
83SLC22A12110.89530685920578174166264359390-64359397, 64360274, 64360925-64360937, 64361147-64361183, 64366302-64366323, 64367148-64367169, 64367193-64367198, 64367231-64367287, 64367324-64367325, 64367855, 64368257-64368259, 64368264, 64368269
84PYGM110.9802293396599450252964518888-64518894, 64521026, 64521032-64521041, 64521115, 64521120, 64521123, 64521394, 64521810-64521817, 64525295, 64527146-64527160, 64527204-64527207
85MEN1110.9729437229437250184864571862-64571865, 64572595-64572607, 64573218, 64575024-64575047, 64575125, 64577571-64577577
86CST6110.98888888888889545065780332-65780336
87SPTBN2110.9935870625958546717366468261-66468262, 66468465-66468472, 66472130-66472133, 66472902-66472905, 66475122-66475128, 66475239-66475245, 66475628, 66475709, 66483325-66483336
88PC110.90698331919706329353766616468-66616479, 66617169, 66617224, 66617288, 66617454, 66617485, 66617707-66617721, 66617725, 66617897-66617899, 66618145-66618166, 66618240-66618245, 66618279, 66618533-66618580, 66618620, 66619912, 66619977-66619986, 66619998-66620012, 66620042-66620043, 66620066-66620068, 66620734, 66620749, 66631253-66631294, 66631393-66631397, 66633674-66633676, 66633695, 66633711-66633718, 66633724-66633758, 66637804, 66637816-66637821, 66637856-66637864, 66637914-66637917, 66638326-66638332, 66638800-66638809, 66638834-66638837, 66638848-66638849, 66639158-66639159, 66639180-66639220, 66639531, 66639537
89CABP4110.8683574879227110982867222947-67222953, 67222998-67222999, 67223102-67223162, 67223258-67223260, 67223681-67223689, 67223891-67223911, 67225118-67225123
90AIP110.6173212487411938099367254643, 67256738-67256741, 67256803-67256850, 67256871-67256893, 67256913-67256926, 67257521-67257553, 67257559-67257590, 67257625-67257656, 67257670-67257685, 67257788-67257841, 67257862-67257888, 67257912-67257928, 67258259, 67258295-67258313, 67258326-67258362, 67258391-67258393, 67258404-67258422
91NDUFS8110.925750394944714763367799780-67799783, 67800432-67800448, 67800459, 67800671-67800695
92TCIRG1110.95788206979543105249367810297-67810299, 67810302, 67810305-67810308, 67810843, 67810848-67810852, 67811309-67811316, 67811353-67811374, 67811744-67811756, 67812532-67812539, 67815349, 67816569-67816583, 67817234-67817251, 67817627-67817632
93LRP5110.9740099009901126484868080183-68080273, 68174091, 68174251, 68191100, 68207350, 68216448-68216478
94IGHMBP2110.999664654594231298268671477
95DHCR7110.997198879551824142871146674, 71146691-71146693
96MYO7A110.775872442839951490664876868002, 76868033, 76871309, 76873353, 76883794-76883799, 76883810-76883858, 76883894-76883898, 76885804-76885822, 76885833, 76885846-76885866, 76885872-76885874, 76885884-76885889, 76885910-76885919, 76885925-76885926, 76885931, 76885943, 76885945-76885947, 76886418-76886510, 76888595-76888673, 76890091-76890175, 76890781-76890999, 76891420-76891450, 76891465-76891527, 76892426-76892635, 76893007-76893200, 76893469-76893476, 76893485, 76893500-76893542, 76893555-76893565, 76893597-76893645, 76894113, 76894120, 76894126-76894180, 76895646-76895684, 76895699-76895760, 76900389-76900400, 76900502, 76901084, 76901096, 76901100, 76901103, 76901164-76901184, 76901778-76901828, 76901909-76901915, 76903200, 76903274-76903284, 76903313-76903319
97FZD4110.995662949194557161486666087-86666093
98APOA1110.9838308457711413804116706794-116706806
99FXYD2110.997716894977171438117695393
100SCN4B110.9810771470160113687118023358-118023370
101TECTA110.99551430781129296465120980197, 120983900-120983918, 120984401, 120984420-120984427
102CACNA2D4120.99824253075571634141906656-1906658, 1906667, 1906670-1906671
103CACNA1C120.998171010516691265612622145, 2794934-2794940, 2800355-2800358
104VWF120.995498696991233884426131926-6131932, 6132003-6132033
105TNFRSF1A120.988304093567251613686438601-6438616
106TPI1120.96266666666667287506976731-6976735, 6976758-6976760, 6976827-6976845, 6978459
107ATN1120.99300307864542535737045892-7045912, 7045923, 7045928-7045929, 7047143
108DNM1L120.9950248756218911221132866245-32866255
109PKP2120.9956245027844111251433049443-33049453
110COL2A1120.999775985663081446448398080
111MLL2120.986998916576382161661449424468-49424471, 49425780-49425782, 49426153-49426154, 49426571-49426586, 49426638, 49426641, 49426644-49426645, 49426726-49426755, 49426905-49426930, 49426956-49426960, 49427027-49427056, 49427262-49427267, 49430956-49430969, 49431020-49431026, 49431106, 49431267-49431288, 49431517, 49431522, 49431686-49431691, 49432504-49432510, 49432607, 49432634-49432641, 49433313-49433334
112TUBA1A120.804824561403518945649522195-49522241, 49522266-49522272, 49522303-49522320, 49522572-49522588
113KRT81120.9723320158102842151852682999-52683005, 52684021-52684027, 52684950-52684956, 52685176-52685196
114KRT86120.9739904175222538146152695997, 52696899-52696933, 52697952, 52699548
115KRT6B120.92802359882006122169552843632-52843637, 52844265, 52845397-52845438, 52845528-52845534, 52845571-52845604, 52845662-52845686, 52845798-52845804
116KRT6C120.92920353982301120169552865925, 52867094, 52867105, 52867168-52867218, 52867230-52867263, 52867321-52867345, 52867457-52867463
117KRT6A120.9887905604719819169552884735, 52886787-52886796, 52886908-52886915
118KRT5120.999435984207561177352908899
119KRT1120.999483204134371193553070145
120RPS26120.962643678160921334856436341, 56436374-56436385
121GNS120.999397227245331165965152984
122HAL120.999493414387031197496370221
123SLC17A8120.995480225988781770100774582-100774589
124UNG120.998938428874731942109535567
125ATP2A2120.99296899968041223129110719595-110719616
126ATXN2120.878741755454084783942111890644, 111894016, 112036612-112036620, 112036662-112036806, 112036856-112036873, 112036880-112036890, 112036897, 112036901-112036955, 112036968-112037052, 112037054, 112037063-112037066, 112037079-112037098, 112037126, 112037129, 112037153-112037188, 112037210-112037238, 112037250-112037306, 112037316-112037318
127HNF1A120.9994725738396611896121437362
128PUS1120.9976635514018731284132414453-132414454, 132414618
129BRCA2130.9992200448474281025732912459-32912466
130ZIC2130.838649155722332581599100634370, 100634386-100634396, 100634398-100634410, 100634412, 100634465-100634468, 100634553-100634555, 100634558, 100634583-100634611, 100634846-100634847, 100634850-100634851, 100635004-100635040, 100635053-100635071, 100637654, 100637667-100637668, 100637715-100637747, 100637753, 100637755-100637763, 100637771-100637780, 100637788-100637811, 100637850, 100637866-100637897, 100637915-100637936
131COL4A1130.99461077844311275010110959348-110959374
132F7130.639700374531844811335113760156-113760171, 113760182-113760214, 113765037-113765059, 113765084-113765090, 113769994-113770005, 113770008-113770012, 113770019-113770086, 113771164-113771170, 113771175, 113771800-113771806, 113772733-113772736, 113772745-113772784, 113772832-113772910, 113772961-113772962, 113772965-113772972, 113773001-113773027, 113773037-113773039, 113773070-113773091, 113773099-113773139, 113773157-113773207, 113773230-113773240, 113773292-113773303, 113773307-113773308
133F10130.98500340831629221467113777176-113777196, 113777224
134GRK1130.9958628841607671692114325873-114325879
135TEP1140.999746321664132788420844316, 20844320
136PABPN1140.99674267100977392123790681-23790683
137MYH6140.9934707903780138582023858213-23858215, 23869543-23869545, 23871673, 23871925-23871926, 23871941-23871969
138MYH7140.9967286501377419580823885389, 23886746-23886752, 23894006-23894015, 23894495
139NRL140.98739495798319971424550595-24550600, 24551912-24551914
140TGM1140.9926650366748218245424724287-24724289, 24724294-24724295, 24724300-24724304, 24724379-24724386
141FOXG1140.85646258503401211147029236624-29236626, 29236663-29236688, 29236692-29236710, 29236712-29236713, 29236716, 29236750-29236755, 29236760, 29236772-29236813, 29236818-29236923, 29236929-29236932, 29236935
142NKX2-1140.9809286898839123120636986836-36986852, 36988376-36988381
143C14orf104140.9928400954653918251450100765, 50100980-50100982, 50101458-50101466, 50101556-50101560
144GCH1140.977423638778221775355369213, 55369235-55369244, 55369251, 55369263, 55369269, 55369295-55369297
145ZFYVE26140.9973753280839920762068238799-68238802, 68241734, 68241747-68241761
146VSX2140.998158379373852108674706422-74706423
147ESRRB140.996070726915526152776964678, 76964690-76964694
148POMT2140.9937860630270814225377786970-77786983
149ATXN3140.9889502762430912108692537331-92537342
150AMN140.2048458149779710831362103389039-103389049, 103390048-103390073, 103390094-103390102, 103390132-103390166, 103390272-103390278, 103394763-103394777, 103394796-103394808, 103394828-103394848, 103395095-103395268, 103395288-103395312, 103395458-103395470, 103395500-103395535, 103395546-103395564, 103395570-103395595, 103395765-103395816, 103395839-103395873, 103395992-103396020, 103396027-103396074, 103396261-103396294, 103396300-103396423, 103396502-103396524, 103396544-103396664, 103396743-103396830, 103396913-103396977, 103396984-103397017
151INF2140.7053333333333311053750105167712-105167713, 105167778-105167780, 105167851-105167852, 105167862, 105167908, 105167918, 105167928-105167930, 105167933-105167956, 105167970, 105168009-105168013, 105168073-105168093, 105169511-105169527, 105169649, 105169654, 105169667-105169691, 105169723, 105169741-105169771, 105170254-105170284, 105172389-105172395, 105172431, 105172440, 105173298-105173328, 105173356-105173363, 105173636-105173654, 105173696, 105173699, 105173703-105173713, 105173730, 105173742-105173811, 105173821-105174164, 105174196-105174211, 105174254-105174261, 105174265, 105174272-105174274, 105174297, 105174302, 105174314-105174325, 105174333-105174337, 105174795-105174841, 105174888-105174924, 105176019-105176021, 105176026-105176033, 105176439-105176498, 105177416, 105177428, 105177444-105177523, 105178013-105178036, 105178840-105178856, 105179217-105179223, 105179251-105179300, 105179585-105179586, 105179610-105179621, 105179642, 105179645, 105179827, 105179830-105179831, 105179887, 105179904, 105180565, 105180584, 105180636-105180642, 105180666, 105180706, 105180921, 105180925, 105180965-105180966, 105181128-105181148
152NIPA1150.8272727272727317199023086234-23086404
153CHST14150.9743589743589729113140763436-40763443, 40763503, 40763518-40763533, 40763672, 40763816-40763818
154STRC150.9968093093093117532843893070-43893075, 43897499, 43910437-43910443, 43910867-43910869
155SPG11150.999863611565741733244867230
156FBN1150.999535747446614861648729979, 48760191-48760193
157CLN6150.959401709401713893668500478-68500494, 68521840-68521860
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248GALK1170.77608142493639264117973754138-73754154, 73754159, 73754291-73754300, 73754310-73754311, 73754315-73754322, 73754331-73754337, 73754361-73754371, 73754374-73754429, 73754434, 73754541-73754558, 73754568-73754612, 73754620-73754647, 73754655-73754680, 73758785, 73759172-73759200, 73761172-73761175
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250SEPT9170.91936399772856142176175398342, 75478288-75478308, 75478398, 75483577, 75484901-75484927, 75484939-75484940, 75484943-75484944, 75494605-75494644, 75494671-75494715, 75494739-75494740
251GAA170.9860090940888440285978078709-78078727, 78081612-78081614, 78082594-78082596, 78084553, 78087052-78087053, 78091490-78091501
252SGSH170.9542743538767469150978184367-78184381, 78184463-78184471, 78184641, 78185951-78185977, 78188551-78188564, 78188855-78188857
253ACTG1170.9414893617021366112879477954, 79477958-79477959, 79478236-79478238, 79478245, 79478262, 79478305-79478350, 79478412, 79478425, 79478428, 79478513-79478515, 79478574, 79478610, 79479005-79479008
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255AFG3L2180.9791144527986650239412370849, 12376986-12377016, 12377053-12377070
256NPC1180.999739379723741383721166270
257LAMA3180.99960007998441000221269656, 21269659-21269660, 21269680
258CCBE1180.9901719901719912122157133977-57133979, 57133991-57133996, 57134055-57134057
259TNFRSF11A180.9746083198271247185159992586-59992606, 59992612, 59992615-59992639
260CTDP1180.90540540540541273288677439948-77440046, 77440057-77440079, 77440152-77440180, 77440205-77440229, 77456014-77456040, 77473127-77473128, 77474612, 77474749-77474756, 77475188-77475190, 77496480-77496521, 77513745, 77513751-77513763
261ELANE190.13681592039801694804852329-852362, 852380-852395, 852876-853032, 853262-853311, 853322-853370, 853386, 853389-853403, 855564-855716, 855726-855750, 855766-855794, 855958-856076, 856090, 856120-856164
262KISS1R190.744360902255643061197917503, 917520-917527, 917530, 917534, 917540, 917553-917609, 917618-917658, 918544-918546, 918555, 918564-918567, 918585, 918603, 918652-918668, 919519-919529, 919933-919966, 919974-919979, 920014-920028, 920034-920035, 920100-920106, 920290-920323, 920360-920394, 920642, 920657, 920703-920725
263STK11190.4677419354838769313021206980-1206982, 1207032-1207047, 1207074, 1207077-1207078, 1218462-1218481, 1218489-1218499, 1219323-1219332, 1219365-1219375, 1219390-1219412, 1220382-1220431, 1220441-1220450, 1220497-1220499, 1220504, 1220580-1220619, 1220643-1220649, 1220660-1220710, 1221221-1221292, 1221300-1221339, 1221962-1222005, 1222994, 1223031-1223100, 1223125-1223171, 1226453-1226458, 1226473-1226573, 1226594-1226646
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266RAX2190.558558558558562455553770665-3770708, 3770729-3770836, 3770871-3770877, 3770896-3770932, 3770943, 3770951, 3770956-3770957, 3771526, 3771530, 3771534-3771538, 3771541-3771552, 3771599-3771601, 3771603-3771618, 3771708, 3771718-3771722, 3771730
267MAP2K2190.6741479634247739212034090614-4090640, 4094451-4094479, 4095403-4095423, 4097281-4097315, 4097335-4097341, 4099201-4099247, 4099294-4099333, 4099365-4099384, 4101109-4101115, 4101241-4101278, 4102449, 4110590-4110593, 4110639, 4117417-4117430, 4117500-4117501, 4117513-4117515, 4117548-4117549, 4117554, 4117586, 4123781-4123872
268NDUFA11190.9882629107981254265903623-5903625, 5903641-5903642
269C3190.997996794871791049926707224-6707225, 6709796, 6714010-6714016
270INSR190.992046276211143341497293843-7293866, 7293870-7293871, 7293874-7293880
271MCOLN1190.981640849110733217437587641-7587651, 7594489-7594492, 7598504-7598520
272PNPLA6190.97540160642579839847604841-7604864, 7606909, 7606912-7606920, 7614934, 7614941-7614942, 7615211-7615217, 7615253, 7615301, 7615888-7615891, 7615906-7615914, 7615934, 7615957-7615993, 7616295
273ADAMTS10190.988526570048313833128649828-8649833, 8650016-8650026, 8650056, 8650102, 8650391-8650393, 8650410, 8654222-8654233, 8670177-8670179
274TYK2190.82239057239057633356410461730, 10463146-10463150, 10463657, 10463707-10463709, 10463717-10463741, 10463752-10463754, 10463766, 10464207-10464235, 10464241, 10464246-10464247, 10464289-10464296, 10464299, 10464307, 10464314, 10464754-10464774, 10465207, 10465210-10465216, 10465265-10465285, 10467286, 10468442-10468485, 10468527, 10468534-10468561, 10468564, 10468574, 10468679-10468696, 10468726-10468738, 10468741-10468746, 10468755-10468792, 10468805-10468814, 10469865-10469881, 10469901-10469905, 10469908, 10469911, 10469935-10469957, 10469974-10469978, 10472758, 10475310-10475313, 10475335, 10475443-10475447, 10475577, 10475581, 10475591, 10475595, 10475707-10475709, 10476205-10476216, 10476276-10476278, 10476334-10476353, 10476436, 10476440, 10476443, 10476487-10476534, 10476547-10476574, 10477226, 10478767, 10478853, 10488890-10488947, 10488970-10489008, 10489017-10489072
275DNM2190.99808649062385261310893784-10893785, 10897375, 10897380, 10904517
276LDLR190.9899341850561426258311224258-11224270, 11224285-11224297
277PRKCSH190.998109640831763158711558341-11558343
278MAN2B1190.9858366271409743303612759079-12759080, 12759084, 12767851-12767855, 12768288-12768319, 12768348, 12768949, 12769318
279CACNA1A190.94575189469485408752113318192-13318201, 13318261-13318276, 13318296-13318363, 13318389-13318393, 13318396-13318408, 13318424, 13318497-13318546, 13318567-13318580, 13318595, 13318600-13318609, 13318612-13318700, 13318791-13318827, 13319570-13319592, 13319595, 13319618-13319624, 13319635-13319636, 13319692-13319699, 13409454-13409455, 13409489-13409492, 13409601-13409619, 13409724-13409750, 13409859
280NOTCH3190.9913867355727860696615272153, 15302314, 15302317, 15302885, 15302889, 15311615-15311629, 15311637, 15311655-15311675, 15311697-15311714
281JAK3190.9822222222222260337517940921-17940923, 17940932-17940935, 17940945-17940946, 17940949-17940966, 17953147-17953151, 17953249, 17953324-17953330, 17953861-17953880
282SLC5A5190.9917184265010416193217985011-17985012, 17994521-17994530, 17999182-17999185
283IL12RB1190.968325791855263198918191784-18191801, 18191806-18191811, 18197570-18197606, 18197618, 18197633
284COMP190.89094107299912248227418893899-18893915, 18896520-18896523, 18896529-18896539, 18896648, 18896845-18896847, 18896857-18896859, 18899026-18899035, 18899068, 18899072, 18899076-18899078, 18899219-18899222, 18899238-18899244, 18899463-18899496, 18899542-18899553, 18899997-18900035, 18900081-18900089, 18900096, 18900795-18900802, 18900811-18900812, 18900852-18900876, 18900886, 18900919-18900923, 18901400-18901411, 18901659-18901690, 18902005-18902007
285CEBPA190.60259981429898428107733792389-33792392, 33792646-33792686, 33792719-33792739, 33792751-33792809, 33792860-33792947, 33792959-33793035, 33793118-33793143, 33793151-33793217, 33793228-33793236, 33793285-33793320
286SCN1B190.957868649318463480735521725-35521758
287HAMP190.98823529411765325535773520-35773522
288MAG190.9930887825624713188135786868, 35790689, 35790695-35790696, 35790703, 35791091, 35791209-35791215
289PRODH2190.998758535071382161136303307-36303308
290TYROBP190.949852507374631733936399075-36399091
291SDHAF1190.942528735632182034836486177-36486184, 36486355-36486361, 36486365-36486369
292WDR62190.999781277340331457236591703
293RYR1190.967189257127744961511738931407-38931449, 38980007, 38980021, 38980048-38980054, 38983217-38983238, 38985115, 38987176-38987179, 38987500-38987514, 38987536-38987544, 38990640, 39055599-39055631, 39055725-39055734, 39055745-39055810, 39055822-39055858, 39055869-39055876, 39055882-39056041, 39056150-39056161, 39056163-39056165, 39056174, 39056200-39056216, 39056233-39056239, 39056242-39056247, 39056268, 39056272-39056274, 39056286-39056310, 39076635-39076637
294ACTN4190.75767543859649663273639138511-39138517, 39191725, 39200897-39200901, 39207797-39207799, 39207807, 39207819-39207838, 39208595-39208602, 39208700-39208714, 39212180-39212198, 39212223-39212230, 39212239-39212276, 39212290, 39212316, 39212320-39212323, 39214268-39214273, 39214281, 39214343-39214357, 39214597-39214634, 39214671-39214677, 39214687-39214705, 39214852-39214866, 39214948-39214955, 39214967-39214979, 39215071-39215134, 39215194-39215205, 39216364-39216375, 39216426-39216476, 39216495-39216543, 39217624-39217671, 39217743, 39218607-39218623, 39218648-39218657, 39219646, 39219707-39219754, 39219762-39219794, 39219939-39219945, 39219973-39220021, 39220049-39220055, 39220061
295DLL3190.9897684437264419185739993550-39993560, 39993567-39993569, 39994855-39994856, 39997857-39997858, 39998076
296PRX190.998860009119935438640909615, 40909732-40909735
297TGFB1190.961636828644545117341837065-41837072, 41837078, 41838165, 41854245-41854266, 41858676, 41858679, 41858682, 41858929, 41858934-41858942
298BCKDHA190.998505231689092133841930452-41930453
299ATP1A3190.9959216965742315367842470913, 42470916-42470917, 42470947, 42470950, 42470953, 42470956, 42470962, 42471019-42471021, 42471050, 42471339, 42480572-42480573
300BCAM190.9724430312665652188745312393-45312402, 45312408-45312422, 45312424-45312432, 45312444-45312452, 45324066-45324074
301ERCC2190.9929916776171716228345867270-45867276, 45867523-45867529, 45868340-45868341
302SIX5190.81621621621622408222046268869-46268895, 46268934-46268942, 46268981, 46269051, 46269176-46269192, 46269206-46269237, 46269310-46269314, 46269318, 46269679-46269723, 46269937, 46270070, 46270151-46270199, 46270344, 46270372-46270408, 46271456, 46271555, 46271566-46271580, 46271587-46271588, 46271591-46271594, 46271702-46271719, 46271748-46271749, 46271790-46271816, 46271840-46271845, 46271847, 46271855-46271859, 46271890-46271917, 46271924-46271926, 46271934-46271979, 46272066-46272087
303DMPK190.9761904761904845189046273825-46273839, 46274266-46274271, 46274280-46274281, 46274294, 46281855-46281863, 46281873, 46282601, 46285552, 46285560, 46285579, 46285586, 46285589-46285593, 46285610
304FKRP190.91801075268817122148847259070, 47259074, 47259152, 47259185-47259193, 47259213, 47259232, 47259235, 47259250-47259283, 47259315, 47259364-47259369, 47259413-47259424, 47259463-47259470, 47259502-47259521, 47259640-47259642, 47259660, 47259671-47259685, 47259742-47259747, 47260168
305DBP190.6298568507157536297849134159, 49134165, 49134178-49134195, 49138837-49138960, 49138966-49138991, 49138997-49139022, 49139038-49139050, 49139070-49139135, 49139153-49139188, 49139195-49139219, 49139243-49139247, 49140193-49140199, 49140202-49140214, 49140236
306BCAT2190.9304495335029782117949303086-49303095, 49303247-49303257, 49303454, 49303481-49303482, 49303492-49303529, 49309775-49309783, 49309787, 49309813-49309815, 49314255-49314261
307GYS1190.9878048780487827221449494728-49494733, 49496319-49496339
308MED25190.91176470588235198224450321599-50321622, 50321680-50321684, 50321721-50321722, 50322433-50322440, 50333774-50333781, 50334118-50334125, 50334631-50334632, 50334666-50334675, 50335384-50335386, 50335655-50335670, 50338409-50338416, 50338792-50338809, 50338844-50338861, 50339075, 50339190-50339202, 50339486-50339491, 50339494-50339504, 50339534-50339562, 50340133-50340136, 50340140-50340141, 50340151, 50340155
309PNKP190.9885057471264418156650365862-50365865, 50368401, 50368404-50368411, 50369657, 50370458-50370461
310MYH14190.9980363279332412611150752991-50752997, 50753036-50753038, 50753899, 50764828
311KCNC3190.90017590149516227227450823575-50823578, 50826409-50826434, 50826474-50826475, 50831723-50831749, 50831758, 50831810-50831817, 50831928-50831938, 50831954, 50831963-50831967, 50832089-50832094, 50832105, 50832122-50832127, 50832152, 50832156-50832157, 50832207-50832313, 50832321-50832339
312NLRP12190.93502824858757207318654297374-54297379, 54301609-54301614, 54304522-54304536, 54304613-54304614, 54304618, 54304622-54304624, 54304629, 54304647, 54304650-54304651, 54307376, 54310837, 54312841-54312844, 54312858-54312888, 54313096, 54313166-54313172, 54313587-54313604, 54313624-54313628, 54313665-54313678, 54313697-54313705, 54313780, 54313860-54313861, 54313954-54313957, 54313961, 54313965-54313989, 54314062-54314105, 54314234, 54314334
313PRKCG190.995702005730669209454392951, 54392977-54392980, 54393205, 54393208, 54409963, 54409969
314PRPF31190.62733333333333559150054621721, 54621728, 54621741, 54621765-54621768, 54621789, 54621805-54621806, 54621819-54621820, 54625315-54625322, 54626908-54626924, 54627128, 54627133-54627193, 54627878-54627906, 54627933-54627949, 54627955-54627963, 54627968-54627971, 54629915-54629939, 54631448-54631462, 54631471, 54631492-54631575, 54631680-54631708, 54631738-54631750, 54632432-54632448, 54632458-54632560, 54632647-54632745, 54634815, 54634850-54634863
315TSEN34190.953912111468384393354695333-54695375
316NLRP7190.997752087347467311455451167-55451173
317TNNT1190.980988593155891578955644298, 55644325, 55645261, 55645517-55645524, 55652267-55652270
318TNNI3190.99835796387521160955667654
319TPO20.971805852962177928021480865-1480886, 1520663-1520684, 1520693-1520694, 1520718, 1520724-1520725, 1544417-1544421, 1544458-1544475, 1544479, 1544491-1544495, 1546239
320KLF1120.9727095516569242153910183844-10183885
321MYCN20.9749103942652335139516082575-16082579, 16082614-16082623, 16082649, 16082824-16082839, 16082843, 16082870, 16082925
322HADHA20.996509598603848229226437313-26437314, 26437928-26437933
323OTOF20.697364030697361814599426690306-26690311, 26693470-26693472, 26693484, 26693487, 26693554-26693559, 26695387-26695394, 26695410, 26695414, 26695420-26695431, 26695442, 26695494-26695515, 26696000-26696006, 26696032-26696036, 26696039-26696045, 26696049-26696073, 26696100-26696104, 26696151-26696153, 26696274-26696283, 26696314-26696435, 26696859-26696978, 26697381-26697542, 26698317-26698361, 26698782-26698784, 26698793-26698817, 26698828-26698836, 26698844-26698866, 26698890-26698906, 26698996-26699182, 26699759-26699901, 26699908-26699911, 26700040-26700065, 26700074-26700156, 26700284-26700374, 26700517-26700559, 26700581-26700593, 26700599, 26700616-26700617, 26702132-26702160, 26702183-26702187, 26702213-26702221, 26702229-26702234, 26702344, 26702361-26702371, 26702407-26702413, 26702419-26702489, 26702508, 26702513-26702518, 26703071-26703082, 26703103-26703179, 26703654-26703677, 26703687-26703722, 26703731-26703837, 26705275, 26705283-26705299, 26705322-26705330, 26705357-26705363, 26705394-26705422, 26705443-26705460, 26706342-26706348, 26706367-26706369, 26706378-26706390, 26706416-26706423, 26706437, 26707342-26707364, 26707436-26707468
324SPAST20.999459751485681185132289217
325CYP1B120.9797794117647133163238301788-38301792, 38301832-38301833, 38301940-38301945, 38301981, 38302014-38302026, 38302029-38302032, 38302063, 38302357
326ABCG520.99591002044998195644058991-44058998
327LRPPRC20.998327359617687418544223068-44223074
328SIX320.997997997998299945170033-45170034
329MSH620.9879990203281949408348010445-48010461, 48010471-48010475, 48010487-48010490, 48010541-48010556, 48010559, 48010576-48010580, 48032757
330ATP6V1B120.999351491569391154271163090
331SPR20.94402035623414478673114763-73114803, 73114844-73114846
332MOGS20.9952267303102612251474688818-74688822, 74692261, 74692264-74692265, 74692273, 74692353-74692355
333HTRA220.998547567175022137774757252-74757253
334GGCX20.9956082564778210227785781401-85781410
335REEP120.980198019801981260686564616-86564627
336EIF2AK320.998209489704576335188926730-88926735
337TMEM12720.99581589958159371796931037-96931039
338ZAP7020.99946236559141186098340825
339RANBP220.971989664082692719675109347853-109347894, 109357110-109357126, 109365376-109365379, 109365423-109365458, 109368074-109368111, 109371632-109371645, 109378557-109378598, 109378619-109378628, 109383087, 109383354-109383360, 109384466-109384510, 109384523-109384529, 109384628-109384634, 109384767
340MERTK20.99933000112656322-112656324
341GLI220.99432892249527274761121708961-121708966, 121746159-121746162, 121746167-121746168, 121746183-121746184, 121746247-121746249, 121746260-121746263, 121746497-121746501, 121747406
342BIN120.9971941638608351782127815049, 127827642-127827644, 127864513
343PROC20.999278499278511386128180717
344CFC120.8883928571428675672131280363-131280392, 131280797-131280819, 131285306-131285326, 131285337
345RAB3GAP120.9993211133740722946135888277, 135888284
346NEB20.99979973966156419974152417749, 152432837, 152432840-152432841
347HOXD1320.98837209302326121032176957619-176957625, 176957726, 176957802-176957804, 176957828
348TTN20.999930173170547100248179664300-179664306
349COL3A120.99409225176096264401189867744-189867747, 189871663-189871672, 189872619-189872630
350HSPD120.98896631823461191722198351835-198351853
351NDUFS120.9972527472527562184206992541, 206992591-206992592, 207018368-207018370
352WNT10A20.9968102073365241254219745809, 219757550, 219757554-219757555
353DES20.98230714791224251413220283273-220283278, 220283646-220283655, 220283701-220283709
354OBSL120.979792655069411155691220416847-220416856, 220417381, 220435391-220435398, 220435404, 220435644-220435651, 220435660-220435713, 220435739-220435764, 220435911-220435917
355CHRND20.97554697554698381554233390937, 233390943-233390945, 233396263-233396278, 233398684-233398697, 233399901-233399904
356CHRNG20.99742599742641554233409517-233409520
357COL6A320.9995804489196649534238249095-238249097, 238280451
358AGXT20.95928753180662481179241808304-241808319, 241808339-241808359, 241808400, 241810097-241810106
359D2HGDH20.94955300127714791566242695385-242695409, 242695418-242695429, 242707223, 242707270-242707275, 242707299, 242707302, 242707316-242707317, 242707326, 242707330-242707357, 242707360, 242707384
360AVP200.85656565656566714953063401, 3063650-3063667, 3063673, 3063684-3063688, 3063750-3063795
361PANK2200.965557501459435917133869793-3869801, 3870011-3870016, 3870023, 3870102-3870128, 3870133, 3870177, 3870198-3870199, 3870202, 3870267-3870273, 3870281-3870282, 3870286-3870287
362JAG1200.9961717254580314365710653521, 10654144, 10654155-10654159, 10654163-10654169
363THBD200.9918981481481514172823029501-23029503, 23029574-23029576, 23029883, 23029891-23029897
364SNTA1200.9552042160737868151832000381-32000389, 32031162-32031190, 32031254, 32031317, 32031320-32031331, 32031378, 32031380-32031389, 32031405, 32031408-32031411
365GDF5200.998007968127493150634021966, 34022363, 34022389
366ADA200.9835164835164818109243257756-43257773
367SALL4200.997469955724238316250418830, 50418834-50418840
368GNAS200.944444444444444173857415179-57415190, 57415218-57415220, 57415244-57415247, 57415258-57415264, 57415327-57415329, 57415787-57415794, 57415881-57415884
369GNAS200.94605009633911168311457429068, 57429072-57429074, 57429085, 57429090, 57429098, 57429459-57429467, 57429470-57429478, 57429625-57429717, 57429752-57429755, 57430011, 57430017-57430019, 57430022-57430029, 57430057-57430078, 57430115-57430121, 57430376-57430380
370COL9A3200.79805352798054415205561448417-61448494, 61448921-61448978, 61448987, 61449870-61449875, 61451281-61451295, 61452533-61452540, 61453142-61453143, 61453483-61453506, 61453952-61453984, 61456320-61456333, 61456339-61456361, 61456369-61456373, 61457567-61457580, 61457598-61457604, 61458119-61458146, 61458149, 61458160, 61458166-61458168, 61459312-61459328, 61460306, 61460980, 61460992-61461033, 61461714-61461717, 61461869-61461872, 61461904-61461928
371CHRNA4200.167728237791931568188461978090-61978183, 61978202-61978215, 61981005-61981197, 61981209-61981257, 61981268-61981693, 61981699-61981795, 61981828-61981873, 61981880-61981890, 61981926-61981946, 61981952, 61981963, 61981965-61981969, 61981996, 61982004-61982044, 61982050-61982087, 61982092-61982093, 61982106-61982111, 61982124, 61982131-61982132, 61982138-61982172, 61982231-61982255, 61982271-61982335, 61982369-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
372KCNQ2200.63917525773196945261962037997-62038020, 62038029-62038063, 62038089-62038115, 62038148, 62038194-62038220, 62038229-62038260, 62038269-62038285, 62038312, 62038319, 62038322-62038324, 62038335-62038366, 62038375-62038456, 62038473-62038510, 62038547, 62038563-62038597, 62038608-62038646, 62038655-62038695, 62039781-62039827, 62044861, 62044869, 62044873, 62046258-62046289, 62046322, 62046334, 62059780-62059788, 62065172, 62065179-62065187, 62065192, 62065228, 62070951-62070962, 62071009, 62073761-62073765, 62073768-62073769, 62073772, 62073776-62073777, 62076073, 62076084-62076090, 62076104-62076110, 62076159-62076187, 62076640-62076679, 62078190, 62103521-62103816
373SOX18200.32900432900433775115562679519, 62679616-62679619, 62679656-62679670, 62679721-62679760, 62679766-62679804, 62679845-62679862, 62679919-62679944, 62679949-62679951, 62679956-62679972, 62679975, 62680015-62680095, 62680105-62680207, 62680242-62680297, 62680303-62680315, 62680512-62680869
374APP210.99783830523135231327394167, 27394182-27394185
375IFNGR2210.9201183431952781101434775850-34775922, 34793837-34793844
376RCAN1210.931488801054025275935987085-35987091, 35987195-35987210, 35987270-35987298
377CLDN14210.99861111111111172037833567
378CSTB210.996632996633129745196111
379AIRE210.53785103785104757163845705890-45705911, 45705932-45705997, 45706442-45706471, 45706483, 45706924-45706948, 45706958-45706979, 45707425-45707445, 45707457, 45707459-45707474, 45708269-45708286, 45708297-45708322, 45708325, 45708337-45708341, 45709578-45709590, 45709598-45709605, 45709628-45709685, 45709891-45709900, 45709932-45709944, 45710985-45710989, 45711002, 45711014-45711057, 45712216, 45712876-45712890, 45712917, 45712924-45712925, 45712928-45712937, 45712950-45712972, 45712983-45713014, 45713039-45713048, 45713056-45713058, 45713706-45713736, 45713768-45713782, 45713792-45713793, 45714284-45714386, 45716266-45716328, 45717563-45717572, 45717581-45717610
380ITGB2210.9731601731601762231046308608-46308620, 46308725-46308758, 46308799-46308802, 46309993, 46311736-46311742, 46311905, 46326973-46326974
381COL18A1210.558784425451092323526546875446, 46875450, 46875468-46875482, 46875616, 46875687-46875706, 46875765-46875774, 46875818-46875838, 46875944-46875961, 46876052, 46876060, 46876196-46876204, 46876227-46876251, 46876328-46876335, 46876380, 46876410-46876419, 46876429, 46876459-46876469, 46876475-46876479, 46876517-46876577, 46876590, 46876636-46876692, 46876765-46876795, 46888174-46888249, 46888285, 46888311, 46888327, 46888379-46888413, 46888483-46888491, 46888510-46888545, 46888581-46888586, 46888600-46888605, 46888608, 46888628-46888672, 46896329-46896331, 46896334-46896354, 46896359-46896363, 46897325, 46897717-46897720, 46897837-46897849, 46897870-46897879, 46900056, 46900397, 46900626, 46900630-46900640, 46900663-46900668, 46900682, 46900709-46900715, 46900727-46900731, 46900739-46900741, 46900758-46900763, 46906775-46906896, 46907371, 46907399, 46907413-46907423, 46908332-46908344, 46909413-46909415, 46910189-46910212, 46910218-46910260, 46910768-46910785, 46911139-46911189, 46911198-46911228, 46912449-46912478, 46912604-46912627, 46913077-46913139, 46913415-46913429, 46913436-46913489, 46914459-46914474, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923936-46923959, 46924330-46924355, 46924363-46924470, 46925048-46925079, 46925086-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929291-46929320, 46929351-46929365, 46929374-46929382, 46929388-46929400, 46929409, 46929436-46929485, 46929508-46929515, 46930009-46930015, 46930036, 46930039-46930066, 46930117-46930175, 46931025-46931091, 46931109-46931116, 46932134-46932138, 46932179, 46932182, 46932193, 46932196-46932231, 46932269
382COL6A1210.74020084224166802308747401765-47401859, 47402548-47402559, 47402569-47402587, 47402604, 47402609-47402677, 47404200-47404220, 47404226-47404227, 47404244-47404335, 47404344-47404346, 47404352, 47404363, 47404367-47404383, 47406482-47406512, 47406522-47406543, 47406559-47406597, 47406858-47406979, 47407413-47407433, 47407524-47407568, 47409033-47409051, 47409550-47409566, 47410172-47410193, 47410303-47410336, 47410721, 47410925-47410929, 47410931, 47412311, 47418841-47418847, 47419100, 47422536-47422575, 47423332, 47423488-47423524, 47423654-47423656
383COL6A2210.61568627450981176306047531441-47531495, 47531934-47531937, 47531965, 47532051, 47532268-47532314, 47535819-47535828, 47535927-47535958, 47536567-47536591, 47536684-47536708, 47537314, 47537322-47537363, 47537814, 47537824-47537849, 47538528-47538538, 47538570-47538590, 47538957-47538964, 47539005, 47539010-47539020, 47539025-47539026, 47539702-47539722, 47539749-47539764, 47540429-47540437, 47540445-47540458, 47540464-47540479, 47540487, 47540975-47540996, 47541015, 47541024-47541035, 47541470-47541475, 47541489-47541532, 47542022-47542023, 47542043-47542072, 47542439-47542445, 47542789-47542804, 47542822-47542851, 47544799-47544803, 47544832, 47545188, 47545193-47545200, 47545440, 47545514-47545517, 47545701-47545728, 47545753, 47545756-47545759, 47545830, 47545870-47545899, 47545916-47545926, 47545929-47545932, 47545951-47546000, 47546027, 47546106-47546149, 47546446-47546449, 47551893, 47551904-47551907, 47551910-47551936, 47551957-47552089, 47552099-47552148, 47552161-47552207, 47552239-47552259, 47552275-47552330, 47552360, 47552365-47552369, 47552381-47552385, 47552391-47552410, 47552430-47552466
384COL6A2210.3654970760233921734247552183-47552207, 47552239-47552259, 47552275-47552330, 47552360, 47552365-47552369, 47552381-47552385, 47552391-47552410, 47552430-47552513
385FTCD210.162361623616241362162647556907-47556925, 47556934-47556987, 47557153-47557184, 47557194-47557248, 47558447-47558455, 47558471-47558498, 47558511-47558516, 47558521-47558560, 47558794-47558811, 47558835-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570066, 47570075-47570164, 47570302-47570351, 47570371-47570383, 47570387-47570397, 47570424-47570439, 47571472-47571513, 47571555-47571574, 47571593, 47571619-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574217, 47574223-47574246, 47575401-47575437
386PCNT210.9993007691539371001147744143-47744145, 47841918, 47848454, 47848491, 47863854
387PEX26220.99891067538126191818561216
388PRODH220.87243483083749230180318901013-18901018, 18904414, 18908875, 18908899, 18910331, 18923528-18923620, 18923637-18923650, 18923655-18923658, 18923671-18923766, 18923769, 18923772, 18923790-18923800
389GP1BB220.01771336553945261062119711093-19711102, 19711377-19711476, 19711487-19711986
390TBX1220.59475806451613603148819747175, 19747180-19747200, 19748428-19748716, 19753295-19753296, 19753304-19753331, 19753426, 19753429-19753455, 19753463, 19753503, 19753515, 19753932-19754008, 19754024-19754059, 19754073-19754077, 19754091-19754094, 19754104-19754105, 19754107-19754108, 19754125-19754128, 19754196-19754226, 19754279-19754348
391SMARCB1220.9861830742659816115824175779, 24175825-24175839
392CHEK2220.9505962521294787176129083895-29083917, 29083943-29083965, 29085165-29085175, 29090020-29090036, 29126408-29126420
393TCN2220.9890965732087214128431011757, 31022496-31022508
394TIMP3220.970125786163521963633197998-33198009, 33198031-33198037
395MYH9220.9964303926568121588336688096, 36689832, 36690139, 36692918-36692924, 36695023, 36696925, 36697079-36697081, 36697581-36697582, 36697585, 36697594, 36697602, 36697612
396TRIOBP220.96097492251338277709838121781, 38121789, 38121966-38121993, 38122185-38122200, 38122449, 38122480-38122482, 38122493-38122496, 38129324, 38129393-38129419, 38130506-38130526, 38130576-38130595, 38130649, 38130657-38130680, 38130721-38130724, 38130811-38130829, 38130929-38130962, 38131012-38131032, 38131253-38131259, 38131393-38131394, 38131411, 38153909-38153944, 38154143, 38165175-38165178
397PLA2G6220.05725971370143146148938508274-38508312, 38508511-38508584, 38509494-38509534, 38509547-38509783, 38509800-38509869
398PLA2G6220.75340768277571597242138508168-38508312, 38508511-38508584, 38509494-38509534, 38509547-38509661, 38511534-38511578, 38511592-38511614, 38511623-38511688, 38512106-38512114, 38512120-38512159, 38512179, 38512183-38512186, 38512197-38512218, 38516830-38516834, 38519111-38519114, 38519237-38519239
399TNFRSF13C220.495495495495528055542321429-42321439, 42322105-42322151, 42322166-42322185, 42322199, 42322203-42322294, 42322299, 42322303, 42322308-42322312, 42322318, 42322322-42322327, 42322645-42322648, 42322659-42322662, 42322680-42322750, 42322762-42322777
400CYB5R3220.956953642384113990643027431-43027456, 43045302-43045304, 43045312-43045321
401TRMU220.81832543443918230126646731684-46731688, 46731695-46731739, 46746188-46746194, 46746281-46746326, 46748051, 46748161-46748165, 46751363-46751410, 46751476, 46751933-46751934, 46751957-46751969, 46752804-46752833, 46752852-46752878
402ALG12220.9768234492160934146750301577-50301582, 50303727-50303736, 50304163, 50304169, 50307113, 50307274-50307275, 50307281-50307289, 50307293, 50307308-50307310
403MLC1220.9867724867724915113450502463-50502474, 50502593-50502595
404SCO2220.958801498127343380150962658-50962672, 50962721, 50962782, 50962825-50962840
405TYMP220.64044168391994521144950964201, 50964208-50964233, 50964246, 50964255, 50964262-50964328, 50964430-50964449, 50964458-50964570, 50964675-50964725, 50964735-50964750, 50964758, 50964795-50964826, 50964837-50964840, 50964845-50964854, 50964862-50964863, 50964877-50964905, 50965024-50965033, 50965080-50965095, 50965117-50965150, 50965695-50965705, 50967647, 50967748-50967763, 50967930-50967946, 50967963-50967981, 50968107-50968129
406ARSA220.9704724409448845152451063665-51063698, 51063826-51063827, 51063880, 51064081-51064086, 51064470-51064471
407SHANK3220.565408085430972279524451113070-51113132, 51113476-51113679, 51115078-51115090, 51115094-51115101, 51115110, 51117013-51117063, 51117074-51117121, 51117197-51117348, 51117447-51117450, 51117461-51117614, 51117740-51117821, 51117830-51117856, 51121768-51121845, 51123013-51123079, 51133214-51133283, 51133307-51133388, 51133430-51133461, 51135671-51135719, 51135951-51136143, 51137118-51137122, 51137145-51137161, 51137187, 51137200-51137225, 51137230-51137231, 51142595-51142604, 51143259-51143290, 51143487-51143495, 51144558-51144559, 51144563, 51144568-51144576, 51158696-51158749, 51158755-51158818, 51158831-51158865, 51158876-51158894, 51158903-51158985, 51158992-51159007, 51159013-51159047, 51159066-51159071, 51159099-51159102, 51159130-51159214, 51159232-51159258, 51159281, 51159292-51159311, 51159338-51159364, 51159373-51159387, 51159418-51159420, 51159432-51159434, 51159456-51159457, 51159593-51159596, 51159657, 51159660-51159665, 51159933-51159939, 51160531-51160532, 51160561-51160562, 51160596-51160630, 51169197, 51169209-51169213, 51169233, 51169295-51169328, 51169388-51169411, 51169423-51169438, 51169467-51169514, 51169533, 51169536-51169537, 51169540, 51169558, 51169565-51169582, 51169625-51169658, 51169667-51169701, 51169707-51169712, 51169730-51169733
408FANCD230.9954710144927520441610085536, 10088266, 10088299, 10088308, 10088340-10088346, 10089628, 10091153, 10107165-10107171
409VHL30.99065420560748664210183729-10183734
410CRTAP30.999170812603651120633155862
411TMIE30.956427015250542045946742873, 46742941, 46742948, 46742958-46742959, 46742978, 46743015, 46743021, 46743024-46743035
412TMIE30.955414012738852147146742978, 46743015, 46743021, 46743024-46743035, 46751074-46751079
413TREX130.9207207207207288111048507961, 48508028-48508045, 48508061, 48508068, 48508071-48508073, 48508242-48508245, 48508280-48508286, 48508409-48508410, 48508443, 48508465, 48508837, 48508877-48508894, 48508910-48508939
414COL7A130.97396717600453230883548612646, 48613325, 48616352-48616374, 48616710, 48616803-48616807, 48616812, 48617089, 48619173-48619174, 48619351, 48619376, 48621360, 48621380, 48621971, 48622526, 48622530, 48622994-48622996, 48623019, 48623607-48623608, 48623814-48623825, 48624689, 48624705, 48624768, 48625231-48625249, 48625297-48625319, 48625786-48625809, 48626079, 48626161, 48626760-48626771, 48626829, 48627051-48627089, 48627098-48627143, 48627663
415LAMB230.999258847507874539749160272, 49162821, 49162824, 49162890
416AMT30.9471947194719564121249456457-49456466, 49456775-49456781, 49457143-49457144, 49457703, 49459539-49459571, 49459869-49459879
417GNAT130.996201329534664105350231260, 50232346-50232348
418HYAL130.9617737003058150130850337948-50337955, 50338063-50338101, 50338477, 50339605, 50339609
419TNNC130.909465020576134448652485313-52485314, 52485407-52485408, 52485432-52485442, 52485448, 52485827, 52486122-52486125, 52486225-52486246, 52486265
420TKT30.9818376068376134187253262134-53262139, 53263426-53263430, 53269170-53269171, 53275177, 53275188-53275189, 53275208, 53289864-53289875, 53289878, 53289887-53289890
421FLNB30.9985913689332811780957994388-57994390, 57994436-57994443
422PDHB30.999074074074071108058415461
423ATXN730.95313601127555133283863898315-63898339, 63898361-63898363, 63898375, 63898414-63898420, 63898427-63898499, 63898512-63898528, 63898577-63898583
424PROK230.910256410256413539071834141-71834175
425ARL13B30.9992229992231128793762009
426CASR30.9996910719802313237122003670
427FOXL230.97347480106101301131138664801, 138664837-138664843, 138664869-138664890
428MCCC130.9995408631772312178182804500
429ALG330.896735003796511361317183960436, 183960704, 183961395, 183961595, 183961685, 183961760-183961770, 183961781-183961784, 183963022-183963024, 183963036-183963040, 183966572-183966584, 183966597-183966639, 183966647-183966670, 183966678-183966687, 183966711-183966728
430CLCN230.99184278828328222697184072336-184072357
431CPN230.95421245421245751638194061870-194061880, 194061906-194061907, 194061913, 194061919-194061921, 194061953, 194061956-194061972, 194062060, 194062165, 194062171-194062196, 194062241, 194062282-194062288, 194062691-194062693, 194063178
432PDE6B40.936842105263161622565619430-619433, 619483-619501, 619521-619529, 619543, 619573-619596, 619607-619617, 619621, 619665, 619729, 619779, 619864-619883, 647743, 647889, 647915-647943, 648623, 648631, 648643, 649740-649766, 651241, 651246, 651260-651261, 652747, 657653, 660389, 660395, 660399
433IDUA40.1992864424057115711962980873-980957, 980967, 980969-980982, 980984-981000, 981008-981013, 981597-981709, 981719-981721, 981733-981737, 994400-994425, 994447-994453, 994456, 994485, 994684-994723, 994737-994741, 995256, 995265-995271, 995307, 995341-995351, 995467-995554, 995561-995619, 995639-995669, 995770-995835, 995859-995949, 996057-996118, 996148-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997413, 997817-997871, 997885-997900, 998051-998098, 998108-998113, 998116-998132, 998138-998154, 998158-998164
434FGFR340.6456530696332986024271795662-1795754, 1800981-1801006, 1801039-1801125, 1801171-1801241, 1801474-1801518, 1803094-1803096, 1803101-1803108, 1803114-1803146, 1803152, 1803156, 1803189-1803190, 1803255-1803263, 1803351-1803375, 1803404-1803410, 1803415-1803421, 1803445-1803470, 1803562, 1803591-1803600, 1803682-1803697, 1803734, 1803739-1803745, 1803750-1803752, 1804647-1804648, 1804710-1804729, 1806059, 1806189, 1806581, 1806633-1806677, 1806690-1806696, 1807085-1807089, 1807095-1807096, 1807132-1807178, 1807190-1807203, 1807286-1807289, 1807328-1807349, 1807375-1807396, 1807477-1807509, 1807540, 1807555, 1807573, 1807659, 1807778-1807785, 1807851-1807853, 1807862-1807866, 1807984-1807985, 1807990-1807991, 1808042, 1808273-1808280, 1808315, 1808360-1808403, 1808556-1808592, 1808613-1808618, 1808641, 1808644-1808646, 1808863, 1808915-1808916, 1808931, 1808936-1808949, 1808978-1808986
435SH3BP240.984383414108782918572819960-2819981, 2820031, 2820077, 2834107-2834111
436HTT40.9757132251564322994293076594-3076603, 3076604-3076797, 3234961-3234974, 3240649, 3240657, 3241590-3241596, 3241782-3241783
437DOK740.7089108910891144115153465145-3465156, 3465233-3465243, 3465260-3465263, 3465266-3465270, 3475222-3475232, 3475244, 3475261, 3478195, 3478229, 3478247, 3494567-3494721, 3494731-3494736, 3494779-3494859, 3494889, 3494891, 3494991-3495091, 3495095, 3495116-3495162
438DOK740.436548223350253335913494567-3494721, 3494731-3494736, 3494779-3494859, 3494889, 3494891, 3494991-3495079
439EVC40.991943605236662429795713195-5713208, 5755636-5755642, 5800439-5800441
440WFS140.9438832772166115026736279186-6279203, 6279221-6279277, 6279294, 6279321-6279382, 6279410-6279414, 6293691-6293697
441KIT40.998976458546573293155592155, 55599337-55599338
442COQ240.9792207792207824115584205881-84205885, 84205900-84205912, 84205920-84205925
443CDS140.9956709956716138685504666-85504671
444PKD240.9917440660474724290788928950-88928955, 88928968, 88928997-88929013
445CISD240.9264705882352930408103808512-103808522, 103808569-103808587
446MFSD840.9955041746949371557128859954-128859959, 128886240
447SDHA50.923809523809521521995218502-218508, 218532-218533, 223682-223683, 224475, 228319-228325, 233752, 236676-236678, 236681, 240518-240527, 251107-251114, 251143-251149, 251173-251218, 251500-251506, 254526-254532, 254571-254612, 256514
448SLC6A1950.6787401574803161219051201776-1201783, 1201792-1201856, 1201867-1201967, 1208883-1208905, 1208934, 1208981-1208992, 1210559-1210570, 1210594-1210617, 1210635-1210661, 1212497-1212517, 1213578-1213688, 1214068-1214113, 1214147-1214180, 1216775, 1216786, 1216799-1216801, 1216983-1217032, 1219018, 1219620-1219643, 1219671-1219701, 1219714, 1219717, 1219734, 1219741-1219744, 1221992-1222000
449TERT50.54663136216534154133991253925-1253928, 1253935-1253936, 1254528-1254534, 1254551, 1254554, 1254568, 1254599, 1254602, 1254612, 1258715-1258740, 1264519-1264523, 1264557-1264562, 1264578-1264581, 1264594-1264598, 1264694-1264700, 1266595-1266616, 1268638, 1268664-1268683, 1268689-1268698, 1271247-1271253, 1271284-1271319, 1272300-1272343, 1272370, 1272374-1272379, 1278756-1278769, 1278810, 1278822, 1278834-1278837, 1278862-1278865, 1279444-1279454, 1279463-1279464, 1279476-1279490, 1279496, 1279504-1279506, 1279511-1279580, 1280282-1280297, 1280315-1280358, 1280364-1280441, 1282674-1282723, 1293436, 1293439-1293441, 1293481-1293505, 1293577-1293578, 1293581, 1293588-1293595, 1293600-1293631, 1293649-1293659, 1293676-1293681, 1293686-1293696, 1293731-1293779, 1293851-1293893, 1293904-1293953, 1293993-1294009, 1294027-1294058, 1294063-1294100, 1294126-1294136, 1294218-1294271, 1294293-1294377, 1294418-1294419, 1294426-1294431, 1294440-1294547, 1294553-1294713, 1294722-1294781, 1294886-1295008, 1295019-1295026, 1295033-1295085, 1295096-1295098, 1295100-1295104
450SLC6A350.612989801395672118631406347-1406352, 1406359-1406367, 1406370, 1406378, 1409141-1409204, 1409223-1409240, 1409836-1409933, 1409943, 1409959-1409964, 1411358-1411383, 1411396-1411399, 1411402-1411413, 1411435-1411470, 1414806-1414930, 1416213-1416250, 1416293-1416316, 1420684-1420686, 1420709-1420753, 1420765-1420767, 1420777-1420818, 1421991-1422129, 1432579-1432598
451ANKH50.997971602434083147914871554-14871556
452FAM134B50.9872824631860819149416616896-16616914
453ERCC850.9731318219983232119160200640-60200671
454SMN250.978531073446331988569345526-69345528, 69362946-69362961
455SMN250.97740112994352088570220944-70220946, 70220952, 70238370-70238385
456HEXB50.996409335727116167173981159-73981164
457RASA150.999363867684482314486564541, 86564545
458LMNB150.908006814310051621761126113201-126113215, 126113278-126113321, 126113354-126113361, 126113374-126113409, 126113460, 126113468-126113486, 126113496-126113508, 126113511-126113521, 126113534-126113536, 126113542-126113553
459SLC22A550.98148148148148311674131705868-131705889, 131705915-131705923
460SIL150.9949494949494971386138283024, 138283060-138283061, 138283065, 138283100, 138286878, 138286916
461TCOF150.9995408631772324356149755034, 149771662
462NIPAL450.9992862241256211401156887209
463GABRG250.9993540051679611548161495059
464MSX250.9179104477611966804174151728-174151742, 174151768-174151790, 174151845, 174151850, 174151853-174151875, 174151887, 174151906, 174156489
465F1250.9828178694158110582176830368-176830377
466F1250.98268398268398321848176830368-176830387, 176830501-176830505, 176830509-176830513, 176831263, 176831266
467GRM650.9874715261959332634178413738-178413744, 178421597, 178421903-178421927
468SQSTM150.896447467876041371323179247937-179247960, 179247977-179248014, 179248017, 179248046-179248051, 179248059-179248070, 179248075-179248081, 179248097-179248141, 179251017-179251020
469FLT450.3044965786901328464092180038331-180038337, 180043367, 180043450-180043489, 180043950-180043954, 180043989-180043994, 180045770-180045920, 180046021-180046070, 180046087-180046109, 180046253-180046366, 180046669-180046769, 180047173-180047243, 180047264-180047308, 180047609-180047664, 180047686-180047715, 180047876-180047890, 180047896-180048007, 180048106-180048140, 180048155-180048252, 180048542-180048567, 180048577, 180048609-180048655, 180048667, 180048672, 180048675, 180048679-180048751, 180048769-180048843, 180048853-180048857, 180048860-180048871, 180048880-180048884, 180048892-180048904, 180049731-180049769, 180049779-180049839, 180050935-180050964, 180050982-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056770, 180056776-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
470FOXC160.764741275571639116621610681-1610686, 1610699-1610700, 1610711-1610720, 1610731-1610772, 1610775-1610777, 1610790-1610792, 1610810-1610893, 1611103-1611124, 1611299-1611310, 1611318, 1611366, 1611399, 1611407-1611410, 1611492-1611530, 1611553, 1611562-1611579, 1611629-1611638, 1611641, 1611643, 1611647, 1611650-1611652, 1611660-1611710, 1611719-1611731, 1611798-1611825, 1611914-1611938, 1612108-1612116
471ATXN160.9599673202614498244816327862-16327959
472HLA-H60.954666666666673475029856363, 29856368, 29856421-29856430, 29856593-29856614
473TNXB60.9611197511664175192931976896-31976929, 31977179, 31977388-31977394, 31977552, 31977835-31977841, 31978948, 31979422-31979428, 31979456-31979458, 31979526, 31980130-31980142
474CYP21A260.9596774193548460148832006205-32006236, 32006317, 32006337, 32006964-32006967, 32007590-32007596, 32007846-32007852, 32008687, 32008820-32008826
475TNXB60.988765810354311431272932009631-32009664, 32010123-32010129, 32010569-32010575, 32011798-32011803, 32012276-32012315, 32012380, 32012984-32013029, 32026081-32026082
476HLA-DQA160.983072916666671376832609169, 32609173, 32609181, 32609195, 32609199, 32610436, 32610453, 32610461, 32610478, 32610481, 32610487, 32610534-32610535
477HLA-DQB160.6348600508905928778632629124-32629173, 32629224-32629234, 32629889-32629891, 32629920, 32629955, 32632575-32632781, 32634300-32634302, 32634306, 32634318, 32634326-32634331, 32634341, 32634345, 32634350
478SYNGAP160.9821428571428672403233388042-33388108, 33393632-33393636
479RPS1060.9859437751004749834392465-34392471
480FANCE60.9795158286778433161135420354-35420355, 35420398-35420428
481TULP160.994475138121559162935479961-35479967, 35480002, 35480620
482MOCS160.78859236002093404191139893422-39893499, 39893514-39893589, 39895068-39895317
483PRPH260.999039385206531104142672170
484PEX660.996941896024469294342935243-42935244, 42936701-42936702, 42936707, 42946645-42946648
485RUNX260.9763729246487937156645390460-45390463, 45390466, 45390478-45390487, 45390499, 45390502-45390505, 45390517-45390533
486EYS60.999788023317442943565016974-65016975
487SLC17A560.998655913978492148874345119, 74345122
488OSTM160.9930348258706571005108395746-108395752
489GJA160.97911227154047241149121768922-121768945
490ENPP160.98740100791937352778132129221-132129224, 132129285-132129312, 132129337-132129339
491EPM2A60.995983935742974996145956393-145956396
492TBP60.901960784313731001020170871010-170871109
493LFNG70.3964912280701868811402559496-2559855, 2559870-2559927, 2564333-2564371, 2564853-2564865, 2564928-2564940, 2565056-2565072, 2565083-2565115, 2565145-2565167, 2565198-2565201, 2565336-2565357, 2565369, 2565878-2565904, 2565955, 2566005, 2566474-2566537, 2566780, 2566798-2566807, 2566830
494PMS270.989571263035922725896013046-6013052, 6026985-6026991, 6037054, 6043393-6043401, 6048632-6048634
495TWIST170.7766830870279113660919156628, 19156656-19156690, 19156708-19156714, 19156761-19156762, 19156769, 19156774, 19156791, 19156800-19156881, 19156908-19156913
496DNAH1170.9997789566755131357221603864-21603865, 21630956
497HOXA1370.73521850899743309116727238911-27238918, 27239079-27239104, 27239206-27239212, 27239240-27239256, 27239268-27239281, 27239307-27239320, 27239323-27239338, 27239347, 27239358-27239359, 27239364-27239419, 27239441-27239488, 27239501-27239546, 27239560-27239613
498GLI370.998313303816158474342005588-42005595
499PGAM270.8543307086614211176244102423, 44102480-44102486, 44104431-44104449, 44104460-44104461, 44104507-44104513, 44104610, 44104854, 44104879-44104884, 44104920-44104982, 44105106-44105109
500GCK70.92219842969308109140144185183-44185184, 44185226-44185240, 44185280, 44187249-44187293, 44187400, 44189580-44189581, 44191870-44191907, 44193028, 44193031-44193034
501CCM270.90786516853933123133545039933-45039962, 45113132-45113157, 45113887-45113927, 45115598-45115623
502EGFR70.9972474538948510363355087030-55087037, 55269003-55269004
503GUSB70.997955010224954195665445346-65445349
504ASL70.58853046594982574139565546878-65546882, 65546900-65546926, 65546959-65546970, 65546980, 65547387, 65547423-65547438, 65547867-65547886, 65548064-65548070, 65548089, 65551572-65551583, 65551731-65551772, 65551791-65551808, 65552321, 65552360-65552362, 65552753-65552778, 65553794-65553796, 65553810-65553850, 65553853, 65553863-65553880, 65553886-65553892, 65553907, 65554078-65554079, 65554097-65554144, 65554157-65554162, 65554273, 65554294-65554297, 65554308, 65554599-65554648, 65557019-65557066, 65557544-65557588, 65557638-65557650, 65557755-65557782, 65557802-65557808, 65557811-65557813, 65557825-65557863, 65557879-65557880, 65557886-65557899
505KCTD770.986206896551721287066094082-66094083, 66094176-66094185
506SBDS70.974767596281541975366456147-66456165
507NCF170.8654545454545511182572639957-72639995, 72643632, 72643700-72643710, 72644230-72644265, 72645877, 72645880-72645881, 72645924-72645930, 72648701, 72648738-72648750
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559LHX390.848635235732011831209139089173, 139089349-139089382, 139090556, 139090659, 139090754-139090792, 139090847-139090853, 139090856, 139090877-139090905, 139091659-139091664, 139091668, 139094806-139094854, 139094861-139094869, 139094881-139094885
560INPP5E90.741085271317835011935139326299-139326317, 139326341-139326356, 139326367-139326371, 139326376, 139326398-139326402, 139326415-139326420, 139326427-139326437, 139327037-139327038, 139327481-139327501, 139327522-139327527, 139327631-139327634, 139327680, 139327686-139327697, 139329200, 139329298, 139329304, 139333060-139333072, 139333130-139333171, 139333178-139333212, 139333249-139333256, 139333306-139333314, 139333326, 139333345-139333351, 139333374-139333397, 139333412-139333443, 139333483-139333486, 139333501-139333529, 139333574-139333604, 139333620-139333649, 139333683-139333688, 139333697-139333750, 139333760, 139333764-139333798, 139333804-139333813, 139333847-139333855, 139333863-139333871
561NOTCH190.2766040688575955477668139390527-139390544, 139390585-139390622, 139390644-139390649, 139390667-139390671, 139390710-139390712, 139390758-139390853, 139390856-139390895, 139390906-139391014, 139391043-139391074, 139391077-139391107, 139391113, 139391129-139391178, 139391188-139391191, 139391210-139391377, 139391389-139391391, 139391400-139391437, 139391440-139391442, 139391450-139391478, 139391500-139391508, 139391513-139391567, 139391580-139391634, 139391636, 139391640-139391647, 139391656-139391712, 139391720-139391728, 139391744-139391745, 139391760-139391768, 139391784-139392010, 139393411-139393448, 139393564-139393629, 139393636-139393653, 139395004-139395057, 139395065-139395109, 139395123-139395163, 139395183-139395228, 139395250-139395256, 139395270-139395299, 139396200, 139396218-139396220, 139396226-139396276, 139396295-139396343, 139396453-139396455, 139396459, 139396463-139396466, 139396482-139396529, 139396724-139396746, 139396756-139396781, 139396814-139396851, 139396866-139396917, 139396925-139396940, 139397634-139397643, 139397649-139397651, 139397715-139397717, 139397755-139397782, 139399125-139399136, 139399154-139399156, 139399163, 139399170-139399210, 139399218, 139399233-139399280, 139399306-139399320, 139399337-139399381, 139399388-139399509, 139399539, 139399549, 139399552-139399556, 139399770-139399774, 139399789-139399791, 139399815, 139399840-139399889, 139399906-139399921, 139399931-139399962, 139399969-139400040, 139400052-139400092, 139400114-139400246, 139400282-139400304, 139400308, 139400323-139400333, 139400979-139401076, 139401088-139401090, 139401168-139401243, 139401254-139401260, 139401266-139401322, 139401332-139401366, 139401392-139401393, 139401396-139401425, 139401763-139401765, 139401773, 139401804, 139401811, 139401838-139401879, 139402407-139402448, 139402464-139402495, 139402510, 139402513-139402519, 139402533-139402534, 139402684-139402688, 139402701-139402736, 139402744-139402769, 139402832-139402837, 139403322-139403340, 139403357-139403437, 139403452, 139403456, 139403460-139403487, 139403499-139403501, 139404192-139404224, 139404264-139404287, 139404335-139404345, 139404376-139404378, 139404382-139404384, 139404387-139404388, 139405105-139405128, 139405158-139405175, 139405195-139405224, 139405246-139405257, 139405615-139405723, 139407473-139407509, 139407533, 139407541-139407585, 139407844-139407870, 139407880-139407920, 139407939-139407940, 139407943-139407947, 139407951-139407958, 139407973-139407989, 139408962-139408995, 139409001-139409097, 139409123-139409154, 139409743-139409821, 139409827-139409852, 139409935-139409984, 139410013-139410046, 139410052-139410065, 139410078, 139410089-139410100, 139410106-139410148, 139410159-139410168, 139410433-139410460, 139410488-139410505, 139410516-139410546, 139411724-139411837, 139412204-139412230, 139412247-139412334, 139412351, 139412355-139412389, 139412589-139412703, 139412710-139412741, 139412743, 139413043-139413057, 139413063-139413270, 139413895-139413959, 139413968-139413997, 139417302-139417365, 139417375-139417640, 139418169-139418431, 139438476-139438482, 139438500-139438554, 139440178-139440238
562AGPAT290.30585424133811581837139568204-139568260, 139568295, 139568303-139568331, 139568338-139568360, 139568372-139568379, 139569187-139569201, 139569253-139569259, 139571059-139571072, 139571081, 139571106-139571132, 139571413-139571421, 139571427-139571474, 139571508, 139571512, 139571516-139571543, 139571555-139571569, 139571875-139571911, 139571931-139572008, 139581628-139581809
563SLC34A390.548281800140127051-140127060, 140127143-140127155, 140127279, 140127282, 140127375-140127379, 140127477-140127486, 140127490-140127493, 140127546, 140127682, 140127750-140127752, 140127788, 140127797-140127799, 140128085, 140128101, 140128126-140128133, 140128138, 140128143-140128151, 140128156-140128162, 140128315-140128393, 140128561-140128663, 140128683-140128728, 140128868-140128877, 140128879-140128944, 140128952-140128984, 140129070-140129094, 140129103-140129139, 140130404-140130457, 140130466-140130489, 140130499-140130570, 140130587-140130619, 140130646-140130716, 140130767-140130857, 140130865-140130868
564EHMT190.819348216576857043897140513481-140513501, 140605438, 140605442-140605482, 140611078-140611634, 140622866-140622882, 140622908-140622923, 140622963-140622964, 140622968, 140622971, 140638488-140638489, 140638495-140638497, 140669577, 140669586, 140672444-140672450, 140708939-140708942, 140728956, 140729335-140729362
565SHOXX0.62002275312856334879591655-591899, 591907-591909, 595353-595360, 595363, 595390-595401, 595446, 595465-595500, 595513-595515, 595525-595549
566CSF2RAX0.5241379310344862113051401597-1401634, 1401653-1401662, 1401669-1401670, 1404671-1404713, 1404745-1404761, 1404790-1404791, 1404796-1404799, 1404811-1404813, 1407490, 1407777, 1409235-1409240, 1409287-1409328, 1409336-1409371, 1409394-1409402, 1413221-1413354, 1414320-1414333, 1414349, 1419384-1419390, 1419420-1419519, 1422154-1422255, 1422816-1422828, 1422858-1422876, 1422893-1422894, 1424340-1424341, 1424351, 1424386, 1428295-1428304, 1428337
567KAL1X0.9990210474792220438699974-8699975
568PHKA2X0.9902912621359236370818912379-18912380, 18912418-18912429, 18912455-18912461, 18917291, 18924655-18924668
569SMSX0.99364214350597110121958952-21958958
570ARXX0.9650680876258159168925031530-25031560, 25031564-25031570, 25031654-25031667, 25031671-25031674, 25031777-25031779
571RPGRX0.86065336802544482345938145055-38145060, 38145127-38145138, 38145211-38145231, 38145277-38145381, 38145393-38145455, 38145459-38145460, 38145477-38145687, 38145704-38145715, 38145718, 38145814-38145815, 38145818-38145819, 38145824, 38145848, 38145852, 38145859-38145865, 38145882-38145898, 38146008, 38146018, 38146125-38146136, 38146254-38146257
572BCORX0.999810174639331526839932051
573NYXX0.9723374827109340144641333101-41333110, 41333329-41333342, 41333347-41333349, 41333374, 41333409-41333420
574RP2X0.996201329534664105346713006-46713009
575ARX0.997828447339856276366765159-66765164
576MED12X0.9951025405570932653470360647, 70361094-70361124
577TAF1X0.9966561070045819568270586184-70586202
578SOX3X0.9821029082774241341139586143-139586151, 139586475-139586478, 139586482-139586483, 139586497-139586498, 139586501, 139586692-139586697
579FAM58AX0.9442176870748341735152864438-152864439, 152864473-152864480, 152864483-152864513
580SLC6A8X0.885744234800842181908152954030-152954079, 152954104-152954154, 152954183-152954283, 152955944, 152955950, 152959380-152959393
581ABCD1X0.96246648793566842238152990797-152990803, 152990860-152990868, 152990943-152990949, 152990957-152990959, 152990966-152990968, 152991011, 152991176-152991177, 152991185-152991191, 152991536, 153001566-153001568, 153008473-153008486, 153008675-153008678, 153009041-153009063
582L1CAMX0.9997350291467913774153135513
583MECP2X0.97595190380762361497153363086-153363121
584OPN1MWX0.98264840182648191095153455583-153455601
585OPN1MWX0.98264840182648191095153492701-153492719
586FLNAX0.984642497482381227944153581481-153581485, 153581685-153581688, 153581738-153581756, 153585928, 153585934-153585937, 153588401-153588420, 153588862-153588868, 153589773-153589792, 153590793-153590794, 153596019-153596021, 153596264, 153596267, 153599241, 153599406-153599413, 153599549-153599572, 153599583-153599584
587EMDX0.9594771241830131765153608064-153608081, 153608086, 153608089, 153608101-153608103, 153608106-153608113
588TAZX0.994930291508244789153640209-153640212
589G6PDX0.96336996336996601638153760296-153760300, 153760632, 153760640-153760653, 153760911-153760931, 153761239-153761242, 153761866-153761867, 153761870-153761873, 153763395-153763403
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhomozygous0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5PARK2-R275Whet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5WNT10A-F228Ihet unknown0.019Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SCNN1B-S82Chet unknown0.006Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.481 (possibly damaging), Testable gene in GeneTests
2NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
2NPHS1-R408Qhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
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
2APOB-LAL12Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-T244Ihomozygous0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5SLC9A3R1-L110Vhet unknown0.014Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5TPMT-Y240Chet unknown0.046Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1.5TPMT-A154Thet unknown0.028Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.667 (possibly damaging)
1.5PRF1-A91Vhet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5EDN1-K198Nhomozygous0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (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)
1.125RYR2-G1886Shet unknown0.061Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCARF2-A832Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TTR-T139Mhet unknown0.002Dominant
protective
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLAC4-L104ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EGFR-R521Khomozygous0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RYR1-Q3756Ehet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RYR1-VH4426MDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1ICAM1-G241Rhomozygous0.075Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.948 (probably damaging)
1ICAM1-K469Ehomozygous0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEPT9-P145Lhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HPS1-V4Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.827 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1B3GNT6-A191Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC22A1-R61Chet unknown0.057Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1SLC22A1-L160Fhet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT10-G565GGYGGGSSSGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-H487YGGGSSGGGYhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RYK-P22Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y48Fhomozygous0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-KF76RLhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79DelhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Lhomozygous0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S233Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D167GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-D4637Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-C4021Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CCDC66-D5ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1CCDC66-E592Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-DPB1-LF37VYhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-DPB1-G40Lhomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-DPB1-E62Qhomozygous0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
1HLA-DPB1-F64Yhomozygous0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1HLA-DPB1-I94Lhomozygous0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-DPB1-K98Rhomozygous0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-DPB1-G113Dhomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-DPB1-GP114EAhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-DPB1-M116Vhomozygous0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-DPB1-R125Khomozygous0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-DPB1-T199Ihomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
1HLA-DPB1-*259ShifthomozygousUnknown
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
1CPOX-R352Chet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-Q1923Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-N830Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1STXBP2-T345Mhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ZNF81-A3VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COL4A3-G43Rhomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL4A3-D326Yhomozygous0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL4A3-D1269Ehet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.583 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GSTM1-K173Nhomozygous0.264Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-R594Qhet unknown0.040Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1MFN2-G298Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1HRNR-G1348Shomozygous0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-L1397Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-R513Khet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCB-G335Ehomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
1CACNA1S-R1658Hhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-A69Ghet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SIX5-P635Shomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP2B6-Q172Hhomozygous0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
1CYP2B6-K262Rhomozygous0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAM3A-G372ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAM3A-L329ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAM3A-R215GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DMPK-T544Mhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DMPK-L423Vhomozygous0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RHD-I60LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-S103Phomozygous0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RHD-I172FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-E233QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-V238MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-V245Lhomozygous0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-K267MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RHD-V306IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-Y311ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-G314VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-P323HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-I342ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-M379Thomozygous0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-E398VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLFN13-K658Nhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLFN13-E652Khomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN13-D642Vhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.216 (possibly damaging)
0.5SLFN13-A523Thomozygous0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5SLFN13-S235Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.888 (probably damaging)
0.5GPATCH8-C1161Whet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TOP3A-L584Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-D693Nhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-Q356Rhet unknown0.046Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-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-A84Thet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.5FANCA-M717Ihet unknown0.022Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-C625Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-R163Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF18-F476Lhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ABCC1-G671Vhet unknown0.044Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V810Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC4-R415Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTSL3-H146Rhet unknown0.564Unknown
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
0.5AGBL1-R112Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5AGBL1-Q1010Rhomozygous0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GKN2-D65Yhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PER1-A962Phomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.212 (possibly damaging)
0.5PER1-P37Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5PEX13-L360Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAT1-R377Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-D1264Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOH-W335Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5APOH-V266Lhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5APOH-R154Hhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5APOH-I141Thet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALNT2-R183Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5NRTN-R158Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NRTN-C164Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF114-R244Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.917 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-K307Nhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG2-V158Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG2-I293Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EMP3-I125Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.878 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRKCSH-A291Thomozygous0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5PRKCSH-V424Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP2A7-V479Ghet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-R311Chet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CYP2A7-S294Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP2A7-H274Rhet unknown0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5CYP2A7-D169Ehet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.46 (possibly damaging)
0.5CYP2A7-S153Ahet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-C64Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-F61Ihet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TGFB1-P10Lhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CACNA1A-P996Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E992Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E917Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC8-K507Nhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5CCDC8-D381Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.759 (possibly damaging)
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM125A-D249Nhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PLEKHA4-S20Yhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5TSKS-E167Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.813 (possibly damaging)
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
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNG1-G196Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5CA4-V234Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZBTB45-D293Ehet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GP6-F606Lhet unknown0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-R573Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-P404Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GP6-K323Thomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-P314Ahet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.121 (benign)
0.5GP6-A249Thet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-E237Khet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-P219Shomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA5-P293Shet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5TSEN54-V190Mhet unknown0.041Unknown
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
0.5NAPSA-A310Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5ABCA8-C1244Yhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-E453Qhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), 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
0.5ZNF880-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
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF23-T51Ihet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.898 (probably damaging)
0.5SLC29A3-R18Ghomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhomozygous0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5ANXA11-R191Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ABCC2-I1036Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDE6C-S270Thomozygous0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5RET-G691Shomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.5AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-L2879Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-L2153Fhet unknown0.122Unknown
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-A1202Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5BTRC-A543Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-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
0.5EIF3F-P39Lhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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)
0.5HPS5-L417Mhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CCDC34-N298Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5CCDC34-P53Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.508 (possibly damaging)
0.5SLC6A5-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-K457Nhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), 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
0.5TRIM22-D155Nhet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5TRIM22-R242Thomozygous0.511Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TRIM22-R321Khet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5TRPM5-R908Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRPM5-M870Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRPM5-V335Lhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5GFRA1-T366Ahet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.707 (possibly damaging)
0.5GFRA1-Y85Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5PNLIPRP3-S179Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PNLIPRP3-V381Ihomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNLIPRP3-R382Ghomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FANK1-L329Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK160367-D257Ehomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-M356Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-V377Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OBSCN-Q502Rhet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-A908Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-A1532Vhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OBSCN-D2106Ehomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-F2116Lhomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-V2720Mhet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.839 (possibly damaging)
0.5OBSCN-A3300Thet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.552 (possibly damaging)
0.5OBSCN-G3780Rhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OBSCN-G4039Rhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5OBSCN-H4381Rhomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-R4516Whomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.65 (possibly damaging)
0.5OBSCN-S4642Chomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-D4962Ghomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-L5269Vhomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5OBSCN-Q5891Ehomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYDE2-V1157Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-V569Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-S422Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5SYDE2-Q175Phet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MSH4-A97Thet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MSH4-Y589Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5AKR1A1-N52Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5COL9A2-V581Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL9A2-Q326Rhomozygous0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZBTB48-S675Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.711 (possibly damaging)
0.5ANGPTL7-Q175Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-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
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-R623Phet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNAT2-V124Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview
0.5CFHR5-R356Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.701 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghomozygous0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAV1-D487Nhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5NAV1-S1270Lhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTPN7-R37Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPS8L3-M35Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5NGF-A35Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.5NDUFS2-P352Ahet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5NCF2-P454Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NCF2-H389Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NCF2-K181Rhomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IER5-E103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-V168Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-P285Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RAG1-H249Rhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAG1-K820Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TAS1R1-K347Ehomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAS1R1-R507Qhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.414 (possibly damaging)
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
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PUS1-P43Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5PUS1-S48Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GOLGA3-T354Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GOLGA3-P264Lhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.5GOLGA3-G70Ehet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SACS-P2798Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SGCG-R116Hhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GMPR2-G242Dhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5OCA2-R419Qhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TRPM1-N1229Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-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
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-M942Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIPA1L1-P56Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.679 (possibly damaging)
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
0.5HEATR4-R191Chet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACADS-R171Whet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.587 (possibly damaging), Testable gene in GeneTests
0.5ALKBH8-D653Yhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ATM-N1983Shomozygous1.000Unknown
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
0.5WNK1-A141Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLB1L2-G203Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whet unknown0.222Unknown
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
0.5CCDC87-L738Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5SLC25A45-R285Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5SLC25A45-M224Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-R1399Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CLEC1A-R234Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CLEC1A-G26Ahomozygous0.886Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ACAD10-A911Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OAS3-R18Khet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OAS3-R65Whet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DDX54-P822Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX54-R693Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5RASAL1-R321Hhet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RASAL1-T58Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RASAL1-V11Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5KRT6B-I365Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-I723Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF21A-E1224Dhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5COL2A1-V1331Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DIP2B-R484Whet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5MLL2-S4010Phet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-R83Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HRC-S96Ahet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.195 (benign)
0.5HRC-R88Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5HRC-S43Nhet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHA5-N81Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EVC-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-A559Thet unknownUnknown
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
0.5JRK-L543Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JRK-R499Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JRK-T30Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFHX4-P2016Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZFHX4-P2424Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CNGB3-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
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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)
0.5CCT6A-Y229Chet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MUC20-D322Hhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC20-T345Shifthet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MUC20-V483Mhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCRIB-H1217Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5SCRIB-V674Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SCRIB-P422Lhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IFNA17-I184Rhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IFNA17-H57Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIAA1407-E696Dhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5KIAA1407-R374Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5WDR52-P745Lhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5WDR52-K284Nhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR52-K53Ehet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIDT1-V78Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.96 (probably damaging)
0.5SIDT1-T363Ihet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IFNA16-IA132TPhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IFNA16-T124Ihet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA16-D95Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.726 (possibly damaging)
0.5IFNA16-V65Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA16-I47Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5PLEC-S2791Phomozygous0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC2A2-T110Ihomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5CP-T551Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.915 (probably damaging)
0.5CP-E544Dhomozygous0.851Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-V71Mhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-H-D19Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-Q61Rhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-I69Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF389-R61*het unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SH3TC2-A468Shomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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-N1985Dhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), 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-S2764Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-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
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-E1535Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPINK5-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
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP3A7-V71Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-E846Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP3A43-M275Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBXL21-N31Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL21-H76Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-N200Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MBLAC1-S43Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TBXAS1-E161Dhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBXAS1-E450Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGL1-Y140Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FGL1-I72Vhomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5FGL1-T15Ihomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB4-T175Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ODZ2-D410Ghet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.863 (probably damaging)
0.5SFTPC-T138Nhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFTPC-S186Nhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB3-W64Rhet unknown0.085Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.753Unknown
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
0.5FAM160A1-P994Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCB8-R304Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCB8-G710Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-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-A761Vhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UFSP2-K103Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5AK131516-A39Phet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK131516-R31*het unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-W1837Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-T120Mhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABL1-S972Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-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-V1518Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CDK5RAP2-R1045Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-G1022Ehet unknown0.029Unknown
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
0.5PLG-D472Nhomozygous0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KBTBD8-F179Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5OBSL1-R1767Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.702Unknown
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
0.5DFNB31-N796Khomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.412Unknown
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-M613Thomozygous0.492Unknown
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-A440Thomozygous0.182Unknown
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
0.5ASTN2-G791Dhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LMBRD1-D469Ehomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (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
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MERTK-S118Nhet unknown0.223Unknown
not reviewed
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
0.5MERTK-V870Ihet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTL-A133Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RGPD4-D761Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RGPD4-Q1169Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GGCX-R325Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5HTR2C-C23Shomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
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-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DBH-A318Shet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RSPH4A-R556Hhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.626Unknown
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
0.5ARRDC1-N287Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ARRDC1-G363Chet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.177 (benign)
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CSRP2BP-V400Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CSRP2BP-P600Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5ALG12-I393Vhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NOTCH4-C815Ghet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NOTCH4-K117Qhomozygous0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNXB-P2731Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM75D1-P196Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS9-A455Thomozygous0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCD2-G901Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLB1-S532Ghet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-C521Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-P10Lhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ERC2-N542Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.212 (possibly damaging)
0.5SKIV2L-Q151Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIV2L-M214Lhet unknown0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIV2L-V917Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SKIV2L-A1071Vhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IFNA1-V10Ahet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TNXB-W458Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R48Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN2-R126Hhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM43-K168Nhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM43-M179Thomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T400Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A568Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-D1640Ghet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC14L4-R122Whet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RNF183-Q114Rhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF183-R85Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RNF183-A82Thet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STK4-P416Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SEC23B-V426Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SEC23B-H489Qhomozygous0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CRNKL1-T158Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CRNKL1-Q111Hhet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CRNKL1-F51Lhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.497 (possibly damaging)
0.5CRNKL1-Q50*het unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CRNKL1-G35Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-V1674Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-C887Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTC3-M840Thomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-R1074Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTC3-D1751Hhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.375MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MUT-M375Ihet 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-V536Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.375VPS13B-N1610Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SARDH-M648Vhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.375SARDH-E372Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A3-A2730Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-S1547Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAAT-R201Phet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM75C1-T530Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-Q1141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BC011779-Q186*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BC011779-L30PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-A21Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM166B-Y241Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM166B-R30Whet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EHBP1L1-V133Lhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EHBP1L1-S154Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EHBP1L1-S418Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EHBP1L1-V421Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EHBP1L1-V538Ghet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.25EHBP1L1-D569Vhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25FNBP1-S490Nhomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FNBP1-N328Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AEBP1-E288Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AEBP1-K1133Ehet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NPC1L1-SY653RDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NPC1L1-S653Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25OR2T29-Q18Rhet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25OR2T29-Q18Rhet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-R95Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NAPEPLD-D389Nhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25NAPEPLD-S152Ahet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAPEPLD-N79Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNN-R79Ghet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNN-R407*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TNN-W807Rhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.104 (benign)
0.25TNN-P930Lhet unknown0.623Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RHBG-V143Dhomozygous0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RHBG-G315Rhomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RHBG-D425Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RHBG-H428Rhomozygous0.637Unknown
not reviewed
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
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
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
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.25USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-I1665Thet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.25USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LSP1-Q108Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LSP1-R243Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
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
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CRELD1-M13Vhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CRELD1-Q347*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N1330DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R849Hhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-V183Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD11-A971Vhet unknown0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD11-E734Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKRD11-L254Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYO15A-P934Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25MYO15A-C1977Rhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, 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
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR6-T255Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTDP1-S61Ahet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25NLRP7-A481Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-A2872Thomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
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
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNRD2-S299Rhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TXNRD2-W80*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TXNRD2-A66Shet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FUT5-H334Rhomozygous0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FUT5-P312Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25CPO-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
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
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)
0.25GM2A-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
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T204Rhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25FAM55B-N351Ihet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25FANCE-A502Thet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CELA1-Q243Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-R44Whet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-Q10Hhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.463 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PALB2-Q559Rhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25SCLT1-W591Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCLT1-E354Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR3C2-V180Ihet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HS3ST6-L285Vhet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HS3ST6-A161Thet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HS3ST6-A132Vhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HS3ST6-Q61Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCD4-E583Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCD4-E368Khet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCD4-A304Thet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM81B-Q144*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FAM81B-P275Shomozygous1.000Unknown
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
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
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
0.25SLC28A2-L462Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25INSM2-D206Ghomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25INSM2-P211Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0CLEC7A-Y238*het unknown0.063Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0BTD-D444Hhet unknown0.030Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0SLC4A1-E40Khet unknown0.012Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0LFNG-D355Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,771,880,158 bases (97.0% of callable positions, 90.0% of total positions)

Coding region coverage: 31,926,170 bases (95.9% of all genes, 96.7% 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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