huD7960A - GET-Evidence variant report

Variant report for huD7960A

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1WNT10A-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
2C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
3COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
4MTRR-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
5AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
6ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Homozygous
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
7RET-R982CLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.016174Initially suspected of causing Hirschsprung’s disease, this rare variant has been later reported as present in unaffected controls (allele frequency around 1%). Supporting a lack of effect: Panini et al. did not find loss of function effects seen in other variants, and Svensson et al. report unaffected relatives in a family who carried the same variant. OMIM lists it as reported to cause increased susceptibility, but there do not appear to be any statistically significant reports supporting this hypothesis.1
8ELAC2-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
9POLG-Q1236HLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0581893Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.1
10CPN1-G178DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0356014This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function.1
11DYX1C1-E417XLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.20147One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.1
12TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
13WFS1-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
14ELAC2-A541TLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.0276074This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer".1
15SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
16FUT2-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
17PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
18CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
19TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
20KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
21NEFL-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
22MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
23ALOX12B-P127SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.0167317This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP.1
24APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
25RNASEH2B-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
26MAPT-Q230RLowUncertainUncertain benign

Unknown, Heterozygous
0.0420019Common polymorphism.1
27AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
28WFS1-R456HLowUncertainUncertain benign

Unknown, Heterozygous
0.0454545Reported benign in ClinVar1
29GALT-N314DLowUncertainUncertain benign

Unknown, Heterozygous
0.0716676This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).1
30TAS2R38-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
31MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
32FLG-R3530SLowUncertainUncertain benign

Unknown, Heterozygous
0.108849Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause ichthyosis vulgaris in a recessive manner.1
33F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
34F5-D2222GLowUncertainUncertain benign

Unknown, Heterozygous
0.0448968Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.1
35PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
36PTCH1-P1315LLowUncertainUncertain benign

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

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

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
39SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
40TYR-S192YLowUncertainUncertain benign

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

Exome coverage: 31678601 / 33282720 = 95.18%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.3098729227761542366138955553-955753, 957581-957640, 957650-957652, 957662-957671, 957701-957842, 970657-970704, 976057-976137, 976150-976162, 976182-976260, 976553-976777, 976865-976928, 976938-976975, 976988, 976996, 977081-977082, 977346, 977350, 977361-977365, 977375, 977380-977381, 977383, 977409-977455, 977462-977467, 977480-977485, 977493-977495, 977497-977501, 977511, 977532-977542, 978624-978647, 978682, 978685-978754, 978760, 978775-978776, 978780-978819, 978830-978837, 978918-978972, 978990-979112, 979251-979403, 979489-979504, 979545-979593, 979602-979612, 979621-979622, 979632-979633, 979637, 979714-979733, 979760-979798, 979814, 980541-980571, 980583-980627, 980638-980657, 980739-980781, 980789-980810, 980885-980893, 981113-981150, 981155, 981197-981229, 981239-981256, 981347-981420, 981451-981456, 981540-981567, 981612-981619, 981634-981645, 981788-982067, 982089-982115, 982200-982238, 982250-982261, 982264-982317, 982324-982337, 982707-982756, 982780, 982804-982834, 982985-982986, 982993-982994, 983001, 983012-983013, 983017-983018, 983021, 983176-983195, 983235-983275, 983418-983472, 983480-983496, 983507-983745, 984247-984380, 984402-984439, 984616-984619, 984630-984772, 984783, 984796-984801, 984827-984831, 984946-984974, 985002-985013, 985024-985037, 985045, 985066-985086, 985094-985137, 985146-985175, 985283-985294, 985303, 985313-985399, 985409-985417, 985614-985621, 985625-985627, 985634-985635, 985648, 985652, 985695, 985709, 985828-985845, 985852-985910, 986133-986149, 986156-986217, 986633-986642, 986662-986749, 986833-986921, 986936-986952, 986987-987025, 987108-987157, 987177-987191, 989146-989150, 989158, 989169-989199, 989217-989262, 989287, 989294, 989312-989338, 989348-989354, 989844-989854, 989874, 989892-989904, 989909-989916, 990204-990233, 990260, 990280, 990306-990313, 990344-990361
2GABRD10.5695364238410658513591950863-1950930, 1956394, 1956413-1956416, 1956452-1956493, 1956773-1956784, 1956818, 1956957-1956975, 1957024-1957047, 1957057-1957070, 1957074, 1957134-1957162, 1957177, 1959090-1959093, 1959594-1959639, 1960550-1960568, 1960574-1960585, 1960588, 1960591-1960606, 1960670, 1960683-1960685, 1960997-1961081, 1961127-1961152, 1961167-1961188, 1961424-1961510, 1961550-1961590, 1961618-1961620, 1961630, 1961666, 1961681
3PEX1010.756371049949032399812337264-2337273, 2337923-2337936, 2337946-2337969, 2338160-2338186, 2338250-2338270, 2340001-2340018, 2340036-2340047, 2340150, 2343830-2343941
4NPHP410.9616911936463416442815923964-5923966, 5923977-5923978, 5924572, 5925271, 5947404-5947409, 6038330-6038473, 6046340-6046346
5ESPN10.7228070175438671125656485016-6485191, 6485212-6485291, 6485304-6485309, 6488301-6488336, 6488347-6488384, 6488426-6488432, 6488461-6488479, 6500368, 6500389, 6500397, 6500411-6500442, 6500457-6500492, 6500690-6500733, 6500741-6500802, 6500858-6500868, 6500994, 6500997, 6501023-6501065, 6505732-6505738, 6505838-6505857, 6505914-6505937, 6508744, 6508749, 6508754-6508755, 6508763, 6508835-6508857, 6508925, 6509072-6509086, 6511703-6511709, 6511953-6511959, 6512127-6512133
6PLEKHG510.985261837566644731896531094-6531096, 6531099, 6532657-6532658, 6533412-6533417, 6534551-6534553, 6534556, 6534636-6534638, 6534645, 6535166-6535171, 6556553, 6556564, 6556569-6556583, 6557380-6557383
7PEX1410.9365079365079472113410684437-10684452, 10689678, 10689785-10689798, 10689887, 10689894-10689903, 10689998-10690021, 10690039-10690044
8TARDBP10.994377510040167124511082356-11082362
9MASP210.92964580300825145206111087245-11087246, 11090903, 11090914-11090916, 11094885, 11102939, 11102950-11102962, 11103403-11103412, 11103437-11103456, 11103505-11103515, 11103563, 11103571, 11103575, 11105473, 11105477-11105489, 11105506, 11105566-11105568, 11105572, 11105578-11105592, 11106642, 11106750-11106777, 11106968, 11107012-11107014, 11107018, 11107170-11107176, 11107260-11107264
10PLOD110.9826007326007338218412009839-12009846, 12023642-12023645, 12023664-12023674, 12024235, 12024734-12024737, 12024834, 12026348-12026355, 12030761
11MFN210.9907651715039621227412066730-12066750
12CLCNKA10.90891472868217188206416353834, 16354391-16354397, 16355632-16355636, 16356249-16356256, 16356472-16356476, 16356497, 16356518-16356542, 16356548-16356570, 16356956-16356965, 16356985-16357028, 16357097-16357119, 16357144-16357150, 16358294, 16358737-16358763, 16360107
13CLCNKB10.9631782945736476206416377999-16378000, 16378215, 16378735-16378761, 16378780-16378809, 16378881-16378887, 16380223-16380224, 16382174-16382180
14ATP13A210.97092859158905103354317312743, 17312762, 17312793, 17312796, 17312826, 17313598-17313637, 17313654, 17314941-17314945, 17314955-17314956, 17322575-17322581, 17322592-17322602, 17322921, 17323619-17323620, 17323651-17323659, 17326555-17326556, 17326623-17326637, 17327028-17327029, 17338233
15PINK110.9856815578465125174620960044, 20960064-20960065, 20960173-20960191, 20960315-20960317
16HSPG210.971387370977533771317622149829, 22149858, 22149861, 22149925-22149935, 22150120, 22150153-22150182, 22150614-22150615, 22150817-22150833, 22151030-22151052, 22151068, 22151258-22151260, 22154389, 22154752-22154753, 22155428, 22155508-22155527, 22155963-22155965, 22167656-22167658, 22168089, 22168140, 22169880, 22170752-22170755, 22174451-22174453, 22174526, 22174540-22174543, 22175406, 22175520-22175524, 22176912, 22178104, 22178325-22178347, 22178356-22178376, 22179250-22179257, 22179519-22179522, 22181393-22181394, 22181397-22181427, 22181849-22181852, 22182037-22182046, 22182055, 22186060-22186062, 22186152-22186157, 22186348, 22186351-22186354, 22186417-22186425, 22186674, 22186715, 22191454, 22191502, 22191544-22191566, 22191818, 22192214-22192215, 22199142, 22199161, 22199165, 22199245, 22199507-22199515, 22263648-22263710
17WNT410.915719696969789105622456129-22456140, 22469339-22469415
18FUCA110.9443254817987278140124194418-24194432, 24194443-24194445, 24194456, 24194482-24194500, 24194611, 24194691-24194710, 24194716, 24194741-24194743, 24194746-24194749, 24194753-24194763
19LDLRAP110.961165048543693692725870198-25870225, 25870231-25870236, 25870260, 25870263
20SEPN110.88968824940048184166826126722-26126904, 26137972
21KCNQ410.87547892720307260208841249766-41249790, 41249798-41249842, 41249854-41249948, 41249955-41249960, 41249986-41250025, 41250036-41250040, 41250044, 41284258-41284300
22LEPRE110.9900497512437822221143215947-43215954, 43232400-43232404, 43232440, 43232451-43232458
23SLC2A110.9878296146044618147943424305-43424322
24EIF2B310.999264164827081135945407182
25POMGNT110.999495713565311198346663416
26DHCR2410.9890393294648617155155352590-55352606
27PCSK910.9961519961528207955521743-55521747, 55524273-55524275
28COL11A110.9985339930364785457103364256-103364257, 103364262-103364266, 103364326
29GSTM110.54946727549467296657110230496-110230531, 110230792-110230796, 110230839, 110230844, 110230863-110230867, 110231295-110231297, 110231302, 110231308, 110231677-110231682, 110231698, 110231714, 110231717-110231726, 110231741, 110231859, 110231877-110231947, 110232893-110232946, 110232962-110232988, 110233076-110233145, 110233180
30NOTCH210.9908306364617687416120539665-120539714, 120539916, 120548025, 120548030, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120572609-120572610, 120611960, 120611964
31FLG10.89545379944198127412186152276441-152276493, 152276550, 152276583, 152276598, 152276616, 152276626, 152276668-152276674, 152276871, 152276889, 152277052-152277087, 152277103-152277109, 152277165-152277171, 152277396, 152277427-152277473, 152277717, 152277780, 152277881-152277887, 152278431-152278437, 152278689, 152279275-152279281, 152279403-152279409, 152279633-152279634, 152279747-152279784, 152279890-152279892, 152279920, 152280029-152280035, 152280147-152280152, 152280237, 152280347, 152280372, 152280468-152280474, 152280570-152280617, 152280864, 152280900, 152281287-152281326, 152281461-152281479, 152281513-152281560, 152281573, 152281632-152281638, 152281690, 152281692-152281694, 152281768-152281793, 152281854-152281880, 152281917, 152281938, 152281981-152281994, 152282085-152282130, 152282241-152282254, 152282267, 152282280-152282287, 152282296, 152282577, 152282826-152282874, 152283134-152283140, 152283265-152283287, 152283347-152283389, 152283510-152283530, 152283657-152283665, 152283674-152283711, 152283910-152283918, 152283970-152283989, 152284041-152284082, 152284140-152284155, 152284163-152284217, 152284241-152284280, 152284328-152284334, 152284361-152284380, 152284447-152284481, 152284607-152284632, 152284728, 152284831-152284857, 152284939-152284946, 152284996-152285023, 152285030-152285074, 152285116-152285140, 152285185-152285213, 152285289, 152285294, 152285401-152285405, 152285437-152285456, 152285531-152285544, 152285577, 152285581-152285582, 152285604, 152285872-152285878, 152285930, 152285981-152285984, 152285987, 152286002, 152286013-152286017, 152286121-152286126, 152286135, 152286310-152286313, 152286360-152286361, 152286366-152286367
32PKLR10.9971014492753651725155269989-155269993
33NTRK110.97741530740276542391156830727-156830751, 156830761-156830779, 156830788-156830797
34SLC19A210.9993306559571611494169454966
35F510.99550561797753306675169510337-169510351, 169510472-169510486
36DARS210.9974200206398351938173814367-173814371
37NPHS210.9991319444444411152179544869
38LHX410.9940323955669271173180199685-180199689, 180199692, 180199699
39CFH10.9883658008658433696196716353-196716395
40CFHR110.997985901309162993196801042, 196801078
41ADCK310.97993827160494391944227152819-227152827, 227153421-227153423, 227169773, 227169833-227169836, 227170692, 227171274-227171278, 227171485-227171491, 227172962-227172963, 227174428-227174434
42GJC210.243939393939399981320228345468-228345509, 228345551-228345598, 228345656-228345700, 228345726, 228345744, 228345755-228345864, 228345878, 228345891-228346048, 228346062, 228346075, 228346085, 228346094-228346155, 228346176-228346213, 228346225-228346252, 228346271-228346715, 228346726-228346733, 228346772-228346779
43ACTA110.94532627865961621134229567826, 229567863-229567864, 229567916-229567932, 229568017-229568020, 229568027-229568034, 229568072-229568090, 229568149, 229568175, 229568320-229568324, 229568328-229568330, 229568409
44LYST10.99991232684552111406235944245
45RYR210.99993290391841114904237729981
46GATA3100.99850187265918213358100726-8100727
47PTF1A100.683890577507631298723481522-23481526, 23481623-23481675, 23481685-23481731, 23481741-23481743, 23481753-23481781, 23481795-23481814, 23481834-23481869, 23481875-23481890, 23481894, 23481897, 23481904-23481905, 23481910, 23481913-23481941, 23481963-23482001, 23482031-23482060
48PDSS1100.9687539124826986650-26986671, 26986710-26986726
49RET100.96113602391629130334543572707-43572763, 43600457-43600464, 43600511-43600556, 43600580-43600581, 43600590, 43600593-43600608
50CHAT100.9951045838896311224750822349, 50822354, 50822366-50822367, 50822482-50822488
51EGR2100.994409503843478143164573357-64573364
52NODAL100.999042145593871104472201342
53CDH23100.99015513126492991005673437310, 73439158-73439162, 73439193-73439203, 73442208-73442227, 73447461-73447476, 73464769-73464776, 73464798-73464801, 73464866, 73464883-73464885, 73468935, 73490274, 73537505, 73571735-73571736, 73572245-73572251, 73574807, 73574810-73574811, 73574850-73574864
54LDB3100.93406593406593144218488428481-88428482, 88466321-88466327, 88466337, 88466347-88466397, 88476132-88476209, 88476276, 88476439, 88476468, 88476471, 88476476
55BMPR1A100.995622263914957159988683143-88683149
56GLUD1100.94036970781157100167788854151-88854152, 88854155-88854156, 88854159, 88854349-88854361, 88854445-88854526
57PLCE1100.999565783760313690996006367-96006369
58HPS1100.95773979107312892106100177340-100177350, 100177361-100177403, 100177419-100177420, 100177427-100177429, 100177477-100177483, 100177944-100177952, 100177959, 100177996, 100182211, 100189334-100189337, 100189342, 100189355, 100190340-100190344
59FBXW4100.9991928974979811239103454377
60HPS6100.9914089347079202328103825281-103825285, 103825288-103825289, 103825296, 103825386-103825390, 103825493, 103825684-103825686, 103826056-103826058
61SUFU100.99106529209622131455104263996-104264008
62COL17A1100.9993324432576834494105793805-105793807
63BAG3100.99016203703704171728121411306, 121411352-121411367
64HTRA1100.753291753291753561443124221169-124221407, 124221414-124221446, 124221463-124221536, 124221614-124221620, 124221625-124221627
65HRAS110.8543859649122883570532665-532687, 532710-532736, 533599-533602, 533851-533856, 533869-533872, 533882-533885, 533934-533943, 534310-534314
66TALDO1110.94181459566075591014747552-747572, 763344-763371, 763403-763404, 763412, 763416, 763426, 763447-763451
67SLC25A22110.57407407407407414972791940-791978, 791988-792014, 792045-792068, 792150-792151, 792154-792187, 792208-792217, 792340-792347, 792357-792360, 792379-792380, 792384-792397, 792423-792430, 792456-792457, 792553-792572, 792586-792676, 792711, 792715, 792719-792721, 792725, 792870-792879, 792885-792889, 792905-792920, 792935, 792941, 792951-792955, 792962-792982, 792985-792988, 793529-793556, 793607, 794776-794803, 794842, 794997, 795006
68PNPLA2110.730033003300334091515819719-819755, 819764-819793, 819809-819813, 819829-819837, 819840-819854, 819858-819905, 821804, 821822-821827, 822472, 823728-823733, 823807-823843, 823849-823855, 823998-824007, 824032-824068, 824084-824087, 824120, 824354, 824390-824434, 824523-824534, 824561-824565, 824641-824657, 824705-824751, 824816, 824820-824845, 824862
69CTSD110.8555286521388217912391774865, 1774871, 1774886-1774900, 1775131, 1775276-1775282, 1775309-1775324, 1775356-1775368, 1778579-1778605, 1780235-1780276, 1782539-1782552, 1785028, 1785035-1785038, 1785044-1785076, 1785086-1785089
70TNNI2110.91803278688525455491861458-1861468, 1861648-1861660, 1861760, 1861860-1861868, 1862312-1862319, 1862363-1862364, 1862374
71TNNT3110.335907335907345167771944785-1944786, 1944789, 1946329-1946334, 1946338-1946339, 1947933-1947939, 1951040-1951047, 1953711-1953715, 1954951-1954973, 1954984-1955067, 1955161-1955227, 1955237-1955238, 1955562-1955620, 1955640-1955675, 1955776-1955842, 1955859-1955885, 1956059-1956070, 1956096-1956127, 1958193-1958233, 1959668-1959685, 1959699, 1959707-1959722
72IGF2110.420534458509144127112154217-2154281, 2154296, 2154299-2154308, 2154314-2154315, 2154319-2154323, 2154336-2154339, 2154343, 2154350-2154351, 2154359-2154362, 2154365, 2154378-2154393, 2154407-2154451, 2154769-2154791, 2154802-2154850, 2154872-2154895, 2156611, 2156619-2156621, 2156637-2156679, 2156741-2156744, 2161365-2161387, 2161403-2161440, 2161453-2161500
73TH110.17650793650794129715752185463-2185622, 2186472-2186519, 2186530-2186544, 2186557-2186562, 2186567-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189132, 2189141-2189163, 2189337, 2189374-2189397, 2189726-2189729, 2189739-2189741, 2189747-2189766, 2189776-2189868, 2190886-2190949, 2190961-2190982, 2190999-2191100, 2191920-2192000, 2192932-2192938, 2192947, 2192958
74KCNQ1110.8148695224027637620312466329-2466676, 2466686, 2466713, 2592566-2592589, 2592630, 2608816
75CDKN1C110.17139852786547889512905234-2905236, 2905280-2905301, 2905304-2905330, 2905348-2905364, 2905900-2906258, 2906273-2906505, 2906512-2906540, 2906557-2906566, 2906578-2906579, 2906584-2906624, 2906627, 2906649-2906657, 2906671-2906705
76SMPD1110.993670886075951218966411931-6411942
77SBF2110.99963963963964255509812124-9812125
78ABCC8110.9955752212389421474617498233, 17498236, 17498305-17498323
79WT1110.9453024453024585155432449502-32449510, 32456596-32456597, 32456615-32456664, 32456694, 32456728-32456750
80ALX4110.997572815533983123644286493, 44286697, 44286708
81PEX16110.9779058597502423104145937374, 45939264-45939285
82F2110.99839486356343186946747515-46747516, 46750378
83MYBPC3110.9924183006535929382547371576-47371592, 47371611, 47372903-47372906, 47372974, 47374193-47374198
84SERPING1110.99401197604799150357365754, 57365767, 57381931-57381937
85BEST1110.9874857792946522175861719342-61719348, 61723280-61723293, 61723382
86ROM1110.993371212121217105662381151-62381157
87SLC22A12110.71480144404332474166264359049-64359056, 64359093-64359114, 64359176-64359180, 64359197-64359198, 64359206-64359213, 64359265, 64359270-64359282, 64359286, 64359289-64359315, 64359346-64359374, 64359414-64359416, 64359420, 64360264-64360266, 64360274-64360276, 64360301-64360308, 64360319-64360320, 64360879-64360887, 64360898, 64360902-64360904, 64360920-64360936, 64361107-64361118, 64361159-64361163, 64361221-64361223, 64361228, 64361258-64361275, 64365988-64366000, 64366038-64366045, 64366088-64366090, 64366093, 64366280-64366315, 64366346, 64366351-64366368, 64367149, 64367165-64367189, 64367233-64367325, 64367332-64367362, 64367839-64367844, 64367862, 64367870, 64367873-64367887, 64367944-64367947, 64368332-64368340, 64368373-64368374, 64368401
88PYGM110.9849742981415638252964521027-64521041, 64521389-64521400, 64521493, 64521746-64521751, 64527148-64527151
89CST6110.873333333333335745065780298-65780301, 65780331-65780372, 65780412-65780422
90SPTBN2110.9967935312979223717366468521-66468524, 66468733-66468738, 66472219, 66472282-66472283, 66472627-66472632, 66475060, 66475631-66475633
91PC110.95957025728018143353766616801-66616816, 66616828-66616831, 66617536, 66617539-66617541, 66617691-66617692, 66618341-66618342, 66618540-66618551, 66618554, 66618643, 66618733, 66619981-66619983, 66620036-66620051, 66620065-66620106, 66620808, 66631381, 66633748-66633749, 66638888-66638896, 66639194-66639219
92CABP4110.964975845410632982867222976-67222978, 67223091, 67223141, 67223660-67223661, 67223814-67223820, 67225916, 67225922-67225930, 67225973-67225977
93AIP110.6424974823766435599367256762-67256804, 67256810-67256841, 67256886-67256896, 67256901, 67256904, 67257509-67257518, 67257523-67257524, 67257528-67257531, 67257549-67257578, 67257599-67257605, 67257609, 67257612, 67257624-67257670, 67257787-67257837, 67257847-67257852, 67257894-67257901, 67257907-67257928, 67258291-67258313, 67258340-67258352, 67258373-67258387, 67258391-67258394, 67258400, 67258410-67258423, 67258457-67258464
94NDUFS8110.946287519747243463367799776, 67799780-67799783, 67799790-67799793, 67800396, 67800402, 67800631-67800643, 67803728, 67803735-67803736, 67803746-67803748, 67803944-67803946, 67804060
95TCIRG1110.86401925391095339249367808823-67808824, 67810110-67810113, 67810158-67810180, 67810198, 67810257-67810287, 67810306, 67810309, 67810323, 67810440-67810479, 67810847, 67810864, 67810879-67810884, 67810913, 67810916, 67811298-67811325, 67811338-67811371, 67811610-67811611, 67811620, 67811648-67811663, 67811788, 67815251-67815257, 67816548-67816567, 67816579-67816580, 67816590, 67817244, 67817460, 67817463-67817464, 67817467, 67817517-67817533, 67817604-67817642, 67817686, 67817695-67817721, 67817956, 67817977, 67817990-67817991, 67817994, 67818072-67818089, 67818286
96LRP5110.93337458745875323484868080183-68080273, 68131301, 68131358-68131376, 68154178-68154180, 68177467, 68177518, 68177521, 68201230-68201238, 68201242-68201247, 68201249-68201255, 68201266-68201271, 68201283, 68204420-68204431, 68204441-68204443, 68204453, 68204463-68204466, 68205963-68205964, 68207280, 68207307-68207312, 68207315-68207330, 68207338-68207368, 68207376, 68213943-68213975, 68213985-68213986, 68216307-68216308, 68216317-68216318, 68216386-68216427, 68216512-68216530
97IGHMBP2110.997652582159627298268671477, 68704417-68704419, 68704533-68704535
98DHCR7110.995798319327736142871146491-71146496
99MYO7A110.754211793020461634664876858898-76858902, 76858978-76858996, 76868010-76868016, 76873339, 76873350-76873351, 76873358, 76883794-76883810, 76883842-76883862, 76883878, 76883893, 76883920-76883931, 76885818-76885960, 76886430-76886507, 76888595-76888677, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893059, 76893076-76893200, 76893469-76893588, 76893594-76893645, 76894113-76894144, 76894164-76894165, 76894170, 76894174-76894202, 76895635-76895654, 76895703, 76895709, 76895748-76895758, 76900421, 76900459, 76900493-76900501, 76901084-76901133, 76901155, 76901158, 76901742-76901746, 76901771-76901818, 76901912-76901915, 76903100-76903105, 76903149-76903180, 76903235, 76909568-76909572
100FZD4110.9938042131350710161486666090, 86666094-86666102
101TRPC6110.9982117310443552796101359765-101359768, 101362388
102DRD2110.9992492492492511332113281449
103APOA1110.9328358208955254804116706596, 116706726-116706727, 116706767-116706810, 116706817-116706823
104FXYD2110.9246575342465833438117693195-117693199, 117693264-117693275, 117693299-117693304, 117693368-117693373, 117693424-117693426, 117695393
105TECTA110.99087393658159596465120983840-120983841, 120984395-120984410, 120989015-120989030, 120989165-120989181, 120996546-120996553
106ROBO3110.9997596731554914161124738761
107WNK1120.976640089523011677149862732-862748, 862777-862798, 862832-862876, 862899-862903, 862907, 862973, 862980-862982, 863039-863051, 863077-863080, 863135-863177, 863262-863265, 863275, 863392, 994805-994811
108CACNA2D4120.98799062683074134141906592-1906623, 1906663-1906669, 1906700-1906701
109CACNA1C120.993446121018144365612676870-2676888, 2788728-2788735, 2794934-2794940, 2797835-2797843
110VWF120.989812840559118684426128064-6128087, 6131925-6131932, 6131958, 6132003-6132033, 6166053, 6166063-6166069, 6166072-6166073, 6166194-6166197, 6166212-6166219
111TNFRSF1A120.967105263157894513686438576-6438620
112TPI1120.9933333333333357506976731-6976734, 6976737
113ATN1120.984606773019875535737045888-7045942
114PKP2120.9880668257756630251433049443-33049449, 33049562, 33049617-33049622, 33049650-33049665
115LRRK2120.999604430379753758440713873, 40761446-40761447
116COL2A1120.9890232974910449446448374740-48374746, 48377518-48377519, 48377870-48377871, 48379550-48379556, 48398055-48398085
117MLL2120.9979535331648341661449425788, 49425792-49425794, 49426122, 49426522, 49426730-49426732, 49426906-49426908, 49427047-49427049, 49427055, 49427087-49427088, 49427318-49427321, 49427649, 49427661, 49431291-49431293, 49431305-49431308, 49431801, 49431820, 49431843
118TUBA1A120.844298245614047145649522235-49522241, 49522258-49522290, 49522442-49522471, 49522624
119KRT81120.953227931488871151852683946, 52684031-52684061, 52685041, 52685102, 52685120-52685128, 52685170-52685196, 52685206
120KRT86120.9726214921286840146152695848, 52695854, 52696893-52696923, 52699030-52699036
121KRT83120.995276653171397148252715023-52715028, 52715038
122KRT6B120.966961651917456169552844240-52844249, 52845528-52845534, 52845598-52845604, 52845662-52845686, 52845798-52845804
123KRT6C120.985840707964624169552867190, 52867257-52867264, 52867324, 52867339-52867342, 52867416-52867418, 52867457-52867463
124KRT6A120.995870206489687169552886908-52886914
125GNS120.996986136226645165965152987-65152990, 65153020
126LEMD3120.998903508771933273665563758-65563760
127CEP290120.999865591397851744088522723
128TMPO120.999520383693051208598909883
129TRPV4120.98853211009174302616110230588, 110232280, 110236468-110236473, 110236477-110236482, 110236514, 110236606-110236612, 110238519, 110238531, 110246164-110246167, 110246225, 110252502
130ATXN2120.868087265347545203942112036588-112036611, 112036615, 112036638-112036703, 112036712-112036730, 112036739-112036787, 112036792-112036803, 112036813-112036819, 112036830-112036837, 112036850-112036940, 112036948-112037074, 112037096-112037110, 112037126, 112037131-112037145, 112037190, 112037196-112037223, 112037226-112037235, 112037247-112037292
131ACADS120.9983857949959621239121175665-121175666
132HNF1A120.9968354430379761896121416572, 121437404-121437407, 121437411
133PUS1120.9929906542056191284132414272-132414279, 132425974
134B3GALTL130.975283901135637149731774227, 31774237-31774272
135FREM2130.998107255520518951039261568-39261570, 39261632, 39261784, 39261857-39261865, 39262057-39262060
136ZIC2130.767979987492183711599100634319-100634320, 100634390-100634423, 100634459-100634486, 100634536-100634556, 100634588-100634612, 100634682-100634695, 100635008-100635010, 100635201-100635204, 100637594-100637633, 100637637-100637640, 100637643-100637644, 100637653-100637678, 100637711-100637777, 100637801-100637865, 100637877-100637901, 100637915-100637921, 100637933-100637936
137ERCC5130.9990563812219944239103519079-103519082
138COL4A1130.99700598802395155010110959324-110959334, 110959356, 110959369-110959371
139F7130.435955056179787531335113760156-113760184, 113760208-113760213, 113765015-113765057, 113765074-113765141, 113765161-113765164, 113768210-113768214, 113768246-113768250, 113769984-113770022, 113770036-113770051, 113770065, 113770068, 113770077-113770078, 113770099, 113771097-113771122, 113771160, 113771787-113771811, 113771848, 113771851-113771852, 113771858-113771871, 113771878-113771886, 113772733, 113772747-113772748, 113772752-113772755, 113772763-113772767, 113772787-113772858, 113772871-113772957, 113772963-113772997, 113773016-113773023, 113773031-113773036, 113773053, 113773060-113773077, 113773107-113773322
140F10130.95978186775733591467113777185-113777239, 113798368-113798369, 113803541-113803542
141GRK1130.94267139479905971692114321918-114321944, 114322144-114322158, 114322210, 114325819, 114325823-114325824, 114325862, 114325866, 114325870-114325871, 114325876-114325892, 114325950-114325953, 114426047-114426053, 114426080-114426098
142SLC7A7140.996744791666675153623282123-23282127
143PABPN1140.8762214983713411492123790679-23790716, 23790730-23790756, 23790954-23791002
144MYH6140.999484536082473582023871999-23872001
145MYH7140.999827823691461580823894010
146NRL140.98739495798319971424550548-24550555, 24550610
147TGM1140.9926650366748218245424725200-24725210, 24728918, 24731451-24731456
148FOXG1140.78231292517007320147029236507, 29236533, 29236634-29236638, 29236650-29236732, 29236741-29236970
149NKX2-1140.9800995024875624120636986693-36986697, 36986872-36986879, 36986910-36986920
150C14orf104140.94470962609387139251450100815-50100823, 50100829, 50100836, 50100941-50100945, 50100977-50100990, 50101083-50101110, 50101121, 50101232-50101278, 50101351-50101355, 50101360, 50101363-50101369, 50101417-50101423, 50101469-50101474, 50101540, 50101632-50101637
151L2HGDH140.99928160919541139250778830
152GCH1140.98937583001328875355369213-55369219, 55369232
153SYNE2140.9999517467670312072464443281
154VSX2140.9907918968692410108674706414-74706423
155FLVCR2140.994307400379519158176045459-76045467
156POMT2140.9835774522858437225377786832-77786841, 77786860, 77786863-77786865, 77786869-77786883, 77786895-77786900, 77786916, 77787005
157AMN140.1233480176211511941362103389042-103389068, 103390062-103390073, 103390114, 103390136-103390155, 103390291-103390295, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395861, 103395868-103395870, 103395992-103396000, 103396018-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
158INF2140.542417163750105167703-105167765, 105167794-105167835, 105167879-105167905, 105167911-105167963, 105167971-105167990, 105168006-105168023, 105168093, 105169442, 105169450-105169465, 105169518-105169557, 105169646-105169650, 105169753, 105169755-105169771, 105170253-105170272, 105172372-105172374, 105172378, 105172381, 105172388-105172404, 105172423-105172426, 105172444, 105172452-105172458, 105172494-105172500, 105173247-105173294, 105173354, 105173359, 105173362, 105173654-105173660, 105173674-105173682, 105173689-105173690, 105173721-105173806, 105173834, 105173843-105174235, 105174249-105174271, 105174274, 105174291, 105174305-105174309, 105174316-105174339, 105174773-105174809, 105174812-105174846, 105174870-105174924, 105175641-105175675, 105176006-105176042, 105176433, 105176437, 105176443, 105176454-105176475, 105176497-105176514, 105177274-105177280, 105177292, 105177334-105177344, 105177430-105177523, 105178000, 105178010-105178012, 105178015, 105178027-105178031, 105178035-105178036, 105178770-105178783, 105178798, 105178804, 105178878-105178890, 105179176, 105179189-105179196, 105179204-105179207, 105179237-105179286, 105179310-105179314, 105179548-105179555, 105179580-105179633, 105179782-105179802, 105179821-105179837, 105179893, 105179909-105179915, 105179921, 105179930, 105179942-105179943, 105180556, 105180565, 105180569-105180571, 105180586, 105180731-105180739, 105180756-105180783, 105180852-105180856, 105180859-105180864, 105180951-105180994, 105181007-105181012, 105181061-105181077, 105181111-105181153, 105181187, 105181192, 105181644-105181648, 105181662
159NIPA1150.8181818181818218099023048992-23048993, 23086234-23086411
160CHST14150.8894783377542125113140763426-40763429, 40763432-40763446, 40763485-40763489, 40763492-40763548, 40763572-40763596, 40763793-40763811
161CDAN1150.99864277958745368443028671-43028674, 43028819
162STRC150.9968093093093117532843896306-43896312, 43897496-43897502, 43901476, 43910225, 43910440
163DUOX2150.9982784592218464745403617-45403623, 45404066
164CLN6150.959401709401713893668521840, 68521867-68521890, 68521910-68521922
165HEXA150.92389937106918121159072668091-72668131, 72668141-72668180, 72668252-72668291
166HCN4150.8563122923588519361273659855, 73659858-73659859, 73659985, 73659989, 73659993-73659994, 73660019-73660021, 73660030-73660125, 73660133-73660171, 73660185, 73660193-73660232, 73660243-73660378, 73660385-73660391, 73660407-73660555, 73660571-73660611
167PSTPIP1150.0999200639488411126125177310489-77310589, 77310816-77310872, 77317632, 77317642-77317659, 77317848-77317854, 77317860-77317918, 77317925-77317945, 77320193-77320236, 77320253-77320255, 77320895-77320993, 77321870-77321882, 77321891-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324674, 77324686-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
168POLG150.9951612903225818372089866010-89866011, 89876828-89876836, 89876841-89876847
169MESP2150.80067001675042238119490319592-90319620, 90319761-90319784, 90319857-90319881, 90319919-90319930, 90319937-90319938, 90319962-90319968, 90320000-90320063, 90320094, 90320116-90320146, 90320149, 90320159-90320161, 90320182-90320188, 90320226-90320242, 90320310, 90320385-90320389, 90320435-90320441, 90320481-90320482
170BLM150.998589562764466425491337561, 91337564, 91337584-91337587
171VPS33B150.999460625674221185491565409
172IGF1R150.9943957115009723410499192871-99192893
173HBZ160.65967365967366146429203905, 203929-203984, 203994, 204012, 204034-204046, 204062, 204083-204095, 204271-204324, 204364-204369
174HBA2160.51515151515152208429222926, 222959-222980, 222986-223006, 223124-223146, 223167-223190, 223211-223243, 223265-223308, 223313-223314, 223318, 223327-223328, 223471-223484, 223505-223525
175GNPTG160.837690631808281499181401967-1402018, 1402103-1402151, 1402240-1402271, 1402283, 1402286, 1402298-1402307, 1412274, 1413050-1413052
176CLCN7160.41397849462366141724181496632-1496718, 1497007-1497087, 1497393-1497428, 1497441-1497453, 1497464-1497495, 1497509-1497569, 1497656-1497715, 1498356-1498382, 1498393-1498431, 1498443-1498484, 1498682-1498727, 1498740-1498767, 1498967-1498974, 1498989-1499065, 1499082-1499094, 1499277-1499298, 1499322-1499327, 1500498-1500667, 1501624-1501658, 1501665-1501672, 1501705-1501717, 1502762, 1502766-1502779, 1502785-1502790, 1502806-1502828, 1502838-1502859, 1502881-1502894, 1503871-1503892, 1504419, 1504442-1504466, 1505153-1505158, 1505169-1505217, 1505235-1505251, 1505736-1505765, 1505768-1505770, 1506114-1506153, 1506156-1506207, 1507255-1507281, 1507756-1507757, 1509108-1509109, 1509120-1509144, 1509164, 1509173, 1509181-1509182, 1509187-1509188, 1511441-1511458, 1515326-1515339, 1524835-1524842, 1524851-1524867, 1524890-1524934, 1524941-1524947, 1524959-1524975
177IGFALS160.31987577639752131419321840601-1840668, 1840684-1840713, 1840738, 1840741-1840749, 1840798-1840827, 1840833-1840904, 1840932-1841003, 1841009-1841131, 1841138-1841173, 1841199-1841236, 1841255-1841357, 1841394, 1841397-1841428, 1841480-1841483, 1841502-1841505, 1841513, 1841517-1841518, 1841521-1841523, 1841526-1841581, 1841605-1841707, 1841721-1841786, 1841813-1841849, 1841859-1841890, 1841909-1841927, 1841948-1841996, 1842012-1842018, 1842022-1842080, 1842087-1842105, 1842111, 1842116, 1842126-1842138, 1842201-1842205, 1842233-1842257, 1842286-1842293, 1842305-1842445, 1842472-1842507, 1843646-1843653
178GFER160.472491909385113266182034220-2034477, 2034751-2034753, 2034791-2034792, 2034824, 2034827, 2034886-2034900, 2034904, 2034938-2034944, 2035926, 2035935, 2035967-2036002
179TSC2160.35582595870206349454242098617-2098621, 2098656-2098679, 2098715, 2098744-2098754, 2103343-2103348, 2103399-2103416, 2103425-2103426, 2103439-2103453, 2106201, 2106207, 2106210-2106211, 2108771, 2108793, 2108803-2108851, 2110707, 2110710-2110717, 2110722, 2110740, 2110774-2110786, 2111913-2111933, 2111966, 2112538-2112580, 2112973-2112977, 2112999, 2113006, 2113024, 2113028, 2114383-2114428, 2115543-2115589, 2115615-2115618, 2120457, 2120467-2120493, 2120569-2120570, 2120577-2120579, 2121511-2121561, 2121568-2121617, 2121787, 2121817-2121924, 2122256-2122263, 2122304-2122323, 2122340-2122364, 2122850-2122851, 2122864-2122894, 2122924-2122972, 2124216, 2124232-2124258, 2124286-2124305, 2124315, 2124319-2124321, 2124328-2124369, 2124376-2124390, 2125800-2125826, 2125850-2125879, 2125883-2125885, 2125893, 2126077-2126119, 2126141, 2126144-2126171, 2126492-2126537, 2126552-2126570, 2127599-2127620, 2127626-2127667, 2127694-2127717, 2127721-2127727, 2129033-2129145, 2129152-2129158, 2129168-2129197, 2129277-2129285, 2129294, 2129312-2129429, 2129558-2129670, 2130166-2130196, 2130205, 2130212-2130224, 2130247-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
180PKD1160.001703841387856312890129122139728-2139983, 2139991-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147750, 2147766-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
181ABCA3160.995698924731182251152327601-2327602, 2339598-2339599, 2347330-2347340, 2347833, 2348409-2348411, 2349428-2349430
182MEFV160.99914748508099223463297073, 3304636
183SLX4160.996003633060852255053632434, 3632493, 3632531, 3639232, 3639349, 3639352, 3646165-3646179, 3647890
184CREBBP160.954154727793733673293777766-3777769, 3778143, 3778148, 3778151-3778161, 3778280-3778292, 3778381-3778389, 3778395-3778396, 3778400-3778403, 3778407-3778417, 3778607-3778614, 3778621-3778667, 3778691, 3778705-3778706, 3778709, 3778784-3778791, 3778887-3778981, 3779007, 3779011, 3779041, 3779044, 3779064-3779073, 3779100-3779114, 3779136-3779138, 3779145-3779154, 3779203-3779210, 3779250-3779265, 3779319, 3779365-3779388, 3779391-3779393, 3779411, 3779442-3779463, 3779490
185GLIS2160.35809523809524101115754382296-4382307, 4382337-4382384, 4382398-4382401, 4382409-4382419, 4382425, 4382453, 4383348-4383382, 4383452-4383473, 4384815-4384821, 4384878, 4384885-4384900, 4384927, 4384934-4384939, 4384961-4384972, 4385061-4385062, 4385121-4385163, 4385276-4385312, 4385327-4385341, 4385344, 4385361-4385389, 4386726-4386756, 4386782-4386805, 4386810-4386819, 4386825-4386827, 4386831-4386849, 4386857-4386887, 4386894-4386923, 4386958-4386993, 4387003-4387525
186ALG1160.8709677419354818013955121851-5121854, 5128828-5128874, 5130962-5130999, 5131007-5131026, 5131033-5131057, 5133683-5133705, 5133747-5133758, 5134872-5134882
187MYH11160.999494949494953594015850219-15850221
188ABCC6160.9071365248227419451216244475, 16244480-16244481, 16253409-16253418, 16255352, 16255356-16255358, 16256903-16256909, 16256967-16256971, 16259480-16259539, 16259555-16259578, 16259601-16259648, 16259721-16259740, 16259790, 16263514, 16263517-16263537, 16263550-16263556, 16263567-16263568, 16263580-16263594, 16263612-16263616, 16263668-16263672, 16263699-16263706, 16267141-16267160, 16267163-16267172, 16267179-16267219, 16267233-16267261, 16269768-16269783, 16269799, 16271340-16271343, 16276687-16276714, 16317268-16317291
189UMOD160.997919916796674192320360313-20360316
190COG7160.999567661046261231323436184
191CLN3160.9597570235383453131728497669-28497685, 28497702-28497737
192TUFM160.9809941520467826136828857404-28857427, 28857569-28857570
193PHKG2160.9975429975433122130760183, 30760188-30760189
194VKORC1160.9979674796748149231105975
195SLC5A2160.977711738484445201931500005, 31500042-31500085
196SALL1160.999245283018873397551175656-51175658
197MMP2160.997982854261224198355513466-55513469
198SLC12A3160.9948270287746516309356920970, 56921837-56921838, 56921840, 56921857-56921860, 56921911-56921917, 56921943
199TK2160.976190476190482292466583923-66583929, 66583960-66583963, 66583969, 66583975, 66584013-66584019, 66584023, 66584031
200HSD11B2160.83661740558292199121867465152-67465308, 67465327-67465331, 67465365-67465396, 67465399-67465401, 67465407-67465408
201LCAT160.82766439909297228132367973927, 67973948-67973977, 67974025-67974035, 67974061, 67974092-67974116, 67974178-67974194, 67976358-67976370, 67976587-67976592, 67976608, 67976611-67976612, 67976628, 67976633-67976663, 67976784, 67976875-67976879, 67976966-67976991, 67977054-67977097, 67977115, 67977993-67978004
202CDH3160.9935742971887616249068721610-68721613, 68725756-68725761, 68725791-68725796
203CDH1160.9928274820687119264968771319-68771323, 68771350-68771363
204COG8160.89450788471996194183969364742-69364828, 69364858, 69364876, 69364896-69364940, 69373086, 69373090, 69373138, 69373141, 69373202-69373204, 69373213-69373216, 69373222-69373247, 69373261-69373265, 69373313, 69373320-69373323, 69373390-69373391, 69373394, 69373407-69373416
205AARS160.999656002751981290770303580
206GCSH160.877394636015336452281129744, 81129773-81129794, 81129808-81129844, 81129879-81129882
207GAN160.9916387959866215179481348719, 81348752-81348760, 81348768-81348772
208MLYCD160.90620782726046139148283932780, 83932798-83932847, 83932867-83932883, 83932892-83932895, 83932924-83932931, 83932981-83932991, 83933084-83933108, 83933111-83933113, 83933120, 83933125-83933126, 83933149-83933165
209LRRC50160.996786042240597217884203672, 84203714-84203715, 84205951-84205954
210FOXF1160.86578947368421153114086544188-86544206, 86544221, 86544227, 86544240-86544252, 86544285-86544286, 86544419-86544425, 86544429, 86544513-86544521, 86544584-86544598, 86544699-86544702, 86544707-86544724, 86544854-86544877, 86544916-86544929, 86544957-86544976, 86544991-86544995
211FOXC2160.72443559096946415150686600968-86600986, 86601050-86601061, 86601156-86601167, 86601207, 86601397-86601410, 86601426-86601452, 86601494-86601549, 86601555-86601564, 86601593-86601605, 86601638, 86601641-86601663, 86601672, 86601677-86601680, 86601689-86601731, 86601768, 86601773-86601774, 86601781-86601796, 86601801-86601802, 86601815, 86601843-86601881, 86601906-86601907, 86601911, 86601917, 86601967-86601975, 86601980, 86601986, 86601990, 86602063, 86602090-86602091, 86602094, 86602119-86602166, 86602179-86602215, 86602245, 86602261-86602266, 86602273, 86602277, 86602296, 86602304, 86602322, 86602365
212JPH3160.71250556297285646224787636873-87636896, 87636921-87636925, 87636955, 87678517-87678522, 87678637-87678641, 87717783, 87717813-87717836, 87717860, 87723252-87723279, 87723282, 87723291-87723297, 87723329-87723403, 87723424-87723482, 87723520-87723526, 87723542, 87723552-87723579, 87723605-87723823, 87723856-87723861, 87723869-87723872, 87723895-87723903, 87723909-87724026, 87724045-87724060, 87724132
213CYBA160.4472789115646332558888709761-88709959, 88712558-88712599, 88713201-88713212, 88713236, 88713512-88713513, 88714495-88714496, 88714507, 88714512-88714520, 88717364-88717420
214APRT160.1565377532228445854388876119-88876155, 88876168-88876230, 88876238-88876245, 88876478-88876556, 88876835-88876872, 88876899-88876904, 88876908, 88876912, 88876921-88876958, 88877958-88878064, 88878228-88878307
215GALNS160.77501593371574353156988884432-88884494, 88884509-88884532, 88888997-88889013, 88889020-88889025, 88889055, 88889087-88889093, 88889099-88889118, 88891189-88891215, 88891226-88891255, 88893197-88893224, 88901636-88901637, 88901642, 88901683, 88901760, 88902180-88902202, 88902668-88902669, 88907419-88907421, 88908372-88908379, 88923166-88923203, 88923235-88923285
216SPG7160.960636515912994238889574833-89574863, 89574873-89574876, 89574922-89574928, 89574964, 89574967, 89574969-89574970, 89576898, 89576949-89576952, 89614417, 89614496-89614498, 89620353, 89623418-89623421, 89623462-89623465, 89623472-89623501
217FANCA160.96611721611722148436889805092-89805098, 89805101-89805104, 89805342-89805344, 89837014-89837028, 89842165-89842170, 89842206, 89877341-89877352, 89882324-89882365, 89882945-89882960, 89882968-89883004, 89883019-89883023
218TUBB3160.58388765705839563135389989810-89989866, 89999008-89999009, 89999013, 89999914, 89999950-89999953, 89999956, 90001189-90001193, 90001283-90001310, 90001385, 90001390-90001391, 90001418-90001439, 90001467, 90001498-90001523, 90001546-90001569, 90001580-90001608, 90001630-90001647, 90001665-90001667, 90001677, 90001686-90001770, 90001791-90001862, 90001886-90001888, 90001909-90001915, 90001923-90001925, 90001930-90002015, 90002026-90002029, 90002052-90002088, 90002129-90002141, 90002144, 90002154, 90002173-90002189, 90002194-90002195, 90002201-90002206
219PRPF8170.998287671232881270081557211-1557214, 1557217, 1557221, 1557224, 1558713-1558717
220CTNS170.953449709060685612033559792-3559804, 3559853-3559865, 3560022, 3560025-3560029, 3560086-3560089, 3563152-3563153, 3563254-3563269, 3563915, 3563925
221CHRNE170.9143049932523612714824802305-4802329, 4802349-4802374, 4802572-4802608, 4802618-4802647, 4802770-4802776, 4804432, 4804435
222PITPNM3170.958290598290612229256358694-6358702, 6358713-6358745, 6358775-6358800, 6358845-6358846, 6358849-6358858, 6358864-6358865, 6358875, 6358949-6358956, 6376064-6376069, 6382014-6382016, 6459705-6459726
223ACADVL170.992378048780491519687123499, 7125356-7125357, 7126492-7126493, 7127980, 7127984-7127992
224GUCY2D170.992149758454112633127906448, 7906451-7906459, 7906485, 7906519, 7906659-7906664, 7906715, 7906813-7906818, 7906870
225ALOX12B170.99620132953466821067982714-7982717, 7984502-7984505
226ALOXE3170.99765917602996521368013256-8013260
227HES7170.94542772861357376788024899-8024906, 8024993-8025013, 8025086-8025091, 8025186-8025187
228TNFRSF13B170.99433106575964588216843700, 16843748-16843751
229FLCN170.9827586206896630174017127435-17127441, 17129566-17129572, 17131245-17131260
230RAI1170.97413039678378148572117697094-17697108, 17697611-17697637, 17697769, 17697772, 17697795, 17698254, 17698772-17698798, 17698809-17698832, 17698875-17698878, 17699190, 17699283-17699284, 17699287-17699288, 17699291, 17699514-17699515, 17699610, 17699618-17699639, 17699828-17699834, 17700947, 17701169, 17701690-17701691, 17701737-17701739, 17713290, 17713293
231MYO15A170.8073255923723220411059318022128-18022134, 18022139, 18022191-18022229, 18022326-18022332, 18022365-18022378, 18022399, 18022409-18022413, 18022466-18022497, 18022555-18022561, 18022596-18022623, 18022660-18022703, 18022765-18022774, 18022798-18022855, 18022927-18022958, 18022983-18022996, 18023022-18023091, 18023228-18023229, 18023235, 18023240, 18023243, 18023246-18023247, 18023272-18023316, 18023341, 18023374-18023397, 18023411-18023443, 18023480-18023512, 18023608-18023650, 18023680-18023686, 18023707-18023800, 18023832-18023884, 18023896-18024191, 18024200-18024291, 18024309-18024525, 18024545-18024577, 18024588-18024757, 18024781-18024864, 18024889-18024903, 18024927-18024959, 18024986-18025009, 18025024-18025026, 18025032, 18025036-18025039, 18025046-18025090, 18025115-18025120, 18025147-18025157, 18025183-18025190, 18025214-18025288, 18025312-18025328, 18025355-18025460, 18025467-18025483, 18025566-18025571, 18025575-18025577, 18025658-18025661, 18027810-18027811, 18043945, 18045403-18045408, 18057187-18057199, 18061105-18061110, 18070932-18070958, 18070965-18070971
232UNC119170.952973720608583472326879398-26879431
233NEK8170.9985569985573207927067990-27067992
234SLC6A4170.9841521394611730189328543179-28543193, 28543221-28543234, 28548916
235NF1170.9982394366197215852029422328-29422342
236TCAP170.964285714285711850437822213-37822230
237KRT10170.99829059829063175538975328-38975329, 38978536
238KRT14170.9365750528541290141939739509-39739515, 39742829-39742872, 39742960-39742998
239KRT16170.87412095639944179142239766262-39766281, 39768475-39768496, 39768706-39768746, 39768816-39768858, 39768868-39768920
240KRT17170.89992301770593130129939777232-39777233, 39779211-39779212, 39779217-39779228, 39780367-39780394, 39780436-39780451, 39780504, 39780508-39780515, 39780532, 39780561-39780583, 39780620-39780626, 39780721-39780724, 39780728-39780740, 39780749-39780761
241JUP170.999553172475421223839920983
242FKBP10170.987421383647822174939969428, 39974341-39974354, 39975559, 39976667-39976668, 39977263-39977266
243STAT5B170.998307952622674236440371440-40371443
244NAGLU170.9784946236559148223240688397, 40688400-40688402, 40688430-40688449, 40688460-40688461, 40688476-40688497
245BRCA1170.997347480106115565541258479-41258493
246NAGS170.9819314641744529160542082233-42082251, 42083427, 42083435-42083441, 42083976-42083977
247SLC4A1170.9963450292397710273642335091-42335100
248GRN170.9539842873176282178242427035, 42427815-42427837, 42429383-42429389, 42429394-42429396, 42429731-42429745, 42429878-42429901, 42429924-42429930, 42430076-42430077
249ITGA2B170.96538461538462108312042452427-42452431, 42452440-42452462, 42452975, 42453075, 42460862, 42460955, 42460960-42460963, 42460982-42460983, 42460990-42460993, 42461050-42461058, 42461313-42461314, 42462322, 42462567-42462568, 42462575-42462576, 42462941-42462981, 42463215-42463222, 42463227
250PLEKHM1170.9864396089561743317143515235-43515253, 43515328-43515335, 43516861-43516867, 43552534-43552540, 43552717, 43552921
251MAPT170.9944229944229913233144055782-44055786, 44061239-44061246
252WNT3170.9887640449438212106844845714-44845719, 44845737-44845739, 44851076-44851078
253COL1A1170.9922639362912434439548276608-48276641
254MKS1170.998809523809522168056284550-56284551
255TRIM37170.999654576856651289557105924
256AP1S2170.99839743589744162458180037
257CA4170.99787007454739293958227416-58227417
258ACE170.95613363937771172392161554456-61554458, 61554471-61554577, 61554592-61554612, 61554630-61554665, 61554692, 61554695-61554697, 61561840
259TACO1170.99888143176734189461678545
260COG1170.9758749575263371294371189215, 71189218, 71189276-71189296, 71189405-71189452
261USH1G170.65512265512266478138672915549-72915559, 72915647-72915691, 72915773, 72915850, 72915906-72915912, 72915948-72915987, 72916006-72916055, 72916084-72916135, 72916190-72916232, 72916266, 72916349-72916377, 72916395-72916433, 72916442-72916487, 72916491-72916498, 72916501-72916502, 72916520-72916526, 72916530, 72916551-72916552, 72916558-72916564, 72916636-72916642, 72919009-72919052, 72919060-72919090, 72919110, 72919136, 72919147, 72919151
262TSEN54170.8595825426945222158173512642-73512667, 73512676-73512677, 73512688-73512689, 73512691-73512692, 73512833-73512887, 73512893-73512973, 73512977, 73512982, 73513094-73513102, 73513105-73513107, 73513144-73513153, 73513694-73513701, 73517958, 73518243-73518245, 73518298-73518303, 73518312-73518313, 73518317-73518323, 73518332, 73518335, 73518389
263ITGB4170.93710001828488344546973726363-73726369, 73726462, 73726470, 73726477, 73726970-73726977, 73727017-73727026, 73727413-73727417, 73735771, 73736134-73736139, 73736496-73736497, 73736886-73736887, 73738481-73738484, 73745082, 73745085-73745087, 73745107-73745109, 73745113-73745115, 73748623, 73749858-73749859, 73749864-73749865, 73749913-73749915, 73749927-73749936, 73749964-73749975, 73750019, 73750032-73750034, 73750722-73750745, 73751782-73751784, 73751791-73751801, 73751840-73751889, 73751912-73751931, 73752553-73752555, 73752559-73752568, 73752640, 73752645-73752647, 73753058-73753068, 73753082-73753097, 73753139-73753143, 73753148-73753176, 73753292-73753308, 73753342-73753349, 73753497-73753537
264GALK1170.74045801526718306117973754184-73754208, 73754311-73754335, 73754369-73754404, 73754410-73754435, 73754452-73754453, 73754530-73754568, 73754596-73754615, 73754640-73754680, 73758856-73758862, 73759141-73759195, 73759198, 73759217, 73761130-73761146, 73761172-73761175, 73761178-73761179, 73761202-73761203, 73761215-73761217
265UNC13D170.87045523984112424327373824049-73824053, 73824135-73824147, 73825050-73825059, 73826443-73826479, 73826488, 73826491, 73826669-73826689, 73827383-73827386, 73827421-73827429, 73830454, 73831728-73831730, 73832421-73832440, 73832741-73832747, 73832756-73832777, 73832906-73832915, 73835920-73835938, 73836117-73836124, 73838525-73838544, 73838608-73838612, 73838661-73838681, 73838945-73838946, 73838961-73838999, 73839101, 73839114-73839117, 73839126-73839154, 73839259-73839263, 73839284-73839306, 73839334-73839347, 73839568, 73839599-73839600, 73840326-73840354, 73840375-73840412
266ACOX1170.999495713565311198373945340
267SEPT9170.8869960249858199176175277626-75277627, 75277631, 75478286-75478292, 75478297-75478305, 75483534-75483535, 75483540, 75483614-75483634, 75484912-75484916, 75489065-75489079, 75494605-75494740
268GAA170.85309548793284420285978078442-78078456, 78078493-78078506, 78078535-78078540, 78078550-78078551, 78078559-78078565, 78078569-78078571, 78078578, 78078581-78078582, 78078604-78078629, 78078633, 78078653-78078671, 78078695-78078725, 78078758-78078793, 78078878-78078885, 78078888-78078891, 78078894, 78078897-78078912, 78079589-78079591, 78079597, 78079600, 78079643, 78079667-78079669, 78081356-78081357, 78081435-78081443, 78081505, 78081637-78081639, 78081645, 78081656-78081672, 78082139-78082140, 78082288-78082294, 78082380-78082389, 78082499-78082504, 78082524, 78082535, 78082585-78082596, 78083753-78083761, 78083786-78083789, 78083800, 78083814-78083815, 78084554-78084569, 78084777, 78085847-78085854, 78086380-78086409, 78086419-78086428, 78086431-78086442, 78086456-78086480, 78086697-78086699, 78086704, 78087145-78087157, 78091994-78092005
269SGSH170.84824387011266229150978184256-78184261, 78184306-78184342, 78184487-78184489, 78184549-78184557, 78184601-78184624, 78184674-78184691, 78184758, 78185998-78186006, 78186028-78186033, 78186062-78186073, 78187652, 78187655, 78187667-78187671, 78188486, 78188499, 78188549-78188564, 78188838-78188872, 78188891, 78190831-78190832, 78194025-78194044, 78194067-78194087
270ACTG1170.84131205673759179112879477716-79477718, 79477742, 79477749, 79477754, 79477758, 79477769-79477770, 79477773-79477774, 79477953, 79477956-79477969, 79477975, 79477982, 79478019, 79478314, 79478317, 79478328, 79478333, 79478339, 79478398-79478437, 79478508, 79478511, 79478578, 79478592, 79478595-79478598, 79478609-79478644, 79478952-79478957, 79478996, 79479076-79479077, 79479260-79479290, 79479309-79479315, 79479342-79479355
271FSCN2170.0311020960108181433147979495558-79495619, 79495630-79496312, 79496319-79496383, 79502078-79502175, 79502206-79502234, 79503172-79503293, 79503648-79503815, 79503901-79504106
272LPIN2180.99888517279822326912951113-2951115
273AFG3L2180.9853801169590635239412376991-12376992, 12377009-12377034, 12377041-12377042, 12377047-12377048, 12377076-12377077, 12377081
274NPC1180.998696898618715383721166267-21166271
275LAMA3180.99410117976405591000221269654-21269656, 21269660, 21269665-21269668, 21269670-21269720
276DSC3180.999256781865482269128622602, 28622615
277LOXHD1180.9977396021699815663644104521-44104534, 44104537
278MYO5B180.999278889489814554747721160-47721163
279CCBE1180.91646191646192102122157134050-57134054, 57134072, 57134081-57134082, 57134099-57134106, 57364451, 57364482-57364530, 57364539-57364574
280TNFRSF11A180.9729875742841750185159992591-59992640
281CTDP1180.92931392931393204288677439948-77440008, 77440015-77440084, 77440107-77440141, 77440175-77440179, 77440182-77440209, 77440219-77440221, 77440249, 77496470
282ELANE190.3047263681592559804852329-852358, 852369, 852380, 852383-852387, 852395, 852876-853032, 853262-853403, 855564-855596, 855612-855626, 855680-855686, 855695-855747, 855759, 855787, 855793, 855958-855993, 856009-856056, 856081, 856133-856135, 856142-856164
283KISS1R190.584795321637434971197917530-917595, 917604-917627, 917634-917658, 917692-917739, 918544-918589, 918601-918605, 918616-918617, 918620, 918625-918668, 919508, 919512-919518, 919565-919571, 919874-919878, 919885-919936, 919960-920003, 920072-920078, 920081-920084, 920106, 920290, 920300-920351, 920364-920381, 920500, 920582, 920699-920715, 920718-920721, 920735-920748
284STK11190.3102918586789689813021207019-1207045, 1218448, 1218468-1218499, 1219344-1219358, 1219381-1219412, 1220372-1220504, 1220580-1220654, 1220665-1220716, 1221212-1221292, 1221305-1221323, 1221331-1221339, 1221948-1222005, 1222997-1223171, 1226453-1226539, 1226545-1226646
285NDUFS7190.730529595015581736421383935-1383941, 1387810-1387833, 1388536-1388538, 1388542-1388544, 1388868, 1391004-1391011, 1391122-1391158, 1393241-1393245, 1393317-1393329, 1395390-1395400, 1395406-1395454, 1395467-1395471, 1395481-1395487
286GAMT190.62839506172843018101398797-1398803, 1398843-1398855, 1398862-1398868, 1398874-1398878, 1398884-1398887, 1398893, 1398899, 1398913-1398917, 1398949, 1399003-1399004, 1399127-1399144, 1399178-1399194, 1399523-1399524, 1399540-1399574, 1399802-1399816, 1399841-1399889, 1399927, 1401295-1401304, 1401329, 1401358-1401423, 1401429-1401454, 1401461-1401475
287RAX2190.454054054054053035553770635-3770676, 3770686-3770710, 3770748-3770794, 3770821, 3770824, 3770849-3770888, 3770927-3770957, 3771528-3771555, 3771570, 3771584-3771596, 3771600, 3771605, 3771617-3771619, 3771629-3771639, 3771655, 3771673-3771705, 3771717-3771740
288MAP2K2190.7381546134663331512034090596-4090616, 4090662-4090679, 4090684, 4090696, 4094494, 4095395-4095427, 4095446-4095447, 4097284-4097322, 4097334-4097341, 4099199-4099215, 4099226-4099230, 4099235-4099250, 4099254-4099258, 4099266-4099269, 4099312, 4099318-4099319, 4099348, 4099352, 4099362-4099363, 4099374, 4099405-4099412, 4101062-4101064, 4110587-4110606, 4117422-4117429, 4117436-4117440, 4123781-4123872
289NDUFA11190.9037558685446414265897008, 5903623-5903654, 5903688-5903695
290C3190.9789663461538510549926707109, 6707112-6707125, 6707141, 6707145, 6709710-6709734, 6713506-6713509, 6714004-6714062
291INSR190.986984815618225441497122906-7122909, 7122926-7122927, 7132320, 7150535-7150543, 7293862-7293899
292MCOLN1190.988525530694212017437594531-7594541, 7598504-7598512
293PNPLA6190.9746485943775110139847607699-7607710, 7614994-7614997, 7615214-7615217, 7615263-7615264, 7615269, 7615275-7615281, 7615505, 7615880-7615913, 7615925-7615930, 7615941-7615946, 7616248-7616252, 7616280-7616291, 7620159-7620165
294STXBP2190.989337822671161917827702051-7702066, 7707000, 7707194-7707195
295ADAMTS10190.9975845410628833128650098-8650104, 8670155
296TYK2190.7699214365881820356410461784-10461790, 10463110-10463155, 10463183-10463188, 10463204-10463227, 10463602-10463632, 10463672, 10463704-10463746, 10464205-10464275, 10464305-10464322, 10464728-10464777, 10464808-10464848, 10464871-10464891, 10465269-10465285, 10467244-10467250, 10467369-10467381, 10468440-10468503, 10468530-10468550, 10468695, 10468705-10468712, 10468747, 10468750-10468751, 10468799-10468814, 10469873-10469898, 10469923, 10469967-10469970, 10469973, 10473059, 10473062, 10473118-10473120, 10475313, 10475438-10475442, 10475625-10475627, 10475632, 10475645, 10475652, 10475712, 10476247-10476249, 10476273-10476297, 10476327-10476329, 10476369-10476382, 10476389-10476396, 10476410-10476439, 10476487-10476488, 10476491-10476492, 10478851-10478855, 10488900, 10488915-10489082
297LDLR190.9856755710414237258311216213-11216223, 11221409-11221413, 11221423-11221424, 11221427-11221428, 11224297-11224312, 11231183
298PRKCSH190.9905482041587915158711546950-11546952, 11558341-11558346, 11558551-11558556
299MAN2B1190.94993412384717152303612758347, 12759023-12759030, 12763177-12763181, 12767763-12767785, 12767817-12767818, 12767846-12767848, 12767857-12767870, 12768274-12768309, 12768341-12768344, 12768366, 12768896-12768932, 12769152-12769155, 12769313-12769324, 12777457-12777458
300GCDH190.994684889901297131713007040-13007046
301CACNA1A190.94535301156761411752113318146, 13318188-13318193, 13318270-13318271, 13318277-13318278, 13318281, 13318325-13318331, 13318351-13318384, 13318395, 13318398-13318414, 13318419, 13318472, 13318478, 13318493-13318535, 13318555-13318600, 13318616-13318625, 13318635-13318636, 13318646-13318716, 13318738-13318780, 13318803-13318809, 13319622-13319634, 13409447, 13409494, 13409567-13409612, 13409850-13409895, 13616894-13616900, 13616960
302NOTCH3190.96497272466265244696615285093, 15302330-15302358, 15302556-15302593, 15302665-15302678, 15302771-15302778, 15302819, 15302844, 15302895-15302917, 15302955, 15303028-15303053, 15303078, 15303195, 15303198, 15303254-15303256, 15311606-15311701
303JAK3190.96177777777778129337517940921-17940926, 17940957, 17940984, 17941021-17941027, 17953147-17953170, 17953205, 17953208, 17953224-17953266, 17953300-17953320, 17953333, 17953356-17953361, 17953881, 17953885-17953886, 17954695-17954701, 17955175-17955181
304SLC5A5190.9767080745341645193217983142, 17983220-17983223, 17984968-17984999, 17985304-17985310, 17986761
305IL12RB1190.94469582704877110198918177388-18177389, 18180451-18180460, 18182938, 18186610-18186618, 18186622-18186648, 18186673, 18186676, 18188381-18188393, 18188408, 18191770, 18191780, 18191784, 18191807, 18197570-18197604, 18197628-18197633
306COMP190.65127528583993793227418893947-18893978, 18893991-18894003, 18895001, 18895720-18895723, 18896347-18896350, 18896484-18896486, 18896489, 18896499-18896504, 18896507-18896508, 18896513-18896552, 18896566, 18896576-18896578, 18896648-18896661, 18896802-18896805, 18896809, 18896844, 18896875, 18896885-18896898, 18896921-18896927, 18896935, 18898300-18898332, 18898341, 18898354-18898367, 18898378-18898380, 18899021-18899060, 18899066-18899072, 18899101-18899128, 18899241-18899287, 18899401-18899439, 18899451-18899487, 18899512-18899528, 18899537-18899559, 18899983-18900106, 18900758, 18900765, 18900770-18900778, 18900782-18900822, 18900834-18900923, 18901371-18901382, 18901666-18901684, 18901690-18901722, 18902020-18902021, 18902060-18902078
307CEBPA190.51439182915506523107733792322-33792349, 33792416-33792419, 33792434, 33792486-33792487, 33792500, 33792569-33792616, 33792631-33792632, 33792681-33792694, 33792751-33792768, 33792770-33792775, 33792797, 33792801, 33792843-33792976, 33792983-33792989, 33792998, 33793001-33793006, 33793012-33793047, 33793057-33793058, 33793069-33793089, 33793108-33793111, 33793119, 33793122, 33793128-33793285, 33793295-33793320
308SCN1B190.950433705080554080735521725-35521764
309MAG190.9494949494949595188135790512, 35790602-35790608, 35790653-35790665, 35790672-35790675, 35790687-35790697, 35790749-35790752, 35791097-35791143, 35793367-35793373, 35800975
310PRODH2190.994413407821239161136297423, 36297966, 36303326-36303332
311TYROBP190.926253687315632533936398141, 36398153-36398155, 36398368, 36398443-36398445, 36398641, 36399072-36399087
312SDHAF1190.948275862068971834836486177-36486187, 36486231-36486234, 36486254-36486256
313WDR62190.9965004374453216457236595739-36595746, 36595785-36595786, 36595852-36595857
314RYR1190.970298339617654491511738931462-38931463, 38937178, 38976659-38976660, 38980002-38980009, 38987108-38987114, 38987505-38987510, 38987514-38987538, 38990381-38990389, 38991246-38991248, 38998421-38998425, 38998428, 39003109-39003112, 39003116, 39003120, 39055616-39055628, 39055636-39055643, 39055655-39055658, 39055702-39055708, 39055772-39055773, 39055781-39055791, 39055809-39055847, 39055861-39055880, 39055900-39055933, 39055944, 39055948-39055959, 39055967, 39055970, 39055982-39056074, 39056118, 39056122, 39056157-39056187, 39056212-39056242, 39056273-39056279, 39056352-39056359, 39068685, 39075583-39075630
315ACTN4190.90204678362573268273639138495-39138500, 39138506-39138512, 39138514-39138516, 39138527-39138543, 39214350-39214351, 39214356, 39214690-39214694, 39214797-39214814, 39214857-39214871, 39214964-39214979, 39215138, 39216464-39216471, 39218586-39218597, 39218651-39218666, 39219665, 39219699-39219700, 39219703-39219708, 39219738-39219745, 39219762-39219794, 39219921-39219922, 39219966-39220013, 39220023-39220063
316DLL3190.9886914378029121185739993591, 39993607, 39994780-39994798
317PRX190.9947560419516623438640909719-40909741
318TGFB1190.9599317988064847117341837061-41837074, 41854221-41854245, 41854354-41854360, 41858927
319BCKDHA190.997757847533633133841929011, 41929019-41929020
320ATP1A3190.999184339314853367842470968-42470970
321BCAM190.9692633810280958188745312406-45312407, 45312411-45312451, 45323963-45323974, 45324039-45324041
322APOE190.937106918238996095445411918-45411921, 45411933-45411969, 45412020-45412026, 45412118-45412121, 45412209-45412212, 45412250, 45412261-45412263
323BLOC1S3190.942528735632183560945682637-45682640, 45682847-45682852, 45682893-45682895, 45682922, 45682925-45682938, 45682990-45682996
324ERCC2190.9737187910643960228345867020, 45867102-45867120, 45867149-45867155, 45867165-45867169, 45867259, 45867282, 45867293-45867294, 45867362-45867369, 45867493-45867507, 45867533
325SIX5190.63333333333333814222046268775-46268808, 46268939, 46268970-46269008, 46269012, 46269019, 46269027, 46269031, 46269098-46269100, 46269103, 46269111, 46269118-46269119, 46269163, 46269172-46269173, 46269177, 46269180, 46269185, 46269188-46269189, 46269206-46269246, 46269355-46269361, 46269614-46269656, 46269670-46269690, 46269729-46269731, 46269734-46269736, 46269867-46269878, 46269898-46269908, 46269919, 46269944-46269954, 46269961-46269963, 46269967, 46269988, 46270005-46270008, 46270011-46270013, 46270018-46270020, 46270025, 46270084, 46270136-46270190, 46270197-46270201, 46270211-46270216, 46270361-46270384, 46271300-46271321, 46271331, 46271334, 46271348-46271357, 46271376-46271413, 46271465-46271476, 46271506-46271528, 46271557, 46271566-46271632, 46271662-46271663, 46271689-46271709, 46271723-46271743, 46271767-46271769, 46271772-46271773, 46271780-46271786, 46271794-46271795, 46271808, 46271818-46271984, 46272027-46272086
326DMPK190.86613756613757253189046273868-46273898, 46274229-46274261, 46280628, 46280638, 46280651-46280654, 46280691-46280704, 46280758, 46280764, 46281405, 46281413-46281415, 46281426-46281437, 46281440, 46281464-46281465, 46281761, 46281772-46281777, 46281852-46281868, 46282587, 46283052-46283055, 46283074-46283115, 46285451-46285468, 46285488, 46285493-46285515, 46285544-46285552, 46285578-46285593, 46285601-46285610
327FKRP190.72177419354839414148847258914-47258922, 47258970, 47259046-47259047, 47259050-47259056, 47259062, 47259068-47259083, 47259121-47259159, 47259187-47259189, 47259220-47259242, 47259249-47259251, 47259272-47259282, 47259330-47259392, 47259399-47259418, 47259424-47259546, 47259614-47259668, 47259674-47259703, 47259737-47259743, 47260080
328DBP190.631901840490836097849134094-49134122, 49134169-49134178, 49134181-49134183, 49134189-49134190, 49134193, 49134203-49134206, 49134248-49134254, 49138837-49138871, 49138881-49138920, 49138928-49139027, 49139054-49139056, 49139080-49139141, 49139172-49139209, 49139238-49139247, 49140205-49140220
329BCAT2190.99915182357931117949303505
330GYS1190.9679313459801371221449494646-49494673, 49494682, 49496287-49496299, 49496302-49496330
331MED25190.9612299465240687224450321623-50321654, 50321849-50321867, 50333141-50333150, 50334078-50334081, 50335404-50335414, 50338852-50338858, 50339185-50339187, 50339496
332MYH14190.9896907216494863611150764839-50764861, 50764867-50764892, 50770212-50770225
333KCNC3190.76473175021988535227450823543, 50823549, 50823567-50823580, 50826336-50826359, 50826396-50826399, 50826406, 50826411-50826429, 50826470-50826473, 50831669-50831673, 50831686, 50831719-50831738, 50831759-50831760, 50831764-50831779, 50831784, 50831790-50831802, 50831805-50831813, 50831884-50831930, 50831941-50832028, 50832031, 50832076-50832339
334NLRP12190.9930947897049622318654301665-54301666, 54313587-54313606
335PRKCG190.9622731614135679209454393145-54393146, 54401830-54401873, 54409615, 54409973-54409978, 54410071-54410096
336PRPF31190.45733333333333814150054621687-54621733, 54625264, 54625879-54625887, 54625892, 54625900, 54626890, 54626912-54626913, 54626918, 54627128-54627153, 54627187, 54627238-54627273, 54627881-54627883, 54627912-54627926, 54627939-54627972, 54628023, 54629903-54629915, 54629921-54629992, 54631448-54631575, 54631680-54631696, 54631702-54631752, 54632432-54632560, 54632647-54632745, 54634738-54634863
337TSEN34190.947481243301184993354695346-54695394
338TNNT1190.932826362484165378955644283-55644291, 55644299-55644302, 55645255-55645256, 55645262-55645263, 55645271-55645295, 55652297-55652304, 55652316, 55652664-55652665
339TNNI3190.99835796387521160955668452
340TPO20.9443254817987215628021481335-1481341, 1520655-1520754, 1544384, 1544387, 1544405-1544427, 1544432, 1544474-1544495, 1546238
341KLF1120.977257959714135153910183844-10183847, 10183855-10183885
342MYCN20.9784946236559130139516082548-16082553, 16082614-16082617, 16082906-16082924, 16082929
343POMC20.968905472636822580425384129-25384133, 25384313-25384319, 25384425-25384437
344OTOF20.9834834834834899599426696921-26696922, 26697385-26697389, 26697418-26697436, 26697460, 26698852, 26699112-26699114, 26699759-26699763, 26699777-26699778, 26699788-26699794, 26699805, 26699862-26699883, 26700133, 26702132-26702133, 26702171-26702184, 26702449, 26702452-26702464
345ALK20.999794365617931486330143491
346SPAST20.9756888168557545185132289016-32289037, 32289085-32289091, 32289095-32289097, 32289138-32289143, 32289213-32289219
347CYP1B120.81127450980392308163238301572, 38301584, 38301622-38301638, 38301698, 38301760-38301787, 38301852-38301858, 38301877-38301889, 38301939, 38301977-38302023, 38302035-38302041, 38302147-38302158, 38302191-38302241, 38302249-38302277, 38302288-38302307, 38302328-38302374, 38302417-38302431, 38302475-38302485
348ABCG520.999488752556241195644058993
349ABCG820.997032640949556202244099140-44099142, 44099393, 44099396, 44099432
350EPCAM20.956613756613764194547596645-47596675, 47596694-47596703
351MSH220.992156862745122280547630344-47630354, 47630443-47630451, 47630486-47630487
352MSH620.96595640460446139408348010432-48010490, 48010504-48010507, 48010515-48010550, 48010565, 48010580-48010604, 48010619-48010632
353NRXN120.999322033898313442551254750-51254752
354ATP6V1B120.998702983138782154271192113-71192114
355DYSF20.9933962264150942636071797794, 71825714-71825717, 71825781-71825794, 71827946, 71840505-71840508, 71847677-71847693, 71847724
356SPR20.811704834605614878673114597-73114618, 73114624-73114631, 73114639-73114678, 73114687, 73114710-73114755, 73114778-73114779, 73114782, 73114789-73114802, 73114807, 73114829-73114841
357ALMS120.99648112603967441250473613032-73613037, 73676476-73676479, 73676482-73676483, 73676767, 73676779, 73676918-73676930, 73678543, 73678789, 73678798-73678801, 73679055-73679058, 73679333-73679335, 73679365, 73679373, 73680512, 73828342
358MOGS20.9777247414478956251474688818-74688819, 74689089, 74689093, 74689952, 74692098-74692102, 74692185, 74692273, 74692327-74692370
359HTRA220.995642701525056137774757249-74757254
360GGCX20.9912165129556420227785788518-85788536, 85788551
361REEP120.99174917491749560686564606-86564607, 86564631-86564633
362EIF2AK320.96747239629961109335188926524-88926526, 88926546-88926585, 88926606-88926612, 88926661, 88926697-88926708, 88926717-88926758, 88926777-88926780
363TMEM12720.926080892608095371796930941-96930944, 96930984, 96931046-96931062, 96931078-96931108
364ZAP7020.9935483870967712186098340548, 98340551-98340556, 98340844-98340847, 98351153
365RANBP220.967545219638243149675109347230, 109347853-109347859, 109352099-109352148, 109357110-109357116, 109363167-109363174, 109367729, 109367874-109367901, 109368074-109368111, 109369454-109369497, 109369542-109369555, 109371656-109371662, 109374869-109374875, 109374973-109374993, 109382700-109382706, 109382918-109382925, 109383491, 109383675, 109383724-109383780, 109383792-109383798
366MERTK20.995153000112656314-112656327, 112656341
367GLI220.913463558076034124761121708863-121708869, 121708912-121708914, 121708997, 121728128-121728130, 121728134-121728135, 121745796-121745799, 121745881-121745889, 121745895-121745911, 121745980-121745997, 121746065-121746092, 121746139-121746140, 121746143-121746205, 121746213-121746219, 121746239-121746297, 121746311-121746316, 121746334, 121746339-121746346, 121746379-121746385, 121746431-121746446, 121746501-121746507, 121746538-121746542, 121746549, 121746557, 121746566-121746569, 121746603, 121746619-121746621, 121746630, 121746639, 121746681, 121746687, 121746774-121746809, 121747109-121747111, 121747114-121747116, 121747155-121747161, 121747177-121747204, 121747248, 121747344-121747369, 121747406-121747408, 121747456-121747461, 121747614, 121747617-121747618, 121747658-121747665, 121747673
368BIN120.98653198653199241782127864450-127864468, 127864515-127864519
369PROC20.95887445887446571386128178867-128178868, 128180493-128180504, 128180646-128180647, 128180670, 128180678-128180716, 128183783
370CFC120.78422619047619145672131279681, 131280363-131280406, 131280430-131280468, 131280742-131280750, 131280777-131280824, 131285348, 131285378, 131285411-131285412
371RAB3GAP120.9996605566870312946135888134
372NEB20.999349153900071319974152432744-152432748, 152432755, 152432798-152432804
373CHRNA120.9970887918486241374175618260-175618262, 175618371
374HOXD1320.95058139534884511032176957620-176957622, 176957688-176957730, 176957786-176957790
375AGPS20.9984825493171531977178257746-178257747, 178257750
376PRKRA20.993630573248416942179315693-179315697, 179315754
377TTN20.99853363658128147100248179418736-179418737, 179514904, 179542405-179542480, 179542497-179542564
378WNT10A20.95614035087719551254219745803-219745822, 219757756-219757790
379DES20.97027600849257421413220283200-220283212, 220283259, 220283271-220283281, 220283287-220283290, 220283441-220283447, 220283705-220283710
380OBSL120.979441222983661175691220417337-220417341, 220417344, 220435386-220435397, 220435403-220435409, 220435639-220435643, 220435655-220435702, 220435734-220435754, 220435770-220435775, 220435843, 220435876, 220435921-220435922, 220435939-220435940, 220435949-220435954
381SLC19A320.9906103286385141491228563530-228563535, 228563540-228563544, 228563993-228563994, 228564000
382AGXT20.890585241730281291179241808308-241808317, 241808358-241808366, 241808399-241808400, 241808403, 241808407-241808408, 241808633-241808647, 241808663, 241808666, 241808712-241808755, 241810061-241810092, 241810124-241810125, 241810766-241810775
383D2HGDH20.758620689655173781566242674640-242674644, 242674724-242674762, 242674797-242674804, 242674811-242674817, 242689588-242689606, 242689641-242689675, 242689686, 242689689, 242689699-242689709, 242690678-242690690, 242690771-242690782, 242690786, 242695349-242695351, 242695356-242695361, 242695406-242695429, 242707125-242707166, 242707179-242707211, 242707221-242707253, 242707276-242707342, 242707367-242707384
384AVP200.614141414141411914953063276, 3063321-3063372, 3063393-3063448, 3063626-3063666, 3063687-3063702, 3063748-3063756, 3063758-3063760, 3063770-3063781, 3063824
385JAG1200.9871479354662347365710653467, 10653508-10653525, 10653618-10653622, 10654127-10654142, 10654151-10654153, 10654156, 10654160, 10654177-10654178
386C20orf7200.99903660886321103813765934
387THBD200.9560185185185276172823028658-23028661, 23029399-23029408, 23029505, 23029508, 23029571-23029602, 23029671-23029674, 23029687, 23029713-23029719, 23029778-23029784, 23029891-23029895, 23029899-23029901, 23029906
388SNTA1200.83926218708827244151832000381-32000406, 32000466-32000467, 32031117-32031135, 32031145-32031146, 32031157-32031187, 32031197, 32031213-32031251, 32031259-32031262, 32031307-32031426
389GDF5200.996015936254986150634025152-34025157
390HNF4A200.9817543859649126142543052758, 43052773-43052775, 43052781-43052784, 43052807-43052808, 43052879-43052894
391ADA200.9807692307692321109243280216-43280236
392CTSA200.9933199732798910149744520238-44520243, 44520257-44520260
393CD40200.99760191846523283444756969-44756970
394SLC2A10200.997539975399754162645338376-45338379
395SALL4200.9930423782416222316250408342-50408363
396GNAS200.91598915989166273857415184-57415191, 57415244-57415249, 57415306-57415346, 57415893-57415899
397GNAS200.9592164418754127311457429092-57429101, 57429126-57429129, 57429269-57429297, 57429456-57429485, 57429497-57429503, 57429680-57429681, 57429690-57429691, 57429696-57429697, 57429753-57429755, 57429758, 57429895-57429902, 57430008-57430014, 57430190-57430200, 57430255-57430256, 57430380-57430388
398COL9A3200.52214111922141982205561448417-61448494, 61448919-61448987, 61449870-61449881, 61450579-61450604, 61450638-61450645, 61451281-61451300, 61452533-61452554, 61452561-61452568, 61452859-61452866, 61453109-61453129, 61453138-61453162, 61453463-61453516, 61453943-61453947, 61453972-61453984, 61455797-61455820, 61455832-61455838, 61455846, 61456320-61456373, 61457169-61457212, 61457218, 61457221, 61457556-61457609, 61458119-61458120, 61458134-61458172, 61458593-61458640, 61458646, 61459296-61459320, 61460116-61460127, 61460138-61460141, 61460159, 61460278-61460279, 61460301-61460323, 61460814-61460815, 61460823, 61460831-61460834, 61460980-61461020, 61461118-61461147, 61461167-61461171, 61461712-61461726, 61461735-61461765, 61461869-61461871, 61461884-61461940, 61464372-61464381, 61467539-61467550, 61467607-61467608, 61467617-61467625, 61467633, 61467659-61467665, 61467838, 61468482, 61468493-61468494, 61468505, 61468554-61468586, 61468601, 61472009
399CHRNA4200.273885350318471368188461978090-61978115, 61978134-61978150, 61978178-61978191, 61978203-61978207, 61981005-61981140, 61981163-61981182, 61981193-61981195, 61981235-61981258, 61981273-61981356, 61981385-61981428, 61981435-61981475, 61981485-61981487, 61981500-61981503, 61981514-61981686, 61981727-61981786, 61981812-61981851, 61981900-61981901, 61981937-61981985, 61982003-61982044, 61982075-61982108, 61982124, 61982141-61982189, 61982200-61982209, 61982243-61982340, 61982354-61982379, 61987347-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
400KCNQ2200.442153493699891461261962037997-62038069, 62038082-62038090, 62038122-62038241, 62038255-62038553, 62038564-62038569, 62038580-62038582, 62038596-62038602, 62038613, 62038628, 62038679, 62038692-62038703, 62038707-62038711, 62039783, 62039806-62039839, 62044845-62044852, 62044907-62044909, 62044913, 62046306-62046322, 62046360-62046363, 62046457-62046458, 62050979, 62059754-62059757, 62059788, 62065180, 62065187-62065191, 62069979, 62069991, 62069997-62069999, 62070002-62070006, 62070012, 62070951-62071006, 62071024-62071061, 62073759-62073884, 62076020-62076046, 62076049, 62076055-62076127, 62076148-62076187, 62076609-62076717, 62078108, 62078122-62078183, 62078189-62078190, 62103521-62103816
401SOX18200.0787878787878791064115562679527-62679592, 62679604-62679605, 62679630, 62679637, 62679651-62679659, 62679679-62679812, 62679823-62680315, 62680512-62680869
402APP210.9861651534803332231327542893-27542924
403IFNGR2210.9339250493096667101434775850-34775915, 34799292
404RCAN1210.8642951251646910375935987059-35987074, 35987077-35987080, 35987165, 35987174-35987185, 35987190-35987216, 35987236-35987278
405RUNX1210.9847539847539822144336164461-36164468, 36164599, 36164603-36164608, 36164723-36164724, 36164792-36164794, 36164900, 36164907
406CLDN14210.99722222222222272037833827-37833828
407CBS210.99698067632855165644478950, 44479042, 44479068-44479070
408CSTB210.949494949494951529745196085-45196099
409AIRE210.224664224664221270163845705890-45705991, 45705996-45706009, 45706440-45706462, 45706478-45706527, 45706538-45706539, 45706542-45706543, 45706579-45706614, 45706861-45706883, 45706890-45706926, 45706942-45707016, 45707423-45707474, 45708268, 45708271-45708300, 45708325-45708334, 45709540-45709543, 45709568-45709643, 45709650-45709662, 45709871-45709946, 45710978-45711034, 45711043, 45711063-45711068, 45711076-45711093, 45712195-45712214, 45712234, 45712250-45712251, 45712254-45712256, 45712258, 45712261-45712274, 45712876-45712921, 45712939-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717544-45717610
410ITGB2210.89004329004329254231046308608-46308615, 46308627-46308629, 46308633-46308639, 46308645-46308681, 46308727-46308735, 46308757-46308810, 46309208, 46309284-46309290, 46309339-46309365, 46309397, 46309921-46309947, 46309950, 46310001, 46311736-46311753, 46311777, 46311786-46311791, 46311837-46311841, 46313319-46313338, 46320354-46320373, 46320376
411COL18A1210.56733143399812278526546875465, 46875751-46875765, 46875809, 46875882-46875888, 46876034-46876040, 46876099-46876104, 46876185, 46876203-46876234, 46876260-46876268, 46876442, 46876474-46876479, 46876520-46876527, 46876540-46876580, 46876608-46876627, 46876646-46876669, 46876757-46876788, 46888156-46888181, 46888196-46888207, 46888228-46888251, 46888488-46888494, 46888532-46888562, 46888637, 46888643, 46895401-46895414, 46896313-46896317, 46896320-46896321, 46896329-46896331, 46896364-46896368, 46896380-46896385, 46898243, 46899839, 46899842-46899848, 46899852-46899878, 46900627, 46906775-46906798, 46906811-46906818, 46906828, 46906831, 46906844-46906857, 46906863, 46906877-46906881, 46906891-46906906, 46907361-46907376, 46907401-46907423, 46908332-46908339, 46908342, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911170, 46911175-46911177, 46911182-46911183, 46911187-46911228, 46912449-46912463, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915278-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925774, 46925790-46925880, 46927475-46927507, 46929305-46929380, 46929387-46929423, 46929436-46929505, 46929515, 46929978-46930082, 46930097-46930125, 46930130-46930131, 46930148-46930175, 46931025-46931048, 46931057-46931128, 46931139-46931140, 46932149, 46932173-46932187, 46932190-46932203, 46932217-46932220, 46932233-46932236, 46932240-46932241, 46932295-46932304
412COL6A1210.70165208940719921308747401765-47401861, 47402568-47402615, 47402628-47402677, 47404183-47404199, 47404206-47404215, 47404218-47404258, 47404268-47404383, 47406443-47406446, 47406449-47406464, 47406476-47406481, 47406484-47406485, 47406489-47406500, 47406518-47406559, 47406580-47406586, 47406905-47406976, 47406981-47406986, 47407414-47407433, 47407524-47407568, 47408999-47409051, 47409522-47409537, 47409561-47409566, 47409666-47409681, 47410172-47410198, 47410292-47410336, 47410739-47410740, 47410931, 47412121, 47412125, 47412128-47412131, 47414081-47414083, 47414129-47414143, 47417344-47417349, 47417358-47417360, 47417614-47417640, 47418064-47418085, 47418845, 47418856, 47418860, 47418867, 47419080-47419093, 47419102, 47419571-47419573, 47420262, 47422213, 47422530-47422550, 47423326-47423327, 47423503-47423505, 47423516, 47423526-47423527, 47423532, 47423542, 47423569-47423575
413COL6A2210.323202614379082071306047531391-47531505, 47531918-47531927, 47531949-47531965, 47531975-47531977, 47531986, 47531990-47532003, 47532010-47532015, 47532046, 47532049-47532072, 47532107-47532131, 47532164, 47532171, 47532187-47532210, 47532235-47532245, 47532260-47532289, 47532328-47532334, 47532391-47532412, 47532426-47532451, 47533935-47533958, 47535937-47535938, 47536291, 47536565-47536591, 47536684-47536728, 47537314-47537367, 47537788-47537850, 47538528-47538553, 47538561-47538590, 47538944, 47538965-47538985, 47538995, 47538998-47538999, 47539016, 47539019-47539020, 47539702-47539764, 47540429-47540491, 47540975-47540992, 47541005-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542445, 47542789-47542851, 47544593, 47544596-47544607, 47544616-47544627, 47544801-47544804, 47544812-47544834, 47545180-47545183, 47545401-47545417, 47545420, 47545445, 47545460-47545481, 47545492-47545531, 47545703-47545706, 47545714-47545716, 47545751-47545792, 47545810, 47545815, 47545818-47545846, 47545853-47545890, 47545903-47546019, 47546033-47546151, 47546423, 47546436-47546444, 47551868-47551934, 47551957-47552131, 47552137-47552182, 47552189-47552399, 47552417-47552423, 47552431-47552466
414COL6A2210.08771929824561431234247552189-47552399, 47552417-47552423, 47552431-47552524
415FTCD210.0049200492004921618162647556901-47556987, 47557153-47557248, 47558422-47558460, 47558469-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
416PCNT210.99140944960543861001147744143-47744196, 47787027-47787054, 47848366-47848369
417PRODH220.82418191902385317180318900788-18900791, 18900794, 18901004-18901018, 18905879-18905905, 18905964, 18905977, 18906995-18907001, 18908902, 18910373-18910382, 18910645-18910651, 18912612-18912630, 18912672, 18923528-18923613, 18923624-18923626, 18923630-18923643, 18923667-18923766, 18923772-18923778, 18923786-18923788, 18923791-18923800
418GP1BB22062162119711093-19711102, 19711377-19711987
419TBX1220.67809139784946479148819748428-19748599, 19748608-19748634, 19748645, 19748657-19748665, 19748670, 19748679-19748692, 19748715-19748716, 19748720, 19753302, 19753425-19753426, 19753449, 19753494-19753525, 19753912-19753973, 19753983, 19753986, 19753992-19754049, 19754069-19754091, 19754102-19754104, 19754107, 19754109, 19754118-19754123, 19754181-19754200, 19754283-19754312, 19754344-19754353
420SMARCB1220.9818652849740921115824129432-24129438, 24135746-24135751, 24175824-24175831
421CHEK2220.89948892674617177176129083895-29083927, 29083941-29083966, 29085163-29085194, 29090020-29090057, 29091173-29091203, 29126452-29126468
422NF2220.9882550335570521178830000006-30000026
423MYH9220.9981302056773811588336696211-36696216, 36696921, 36700090, 36700093, 36712694, 36712697
424TRIOBP220.93786982248521441709838119883-38119905, 38120006-38120052, 38120150-38120185, 38120222-38120228, 38120300-38120346, 38120369-38120375, 38120447-38120453, 38121842-38121843, 38121916-38121920, 38122282, 38122435-38122448, 38122462, 38122477-38122505, 38129332-38129338, 38129384-38129419, 38130431-38130448, 38130460, 38130463, 38130472, 38130526-38130532, 38130535, 38130609-38130620, 38130903-38130906, 38130910-38130954, 38130988-38131001, 38131037, 38131324, 38131389-38131417, 38131431-38131432, 38153676, 38153915-38153927, 38153934-38153938, 38154118, 38154132-38154140, 38161728-38161729, 38165155-38165158
425SOX10220.9921484653818711140138379539-38379549
426PLA2G6220.3292433537832332848938508300, 38508511-38508556, 38508577-38508584, 38509494-38509527, 38509559-38509582, 38509596-38509597, 38509600-38509617, 38509623-38509653, 38509667-38509710, 38509738-38509777, 38509790-38509869
427PLA2G6220.78893019413466511242138508168-38508184, 38508203-38508273, 38508300, 38508511-38508556, 38508577-38508584, 38509494-38509527, 38509559-38509582, 38509596-38509597, 38509600-38509617, 38509623-38509653, 38511539-38511582, 38511595-38511688, 38512118-38512119, 38512150-38512152, 38512155-38512163, 38512207-38512218, 38516854-38516858, 38516869-38516871, 38519102-38519146, 38519155, 38519193-38519194, 38519199-38519201, 38519236-38519247, 38524357-38524367, 38524371-38524372, 38528916-38528924, 38529003-38529004
428EP300220.999033816425127724541489044, 41573209-41573210, 41574377-41574379, 41574383
429TNFRSF13C220.3567567567567635755542321472, 42322105-42322329, 42322642-42322727, 42322733-42322777
430CYB5R3220.976821192052982190643045301-43045321
431ATXN10220.9691876750700344142846067954-46067962, 46068025-46068059
432TRMU220.9257503949447194126646731692-46731740, 46746352-46746355, 46751341-46751350, 46751363-46751383, 46751450, 46751942, 46752853-46752860
433ALG12220.91002044989775132146750297659-50297660, 50301472-50301484, 50301549, 50301556, 50301560-50301578, 50303568-50303581, 50303621-50303624, 50303687-50303715, 50304094, 50304124-50304151, 50307274-50307287, 50307379-50307384
434MLC1220.9391534391534469113450502466-50502494, 50502547, 50502589-50502627
435SCO2220.88764044943829080150962084-50962088, 50962097, 50962118, 50962208, 50962417-50962419, 50962569-50962614, 50962649-50962665, 50962670-50962674, 50962782, 50962813-50962815, 50962824, 50962827-50962830, 50962833, 50962840
436TYMP220.36369910282954922144950964199-50964270, 50964279-50964347, 50964430-50964570, 50964675-50964817, 50964823-50964905, 50965005-50965167, 50965609, 50965633-50965676, 50965684-50965712, 50966027, 50966040, 50966050, 50966130, 50966134, 50966957, 50966960, 50966973, 50967614-50967616, 50967628, 50967637, 50967644-50967647, 50967651-50967657, 50967670, 50967673-50967674, 50967686-50967688, 50967694, 50967698, 50967720-50967760, 50967938-50967956, 50967988-50968041, 50968108-50968138
437ARSA220.91994750656168122152451063593-51063598, 51063616, 51063620, 51063624-51063631, 51063652-51063680, 51063826-51063839, 51064038-51064039, 51064050, 51064075, 51064085-51064092, 51064384-51064385, 51064469-51064484, 51065269-51065277, 51065641, 51066110-51066122, 51066170-51066174, 51066197-51066201
438SHANK3220.533943554538522444524451113070-51113132, 51113476-51113562, 51113580-51113679, 51115106-51115121, 51117017-51117058, 51117076-51117121, 51117197-51117348, 51117447-51117472, 51117484-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123021, 51123035-51123079, 51133206-51133211, 51133234-51133236, 51133246, 51133258-51133296, 51133317, 51133353-51133387, 51133462, 51135671-51135719, 51135951-51136143, 51137118-51137177, 51137189-51137194, 51143215-51143224, 51143256-51143267, 51143272, 51143480-51143486, 51144500-51144502, 51144511-51144538, 51158699, 51158707-51158720, 51158724, 51158737, 51158740-51158754, 51158763-51158811, 51158835-51158865, 51158899-51159035, 51159050-51159075, 51159099-51159100, 51159133-51159157, 51159186, 51159190-51159206, 51159212-51159219, 51159224, 51159228-51159278, 51159293-51159303, 51159325-51159359, 51159368, 51159376, 51159415-51159430, 51159455-51159470, 51159506-51159554, 51159587-51159597, 51159608-51159609, 51159614, 51159721-51159750, 51159822-51159829, 51159929-51159956, 51160009-51160016, 51160058, 51160314-51160343, 51169149-51169168, 51169180-51169235, 51169251-51169269, 51169278-51169328, 51169367-51169373, 51169384-51169419, 51169442-51169449, 51169477-51169615, 51169628-51169740
439FANCD230.9884510869565251441610088340-10088346, 10107087-10107116, 10107165-10107171, 10114941-10114947
440VHL30.876947040498447964210183571-10183577, 10183646, 10183653, 10183699-10183742, 10183801-10183803, 10183841-10183863
441CRTAP30.9867330016583716120633155599, 33155864-33155878
442SCN5A30.99881134318227588938592074-38592076, 38616803, 38616806, 38616811, 38616815
443TMIE30.7581699346405211145946742914-46742915, 46742962-46743070
444TMIE30.796178343949049647146742978-46743070, 46751074-46751076
445TREX130.99819819819822111048508245, 48508636
446COL7A130.98777589134126108883548612905-48612908, 48612919-48612922, 48612925, 48613096-48613102, 48613120, 48613166, 48613169, 48613311, 48613314, 48616708, 48620042, 48622548-48622549, 48623596-48623602, 48623611-48623612, 48624932, 48624938, 48625247-48625251, 48625254-48625263, 48625266, 48625306, 48625312-48625317, 48625331, 48626091, 48626197, 48626843, 48626846-48626876, 48627100, 48627103-48627104, 48627134, 48627142-48627151
447SLC25A2030.953642384105964290648896526, 48936168-48936193, 48936213-48936227
448LAMB230.92699647952566394539749158677, 49158750-49158764, 49158986-49158999, 49159450, 49159477-49159478, 49159697-49159699, 49159702, 49160137-49160140, 49160253-49160256, 49160288, 49160304-49160305, 49160318-49160357, 49160750, 49160759-49160760, 49161185-49161190, 49161408-49161413, 49161699-49161719, 49161943-49161978, 49162010-49162025, 49162134-49162156, 49162195-49162201, 49162463-49162465, 49162530-49162561, 49162569-49162595, 49162733, 49162758-49162760, 49162812-49162816, 49162832, 49162874-49162917, 49163228, 49166463-49166466, 49167068-49167076, 49167306-49167314, 49167799-49167812, 49167817, 49167834-49167852, 49168289, 49168401, 49168409, 49169119-49169125, 49170239-49170243
449GNAT130.9876543209876513105350231546-50231549, 50231611-50231612, 50232003-50232006, 50232248, 50232254-50232255
450HYAL130.9900611620795113130850338494, 50339605, 50339608-50339618
451TKT30.9615384615384672187253289852-53289865, 53289873-53289909, 53289930-53289950
452FLNB30.9983352541938813780957994385, 57994437-57994447, 58139167
453ATXN730.91789992952784233283863898294-63898350, 63898363, 63898389-63898390, 63898411-63898560, 63898577-63898599
454PROK230.98717948717949539071834157-71834161
455ARL13B30.9658119658119744128793761868-93761883, 93761938-93761946, 93761986, 93762017-93762018, 93762032-93762033, 93762071-93762084
456CPOX30.99706959706964136598312152-98312155
457RHO30.9961795606494741047129251460-129251463
458NPHP330.97896318557476843993132438549-132438565, 132438592, 132438655-132438657, 132438669, 132440991-132441012, 132441037-132441061, 132441078-132441084, 132441147-132441154
459FOXL230.94871794871795581131138664659-138664663, 138664834-138664852, 138664863-138664866, 138664874-138664901, 138665119, 138665129
460ALG330.96507213363705461317183966588-183966633
461CLCN230.97923618835743562697184070103, 184070929-184070930, 184071144, 184071450-184071452, 184071479-184071480, 184072023-184072069
462CPN230.99755799755841638194062193-194062196
463PDE6B40.915789473684212162565619519-619552, 647647-647649, 647655-647666, 647669, 647713-647741, 647777, 647869-647874, 647906, 647922, 648613-648624, 648626-648648, 649779-649780, 650060-650064, 650678, 650700, 650800-650808, 650811, 651158-651179, 651228, 652741-652774, 657593, 657596, 657631, 659049-659051, 659057-659059, 659117-659118, 660396-660398, 661754, 661757, 663835
464IDUA40.1890927624872615911962980873-981030, 981597-981737, 994413-994424, 994426, 994431-994432, 994443-994479, 994722-994763, 994769-994777, 995289-995343, 995467-995556, 995572-995578, 995589-995647, 995770-995827, 995847-995949, 996057-996078, 996094-996096, 996102-996121, 996140-996149, 996160-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997413, 997809-997821, 997824-997831, 997838-997875, 997892-997900, 998060-998063, 998068, 998091-998118, 998139-998143, 998169-998172
465FGFR340.58632056036259100424271795662-1795755, 1795761-1795770, 1800981-1801081, 1801094-1801145, 1801173-1801223, 1801232, 1801474-1801478, 1801499-1801539, 1803094, 1803115, 1803127-1803128, 1803139-1803155, 1803159, 1803188-1803260, 1803347-1803366, 1803395-1803424, 1803434-1803470, 1803587-1803600, 1803622-1803667, 1803678-1803698, 1803704, 1803713, 1803722-1803738, 1804665-1804683, 1804686, 1806059-1806100, 1806221, 1806611-1806613, 1806637-1806682, 1807133-1807146, 1807286-1807294, 1807373-1807381, 1807386, 1807389-1807391, 1807477-1807509, 1807524-1807530, 1807651-1807652, 1807881, 1808049, 1808275-1808323, 1808398-1808403, 1808556-1808562, 1808573, 1808577-1808578, 1808847-1808937, 1808971-1808989
466SH3BP240.962843295638136918572819978, 2820024-2820040, 2820072-2820081, 2820090-2820091, 2820094, 2820097-2820100, 2820105-2820115, 2831341, 2831383-2831386, 2835516-2835527, 2835533-2835538
467HTT40.9612896383497736594293076553-3076554, 3076600-3076603, 3076604-3076815, 3234966, 3240276-3240298, 3240323-3240325, 3240635-3240673, 3240683-3240702, 3241586-3241591, 3241645-3241650, 3241738-3241786
468DOK740.6105610561056159015153465103, 3465119-3465124, 3465128, 3465233-3465246, 3465255-3465278, 3475140-3475142, 3475145-3475159, 3475171-3475173, 3475304-3475317, 3475350-3475357, 3475362, 3478073-3478104, 3478139-3478149, 3478172-3478189, 3478265-3478267, 3487364, 3494497-3494514, 3494555, 3494574-3494589, 3494597-3494600, 3494616-3494642, 3494646-3494717, 3494721-3494724, 3494744-3494750, 3494761-3494795, 3494808, 3494821-3494856, 3494865-3494888, 3494898, 3494949-3494992, 3494999-3495069, 3495075-3495116, 3495125-3495154, 3495181, 3495187
469DOK740.380710659898483665913494497-3494514, 3494555, 3494574-3494589, 3494597-3494600, 3494616-3494642, 3494646-3494717, 3494721-3494724, 3494744-3494750, 3494761-3494795, 3494808, 3494821-3494856, 3494865-3494888, 3494898, 3494949-3494992, 3494999-3495069, 3495075-3495079
470EVC240.996434937611411439275570275-5570283, 5710031, 5710035-5710037, 5710043
471EVC40.971466935213168529795713108-5713114, 5713139-5713141, 5713167, 5713175, 5713182-5713217, 5713223-5713259
472WFS140.995510662177331226736279214-6279225
473QDPR40.99319727891156573517513587-17513590, 17513631
474COQ240.994805194805196115584205926-84205931
475CDS140.99927849927851138685504615
476PKD240.9893360853113231290788928936-88928951, 88928956, 88928965-88928968, 88929009, 88929012, 88929059-88929061, 88929075-88929079
477CISD240.9264705882352930408103808512-103808522, 103808569-103808587
478HADH40.99894179894181945108911163
479MFSD840.998073217726431557128859977, 128859986-128859987
480GK40.9927797833935121662166199600-166199610, 166199763
481SDHA50.705263157894745881995218471-218478, 218491-218504, 223627-223657, 223682-223683, 225642-225677, 228319-228325, 228378-228399, 228428-228438, 233592-233598, 233689-233697, 235289-235295, 235367-235394, 235406-235449, 236553-236559, 236584-236619, 236646-236681, 236693-236699, 240498-240527, 251108-251149, 251173-251218, 251465-251471, 251500-251546, 251562-251583, 254526-254532, 254571-254577, 254606-254621, 256449-256475, 256511-256535
482SLC6A1950.7905511811023639919051201766-1201967, 1208883-1208885, 1208972-1208988, 1210559-1210566, 1210643, 1212464-1212512, 1212532, 1212571-1212578, 1213578-1213643, 1213674-1213688, 1214068-1214070, 1214090, 1216972-1216990, 1219622, 1219742-1219746
483TERT50.47337452191821179033991253921-1253928, 1254528-1254532, 1254602-1254616, 1258714, 1258741, 1258753, 1264589-1264590, 1264706, 1268635-1268638, 1268643, 1268678-1268697, 1271274-1271301, 1272307-1272349, 1272373-1272379, 1278756-1278757, 1278811-1278849, 1279418-1279503, 1279511-1279543, 1279549-1279585, 1280273-1280310, 1280320-1280339, 1280353-1280389, 1280402-1280428, 1280437-1280453, 1282658-1282661, 1282703-1282739, 1293428-1293448, 1293533-1293549, 1293575-1293648, 1293654-1293675, 1293689-1293691, 1293694-1293704, 1293718-1293825, 1293834-1293899, 1293913-1293975, 1293989, 1293999-1294001, 1294013, 1294029-1294062, 1294070-1294103, 1294114, 1294117-1294120, 1294128, 1294131-1294151, 1294157-1294218, 1294227-1294236, 1294259-1294384, 1294391-1294467, 1294474-1294495, 1294507-1294781, 1294886-1295104
484SLC6A350.8003220611916337218631406311-1406359, 1409154-1409177, 1409191-1409196, 1409225-1409240, 1409836-1409853, 1409906-1409964, 1411368-1411371, 1411381-1411396, 1411405, 1411411-1411412, 1411432-1411439, 1411443-1411468, 1414829-1414895, 1414926-1414930, 1420760-1420809, 1422109-1422129
485SDHA50.614678899082571263271589387, 1589426-1589432, 1593243-1593285, 1593323-1593358, 1594510-1594548
486NDUFS650.904363751801532, 1801554-1801562, 1801581-1801602, 1801633-1801635, 1801663
487DNAH550.9995675675675761387513867915-13867920
488FAM134B50.9725568942436441149416616797-16616837
489ERCC850.995801847187245119160200653-60200657
490HEXB50.9928186714542212167173981116-73981120, 73981237, 73981241-73981246
491ARSB50.998127340823973160278281041-78281043
492RASA150.9965012722646311314486564294, 86564540-86564544, 86564548-86564551, 86670045
493GPR9850.9997885946831641892190144595-90144598
494APC50.9998827941865918532112111326
495LMNB150.818852924474733191761126113201-126113263, 126113274-126113319, 126113347-126113555, 126156757
496SLC22A550.9910394265233151674131705666, 131705804, 131705947-131705959
497TGFBI50.99463937621832112052135364809-135364819
498MYOT50.9966599866399551497137221859-137221863
499SIL150.999278499278511386138283106
500DIAPH150.9997381513485213819140953310
501TCOF150.99449035812672244356149737310-149737323, 149737364-149737365, 149748378, 149748407-149748413
502NIPAL450.997144896502541401156887233-156887236
503NKX2-550.9887179487179511975172659836-172659840, 172659918-172659923
504MSX250.8830845771144394804174151699-174151701, 174151704-174151708, 174151715, 174151732, 174151752-174151769, 174151779, 174151781-174151787, 174151854, 174151858-174151867, 174151873, 174151893-174151931, 174156522-174156528
505F1250.9261168384879743582176830266, 176830319-176830360
506F1250.883658008658012151848176830266, 176830319-176830360, 176830482-176830493, 176830515-176830520, 176830523-176830524, 176830553, 176830556, 176830587-176830598, 176830863-176830903, 176830951, 176830967-176831004, 176831057, 176831090-176831091, 176831358, 176831542-176831573, 176831615-176831630, 176832067-176832071, 176832372
507NHP250.99783549783551462177580660
508GRM650.97304479878512712634178415982, 178421564, 178421567-178421589, 178421662-178421689, 178421783-178421789, 178421882, 178421889-178421892, 178421933, 178421937-178421941
509SQSTM150.94255479969766761323179247971-179247990, 179248015-179248033, 179248041-179248052, 179248070, 179248084, 179248119-179248141
510FLT450.329178885630527454092180043388, 180043402-180043406, 180043452-180043456, 180043480-180043489, 180045770-180045920, 180046021-180046109, 180046253-180046276, 180046298-180046366, 180046665-180046769, 180047173-180047308, 180047623-180047715, 180047876-180047919, 180047930-180047933, 180047935, 180047943-180047963, 180047977-180048007, 180048106-180048252, 180048542-180048598, 180048618-180048667, 180048672, 180048695-180048750, 180048791-180048799, 180048811-180048904, 180049732-180049791, 180049812-180049839, 180050935-180050965, 180050974-180051003, 180051029-180051061, 180052869-180052968, 180052971-180052977, 180052993-180053031, 180053111-180053174, 180053187-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057303, 180057322-180057337, 180057555-180057563, 180057578-180057799, 180058682-180058778, 180076488-180076545
511FOXC160.6227436823104762716621610754-1610816, 1610859-1610863, 1610865-1610869, 1610877, 1610894-1610908, 1610943-1610947, 1611013-1611023, 1611086-1611126, 1611155-1611225, 1611271-1611282, 1611308-1611328, 1611370-1611402, 1611408-1611410, 1611413-1611436, 1611451, 1611462, 1611468-1611471, 1611481-1611482, 1611492-1611529, 1611558-1611561, 1611568, 1611572-1611576, 1611601-1611731, 1611784-1611831, 1611866-1611870, 1611896-1611923, 1611940, 1612014-1612045, 1612110-1612113, 1612142-1612144, 1612149-1612152, 1612206-1612210
512TUBB2B60.8811659192825115913383225015, 3225049-3225052, 3225055-3225056, 3225059, 3225097-3225098, 3225123-3225125, 3225164-3225173, 3225226-3225268, 3225326, 3225365-3225375, 3225402-3225423, 3225436-3225464, 3225478-3225496, 3225595-3225596, 3225688, 3225731-3225737, 3225922
513DTNBP160.9895833333333311105615533477-15533478, 15533485, 15663059-15663066
514ATXN160.9689542483660176244816327525-16327527, 16327541, 16327862-16327933
515ALDH5A160.9708561020036448164724495236-24495255, 24495293-24495294, 24495298, 24495357-24495381
516HLA-H60.44441775029855764-29855783, 29855795, 29855800-29855808, 29855814-29855820, 29855834, 29855843-29855891, 29855901, 29855904, 29855916, 29855935, 29855938-29855962, 29855975-29855978, 29855999, 29856244-29856447, 29856456-29856477, 29856513-29856572, 29856584-29856586, 29856596, 29856611, 29856633, 29856643, 29856679, 29856686, 29856711
517NEU160.997596153846153124831829842-31829843, 31830526
518TNXB60.93468118195956126192931976916, 31976926, 31977120-31977127, 31977388-31977394, 31977514-31977555, 31977786-31977792, 31977998, 31978051, 31978498-31978517, 31979417-31979429, 31979436, 31979453, 31979461, 31979476-31979497
519CYP21A260.91129032258065132148832006200-32006204, 32006211, 32006215-32006217, 32006228-32006232, 32006241-32006243, 32006314-32006342, 32006886, 32006957, 32007176-32007180, 32008195-32008198, 32008448-32008461, 32008661, 32008670, 32008685, 32008717-32008759, 32008893-32008907
520TNXB60.984444968182891981272932009648-32009664, 32009855-32009866, 32009919-32009925, 32010123-32010129, 32010245-32010289, 32010520-32010526, 32010728-32010735, 32010785, 32011232-32011251, 32012279, 32012312-32012354, 32012381, 32012394, 32013010-32013029, 32026052-32026053, 32026107, 32029189-32029193
521HLA-DQA160.923177083333335976832609126, 32609144-32609150, 32609169, 32609181, 32610387-32610406, 32610510-32610538
522HLA-DQB160.6768447837150125478632629224-32629234, 32629799-32629805, 32629859, 32629863-32629865, 32629876, 32629891-32629893, 32629935-32629936, 32630025, 32632575-32632798, 32632818
523SYNGAP160.9833829365079467403233388042-33388108
524FANCE60.9888268156424618161135420406-35420423
525TULP160.991405770411314162935479574, 35479962-35479964, 35479978-35479987
526MOCS160.79277864992151396191139893422-39893515, 39893518-39893542, 39893553-39893559, 39893570-39893589, 39895068-39895317
527PEX660.9949031600407715294342936682, 42946467-42946473, 42946645-42946651
528RSPH960.977135980746091983143612855-43612860, 43612910-43612912, 43612954-43612963
529RUNX260.9636015325670557156645390466-45390522
530EYS60.999788023317442943565016974-65016975
531RIMS160.998227997637339507972892343-72892351
532PDSS260.997531200107780270-107780271, 107780301
533OSTM160.92835820895522721005108395585-108395587, 108395703-108395714, 108395729-108395762, 108395798-108395804, 108395825-108395840
534ENPP160.99172066234701232778132129206-132129210, 132129240-132129244, 132129254-132129256, 132129336-132129345
535TBP60.901960784313731001020170871010-170871109
536LFNG70.2087719298245690211402559496-2559927, 2564329-2564377, 2564855-2564925, 2565048-2565072, 2565081-2565201, 2565319-2565320, 2565337-2565404, 2565878-2565880, 2565899-2565912, 2565915, 2566005-2566025, 2566033, 2566470-2566509, 2566516-2566555, 2566792-2566805
537PMS270.987253765932793325896026876-6026877, 6026984-6026991, 6048628-6048650
538TWIST170.6075533661740623960919156550, 19156561-19156563, 19156572, 19156616-19156621, 19156627, 19156632-19156636, 19156645-19156705, 19156744-19156773, 19156788-19156882, 19156901-19156936
539DNAH1170.9997789566755131357221630953-21630955
540HOXA1370.68808911739503364116727239203-27239232, 27239255-27239283, 27239294-27239352, 27239367-27239590, 27239598-27239619
541GLI370.9685852835758149474342004625-42004626, 42004633, 42004638-42004650, 42004694-42004700, 42004895, 42004903-42004907, 42005114-42005131, 42005160-42005175, 42005213-42005223, 42005483, 42005537, 42005548-42005557, 42005598-42005615, 42005623-42005624, 42005678, 42005729, 42005733-42005750, 42005884-42005901, 42005965-42005968, 42006045
542PGAM270.99606299212598376244104846-44104848
543GCK70.9735902926481137140144186079-44186089, 44191871-44191873, 44191878-44191890, 44191911-44191914, 44193049-44193054
544CCM270.74606741573034339133545039933-45039962, 45113059-45113104, 45113122, 45113128-45113140, 45113145, 45113155-45113170, 45113870-45113938, 45113955-45114007, 45115376-45115378, 45115421-45115430, 45115453, 45115455-45115469, 45115511-45115516, 45115547-45115612, 45115633, 45115636-45115640, 45115644-45115645, 45115653
545EGFR70.9917423616845630363355086985-55087013, 55220297
546ASL70.83225806451613234139565547421-65547423, 65551572-65551573, 65551733-65551742, 65552328-65552331, 65552757-65552761, 65553817-65553834, 65553839-65553847, 65553875-65553888, 65554078-65554109, 65554263-65554303, 65554320-65554322, 65554599-65554637, 65557000-65557013, 65557544-65557557, 65557633-65557650, 65557767-65557773, 65557865
547KCTD770.8436781609195413687066094052-66094187
548NCF170.881212121212129882572639957-72639989, 72640019-72640039, 72645924-72645930, 72648672, 72648694-72648696, 72648718-72648750
549ELN70.92229885057471169217573442518-73442546, 73442553-73442586, 73466083-73466087, 73466154, 73466257-73466292, 73466297-73466302, 73474216-73474250, 73474287-73474293, 73474706-73474714, 73477491-73477494, 73477522, 73477526, 73477662
550NCF170.81329923273657219117374193656-74193675, 74197341-74197342, 74197365, 74197385-74197391, 74197911-74197917, 74202374-74202376, 74202398-74202430, 74202903-74202925, 74202950-74202974, 74202992-74203008, 74203011, 74203025-74203048, 74203383-74203386, 74203392-74203393, 74203422-74203471
551POR70.28438570729321462204375608769-75608791, 75608868-75608881, 75609657-75609699, 75609706-75609709, 75609752-75609771, 75609778-75609806, 75610366-75610445, 75610455-75610490, 75610835-75610850, 75610867-75610877, 75610903-75610920, 75611566-75611621, 75612859-75612885, 75612914-75612954, 75613056-75613117, 75613148-75613174, 75614095-75614276, 75614376-75614525, 75614897-75615095, 75615110-75615167, 75615241-75615386, 75615477-75615559, 75615655-75615741, 75615745-75615780, 75615786-75615799
552HSPB170.962783171521042361875932237-75932246, 75932253, 75932257, 75932282-75932292
553AKAP970.9996588195155241172491714904-91714907
554PEX170.9974039460020810385292157643-92157650, 92157688-92157689
555TFR270.98503740648379362406100231039-100231049, 100231095, 100238614-100238616, 100238651-100238665, 100238748-100238753
556CFTR70.974566734188611134443117188713-117188753, 117188760-117188800, 117188847-117188877
557AASS70.9992808342322922781121769566, 121769570
558IMPDH170.96611111111111611800128045878-128045883, 128045894, 128045899-128045900, 128045914, 128049815-128049816, 128049819-128049838, 128049848-128049862, 128049874, 128049884-128049895, 128049911
559FLNC70.974321349963322108178128470692-128470694, 128470753-128470765, 128470780-128470803, 128470830-128470871, 128470902, 128470909, 128470912-128470915, 128470944-128470965, 128471001, 128471004, 128471010-128471020, 128471024, 128477242, 128477245, 128477256-128477298, 128477459, 128478481, 128478758, 128483580-128483604, 128489235-128489240, 128498187-128498193
560ATP6V0A470.9996036464526412523138394457
561BRAF70.99435028248588132301140624405-140624410, 140624414-140624420
562PRSS170.948924731182838744142458483-142458512, 142459676-142459682, 142460369
563CLCN170.9986518368722642967143042696-143042699
564CNTNAP270.999499499499523996146536822-146536823
565KCNH270.93160919540232383480150655542-150655543, 150671809-150671845, 150671852, 150671864-150671963, 150671981, 150672009-150672029, 150674926-150675001
566SHH70.310295176385899581389155595594-155596071, 155596080-155596085, 155596092-155596093, 155596100-155596269, 155596276-155596294, 155596309-155596420, 155599029, 155599040-155599104, 155599111, 155599116-155599121, 155599147-155599188, 155599205-155599224, 155599244, 155604770-155604804
567MNX170.647595356550584251206156798289, 156798293, 156798408-156798416, 156799263-156799269, 156802457, 156802467, 156802526-156802533, 156802584-156802607, 156802627-156802855, 156802873, 156802875-156802990, 156802998, 156803011-156803034, 156803038-156803039
568MCPH180.99720893141946725086264192-6264198
569GATA480.89089541008277145132911565854, 11565858-11565877, 11565883-11565897, 11565931-11565938, 11565942, 11565968-11565972, 11566005-11566008, 11566011, 11566078-11566080, 11566095-11566105, 11566138-11566160, 11566168-11566169, 11566179-11566196, 11566246-11566250, 11566261-11566267, 11566281, 11566283-11566290, 11566324, 11566401-11566411
570NEFL80.995098039215698163224813415-24813422
571CHRNA280.9836477987421426159027320622-27320625, 27321197-27321218
572ADAM980.998780487804883246038854636-38854638
573HGSNAT80.93815513626834118190842995640-42995757
574TTPA80.99283154121864683763998484-63998489
575TMEM7080.99106002554278778374888571-74888577
576GDF680.9912280701754412136897157314-97157320, 97157571-97157575
577VPS13B80.998916124729031311994100880616-100880628
578TRPS180.996138996139153885116426266-116426280
579KCNQ380.9988545246277232619133492562, 133492577-133492578
580NDRG180.9991561181434611185134251214
581SLURP180.051282051282051296312143822561-143822694, 143823221-143823229, 143823236-143823340, 143823756-143823803
582CYP11B180.98611111111111211512143958513-143958533
583CYP11B280.98412698412698241512143993951-143993953, 143996536-143996556
584PLEC80.43507648523657794014055144990379-144990389, 144990395-144990437, 144990450, 144990521-144990557, 144990605-144990654, 144990725-144990727, 144990745-144990749, 144990753-144990757, 144990770-144990773, 144990777, 144990783-144990794, 144990928, 144991033-144991040, 144991299-144991316, 144991370-144991399, 144991448-144991450, 144991791-144991794, 144991875, 144991964-144991974, 144992070-144992079, 144992270, 144992322-144992330, 144992384-144992409, 144992421, 144992453, 144992460, 144992467, 144992537-144992541, 144992579-144992581, 144992632, 144992694, 144992735, 144992761, 144992791-144992820, 144992838-144992854, 144992857, 144992958, 144992965, 144992969-144992971, 144992974, 144993017-144993063, 144993081, 144993085, 144993088, 144993091-144993095, 144993195-144993206, 144993236-144993253, 144993353, 144993364-144993381, 144993395-144993417, 144993447-144993482, 144993501-144993527, 144993595-144993638, 144993643, 144993714-144993720, 144993746-144993772, 144993827-144993850, 144993853-144993859, 144993871-144993872, 144993882-144993922, 144993945, 144993950, 144993958-144993986, 144994014-144994034, 144994112, 144994192-144994194, 144994291-144994319, 144994359-144994360, 144994363-144994365, 144994378-144994423, 144994455-144994490, 144994509-144994536, 144994597-144994622, 144994747-144994749, 144994752-144994786, 144994835-144994845, 144994854-144994855, 144994883-144994884, 144994983-144994984, 144994994, 144995011, 144995066-144995070, 144995166-144995176, 144995257-144995261, 144995379, 144995458-144995568, 144995608-144995643, 144995673-144995698, 144995704-144995720, 144995742-144995747, 144995751-144995752, 144995763-144995791, 144995801-144995849, 144995862-144995863, 144995884, 144995887-144995892, 144995903-144995910, 144995920-144995954, 144996046-144996066, 144996164-144996203, 144996212-144996301, 144996310-144996343, 144996365-144996416, 144996427-144996462, 144996505-144996563, 144996672-144996678, 144996685-144996687, 144996690-144996692, 144996704-144996726, 144996736-144996743, 144996757-144996800, 144996877-144996926, 144996937-144997027, 144997060, 144997066-144997067, 144997079-144997153, 144997183-144997216, 144997242-144997291, 144997336, 144997355-144997387, 144997406, 144997409-144997459, 144997465, 144997478-144997485, 144997590-144997629, 144997638-144997715, 144997735-144997797, 144997818-144998079, 144998086-144998313, 144998326-144998359, 144998368-144998387, 144998395-144998404, 144998408-144998421, 144998439-144998476, 144998482-144998762, 144998783-144998817, 144998824-144998954, 144998961-144999536, 144999549-144999977, 144999989-145000052, 145000987, 145000996-145001000, 145001041-145001050, 145001145-145001184, 145001194-145001249, 145001420-145001434, 145001445-145001454, 145001462-145001465, 145001469-145001470, 145001473, 145001477-145001496, 145001587, 145001597-145001605, 145001618-145001654, 145001657-145001667, 145001672, 145001676-145001760, 145001789-145001795, 145001801-145001877, 145001883-145001891, 145001901-145001911, 145001922-145001934, 145002022-145002056, 145002065-145002071, 145002089-145002115, 145002119-145002142, 145003271-145003278, 145003289-145003341, 145003354-145003414, 145003439-145003449, 145003582-145003609, 145003630-145003682, 145003688-145003738, 145003814-145003882, 145003899, 145003917, 145003936-145003997, 145004104-145004186, 145004207-145004230, 145004315-145004466, 145004552-145004576, 145004604-145004641, 145004662-145004704, 145005702-145005827, 145006105-145006200, 145006298-145006395, 145006568-145006586, 145006600, 145006612-145006653, 145006660-145006697, 145006711-145006729, 145006803-145006827, 145006833-145006834, 145006837, 145006841, 145006846-145006880, 145006961-145007210, 145007225, 145007234-145007254, 145007257-145007279, 145007376-145007391, 145007415-145007426, 145007432, 145007435-145007443, 145007449-145007519, 145008166-145008213, 145008223-145008259, 145008486-145008529, 145008542-145008582, 145008588-145008613, 145008803-145008880, 145008888-145008898, 145008978-145009097, 145009181-145009202, 145009210-145009285, 145009366-145009474, 145010016-145010182, 145011147-145011180, 145011201-145011204, 145011211-145011213, 145011216, 145011223-145011234, 145011333-145011381, 145011400-145011410, 145012319-145012376, 145012384-145012408, 145024352-145024390, 145024422-145024441, 145024446, 145024458-145024496, 145024508-145024513, 145024528-145024581, 145024588-145024618, 145024643, 145024654, 145024661, 145024693, 145024700-145024813, 145024839, 145024850-145024854, 145024870
585GPT80.2890677397719710601491145729727, 145729746, 145729830-145729833, 145729838, 145729842, 145729848-145729849, 145730043, 145730194-145730207, 145730226-145730262, 145730381-145730404, 145730414-145730427, 145730430-145730434, 145730492-145730514, 145730629-145730854, 145731231-145731310, 145731378-145731514, 145731617-145731789, 145731884-145732039, 145732114-145732187, 145732215-145732226, 145732293-145732303, 145732321-145732383
586RECQL480.363110008271323103627145736814-145736938, 145737064-145737135, 145737157-145737172, 145737294-145737450, 145737527-145737560, 145737565-145737588, 145737596-145737639, 145737664-145737670, 145737696-145737707, 145737782-145737928, 145737938-145737944, 145738025-145738073, 145738081-145738085, 145738094-145738154, 145738230-145738337, 145738358-145738521, 145738601-145738614, 145738620-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739344, 145739357-145739395, 145739404-145739412, 145739416-145739433, 145739447-145739453, 145739456-145739484, 145739601-145739632, 145739659-145739695, 145739714-145739718, 145739722-145739727, 145739730, 145739740-145739746, 145739826-145739851, 145739858-145739859, 145739906-145739909, 145740322, 145740328-145740393, 145740456, 145740536, 145740549-145740553, 145740581-145740594, 145740611-145740614, 145740623-145740625, 145740737-145740738, 145740758-145740761, 145741176, 145741192, 145741259, 145741413-145741451, 145741520-145741533, 145741575, 145741624-145741645, 145741671, 145741700-145741754, 145741765, 145741789-145741818, 145741830, 145741844-145741849, 145741868-145741871, 145741881-145741902, 145741941-145741942, 145741971-145742005, 145742048-145742053, 145742113-145742119, 145742129-145742131, 145742135, 145742148, 145742435, 145742495-145742574, 145742798-145742869, 145742879, 145742889-145742892, 145742994-145743019, 145743085-145743168
587DOCK890.99460317460317346300396794-396803, 396867-396884, 396891, 399216, 399223, 399228-399230
588VLDLR90.98627002288333626222622195-2622196, 2622202-2622233, 2622262-2622263
589KCNV290.997557997558416382718368, 2718969-2718971
590GLIS390.99964196204798127934118208
591GLDC90.988899771465883430636645371-6645398, 6645439-6645440, 6645451-6645454
592B4GALT190.9816207184628222119733167122-33167143
593VCP90.999586947542341242135072350
594GRHPR90.989868287740631098737424853-37424861, 37426626
595AUH90.998039215686272102094123948-94123949
596ROR290.9802259887005656283294712174-94712194, 94712211-94712245
597PTCH190.9951657458563521434498270508-98270518, 98270624-98270633
598FOXE190.836007130124781841122100616262-100616263, 100616266-100616270, 100616279-100616281, 100616284, 100616287-100616294, 100616308-100616331, 100616620-100616644, 100616697-100616737, 100617021, 100617037-100617082, 100617093-100617120
599TGFBR190.98611111111111211512101867508, 101867534-101867553
600DFNB3190.98384728340675442724117266928-117266934, 117266995-117267031
601NR5A190.919191919191921121386127245169-127245178, 127262552, 127262767, 127262795, 127262820-127262822, 127265358-127265359, 127265365-127265393, 127265415-127265437, 127265458-127265499
602LMX1B90.99016979445934111119129376798, 129376801, 129376834, 129376849, 129376861-129376867
603ENG90.98533131006576291977130577969-130577971, 130578248-130578255, 130579476-130579480, 130588026, 130588084-130588086, 130616589-130616596, 130616606
604GLE190.9995231282784912097131296157
605DOLK90.97031539888683481617131709026-131709038, 131709122, 131709388-131709390, 131709517, 131709524-131709552, 131709570
606TOR1A90.992992992992997999132586345-132586351
607ASS190.99031476997579121239133333966-133333974, 133346229-133346231
608POMT190.97245179063361602178134394332-134394344, 134394824-134394836, 134397439-134397465, 134398381-134398387
609SETX90.9998755290017418034135171307
610TSC190.9988555078683843495135776988-135776991
611CEL90.751651254953765642271135937446-135937455, 135944135, 135944192-135944198, 135944521-135944527, 135946012-135946018, 135946464-135946472, 135946494-135946495, 135946506, 135946564-135947053, 135947085-135947114
612SURF190.88150609080842107903136221516-136221519, 136221563, 136221717-136221719, 136223124-136223175, 136223283-136223329
613ADAMTS1390.91409897292253684284136293754-136293759, 136293771-136293774, 136293792-136293891, 136295059-136295097, 136295108, 136295111, 136295140-136295171, 136297744, 136297756, 136297760-136297761, 136298526-136298531, 136298538, 136298544, 136298547, 136298602-136298617, 136301982, 136301995, 136302007-136302011, 136302049-136302067, 136305640-136305646, 136307588-136307592, 136307597, 136307643, 136307654-136307655, 136307786-136307787, 136308521-136308523, 136308531-136308534, 136308541-136308542, 136308629-136308635, 136310159-136310161, 136310874-136310875, 136315069-136315072, 136319695, 136320458-136320504, 136320638-136320644, 136320708-136320709, 136321192-136321198, 136321314-136321316, 136321768-136321776, 136323085-136323089, 136323092-136323094, 136323100, 136323103, 136324239
614DBH90.96655879180151621854136516768-136516791, 136516871-136516881, 136521757-136521763, 136522192-136522194, 136522240-136522248, 136522342-136522349
615SARDH90.959376133478421122757136535735-136535747, 136535752-136535774, 136535779-136535786, 136535833-136535853, 136536679, 136536682, 136536696, 136559457-136559463, 136559466-136559469, 136559473-136559479, 136570089-136570090, 136573541-136573550, 136577754-136577758, 136578224-136578225, 136584070-136584076
616COL5A190.879282218597066665517137534034-137534142, 137582758-137582794, 137582803-137582825, 137582877-137582925, 137591766-137591796, 137591828-137591862, 137591864-137591867, 137591870-137591875, 137591886-137591910, 137591939-137591964, 137591967-137591968, 137593017-137593040, 137593068-137593171, 137623451-137623455, 137642451, 137642663, 137642666, 137642673-137642674, 137642677-137642681, 137642701-137642727, 137644446-137644483, 137645705, 137645714-137645716, 137645721-137645723, 137646148, 137646151-137646172, 137648611-137648612, 137648617, 137648631, 137650102, 137650108, 137653771-137653789, 137655539-137655548, 137655577, 137676877, 137677843-137677844, 137677882-137677888, 137688244-137688245, 137690304-137690307, 137693843, 137698124-137698128, 137703379, 137704329-137704337, 137705830-137705832, 137705882, 137710502-137710509, 137710514
617LHX390.846153846153851861209139089236, 139089240, 139089273-139089277, 139089312, 139089316, 139090503-139090504, 139090550-139090571, 139090604, 139090617, 139090639, 139090769-139090771, 139090774-139090838, 139090873-139090905, 139094805, 139094815-139094847, 139094863-139094864, 139094873-139094885
618INPP5E90.542635658914738851935139324229-139324235, 139325502-139325504, 139326276, 139326284-139326320, 139326361-139326366, 139326376-139326387, 139326392-139326397, 139326427-139326437, 139326931-139326932, 139327012-139327038, 139327439, 139327443-139327452, 139327489-139327495, 139327505-139327527, 139327607-139327610, 139327677-139327680, 139327715-139327722, 139328489-139328504, 139328558-139328578, 139328581-139328586, 139329210-139329229, 139329241, 139329249, 139329266-139329275, 139329290-139329292, 139333060-139333080, 139333108-139333110, 139333136-139333207, 139333213-139333515, 139333526-139333555, 139333566, 139333599-139333652, 139333680-139333703, 139333709-139333788, 139333821-139333829, 139333831-139333871
619NOTCH190.3587636932707449177668139390523-139390546, 139390557-139390563, 139390570-139390579, 139390581-139390590, 139390632-139390674, 139390743-139390776, 139390783-139390850, 139390860-139390964, 139390997, 139391035-139391071, 139391101-139391103, 139391106-139391115, 139391148-139391152, 139391184-139391228, 139391242-139391270, 139391281-139391374, 139391380-139391382, 139391395-139391406, 139391409-139391488, 139391501-139391544, 139391549-139391564, 139391607-139391631, 139391660-139391709, 139391731-139391794, 139391801-139391824, 139391830-139391924, 139391938-139391940, 139391974-139392010, 139393360-139393368, 139393419-139393421, 139393425-139393428, 139393602-139393605, 139393704-139393710, 139395004-139395020, 139395045-139395079, 139395087-139395138, 139395144-139395175, 139395207-139395217, 139395241-139395273, 139396200-139396201, 139396204-139396209, 139396214, 139396217, 139396258-139396260, 139396264, 139396275, 139396295-139396314, 139396354-139396361, 139396364-139396365, 139396453-139396477, 139396508-139396525, 139396724-139396737, 139396772-139396779, 139396847-139396850, 139396887-139396940, 139397634-139397647, 139397734, 139397746, 139399125-139399134, 139399150-139399203, 139399228-139399255, 139399264-139399305, 139399328-139399331, 139399354-139399359, 139399383-139399406, 139399409-139399411, 139399456-139399465, 139399492-139399556, 139399762-139399764, 139399791-139399816, 139399830-139399900, 139399938-139399986, 139400007-139400079, 139400124-139400150, 139400159, 139400170-139400217, 139400219-139400220, 139400253-139400268, 139400281, 139400298-139400299, 139400303, 139400306-139400333, 139400979-139401023, 139401052-139401091, 139401168-139401215, 139401221, 139401278-139401302, 139401326, 139401329-139401370, 139401381-139401425, 139401757-139401778, 139401804-139401807, 139401834-139401889, 139402412-139402416, 139402479-139402498, 139402510-139402514, 139402538-139402547, 139402556-139402571, 139402575-139402576, 139402587, 139402705-139402730, 139402747-139402758, 139402787-139402803, 139402807-139402820, 139403322-139403335, 139403338-139403394, 139403398-139403399, 139403406-139403409, 139403417-139403443, 139403469-139403500, 139403515-139403516, 139404202-139404249, 139404349-139404375, 139405123-139405171, 139405198-139405200, 139405205-139405208, 139405252-139405257, 139405604-139405634, 139405656-139405659, 139405671-139405723, 139407473-139407552, 139407573-139407586, 139407844-139407846, 139407857-139407884, 139407902-139407905, 139407929-139407989, 139408962-139408989, 139409002-139409024, 139409040-139409154, 139409746-139409750, 139409761-139409813, 139409834-139409852, 139409935-139409946, 139409955-139409957, 139409981-139410006, 139410030-139410073, 139410082, 139410112-139410168, 139410448-139410494, 139410513-139410546, 139411724-139411837, 139412204-139412379, 139412589-139412701, 139412722-139412744, 139413043-139413049, 139413058-139413142, 139413159, 139413162, 139413165-139413167, 139413170-139413202, 139413214-139413276, 139413895-139413932, 139413934-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438479, 139438486-139438554, 139440178-139440238
620AGPAT290.64038231780167301837139568204-139568210, 139568220, 139568240-139568272, 139568304-139568308, 139568337-139568338, 139571459-139571481, 139571585, 139571887, 139571890, 139571896-139571897, 139571901-139571931, 139571985-139572008, 139581640-139581809
621SLC34A390.2155555555555614121800140126156, 140126159, 140126162-140126166, 140126184, 140126206-140126222, 140126587, 140127027-140127081, 140127115-140127155, 140127236-140127268, 140127305-140127364, 140127456-140127545, 140127661-140127698, 140127708, 140127715-140127740, 140127759-140127784, 140127801, 140127806-140127812, 140127825, 140127828-140127830, 140127839-140127843, 140127852-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129097, 140129106-140129110, 140129116-140129143, 140129150, 140129164-140129183, 140130408-140130413, 140130428-140130868
622EHMT190.79804978188357873897140513481-140513501, 140605444-140605482, 140611078-140611634, 140622950-140622967, 140708939, 140728804-140728821, 140728834-140728836, 140728872, 140728900-140728903, 140728917-140728964, 140729278-140729309, 140729361-140729405
623SHOXX0.55745164960182389879591633-591756, 591763-591770, 591775-591888, 591898-591909, 595353-595361, 595387-595396, 595405, 595411-595414, 595428, 595456-595561
624CSF2RAX0.5340996168582460813051401669-1401672, 1404673-1404721, 1404756-1404761, 1404774-1404777, 1404780-1404784, 1404787-1404798, 1407447-1407457, 1407734, 1407758-1407766, 1409254-1409256, 1409308-1409320, 1409354-1409357, 1409366-1409378, 1409382, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422838, 1422868, 1422872, 1422877-1422883, 1422887-1422908, 1424339-1424349, 1424418-1424420, 1428305, 1428317-1428318
625SMSX0.995458673932795110121958979-21958983
626ARXX0.9561870929544174168925031480-25031510, 25031542-25031550, 25031637-25031641, 25031644, 25031651-25031657, 25031663, 25031667-25031677, 25031682, 25031765-25031769, 25031777-25031779
627RPGRX0.81786643538595630345938144856, 38145276-38145872, 38145922-38145927, 38145995-38146009, 38146042-38146048, 38146495-38146498
628NYXX0.9481327800829975144641333083-41333086, 41333091-41333095, 41333234-41333243, 41333270-41333290, 41333296, 41333299-41333304, 41333310, 41333358-41333366, 41333474-41333475, 41333537-41333546, 41333963-41333968
629ARX0.9945711183496215276366765159-66765167, 66766357-66766362
630TAF1X0.9904963041182754568270586186-70586239
631SLC16A2X0.997828447339854184273641728-73641731
632XIAPX0.9939759036144691494123019607-123019615
633OCRLX0.9996304508499612706128674451
634GPC3X0.9942627653471101743133119384-133119386, 133119470-133119476
635ZIC3X0.9978632478632531404136648985-136648987
636SOX3X0.9545115585384611341139586148-139586151, 139586179-139586182, 139586479-139586512, 139586683-139586701
637FAM58AX0.9319727891156550735152864470-152864480, 152864483-152864521
638SLC6A8X0.874213836477992401908152954030-152954247, 152954270-152954291
639ABCD1X0.943252904378911272238152990737-152990756, 152990835-152990871, 152990949-152990963, 152991121, 152991126-152991131, 152991162-152991168, 152991297-152991301, 152991452-152991460, 152991592, 152991606-152991610, 153008516-153008522, 153008785-153008791, 153008981-153008987
640MECP2X0.97862391449566321497153363082-153363113
641OPN1LWX0.99086757990868101095153418465-153418471, 153424303-153424305
642OPN1MWX0.98356164383562181095153455583-153455593, 153458989, 153458995, 153459003, 153459007, 153461433-153461435
643OPN1MWX0.98721461187215141095153492701-153492711, 153498551-153498553
644FLNAX0.915156092648546747944153577343-153577345, 153577819-153577822, 153578077-153578080, 153578541-153578549, 153579286-153579293, 153580620-153580624, 153580947-153580951, 153581379-153581390, 153581397, 153581722-153581727, 153581778-153581781, 153581786, 153581792-153581794, 153581808, 153582382-153582387, 153583020-153583028, 153583205-153583216, 153583251, 153583402-153583404, 153585818-153585843, 153586577, 153586609-153586612, 153586908-153586913, 153587682-153587686, 153587763-153587766, 153587857, 153587954-153587959, 153588109-153588138, 153588165-153588189, 153588221-153588230, 153588264-153588266, 153588365-153588369, 153588414-153588419, 153588455-153588480, 153588533-153588537, 153588564-153588609, 153588639-153588644, 153588689-153588706, 153588799-153588805, 153588899-153588918, 153589819-153589822, 153590440-153590446, 153591044-153591051, 153591076-153591095, 153592454-153592461, 153592931-153592937, 153593195, 153593206-153593210, 153593612, 153593615-153593627, 153594541, 153595113-153595124, 153595765-153595769, 153595803, 153596016-153596033, 153596061-153596063, 153596105, 153596210-153596219, 153596251-153596254, 153596266-153596270, 153596280-153596291, 153599241-153599254, 153599270-153599301, 153599348, 153599406-153599453, 153599481, 153599484-153599508, 153599531-153599566, 153599572-153599579, 153599583-153599585, 153599588-153599590
645EMDX0.85490196078431111765153607897-153607921, 153608086-153608090, 153608143-153608154, 153609130-153609153, 153609281-153609297, 153609462-153609473, 153609504-153609519
646TAZX0.9442332065906244789153640181-153640187, 153640236-153640243, 153640289, 153640423-153640442, 153640511-153640518
647GDI1X0.9947916666666771344153665610-153665616
648G6PDX0.995726495726571638153775036-153775042
649IKBKGX0.9945355191256881464153792573-153792580
650IKBKGX0.983640081799598489153868347-153868354
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5WNT10A-F228Ihet unknown0.019Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
2C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
2PCSK9-A53Vhet unknown0.096Unknown
not reviewed
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
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
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-LAL12Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RET-G691Shomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
2RET-R982Chet unknown0.016Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.885 (probably damaging), Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
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-A206Vhomozygous0.213Unknown
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
2ERCC6-Q1413Rhomozygous0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
2ERCC6-R1213Ghomozygous0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
2ERCC6-M1097Vhomozygous0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5BLMH-I443Vhomozygous0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5HNMT-T105Ihet unknown0.077Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.821 (possibly damaging)
1.125FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1.125FUT2-RQ161HYhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.125FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
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
1ALX4-P102Shomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DSP-I305Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.912 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DSP-Y1512Chet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-A541Thet unknown0.028Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EFHC1-R159Whomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027052-Q90*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1APOE-R176Chet unknown0.068Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1ERCC2-K751Qhomozygous0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DPYD-S534Nhet unknown0.016Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WFS1-R456Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
1WFS1-R653Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-V17Mhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-D25Ghet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-KF76RLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A222Thet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
1CASR-R990Ghet unknown0.064Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
1CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CDH23-R1434Qhomozygous0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CDH23-V1617Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-D2222Ghet unknown0.045Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-N817Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-C441Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AK311524-W181Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1POLG-Q1236Hhet unknown0.058Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HLA-L-H17Rhomozygous0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-I30Vhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-R38ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-L-A142Vhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-W144*homozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1HLA-L-C172Yhomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SHROOM2-G1285Vhomozygous0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
1SHROOM2-L1607Fhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ABO-V276Mhomozygous0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABO-F215Ihomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABO-W180*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TTF1-G360Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
1TTF1-V303Ahet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TTF1-A290Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MERTK-R20ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RPGR-V1144Ihomozygous0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPC3-V429Mhomozygous0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1USP9Y-E65DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1HRNR-Y2746Hhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF81-N157Shomozygous0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PGAM4-R86Hhomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALG2-V367Ahet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG2-S11Phet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT9-G126GSGGGFGGGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ADRB2-G16Rhomozygous0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADRA2B-G211Ahomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.75AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.75FLG-R3738Hhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.75FLG-R3530Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.75FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.75FLG-Y3105Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.75FLG-D2936Ghet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-G2545Rhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.75FLG-H2507Qhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.75FLG-E2398Qhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.75FLG-S2366Thet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.75FLG-VG2225AVhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-L2224Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-H2209Rhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-Y2194Hhomozygous0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-K2192Qhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-Y2119Hhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-A2108Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-A1805Vhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-R1684Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-S1482Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-R1376Ghet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-A1167Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-E755Khet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLG-G444Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.75FLG-E327Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75FUT6-R303Ghet unknown0.074Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.725 (possibly damaging)
0.75FUT6-P124Shet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.614 (possibly damaging)
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75DYX1C1-E417*het unknown0.201Unknown
pathogenic
Low clinical importance,
uncertain
One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.
0.5DSG2-E713Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5TTR-G26Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCEB3B-P598Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5TCEB3B-G505Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5TCEB3B-A446Thet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5TCEB3B-A403Shomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCEB3B-C254Fhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCEB3B-R179Phomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUDT13-R243Chet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCC2-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
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC23IP-A241Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SEC23IP-K644Ehet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF532-E761Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAHCC1-L1475Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BAHCC1-H1930Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BAHCC1-L1938Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOH-S107Nhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE27-V82Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE27-G138Vhomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MRPL23-R11Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MRPL23-G32Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK160367-G206Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5IL12RB1-G378Rhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ST6GAL2-G154Rhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.358 (possibly damaging)
0.5ST6GAL2-Y29Fhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5RGPD4-Q1169Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OR13A1-Y269Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATP6V1B1-E161Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CEBPZ-V102Ihomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEBPZ-P15Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5QPCT-R54Whet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5QPCT-H360Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FSHR-S680Nhomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NPHP1-P39Thet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.052 (benign), 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
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TTN-E32484Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R30789Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D17426Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R8194Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R6301Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R3598Khet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R3367Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S2831Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-M2610Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R1572Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.731Unknown
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
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
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-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC74B-P201Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-V219Ihet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DL492456-R148Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-W104*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SULT6B1-R143Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-K50Ehet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-V37Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SULT6B1-A23Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTC27-R165Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TTC27-Y476Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BCKDHA-P39Hhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF230-H53Yhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5PEX10-T274Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.221 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OIT3-C105Fhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FXYD3-G97Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WDR62-L850Shet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-M1134Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhet unknown0.749Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RYR1-E3689Delhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5QPCTL-T364Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLB1-V212Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.951 (probably damaging)
0.5PLB1-N812Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLB1-H879Dhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLB1-A1318Vhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF587-E189Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ZNF772-W41*het unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSD17B14-R130Whet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNNT1-E12Ghet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIFM2-G2Vhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ULK2-V370Mhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK2-P242Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-T25Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5WNK1-T665Ihet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COX8C-P38Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-V971Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5MLH3-M809Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NIN-S1837Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NIN-G1320Ehet unknown0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NIN-Q1125Phet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghet unknown0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D5547Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-I6547Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5SPTB-H1374Rhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPTB-S439Nhomozygous0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYLS1-C31Rhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.5ATP10A-R1298Shomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP10A-W1172Chet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5ATP10A-E834Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-P604Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-F1463Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5ZC3H12C-D157Nhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDAN1-A148Vhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview
0.5CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TJP1-D1347Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
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
0.5BAHD1-E26Ghet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5BAHD1-Q298Khet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5NDUFAF1-E176Khet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5VWF-F2561Yhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-D1472Hhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5SDSL-L229Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GYS2-D669Nhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VEZT-V496Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.25 (possibly damaging)
0.5VEZT-G762Dhet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5MLL2-T1246Mhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL2A1-G1405Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5ITGA7-R279Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-R282Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MPHOSPH8-D460Yhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACSM4-Q357*het unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SLC7A7-A91Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.039 (benign), Testable gene in GeneTests with associated GeneReview
0.5GMPR2-G242Dhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R521Hhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRK1-K38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5GRK1-KL40NRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC10A2-S171Ahomozygous0.891Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC10A2-N27Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SACS-A694Thet unknown0.025Unknown
not reviewed
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
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPT1A-A275Thet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-R510Chet unknown0.041Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5RAI1-V815Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SSFA2-P836Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging)
0.5NLE1-L295Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5NLE1-R169Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR179-K1150Ehet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR179-R884Whet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TNFRSF13B-P251Lhomozygous0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUP88-D581Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ZDHHC13-K99Rhomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZDHHC13-R461Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ACADVL-G43Dhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPTY2D1-R447Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5KRT13-T298Ahet unknown0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-A146Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT14-A94Thomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PNPO-R116Qhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5GNGT2-Q17Rhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF2B-A112Vhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF2B-P417Shet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF2B-R437Ghet unknown0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF2B-G468Ehet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5EPN3-R170Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5EPN3-P544Thet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX746787-R62*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ADM-S50Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-R95Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging)
0.5CCR10-R326Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5BRCA1-S1634Ghomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhomozygous0.295Unknown
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-M1008Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPATCH8-D1236Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GPATCH8-C1161Whet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PLEKHA7-T236Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPT1-G80Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5MS4A5-G51Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MYH11-T1918Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH11-V1296Ahet unknown0.046Unknown
not reviewed
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)
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5OR2C1-G16Shet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-R229Hhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNASE1-Y117Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5DNASE1-R244Qhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.145 (benign)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RBL2-Y210Chet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5RBL2-R829Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5ZNF19-R224Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF19-Q218Hhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLCG2-R268Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5ACCSL-R50Ghet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ACCSL-C529Rhomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FAM92B-D55Nhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB1-A961Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CES1-S12Ahet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CES1-F6Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-R4Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.24 (possibly damaging)
0.5SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R913Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DGKZ-Q21Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DGKZ-G69Chet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ECHDC3-A69Thomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-A151Thomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-D162Nhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPS8L3-M35Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHIA-N45Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-D47Nhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CHIA-R61Mhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-I339Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-F354Shomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CHIA-F377Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CHIA-V432Ghomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NFKBIE-H95Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIM1-A371Vhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIM1-P352Thet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWDE-F1485Chomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K964Nhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G340Dhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MACC1-R804Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5MACC1-P50Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.566 (possibly damaging)
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S3765Phet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RSPH3-G518Dhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RSPH3-E484Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.563 (possibly damaging)
0.5RSPH3-R398Qhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5RSPH3-R213Qhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SEC63-T676Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests
0.5SEC63-V556Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.5MICAL1-R807Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.973 (probably damaging)
0.5MICAL1-A758Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICAL1-A758Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICAL1-A12Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKD1-V1555Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKD1-R1299Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKD1-P815Shet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKD1-E703Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKD1-S504Fhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5AKD1-S493Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5SYNE1-R8735Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A8168Shet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q256Rhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q253Hhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D167Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V3186Ihet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-K3015Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A665Phet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-V887Ahet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SOX30-Q429Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
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
0.5SLC25A2-Y44Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhomozygous0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB10-T213Rhomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.885 (probably damaging)
0.5PCDHB10-A467Ghet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.035 (benign)
0.5PCDHB10-R543Shomozygous0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-V614Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CCHCR1-S865Chet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-G664Chet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-R506Qhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCHCR1-R506Whet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-S253Rhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-W78*homozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MICA-W37Ghomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-Y59Chomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V152Mhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-M174Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-E196Khomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233Whomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhomozygous0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-P294Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5MICA-C329Rhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-P330Lhomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SKIV2L-M214Lhomozygous0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIV2L-R324Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-M712Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5F13A1-E652Qhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAI1-A8Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5HSD17B3-G289Shet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-I883Mhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V825Ihet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK094577-C82Shifthet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TG-P118Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-S2132Lhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5LRRCC1-H69Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRCC1-T210Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-R346Khomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NCRNA00255-R42Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NCRNA00255-Q84Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-P511Shet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.94 (probably damaging)
0.5CROCC-MER1092VEQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-R1097Phet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CROCC-V1110Mhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.5CROCC-G1471Rhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-S1744Ghet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-T481Shet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTR2C-C23Shomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH1-R1279Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-N796Khet unknown0.181Unknown
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-A440Thet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTGS1-W8Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGS1-P17Lhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGS1-V481Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-F1152Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1077Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-A660Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LY96-R56Ghomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY96-P157Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging)
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGF-E304Khet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-I261Vhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5TNS3-I1132Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UPP1-T228Mhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RSPO1-K162Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NKX3-1-R52Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.788 (possibly damaging)
0.5SEPN1-T103Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUSC3-I65Vhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMB4-R117Thet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLL3-N942Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MLL3-I707Thet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLL3-M689Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLL3-L687Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5MLL3-R679Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.5NGF-A35Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.5CXCR1-R335Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CXCR1-M31Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RNF123-R387Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5RNF123-R937Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRG4-R180Whomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRG4-T604Ahomozygous0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMXL1-M1589Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5SLC22A14-L238Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC22A14-V284Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-S292Ghomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-P560Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TGM4-Y244Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5TGM4-E313Khomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5TGM4-R372Chomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.419 (possibly damaging)
0.5TGM4-V409Ihet unknown0.472Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
0.5TGM4-E437Qhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5EXOSC7-R169Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EXOSC7-V274Lhomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARL13B-T348Shet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HTR3E-K168Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-Q202Rhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IER5-P285Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH15-T1125Ahomozygous0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-R408Hhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-H451Rhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATR-V959Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATR-V316Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging)
0.5ATR-M211Thet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PER2-V903Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
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
0.5SDCBP2-R223Chet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5SDCBP2-R191Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5SDCBP2-V182Mhomozygous0.463Unknown
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
0.5SPATA17-M165Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.853 (probably damaging)
0.5NVL-V404Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC2A10-T518Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC2A10-I537Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GTPBP5-H93Rhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.906 (probably damaging)
0.5AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MTR-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGT1-G21Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GGT1-T117Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GCAT-R39Chet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.989 (probably damaging)
0.5GCAT-R387Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRELP-N348Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ASPM-Q2620Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIOBP-G131Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-G212Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-A660Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-T817Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.5TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5APOL6-N173Khet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OR2L3-I39Thet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5OR2L3-P78Lhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.5OR2L3-S82Phet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.284 (possibly damaging)
0.5OR2L3-S104Lhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2L3-M139Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2L3-Q169Rhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2L3-F199Lhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OR2L3-T202Ahet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.035 (benign)
0.5KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5KIAA1671-P818Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ISX-S28Ghet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-R83Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ISX-T182Mhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5STK36-K295Rhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5STK36-N297Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5STK36-R477Whet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5STK36-R583Qhet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.892 (probably damaging)
0.5STK36-R1112Qhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.124 (benign)
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-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGSF9-P1117Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5IGSF9-G34Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
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-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-P389Thet unknown0.588Unknown
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
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-E98Dhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5MTTP-I128Thet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-N166Shet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.153 (benign), Testable gene in GeneTests
0.5MTTP-H297Qhomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-G661Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-V828Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests
0.5MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-V253Ihomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO2-D36Ghet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-S195Lhomozygous0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-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
0.5ANXA10-R47Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5S100A7A-R23Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5ETV3L-M318Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.761 (possibly damaging)
0.5ETV3L-G263Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.759 (possibly damaging)
0.5ETV3L-T190Ahet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NEBL-K60Nhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5BDP1-D38Ehomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-R757Chet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V778Mhet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5BDP1-G1180Shet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-F1244Ihet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-I1264Mhomozygous0.775Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V1347Mhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-K1469Ehet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5BDP1-Q1676Ehet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5BDP1-I2013Lhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-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
0.5EVC-E457Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-D344Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OTOP1-S556Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OTOP1-I555Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OTOP1-A386Phet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.841 (possibly damaging)
0.5OTOP1-G153Rhet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5OTOP1-V145Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OTOP1-K56Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5OTOP1-S10Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNS1-V1604Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-W1197Rhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-R1004Whet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-T528Ihet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-V25Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CPN2-Q509Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM44-R255Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TMEM44-Q237Rhomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM44-P147Lhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR1-S602Ihomozygous0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR1-N248Shomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NAAA-F334Lhomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAAA-R153Hhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5NAAA-V151Ihet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5BMP3-Y67Nhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5BMP3-L205Fhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.17 (benign)
0.5UNC5C-A841Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UNC5C-M721Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPAG17-P1348Lhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SPAG17-R143Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5GPR98-S199Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.732Unknown
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-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), 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-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L6249Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SGSH-G345Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-YEE254IEMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-G2018Rhet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLD1-I668Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375GLI3-I808Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATP6V0A4-L345Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCNN1A-P728Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25SCNN1A-T722Ahet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRB1-S143Ahet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRB1-P52Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-P683Lhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging), Testable gene in GeneTests
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25AKR7L-F321Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AKR7L-A254Thet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AKR7L-C185Yhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AKR7L-A118Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AKR7L-M65Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AKR7L-M23Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IRAK4-A428Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GPR153-R270Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR153-R209Hhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A120Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HEATR1-E2017Ghet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.25HEATR1-N1967Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.25HEATR1-V1854Ahet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-N1694Shomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-D1570Ehet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.25HEATR1-S1559Nhet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-I1102Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEATR1-M607Vhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.25HEATR1-A580Thet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEATR1-H348Rhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
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
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25ACADSB-I316Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZDHHC5-D534Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZDHHC5-R547*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-D46Ehet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-G385Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25EDARADD-M9Ihet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L16Shet unknown0.470Unknown
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
0.25ABCA4-S2255Ihet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25ZNF224-M118Vhet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhet unknown0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPO-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
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NIPBL-N674Shet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.25GTF2H2-I151Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTF2H2-R45Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25ADH1B-H48Rhet unknown0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25ETFDH-T31Ihomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ETFDH-G191Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TRIB3-Q84Rhet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PANK2-G126Ahet unknown0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AGXT-I340Mhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ASXL1-G645Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ASXL1-L814Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL9A3-A435Ehet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-G115Chet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELSR1-H1888Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CELSR1-N1884Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELSR1-C1126Rhomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELSR1-S664Whomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.673 (possibly damaging)
0.25TCF20-S722Ghet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCF20-M405Vhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.25TCF20-S16Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25PRODH-A367Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T22Ihet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C8orf49-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
0.25ASAH1-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
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.25SOHLH1-P269Shet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25SOHLH1-A267Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CACNA1B-N167Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.25CACNA1B-A862Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CACNA1B-T996Ahet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CIZ1-V638Mhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CIZ1-Q62Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CER1-V179Ihet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.25CER1-A65Ghet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CER1-R19Whet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.722 (possibly damaging)
0.25CER1-Q7*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF462-Q1103Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF462-N1828Shet unknown0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF32-E289Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RNF32-R307Chet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.512 (possibly damaging)
0.25C7orf29-E202Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C7orf29-W223Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYS-R2326Qhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25FGFR4-P136Lhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
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
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C7orf71-G40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C7orf71-G40Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-T2634Ahet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-N627Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25AIM1-E1196Ahet unknown0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MESP1-C228Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MESP1-RPGTL57PPGTRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25KIFC3-E229Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KIFC3-E225Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IRX5-P255Thet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25IRX5-R269Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CCDC135-C186Shet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC135-P433Lhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC135-I439Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DUOX2-P303Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGCG-R116Hhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25SGCG-N287Shet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25HTR2A-T25Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-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
0.25CAPN3-A236Thet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25C14orf102-N1118Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf102-EED563LEGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf102-Q475*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TGFB1-P10Lhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD3EAP-E319Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ZNF28-M471Thomozygous0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF28-K412Qhomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.4 (possibly damaging)
0.25ZNF28-K265Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25SULT1C4-D5Ehet unknown0.429Unknown
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
0.25OTOF-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
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25GRP-R4Shomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GRP-R141Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-Q230Rhet unknown0.042Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.895 (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
0.25LRRC48-D439Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRRC48-RA441GGRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALOX15B-R417Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ALOX15B-Q656Rhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C17orf57-V312Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-Y546*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MRC2-Q152*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MRC2-R1156Hhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C17orf55-V50Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf55-A49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0INPP5E-Q524Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0CPN1-G178Dhet unknown0.036Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.982 (probably damaging), Testable gene in GeneTests

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,757,636,620 bases (96.5% of callable positions, 89.5% of total positions)

Coding region coverage: 31,678,601 bases (95.2% of all genes, 96.1% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in