huF160AA - GET-Evidence variant report

Variant report for huF160AA

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1F11-E135XModerateLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.000557724Causes factor XI deficiency in a recessive manner, with symptoms of increased susceptibility to bruising, bleeding, and nosebleeds. This variant appears to be a well-established cause of the disease and is common in patients with Ashkenazi Jewish ancestry. Asakai et al 1991 (PMID: 2052060) reports that about half of pathogenic variants found in patients with Ashkenazi Jewish ancestry are this variant, and the frequency of the variant is high in this ancestry (1 in 8 to 1 in 10 believed to be a carrier of this or another pathogenic variant).1
2MYO1A-G662EModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.0257483Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss.1
3MATN3-T303MModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0106698An Iceland study implicated this in causing increased osteoarthritis -- in particular, hand osteoarthritis. Because the variant is rare, the statistical significance of observations is weak. The authors estimate that individuals heterozygous for this variant have a 2.1-fold risk for hand osteoarthritis.1
4NPC2-V30MModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
Reported to cause seizures and epilepsy in a recessive manner, as recorded in ClinVar by the Developmental Genetics Unit; King Faisal Specialist Hospital and Research Center. This assertion cites a supporting publication, Alazami et al 2015 (PMID: 25558065), which cite this as a mutation discovered through whole exome sequencing in a study of 143 consanguineous families with neurogenetic diagnoses. Other mutations in this gene are known to cause Neiman-Pick syndrome type C2 (a very rare variant), but neither of the affected siblings in the affected family had typical Neiman-Pick symptoms (progressive neurodegeneration or hepatosplenomegaly).1
5MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
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
6rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
7TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
8RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
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
10TGFB1-R25PLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0488858This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension.1
11ELAC2-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
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
13MEFV-R408QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00501952This variant is associated with Familial Mediterranean Fever, it has generally been reported in cis with other variants. Sugiura et al. conclude that this variant may be weakly involved with the disease.1
14SP110-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
15MEFV-P369SLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00511247Weak evidence associating this with familial mediterranean fever, but there is a fairly high frequency of this allele. This variant might cause increased susceptibility to the disease but there is not enough evidence to be significant.1
16CCR5-S185ShiftLowWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.047619Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.1
17NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
18KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
19SLC45A2-E272KLowLikelyLikely benign

Unknown, Heterozygous
0.0290946Pigmentation allele for black hair in Caucasian population.1
20ERCC2-L461VLowLikelyLikely benign

Unknown, Heterozygous
0.000278862Reported to cause Xeroderma Pigmentosum (XP) and Photosensitive Trichothiodystrophy (TTD) in a recessive manner. These effects are recorded in ClinVar by OMIM and come, respectively, from Frederick et al 1994 (PMID: 7849702), and Takayama et al 1996 & Takayama et al 1997 (PMID: 8571952 & PMID: 9195225). Notably, the latter papers implicated this variant only in combination with a 15 amino acid deletion on the same chromosome (expected to have a more severe effect – so this variant may have been coincidental and not causal). In ExAC data this variant has an allele frequency of 0.7% in South Asian ancestry, which means at least 1 in 20,000 with South Asian ancestry are expected to be homozygous. In contrast, XP and TTD are both much rarer, with incidences of 1 inn 250,000 to 1,000,000. This information, combined with a lack of more recent confirming literature, indicates the reported effects should probably be considered disproven.1
21CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
22NEFL-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
23COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
24KEL-T193MLowUncertainUncertain benign

Dominant, Heterozygous
0.0320692This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.1
25MLH1-I219VLowUncertainUncertain benign

Dominant, Homozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
26RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
27GALT-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
28RXFP2-T222PLowUncertainUncertain benign

Unknown, Heterozygous
Reported to cause cryptorchidism, as recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004376/). This assertion comes from Gorlov et al 2002 (PMID: 12217959) and Ferlin et al 2003 (PMID: 12970298). Gorlov et al found this variant in 1 of 61 patients and, according to OMIM, Ferlin et al found the variant in 4 of 87 patients. ExAC data reports this variant has an allele frequency of 0.7% in Europeans, and Ferlin et al's finding has weak significance for enrichment relative to this allele frequency (p = 0.037). Although cryptorchidism is common, so is this variant – 1 in 70 Europeans are carriers: if it had this effect with high penetrance we would see highly significant enrichment in patients. Although the variant could potentially be a risk factor there is no strong evidence for making this assertion, and the hypothesized effect recorded in ClinVar (i.e. high penetrance) should be considered disproven.1
29SDHD-H50RLowUncertainUncertain benign

Unknown, Heterozygous
0.00659974Probably benign. Other mutations in this gene are implicated in causing hereditary paraganglioma or pheochromocytoma syndromes, but this variant is also found in unaffected controls and is considered a nonpathogenic polymorphism by most authors that have reported it.1
30SLC45A2-L374FLowUncertainUncertain benign

Unknown, Heterozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
31PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
32PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
33MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
34ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
35BRCA1-Q356RLowUncertainUncertain benign

Unknown, Heterozygous
0.0462911One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.1
36RAPSN-R58CLowUncertainUncertain benign

Unknown, Heterozygous
0.0778026Reported as non-pathogenic polymorphism. 1
37RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
38TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
39TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
40TAS2R38-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
41APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
42TYR-S192YLowUncertainUncertain benign

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

Exome coverage: 31462986 / 33282720 = 94.53%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.3497882046269139916138955553-955753, 957582-957643, 957654, 957667-957842, 970657-970704, 976045-976055, 976064-976146, 976168-976182, 976200-976260, 976553-976777, 976864-976974, 977036-977081, 977336-977364, 977395-977449, 977462-977500, 977511-977515, 978636-978667, 978694-978727, 978740-978831, 978918, 978925-978956, 978979-979015, 979025-979099, 979106-979112, 979203-979268, 979311-979313, 979327-979331, 979344-979348, 979359-979403, 979502-979540, 979552-979619, 979736-979742, 979772-979793, 980580, 980597-980627, 980638-980657, 980739-980761, 980767-980774, 980781-980784, 980841-980862, 980875-980883, 980893-980903, 981133, 981151-981156, 981203, 981236-981256, 981344, 981384, 981392, 981412-981415, 981452, 981463-981468, 981619-981645, 981777-981947, 981956-982083, 982090-982115, 982200-982229, 982249-982337, 982707-982712, 982722-982747, 982760, 982764-982766, 982774-982803, 982827-982834, 982955, 983015, 983030-983036, 983164-983235, 983250-983266, 983400-983416, 983424-983452, 983490-983527, 983534-983577, 983586-983745, 984247-984408, 984416-984421, 984426-984439, 984616-984618, 984633-984783, 984813-984829, 984946-984965, 984977-984978, 985024-985086, 985102-985132, 985154-985175, 985283-985296, 985327-985387, 985398-985400, 985620-985670, 985678-985696, 985812, 985837-985878, 985910-985939, 986107-986115, 986135-986175, 986200-986203, 986212, 986641-986694, 986705-986749, 986833-986920, 986996, 987010, 987108-987114, 987126-987128, 987170-987195, 989133-989162, 989180, 989185, 989190, 989211-989223, 989237, 989243-989245, 989290-989306, 989351-989357, 989873, 989896-989900, 989927-989931, 990204-990232, 990249-990250, 990260-990265, 990276-990286, 990310-990334
2GABRD10.22958057395143104713591950863-1950930, 1956381-1956396, 1956422-1956424, 1956427-1956429, 1956441-1956485, 1956773-1956835, 1956957-1957089, 1957106-1957121, 1957142-1957177, 1959016-1959019, 1959023-1959032, 1959037-1959040, 1959058, 1959083-1959098, 1959594-1959637, 1959677-1959715, 1960550-1960640, 1960647-1960691, 1960703-1960705, 1960990-1961030, 1961042-1961097, 1961105-1961154, 1961165-1961167, 1961187-1961189, 1961194-1961197, 1961422-1961609, 1961632, 1961637-1961644, 1961663-1961678, 1961682-1961717, 1961721
3PEX1010.730886850152912649812337923-2337960, 2337991-2337993, 2338047, 2338177-2338188, 2338258-2338261, 2338266-2338275, 2338316, 2339997-2340046, 2340144-2340149, 2340154, 2340179-2340211, 2343830-2343912, 2343920-2343941
4NPHP410.9497780892314921542815924444-5924455, 5925319-5925327, 5925331, 5934555-5934564, 5935104, 5935109, 5935117-5935119, 5935148, 5935154-5935160, 5947378, 5947466-5947469, 5947510, 5950937-5950960, 5950980, 5951062, 6007197-6007198, 6008230, 6012865-6012867, 6029186, 6029279-6029285, 6038330-6038369, 6038386-6038391, 6038401-6038473, 6046235-6046239
5ESPN10.741130604288566425656485016-6485191, 6485203-6485308, 6488287, 6488300-6488304, 6488338-6488339, 6488368-6488405, 6488419, 6488466-6488467, 6500360-6500363, 6500381-6500437, 6500461, 6500464-6500486, 6500686-6500692, 6500705-6500712, 6500737-6500795, 6500821, 6500864-6500868, 6500996, 6501044, 6505816-6505868, 6505897-6505946, 6508831, 6508869-6508888, 6508925, 6509057, 6509060-6509061, 6509103, 6509139-6509145, 6511953-6511959, 6512127-6512148, 6517289
6PLEKHG510.982439636249615631896528171, 6528252-6528258, 6529701, 6530352-6530354, 6530836, 6530844, 6530847, 6530851-6530855, 6530910, 6533405-6533411, 6533416, 6534184, 6534531, 6534534-6534544, 6534641, 6534646-6534647, 6535536, 6535551, 6536034, 6556572, 6556593-6556595, 6557380-6557383
7PEX1410.9611992945326344113410659331, 10659342, 10684435-10684448, 10689695-10689700, 10689838-10689844, 10689894, 10690002-10690004, 10690007-10690017
8TARDBP10.9534136546184758124511082243-11082249, 11082336-11082362, 11082582-11082605
9MASP210.6098981077147804206111097757-11097868, 11102932-11103021, 11103030-11103036, 11103042-11103079, 11103396-11103416, 11103423-11103511, 11103537-11103592, 11105465-11105596, 11106613-11106653, 11106662-11106672, 11106682-11106683, 11106694-11106709, 11106732, 11106748-11106768, 11106781-11106790, 11106948-11106954, 11106977-11106981, 11106990-11107012, 11107023, 11107046-11107078, 11107094-11107176, 11107260-11107264
10MTHFR10.9918822932521616197111853986, 11853989-11854000, 11861439-11861441
11PLOD110.9633699633699680218411994837-11994869, 12023640-12023641, 12024835-12024842, 12026318-12026335, 12030749, 12030753-12030770
12MFN210.996042216358849227412049248-12049256
13CLCNKA10.83817829457364334206416351272-16351279, 16354391-16354397, 16355262-16355264, 16355269, 16355742, 16356236, 16356245, 16356259, 16356466-16356491, 16356501, 16356557-16356570, 16356956-16356980, 16356991-16357016, 16357035-16357080, 16357102-16357119, 16357163, 16358227-16358274, 16358325-16358338, 16358698-16358741, 16358771, 16358774-16358785, 16358938-16358958, 16359000, 16360141-16360153
14CLCNKB10.9156976744186174206416373044-16373052, 16373124, 16377431-16377434, 16377487-16377493, 16378026-16378027, 16378254, 16378304, 16378309-16378312, 16378693-16378707, 16378717, 16378728-16378732, 16378742, 16378749, 16378769-16378814, 16378843, 16380196, 16380231-16380232, 16382007-16382013, 16382170-16382190, 16382205-16382207, 16382944-16382971, 16383399-16383411
15ATP13A210.9884278859723441354317313000-17313002, 17313588-17313616, 17314700, 17323565, 17338227-17338233
16ALDH4A110.994680851063839169219208332-19208339, 19209666
17PINK110.9833906071019529174620960147-20960150, 20960203-20960207, 20960230, 20960246-20960253, 20960269, 20960279-20960282, 20960379-20960384
18ALPL10.997460317460324157521900158-21900161
19HSPG210.9236490588949610061317622149859-22149864, 22149923-22149964, 22149975-22149981, 22150154, 22150160-22150161, 22150165-22150170, 22150181-22150212, 22150614-22150635, 22150819-22150833, 22151047-22151049, 22151076-22151108, 22151197, 22151212, 22151257-22151272, 22154385-22154392, 22154531-22154585, 22154624-22154643, 22154792-22154806, 22154866, 22154898, 22155350, 22155366, 22155476-22155492, 22155505, 22155511-22155516, 22155518-22155535, 22155541, 22155543, 22155971-22155982, 22156015-22156018, 22156524-22156543, 22156561-22156562, 22156573-22156579, 22157488-22157492, 22157548-22157550, 22157808-22157814, 22165430-22165433, 22168056-22168079, 22168140, 22168148-22168154, 22168597, 22169917-22169929, 22170663-22170668, 22170675, 22170697, 22170745-22170755, 22173867-22173868, 22174528-22174533, 22174551-22174564, 22175273-22175280, 22175409, 22176886, 22176889-22176890, 22176941-22176980, 22178144-22178162, 22178312-22178318, 22178581-22178595, 22178630-22178678, 22181134-22181136, 22181204-22181206, 22181210-22181211, 22181417-22181427, 22183827, 22186137-22186169, 22186382-22186392, 22186398, 22186404, 22186414, 22186447-22186448, 22186475-22186495, 22186688-22186718, 22188269-22188272, 22188598, 22188601, 22190612, 22190621-22190623, 22190696-22190706, 22191417-22191419, 22191429, 22191443-22191454, 22191457, 22191545-22191566, 22191788-22191802, 22191810, 22191839-22191842, 22191846, 22192214-22192220, 22199134-22199167, 22199503-22199543, 22202153, 22206649, 22206999-22207012, 22211090-22211104, 22211108, 22216924, 22263648-22263710
20WNT410.9204545454545584105622456180-22456186, 22469339-22469415
21RPL1110.99441340782123353724019171, 24019224-24019225
22HMGCL10.99079754601227997824134716-24134724
23FUCA110.9735902926481137140124194388-24194389, 24194392, 24194424, 24194439-24194460, 24194471-24194473, 24194641-24194643, 24194654-24194656, 24194709, 24194776
24LDLRAP110.980582524271841892725870247-25870264
25SEPN110.89028776978417183166826126722-26126904
26ZMPSTE2410.997198879551824142840756552, 40756555-40756557
27COL9A210.998067632850244207040769510-40769511, 40769621-40769622
28KCNQ410.91954022988506168208841249766-41249792, 41249808-41249812, 41249856-41249895, 41249901-41249947, 41249955-41249971, 41250004-41250006, 41250071-41250075, 41284280-41284303
29POMGNT110.9611699445284977198346660570-46660571, 46661493-46661504, 46661550-46661551, 46661566-46661573, 46661749, 46662403-46662416, 46662428-46662448, 46663449-46663465
30DHCR2410.9877498388136719155155352774-55352792
31PCSK910.9889369889369923207955505553-55505555, 55521703-55521705, 55524261-55524277
32AGL10.999782561426414599100357254
33COL11A110.9956019791094245457103364232-103364244, 103364281-103364284, 103364296-103364302
34GSTM110.5662100456621285657110230496-110230531, 110230792-110230801, 110230810, 110230839-110230841, 110230854-110230858, 110230867, 110231295-110231326, 110231687-110231692, 110231696-110231714, 110231721, 110231724-110231726, 110231730, 110231880-110231947, 110232908-110232910, 110232925, 110232929-110232946, 110232974-110232988, 110233076-110233131, 110233138, 110233151, 110233155, 110235888, 110235899, 110235917
35VANGL110.97714285714286361575116227959, 116227967, 116227971, 116227978-116227986, 116228076-116228095, 116228128-116228131
36HMGCS210.9993451211525911527120306871
37NOTCH210.985302049622441097416120539665-120539714, 120539778-120539784, 120539916, 120539936, 120548025, 120548051, 120548055, 120548091-120548098, 120572547, 120572572, 120572609-120572610, 120611964, 120611980-120612013
38PRPF310.99171539961014172052150305590, 150305600-150305601, 150305606-150305609, 150318595-150318597, 150325444-150325450
39FLG10.9599540456261348812186152277072-152277087, 152277434, 152277437, 152277966, 152278046-152278052, 152278431-152278437, 152279406, 152279870-152279895, 152279988-152280005, 152280076, 152280170-152280191, 152280337-152280338, 152280960-152280966, 152281140, 152281143-152281145, 152281202-152281208, 152281581, 152281589, 152281694, 152281928-152281950, 152282132, 152282138, 152282298, 152282413-152282422, 152282567, 152282723-152282732, 152282809-152282815, 152283084-152283107, 152283760, 152284064-152284067, 152284072-152284079, 152284140-152284166, 152284240, 152284244-152284245, 152284302-152284319, 152284332-152284336, 152284351, 152284500, 152284836-152284882, 152285012-152285039, 152285051-152285053, 152285116-152285154, 152285172-152285190, 152285244, 152285686, 152285708-152285756, 152286023-152286028, 152286138, 152286141, 152286845-152286850, 152287031-152287032, 152287817-152287831
40LMNA10.9959899749373481995156108288-156108289, 156108292-156108294, 156108298-156108299, 156108303
41DARS210.9994840041279711938173794391
42CFHR510.9994152046783611710196967333
43ASPM10.997124784358833010434197115460-197115489
44PKP110.99358092618065142181201282428-201282439, 201292218-201292219
45PSEN210.99183370452858111347227071478-227071481, 227073239-227073245
46ADCK310.872427983539092481944227149105-227149113, 227149116-227149118, 227152782-227152785, 227152812-227152829, 227152831-227152839, 227152901-227152904, 227152913-227152933, 227152983, 227153031, 227153042, 227153071, 227153406-227153422, 227169761-227169768, 227169785-227169799, 227169820-227169827, 227169833-227169838, 227169842-227169846, 227170379-227170381, 227170419, 227170461-227170464, 227170601, 227170625-227170662, 227170693-227170694, 227170711, 227171321-227171324, 227171473-227171488, 227171551-227171552, 227171802-227171804, 227171895-227171911, 227172341, 227172345-227172347, 227172955-227172972, 227174432-227174433, 227174436
47GJC210.279545454545459511320228345512-228345540, 228345565-228345576, 228345588-228345593, 228345599-228345615, 228345638-228345713, 228345744-228345815, 228345825-228345898, 228345948-228345968, 228345976-228345986, 228345992-228346236, 228346260-228346263, 228346281-228346460, 228346466-228346568, 228346582-228346607, 228346635-228346678, 228346682-228346684, 228346752-228346779
48ACTA110.891534391534391231134229567741-229567745, 229567820, 229567849, 229567860-229567871, 229567876, 229567897-229567904, 229567930-229567932, 229568017-229568055, 229568080-229568087, 229568113-229568131, 229568160-229568178, 229568487-229568493
49LYST10.991495704015439711406235907279-235907281, 235907340-235907343, 235915328-235915339, 235916504-235916505, 235933538, 235944273-235944290, 235944298, 235945291-235945310, 235950500-235950520, 235950636-235950637, 235955148-235955150, 235956833-235956836, 235972433-235972438
50ACTN210.9973929236499172685236850012-236850018
51RYR210.999329039184111014904237821244-237821248, 237821260-237821264
52NET1100.993299832495811217915454751-5454761, 5498551
53GATA3100.99625468164794513358100742-8100746
54PTF1A100.3302938196555266198723481460-23481476, 23481487-23481509, 23481519-23481521, 23481525-23481554, 23481565-23481574, 23481581, 23481619-23481828, 23481836-23481987, 23482017-23482145, 23482153-23482192, 23482230-23482243, 23482681-23482712
55MASTL100.999620781190751263727459109
56RET100.9730941704035990334543572707-43572775, 43596049-43596051, 43606839-43606856
57ERCC6100.9928603302097332448250740712-50740715, 50740816-50740835, 50740838, 50740930-50740936
58CHAT100.999109924343572224750822355, 50822415
59EGR2100.9923130677847711143164573019-64573029
60CDH23100.99105011933174901005673462322-73462336, 73464668-73464672, 73464682-73464688, 73464749-73464781, 73464808, 73464857-73464859, 73537503-73537518, 73539186-73539191, 73569813-73569816
61LDB3100.9848901098901133218488466304-88466314, 88466378-88466379, 88466462-88466471, 88476462-88476470, 88492733
62BMPR1A100.999374609130711159988683146
63GLUD1100.9576624925462171167788854425-88854495
64PLCE1100.999421045013754690996005928-96005931
65HPS1100.98243114909782372106100177329, 100177332-100177336, 100177367-100177388, 100177951-100177959
66FBXW4100.9975786924939531239103454358-103454360
67HPS6100.97036082474227692328103825240-103825243, 103825272-103825282, 103825289, 103825411-103825418, 103825421-103825422, 103825443-103825461, 103825467, 103825573-103825580, 103825674, 103825677, 103825687, 103825697, 103825732, 103825802-103825805, 103826264, 103827440, 103827443-103827444, 103827450-103827451
68SUFU100.98762886597938181455104263984-104264001
69CYP17A1100.9967256057629351527104595011-104595015
70COL17A1100.9997774810858914494105816910
71BAG3100.98090277777778331728121411226-121411229, 121411309-121411337
72HTRA1100.772695772695773281443124221169-124221430, 124221457-124221487, 124221560, 124221572-124221578, 124221584-124221585, 124221590, 124266210-124266233
73HRAS110.33508771929825379570532661-532712, 532728-532748, 533453-533485, 533494-533565, 533793-533827, 533838-533889, 533910-533939, 534212-534251, 534260-534303
74TALDO1110.95266272189349481014747491, 747553-747559, 763344, 763347-763357, 763403-763429, 763455
75SLC25A22110.61625514403292373972791933, 791941-791950, 791983-791989, 792028-792068, 792174-792201, 792324-792360, 792379-792433, 792588-792609, 792639-792646, 792649-792662, 792666-792670, 792688-792703, 792726, 792926-792947, 792967-792969, 792985, 793592-793600, 794458-794468, 794477-794511, 794776-794799, 794887-794901, 794995-795002
76PNPLA2110.685148514851494771515819719-819736, 819745, 819749, 819752, 819782-819905, 821628-821653, 821721-821723, 821752-821755, 821963, 822002-822023, 823532-823579, 823733-823736, 823739, 823777, 823809, 823854-823855, 823998-824000, 824002-824035, 824045, 824090-824091, 824104-824109, 824123, 824126, 824318-824319, 824337-824343, 824349, 824413-824420, 824423-824436, 824529-824563, 824591, 824597, 824636-824736, 824829
77CTSD110.8071025020177623912391774741-1774757, 1774833-1774834, 1774849-1774861, 1775033-1775046, 1775104-1775105, 1775234-1775245, 1775249-1775252, 1775268, 1775271-1775289, 1775297-1775299, 1775309-1775320, 1775330, 1775333-1775335, 1775337, 1775343-1775347, 1775350-1775368, 1780246-1780260, 1780265, 1780776, 1780823-1780825, 1782652-1782674, 1785022-1785089
78TNNI2110.92531876138434415491861633-1861648, 1861758-1861764, 1861840, 1862062-1862069, 1862265-1862268, 1862287, 1862366-1862369
79TNNT3110.169884169884176457771946329-1946330, 1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953699-1953702, 1953724, 1953734-1953738, 1954951-1955067, 1955161-1955238, 1955562-1955569, 1955574-1955576, 1955583-1955584, 1955591, 1955593-1955651, 1955658-1955675, 1955776-1955841, 1955851-1955885, 1956059-1956149, 1958193-1958233, 1959668-1959722
80H19110.99626517273576410712017757, 2018109-2018110, 2018168
81IGF2110.329113924050634777112154218-2154225, 2154232-2154281, 2154297-2154304, 2154310-2154422, 2154431-2154452, 2154760-2154762, 2154770-2154778, 2154804-2154812, 2154818, 2154836-2154879, 2156634-2156696, 2156710, 2156740-2156759, 2161365-2161384, 2161403-2161433, 2161447-2161492, 2161498-2161526
82TH110.034920634920635152015752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189112, 2189123-2189163, 2189321-2189399, 2189721-2189895, 2190880-2190926, 2190940-2191101, 2191920-2192000, 2192927-2192994
83KCNQ1110.8094534711964538720312466329-2466714, 2593291
84CDKN1C110.137749737118828209512905238-2905290, 2905293-2905295, 2905315-2905357, 2905363-2905364, 2905900-2906015, 2906036-2906301, 2906311-2906533, 2906545-2906546, 2906550-2906638, 2906642-2906644, 2906654-2906673
85SMPD1110.991033755274261718966411931-6411947
86ABCC8110.985040033712671474617498219-17498224, 17498254-17498317, 17498323
87ANO5110.998541210795044274222277021-22277022, 22277037-22277038
88WT1110.88867438867439173155432456425-32456434, 32456439, 32456446-32456459, 32456562, 32456586-32456634, 32456659-32456703, 32456727-32456765, 32456803, 32456846, 32456851-32456862
89SLC35C1110.9895833333333311105645827422-45827432
90PEX16110.9606147934678241104145937376-45937377, 45939259-45939295, 45939361-45939362
91F2110.9834135901551631186946741357, 46744819-46744828, 46744995-46745001, 46745014, 46745038-46745046, 46747499, 46747562-46747563
92MYBPC3110.9869281045751650382547368988-47369002, 47371438-47371445, 47371457-47371460, 47371472-47371473, 47372125-47372145
93SLC39A13110.9784946236559124111647431772-47431778, 47434986, 47436839, 47436845-47436859
94RAPSN110.90072639225182123123947459526-47459534, 47459545-47459564, 47460292-47460299, 47460380-47460384, 47460431-47460432, 47460453, 47460466-47460482, 47463405, 47463408-47463413, 47463468, 47464268-47464271, 47464274, 47464284-47464289, 47470452-47470493
95SERPING1110.9886892880904917150357381925-57381940, 57381955
96SLC22A12110.67569193742479539166264359035-64359038, 64359088-64359112, 64359177-64359205, 64359254-64359266, 64359281-64359307, 64359335-64359360, 64359368-64359399, 64360251-64360261, 64360274, 64360283-64360292, 64360948-64360951, 64360958, 64360962-64360964, 64360967, 64360994-64361031, 64361107-64361116, 64361159-64361191, 64361208-64361244, 64366015-64366016, 64366095-64366097, 64366300-64366313, 64366352-64366355, 64367157-64367197, 64367206-64367292, 64367311-64367349, 64367850-64367868, 64368307-64368327, 64368332, 64368343, 64368965-64368966
97PYGM110.9758797943851361252964521019, 64521022-64521037, 64521427-64521435, 64526085, 64527128-64527130, 64527155, 64527193-64527222
98MEN1110.999458874458871184864577580
99SPTBN2110.98145824620103133717366460713-66460716, 66461297, 66461300-66461301, 66468029, 66468035, 66468044, 66468235, 66468310-66468316, 66468321, 66468329, 66468399, 66468403, 66468451, 66468520, 66468741-66468745, 66468750-66468752, 66469148, 66472740, 66473252-66473253, 66475089-66475097, 66475107, 66475205, 66475239-66475263, 66475631, 66475641, 66475664-66475711, 66478184, 66478199-66478206, 66478426, 66481796
100PC110.9912355103194831353766617439-66617441, 66617707-66617710, 66617716, 66618629-66618632, 66620036-66620041, 66631269-66631270, 66638891, 66639186-66639189, 66639199-66639204
101CABP4110.8502415458937212482867222931-67222978, 67223105, 67223122, 67223137-67223143, 67223173-67223204, 67223249-67223260, 67223659-67223662, 67223884, 67225904-67225914, 67225918-67225924
102AIP110.263846928499573199367254503-67254509, 67254540-67254542, 67254551-67254570, 67254590-67254593, 67254597-67254599, 67254604-67254607, 67254634, 67256751-67256926, 67257509-67257685, 67257787-67257928, 67258259-67258422, 67258435-67258464
103NDUFS8110.919431279620855163367799649, 67799666, 67799797, 67800456-67800473, 67800623, 67800653-67800656, 67800682-67800697, 67800710-67800712, 67803948-67803953
104TCIRG1110.79743281187325505249367808739-67808747, 67808812-67808830, 67810156, 67810171, 67810205-67810224, 67810250-67810308, 67810462, 67810910-67810917, 67811065-67811080, 67811296-67811339, 67811344-67811359, 67811619-67811663, 67811691-67811711, 67811772, 67811787, 67811793-67811795, 67812533-67812542, 67814999-67815012, 67815114-67815116, 67815230-67815259, 67816388-67816400, 67816464, 67816548-67816582, 67816622-67816623, 67816626-67816639, 67816727-67816729, 67817130-67817159, 67817164, 67817181-67817218, 67817472-67817474, 67817615-67817621, 67817665-67817698, 67817981, 67817989
105LRP5110.9723597359736134484868080183-68080273, 68174089, 68174092, 68177551, 68179040, 68204450-68204452, 68207347-68207367, 68207379-68207381, 68213905, 68216343, 68216413-68216418, 68216460-68216461, 68216516, 68216521
106IGHMBP2110.9849094567404445298268671421, 68671473, 68671477-68671488, 68704525-68704555
107MYO7A110.758273164861611607664876853783, 76858852-76858859, 76858890-76858912, 76867745, 76868025, 76869402-76869406, 76873230, 76873267, 76873353-76873359, 76883794-76883814, 76883825-76883883, 76883908-76883910, 76883923, 76885802-76885870, 76885890-76885950, 76885952, 76885957-76885960, 76886418-76886451, 76886468-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893569, 76893580-76893618, 76893627-76893645, 76894113-76894181, 76894192, 76894198-76894200, 76895644-76895662, 76895710-76895731, 76895740, 76895755, 76901079-76901107, 76901114, 76901144-76901168, 76901788, 76901792-76901801, 76901893
108ALG8110.9854522454142923158177812219-77812241
109FZD4110.9826517967781928161486666075-86666102
110TRPC6110.98533619456366412796101325788, 101454155-101454174, 101454200-101454219
111DLAT110.9917695473251161944111896230-111896234, 111896281-111896282, 111896977, 111896984-111896986, 111931812-111931816
112APOA1110.9539800995024937804116706711, 116706785-116706816, 116706890-116706893
113ACAD8110.9935897435897481248134128958-134128965
114WNK1120.962512239474052687149862732-862777, 862823-862830, 862843-862845, 862961-863001, 863034-863085, 863144-863155, 863171-863211, 863256-863319, 994404
115CACNA1C120.978509373571114165612676746-2676766, 2676773-2676818, 2676851-2676857, 2676872, 2676887-2676903, 2676931-2676948, 2774116-2774117, 2788869, 2788879, 2788882-2788886, 2794934-2794940, 2794974-2794980, 2797819-2797823, 2797894-2797895, 2797899
116VWF120.9821132433072715184426125328-6125344, 6125722-6125728, 6127655-6127661, 6128064-6128105, 6128449-6128451, 6131925-6131932, 6131955-6131982, 6132003-6132033, 6166046-6166052, 6230434
117TNFRSF1A120.991228070175441213686438480, 6438595-6438597, 6438605-6438608, 6438611-6438612, 6438615, 6450945
118TPI1120.98133333333333147506976731-6976744
119ATN1120.99916036943745335737045892-7045894
120KRAS120.98421052631579957025380188-25380196
121DNM1L120.9954771596562610221132866234-32866243
122PKP2120.95982498011138101251433049443-33049457, 33049469, 33049530-33049561, 33049611-33049615, 33049618-33049665
123KIF21A120.998596068993187498639713784, 39726788-39726793
124LRRK2120.9956487341772233758440687369-40687377, 40692101-40692106, 40692914-40692918, 40699616-40699624, 40713873, 40761456, 40761539, 40761542
125IRAK4120.999276934201011138344180259
126VDR120.999221183800621128448251345
127COL2A1120.999103942652334446448377519, 48398064-48398066
128MLL2120.991753942458171371661449426149-49426157, 49426651-49426656, 49426724, 49426728, 49426772-49426774, 49426846-49426858, 49426862, 49426900-49426902, 49427044-49427046, 49427050, 49427265, 49427268-49427287, 49427311, 49427314-49427320, 49431069-49431074, 49431282-49431283, 49431306-49431313, 49431519, 49431525-49431526, 49431531, 49431554-49431555, 49431747-49431754, 49431848, 49431915-49431926, 49432532-49432545, 49433313-49433322
129TUBA1A120.98464912280702745649522308-49522314
130KRT81120.9558629776021167151852682999-52683005, 52684029-52684062, 52685069-52685071, 52685115, 52685125-52685132, 52685184-52685197
131KRT86120.9794661190965130146152695748-52695750, 52695803, 52696892-52696916, 52697952
132KRT83120.999325236167341148252715005
133KRT6B120.9681415929203554169552845528-52845534, 52845584-52845613, 52845677-52845686, 52845798-52845804
134KRT6C120.9840707964601827169552865925, 52867187-52867193, 52867257-52867263, 52867324, 52867339-52867342, 52867457-52867463
135KRT6A120.995870206489687169552886908-52886914
136GNS120.9795057263411734165965152888, 65152961-65152988, 65152991, 65153008, 65153015, 65153020-65153021
137LEMD3120.998903508771933273665563394, 65563397, 65563758
138CEP290120.9940860215053844744088443067, 88519077-88519103, 88520109, 88520112-88520116, 88522723, 88532944, 88534750-88534757
139HAL120.999493414387031197496370234
140TMPO120.998081534772184208598909897-98909900
141GNPTAB120.9989392734022843771102224433-102224436
142UNG120.995753715498944942109535591, 109535600-109535602
143MMAB120.9428950863213843753109998847-109998849, 110011201-110011203, 110011229-110011238, 110011240-110011254, 110011264-110011274, 110011280
144TRPV4120.98585626911315372616110246170-110246206
145ATXN2120.858954845256225563942111891566, 111893919-111893922, 111902493-111902494, 111902498-111902506, 111908020, 111908414-111908420, 111926410, 112036588-112036844, 112036851-112036868, 112036872-112036876, 112036893-112037029, 112037046-112037097, 112037119-112037137, 112037193, 112037216-112037225, 112037246, 112037258-112037285, 112037316-112037318
146HNF1A120.9952531645569691896121434538-121434539, 121438899-121438905
147HPD120.9932318104906981182122287690-122287696, 122295335
148ATP6V0A2120.9988331388564832571124197159, 124197162, 124197229
149PUS1120.98598130841122181284132414278, 132414453, 132414462, 132414537-132414540, 132414597, 132425984-132425988, 132426257-132426260, 132426401
150SACS130.99876273653566171374023915085-23915086, 23915414-23915426, 23949267-23949268
151B3GALTL130.9579158316633363149731774222-31774265, 31774271-31774277, 31774280-31774291
152FREM2130.9984227129337515951039261568-39261570, 39261907-39261914, 39262057-39262060
153SUCLA2130.996408045977015139248571095-48571099
154RNASEH2B130.989350372736951093951484223-51484232
155ZIC2130.839274546591622571599100634364-100634370, 100634390-100634420, 100634443-100634447, 100634528-100634560, 100634580-100634611, 100634751-100634758, 100634815-100634818, 100635008-100635013, 100635060-100635066, 100637650-100637660, 100637682-100637683, 100637709-100637714, 100637724-100637756, 100637780, 100637792-100637844, 100637855, 100637904-100637907, 100637917, 100637925-100637936
156PCCA130.97713763145862502187100764247, 101101511-101101559
157COL4A1130.99101796407186455010110959301-110959319, 110959334-110959359
158F7130.570037453183525741335113760156-113760179, 113760189-113760204, 113760217-113760219, 113765005-113765012, 113765019, 113765028-113765048, 113765051, 113765054, 113765057-113765059, 113765064-113765068, 113765073-113765076, 113765090-113765134, 113769974-113769995, 113769997-113770028, 113770032-113770034, 113770048-113770058, 113770060-113770079, 113771165-113771174, 113771820, 113771830-113771836, 113772734, 113772743-113772756, 113772771-113772786, 113772797-113772798, 113772803, 113772816-113772855, 113772858-113772859, 113772882-113772897, 113772924, 113772928-113772947, 113772950-113773017, 113773024-113773048, 113773103-113773107, 113773112-113773116, 113773137-113773140, 113773155-113773270
159F10130.762099522835723491467113777180-113777184, 113777213-113777229, 113795235-113795236, 113795275-113795282, 113798218-113798239, 113798263-113798275, 113798301-113798303, 113798318, 113798369-113798377, 113798395-113798409, 113803230-113803263, 113803297-113803325, 113803353-113803383, 113803425-113803432, 113803512-113803600, 113803627-113803628, 113803666-113803691, 113803763-113803768, 113803789, 113803795-113803822
160GRK1130.881796690307332001692114321721, 114321769, 114321819-114321827, 114321830, 114321842-114321872, 114321926-114321943, 114321991, 114322036-114322043, 114322113-114322145, 114322160-114322166, 114322198-114322208, 114322335, 114325873-114325879, 114325929-114325971, 114426047-114426049, 114426080-114426093, 114426097, 114436049-114436058
161TEP1140.999112125824457788420841266-20841271, 20844387
162SLC7A7140.9980468753153623282124-23282126
163PABPN1140.967426710097723092123790918, 23790924, 23790933-23790959, 23791014
164MYH6140.9974226804123715582023857398-23857400, 23858613, 23863308-23863317, 23870121
165MYH7140.999311294765844580823894070-23894073
166NRL140.99019607843137771424550554-24550556, 24550611-24550613, 24550617
167TGM1140.9755501222493960245424724292, 24724407, 24724413-24724416, 24724429, 24724640, 24725215-24725222, 24727589, 24731448-24731490
168FOXG1140.76734693877551342147029236603-29236609, 29236620-29236945, 29237047-29237055
169COCH140.9745916515426542165331344266-31344307
170CFL2140.98802395209581650135182277-35182279, 35183744-35183746
171NKX2-1140.9635157545605344120636986887-36986904, 36988374-36988399
172FANCM140.999511957052223614745644589, 45654485-45654486
173MGAT2140.997023809523814134450088177-50088180
174C14orf104140.90294351630867244251450100384, 50100587, 50100666-50100669, 50100683, 50100756-50100757, 50100772, 50100885, 50100975-50101030, 50101095-50101126, 50101193-50101200, 50101203-50101208, 50101215-50101253, 50101335-50101337, 50101350-50101358, 50101370, 50101420-50101425, 50101454-50101479, 50101522-50101552, 50101582-50101589, 50101849-50101856
175L2HGDH140.994971264367827139250713886, 50778766-50778771
176PYGL140.997248427672967254451410952-51410958
177GCH1140.896414342629487875355369096-55369138, 55369233-55369263, 55369347, 55369353-55369354, 55369365
178OTX2140.980984340044741789457268882-57268890, 57268896, 57271029-57271035
179SYNE2140.9991314418066182072464483272-64483287, 64484381, 64556387
180VSX2140.9659300184162137108674706430-74706436, 74706457-74706463, 74727396-74727417, 74727555
181EIF2B2140.998106060606062105675469749-75469750
182POMT2140.9937860630270814225377786863, 77786867-77786875, 77786882, 77786899, 77786902-77786903
183TTC8140.9935400516795910154889343712-89343721
184AMN140.03744493392070513111362103389026-103389068, 103390048-103390113, 103390127-103390166, 103390272-103390276, 103390279-103390285, 103390288-103390293, 103390299-103390316, 103394763-103394837, 103394846-103394850, 103395095-103395232, 103395243-103395312, 103395458-103395595, 103395765-103395838, 103395850-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
185INF2140.516818123750105167703-105167713, 105167724-105167725, 105167759-105167791, 105167804, 105167807, 105167817, 105167820, 105167843-105167883, 105167898-105167933, 105167939, 105167953-105167958, 105167962, 105167965, 105167988-105168025, 105168047, 105169468-105169492, 105169545-105169557, 105169636-105169680, 105169745-105169746, 105169750-105169760, 105169774, 105169785-105169789, 105170253-105170279, 105172377-105172408, 105172423, 105172465-105172489, 105172496-105172513, 105173247-105173268, 105173305-105173321, 105173328, 105173372-105173383, 105173597, 105173618, 105173624, 105173688-105173731, 105173742-105173807, 105173810-105173811, 105173856-105174231, 105174245-105174276, 105174295-105174335, 105174780-105174851, 105174864, 105174876, 105174879-105174901, 105175057, 105175060-105175061, 105175618-105175652, 105175993-105175995, 105176018-105176042, 105176425-105176459, 105176481, 105176502, 105176508, 105176516, 105176521, 105177274-105177284, 105177293-105177335, 105177430, 105177473-105177519, 105177973-105177976, 105178005, 105178035-105178036, 105178770-105178799, 105178821-105178834, 105178862, 105178865-105178878, 105178883, 105179170-105179198, 105179242-105179275, 105179327-105179329, 105179544, 105179580-105179646, 105179782-105179785, 105179823-105179853, 105179908-105179919, 105180540-105180543, 105180665, 105180690, 105180694-105180706, 105180710, 105180714-105180728, 105180740-105180747, 105180792-105180817, 105180896, 105180911, 105180923-105180932, 105180954-105180977, 105180988-105181036, 105181052-105181065, 105181083-105181114, 105181125-105181159, 105181181-105181193, 105181634-105181648
186NIPA1150.8070707070707119199023048992-23048998, 23049053-23049058, 23086234-23086411
187UBE3A150.9946727549467314262825584284-25584289, 25615777-25615783, 25616451
188OCA2150.9928486293206218251728235772-28235773, 28273133-28273143, 28273159-28273160, 28326947-28326948, 28326977
189SLC12A6150.997393570807999345334628834-34628842
190IVD150.99921935987511128140698088
191CHST14150.9221927497789688113140763451-40763480, 40763487-40763536, 40763573-40763577, 40763802-40763804
192CDAN1150.9801845819761173368443022932-43022936, 43028670-43028718, 43028753, 43028800-43028810, 43029227-43029233
193STRC150.97503753753754133532843896303-43896312, 43897496-43897502, 43900116-43900156, 43907745-43907751, 43907817-43907823, 43909876-43909894, 43910440, 43910863-43910903
194STRC150.9830769230769233195044007207-44007213, 44007279-44007285, 44009338-44009356
195SPG11150.999590834697223733244864900, 44864905, 44864949
196DUOX2150.9892403701312750464745403413-45403462
197CEP152150.999395770392753496549059569-49059571
198CLN6150.974358974358972493668500480-68500490, 68502074, 68521870-68521881
199NR2E3150.999094202898551110472105801
200HEXA150.996855345911955159072668127, 72668279-72668282
201HCN4150.86212624584718498361273615059, 73615231, 73659983, 73659987, 73659989, 73659998-73660006, 73660030-73660063, 73660071-73660082, 73660119-73660184, 73660197-73660475, 73660489-73660528, 73660547-73660594, 73660607-73660611
202MPI150.997641509433963127275190045, 75190055, 75190067
203PSTPIP1150.149480415667471064125177310489-77310531, 77310554-77310567, 77310576-77310585, 77310798-77310872, 77317633, 77317839-77317875, 77317890-77317943, 77320195-77320240, 77320895-77320993, 77321875-77321892, 77321907-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324651, 77324673-77324705, 77324716-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
204POLG150.9919354838709730372089873481-89873499, 89876817-89876820, 89876824-89876830
205MESP2150.9882747068676714119490319864-90319874, 90320146, 90320149, 90320161
206BLM150.9955336154207819425491337541-91337544, 91337554-91337564, 91347483-91347486
207VPS33B150.999460625674221185491548935
208IGF1R150.9941520467836324410499192877-99192900
209HBZ160.64801864801865151429202983, 203899, 203929-203979, 203990-204009, 204083-204095, 204271-204309, 204317-204342
210HBA2160.8181818181818278429222912-222916, 222924, 222927-222929, 222932, 222957-222997, 223005-223006, 223237-223258, 223303, 223312, 223318
211GNPTG160.779956427015252029181401967-1401980, 1402006-1402018, 1402103-1402145, 1402160, 1402240-1402299, 1412039-1412055, 1412268-1412316, 1412480-1412482, 1413052-1413053
212CLCN7160.55334987593052108024181496632-1496718, 1497014-1497087, 1497393-1497414, 1497418-1497428, 1497449-1497496, 1497515-1497569, 1497656-1497685, 1497709-1497715, 1498356, 1498375-1498381, 1498389-1498392, 1498403, 1498412, 1498417-1498448, 1498468-1498485, 1498682-1498687, 1498725-1498727, 1498735-1498767, 1499002-1499071, 1499093-1499094, 1499277-1499328, 1500499, 1500504-1500561, 1500568-1500644, 1500657-1500667, 1501624-1501642, 1501683-1501697, 1502787, 1502810-1502858, 1502873-1502877, 1503839-1503869, 1504414-1504428, 1504440-1504466, 1505137-1505161, 1505209-1505210, 1505250-1505251, 1505751-1505761, 1506116-1506124, 1506158-1506170, 1506188-1506207, 1507332-1507338, 1524842-1524874, 1524891-1524975
213IGFALS160.6790890269151162019321840601-1840602, 1840605-1840606, 1840628-1840661, 1840707-1840709, 1840712-1840714, 1840744-1840752, 1840763-1840766, 1840834-1840851, 1840943-1841026, 1841040-1841043, 1841103-1841108, 1841134-1841183, 1841258-1841298, 1841312-1841344, 1841374-1841389, 1841448-1841476, 1841501, 1841530, 1841535, 1841546-1841585, 1841608-1841641, 1841694-1841699, 1841763-1841764, 1841825-1841831, 1841914-1841926, 1841954-1841976, 1841980-1841990, 1842022-1842035, 1842107-1842130, 1842254-1842270, 1842322-1842366, 1842407-1842449
214GFER160.312297734627834256182034220-2034477, 2034748-2034873, 2034895-2034899, 2035868, 2035906-2035929, 2035978, 2035982, 2035985-2035986, 2035991, 2035998, 2036001-2036003, 2036006, 2036021
215TSC2160.33591445427729360254242098644-2098679, 2103343-2103368, 2103395-2103408, 2103419-2103451, 2108754, 2108786, 2108872, 2110671-2110676, 2110699, 2110715-2110719, 2110722, 2110780-2110786, 2112511, 2112535, 2112541, 2112545, 2112548-2112558, 2112973-2113002, 2113037, 2113048-2113054, 2114273-2114286, 2114299, 2114309, 2114315-2114317, 2114355-2114384, 2114395-2114428, 2115529-2115557, 2115578, 2115582-2115583, 2115593-2115607, 2120462-2120467, 2120478-2120497, 2120512-2120534, 2120544-2120579, 2121522-2121560, 2121573-2121591, 2121605-2121617, 2121791-2121815, 2121838-2121935, 2122247-2122252, 2122264-2122270, 2122285-2122320, 2122334-2122364, 2122850-2122875, 2122927-2122960, 2124203-2124256, 2124261-2124263, 2124274-2124283, 2124288-2124289, 2124319-2124323, 2124333-2124338, 2124343-2124378, 2125800-2125820, 2125827-2125882, 2126136-2126158, 2126167-2126171, 2126492-2126507, 2126519-2126586, 2127599-2127727, 2129033-2129135, 2129146-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138461-2138611
216PKD1160.001239157372986412896129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143648, 2143659-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168733, 2168740-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
217ABCA3160.9573802541544521851152328333-2328335, 2328446-2328453, 2328979-2328981, 2328984-2328985, 2329027-2329033, 2331182-2331183, 2331389-2331390, 2333187-2333205, 2333301-2333313, 2333320, 2334319-2334325, 2334338, 2334347-2334356, 2334967-2334983, 2347332-2347341, 2347393-2347405, 2347472, 2347778-2347807, 2347883-2347910, 2348500, 2349426-2349427, 2350012-2350013, 2350017, 2350040-2350045, 2358609-2358619, 2367684-2367690, 2369612-2369613, 2369655, 2369666-2369668, 2369790, 2369793, 2373574, 2376050-2376051
218MEFV160.99957374254049123463304654
219CREBBP160.980352026197314473293777750, 3777767-3777794, 3777813, 3778049, 3778289-3778290, 3778297-3778303, 3778381-3778397, 3778405, 3778451-3778459, 3778597, 3778627-3778649, 3778799, 3778898-3778900, 3778906-3778907, 3778943-3778949, 3778980-3779004, 3779172-3779178, 3779454, 3779457, 3779481, 3779485-3779488, 3779492
220GLIS2160.074285714285714145815754382282-4382312, 4382318-4382329, 4382349, 4382384-4382453, 4383348-4383364, 4383375-4383510, 4384802-4384910, 4384916-4384978, 4385061-4385066, 4385075-4385173, 4385193, 4385276-4385394, 4386726-4386779, 4386786-4387525
221ALG1160.8530465949820820513955128801-5128842, 5128848-5128873, 5129065-5129095, 5129799, 5130968-5131057, 5133683, 5133752-5133758, 5134813-5134819
222ABAT160.99667332002661515038866758-8866762
223ABCC6160.8167109929078827451216244037-16244041, 16253339, 16255354-16255370, 16256862-16256864, 16256868, 16256909-16256910, 16256996-16257001, 16257014, 16257046-16257049, 16259499-16259543, 16259571-16259647, 16259676-16259727, 16263503-16263556, 16263590-16263600, 16263604-16263610, 16263632-16263633, 16263673-16263704, 16267162-16267214, 16267221-16267226, 16267231, 16267239, 16267243-16267261, 16269770-16269803, 16269817-16269826, 16269842-16269843, 16271316-16271335, 16271343-16271344, 16271347-16271348, 16271357-16271359, 16271374-16271423, 16271441, 16271450-16271483, 16272660-16272714, 16272747-16272771, 16272783-16272822, 16276273-16276305, 16276319-16276322, 16276439-16276445, 16276675, 16276708-16276729, 16276746-16276778, 16278890-16278891, 16281053-16281055, 16284113-16284122, 16284212, 16286723, 16291882-16291889, 16291942-16291957, 16291971, 16291983, 16292013, 16315630, 16317279-16317280, 16317285, 16317291
224UMOD160.998959958398342192320360202, 20360324
225OTOA160.9921052631578927342021690241, 21696603-21696621, 21747694-21747700
226PALB2160.9952260600954817356123647452-23647468
227CLN3160.90432801822323126131728493969, 28493974-28493993, 28497677, 28497684-28497692, 28497703-28497728, 28497738-28497739, 28497750, 28497753, 28498834-28498836, 28498997-28499026, 28499912-28499942, 28502863
228TUFM160.9861111111111119136828857572-28857590
229ATP2A1160.9953426480372614300628900160, 28912013, 28912156, 28915501-28915511
230CD19160.999401555954521167128950063
231PHKG2160.9991809991811122130764788
232VKORC1160.98577235772358749231102648-31102650, 31102655-31102658
233FUS160.996837444655285158131195678, 31195681-31195683, 31195692
234SLC5A2160.9900941059930720201931500005-31500015, 31500465-31500473
235NOD2160.9910342619276328312350744828-50744829, 50745124, 50745369-50745375, 50745511-50745517, 50745560-50745563, 50745889-50745895
236CYLD160.999650593990221286250826594
237SALL1160.99773584905669397551175656-51175664
238MMP2160.9944528492183611198355513392-55513395, 55513420-55513426
239SLC12A3160.9848043970255447309356920979, 56921870-56921875, 56921904-56921943
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326ELANE190.34950248756219523804852329-852359, 852876-852901, 852913-853032, 853262-853403, 855571-855632, 855657-855661, 855693-855700, 855731-855733, 855745-855781, 855967-855988, 856004, 856010-856030, 856069, 856081, 856091-856094, 856101-856103, 856129-856164
327KISS1R190.82038429406852151197917536-917574, 917594-917597, 917610-917645, 917711, 917714, 918587, 918591, 918594, 918656-918668, 919490-919506, 919901, 919974, 920314-920380, 920578-920586, 920699-920721
328STK11190.4070660522273477213021207022-1207025, 1218474-1218476, 1218496-1218499, 1219323-1219330, 1219338-1219412, 1220372-1220375, 1220388-1220390, 1220403-1220463, 1220484-1220504, 1220580-1220658, 1220675-1220716, 1221212-1221216, 1221227-1221287, 1221300-1221339, 1221966-1222005, 1222984-1223010, 1223019-1223084, 1223095-1223097, 1223104-1223144, 1223154-1223171, 1226453-1226455, 1226459-1226486, 1226497, 1226512-1226646
329NDUFS7190.593457943925232616421383926-1383939, 1387810-1387834, 1388524-1388546, 1388558-1388584, 1388906, 1390870, 1390906, 1391001-1391005, 1391118-1391122, 1391146-1391162, 1393242-1393255, 1393276-1393300, 1393316-1393329, 1395390-1395474, 1395484-1395487
330GAMT190.323456790123465488101398675-1398683, 1398711-1398745, 1398773-1398784, 1398795, 1398811, 1398827, 1398836-1398892, 1398915-1398962, 1398992-1399025, 1399127-1399174, 1399184-1399186, 1399534-1399568, 1399799-1399861, 1399874-1399879, 1399886-1399937, 1401295-1401320, 1401341-1401386, 1401394-1401464
331RAX2190.738738738738741455553770661-3770684, 3770694-3770716, 3770751-3770752, 3770758, 3770764, 3770779, 3770821, 3770877-3770919, 3770938-3770952, 3771525, 3771623-3771655
332MAP2K2190.5818786367414850312034090596-4090640, 4090681-4090685, 4090688-4090691, 4094451-4094496, 4095392-4095419, 4097286-4097290, 4097324-4097341, 4099199-4099322, 4099356-4099412, 4101065-4101069, 4101103-4101134, 4102440-4102441, 4102449-4102450, 4110539-4110553, 4110557-4110562, 4110589-4110591, 4117423-4117431, 4117445, 4117477, 4117555, 4117559, 4117574, 4123781-4123872
333NDUFA11190.89906103286385434265903623-5903652, 5903660-5903671, 5903702
334TUBB4190.991760299625471113356495239-6495247, 6502222-6502223
335C3190.9659455128205117049926693440, 6693471, 6693486-6693487, 6697406, 6697803, 6707087, 6707099-6707131, 6707155, 6707234-6707248, 6709719-6709742, 6709753, 6709760, 6709764, 6709771, 6709781-6709795, 6709820-6709834, 6709837, 6710739, 6713506-6713520, 6714008-6714023, 6714047-6714066, 6714069, 6714072, 6714190
336INSR190.9404675825500124741497132202, 7150536, 7152739, 7152780-7152848, 7163043-7163082, 7163109, 7172331, 7184349-7184356, 7184368-7184409, 7184443, 7184446, 7184452, 7184464, 7184549-7184563, 7293823, 7293832-7293838, 7293847-7293902
337MCOLN1190.959265633964437117437594006, 7594488-7594507, 7594527, 7595247-7595255, 7595263-7595266, 7598411-7598412, 7598419, 7598483-7598499, 7598502, 7598509-7598520, 7598524, 7598664, 7598674
338PNPLA6190.9116465863453835239847600456, 7600859-7600880, 7606912-7606948, 7607660, 7607940, 7607964-7607969, 7614793-7614819, 7614860-7614890, 7614978-7614979, 7615196-7615198, 7615260-7615315, 7615403, 7615418-7615455, 7615499-7615523, 7615892-7615941, 7615950-7615959, 7616261-7616300, 7621588
339STXBP2190.9203142536475914217827702036-7702039, 7702067, 7706685-7706690, 7706693, 7706923, 7707098-7707136, 7707187, 7707190-7707194, 7707397-7707413, 7707899-7707901, 7707904, 7708080-7708112, 7711143-7711160, 7712070, 7712272-7712273, 7712312-7712313, 7712318-7712323, 7712397
340TYK2190.83361391694725593356410461792-10461795, 10463128-10463143, 10463602-10463643, 10463661, 10463671, 10463675, 10463681-10463692, 10463706-10463708, 10463745-10463773, 10464204-10464274, 10464305-10464322, 10464723-10464763, 10464794-10464838, 10464863, 10464866-10464873, 10464879-10464880, 10468459, 10468473, 10468495, 10468515, 10468563-10468579, 10468772, 10469968, 10469975, 10475374-10475380, 10475640-10475652, 10476270, 10476273-10476280, 10476352-10476399, 10476440, 10476449, 10476526, 10476530, 10488890-10489082
341DNM2190.9755070799846964261310829027-10829033, 10829078-10829079, 10897329, 10922940-10922964, 10923025-10923053
342LDLR190.94192799070848150258311215929-11215932, 11218181-11218183, 11221328-11221332, 11221427-11221444, 11222249, 11223977, 11223988-11224013, 11224022-11224025, 11224068-11224078, 11224232, 11224245, 11224252-11224257, 11224265, 11224296-11224310, 11224349-11224352, 11226772-11226781, 11226859-11226861, 11227602, 11233990, 11238692-11238725
343PRKCSH190.9936988027725310158711558341-11558343, 11558553-11558559
344MAN2B1190.90974967061924274303612758104-12758107, 12759071-12759093, 12766606-12766612, 12766627-12766646, 12767841-12767870, 12768260-12768360, 12768366-12768369, 12768889-12768891, 12768921-12768952, 12768955, 12769058, 12769063, 12769147-12769158, 12769263-12769272, 12769278-12769289, 12769298-12769299, 12769310, 12777459-12777468
345GCDH190.995444191343966131713002148, 13006840-13006843, 13008545
346CACNA1A190.91796303683021617752113318143-13318146, 13318188-13318225, 13318233-13318304, 13318312-13318350, 13318356-13318401, 13318428-13318505, 13318507, 13318522-13318588, 13318594-13318595, 13318608-13318629, 13318639-13318726, 13318737-13318741, 13318768-13318813, 13318850-13318855, 13319570-13319605, 13319611-13319616, 13319694-13319699, 13335528, 13335553-13335585, 13409390, 13409400-13409405, 13409892-13409905
347NOTCH3190.98420901521677110696615284970-15284977, 15285158-15285164, 15288812-15288816, 15288891, 15302248, 15302251, 15302556-15302566, 15302819, 15303074-15303083, 15303192-15303197, 15303225, 15311619-15311622, 15311627-15311650, 15311668-15311697
348JAK3190.84177777777778534337517940917-17941027, 17941325, 17941333-17941372, 17941413-17941414, 17942051-17942076, 17942086, 17942196, 17942502-17942505, 17949101-17949104, 17950352-17950370, 17950379-17950384, 17951089, 17952217, 17952225, 17952263, 17952475-17952478, 17953172-17953207, 17953212, 17953216, 17953235-17953271, 17953284, 17953300-17953331, 17953388, 17953391-17953408, 17953836-17953869, 17953911, 17953923-17953931, 17953961, 17953980-17953981, 17954232-17954235, 17954260-17954263, 17954601-17954630, 17954693-17954709, 17955075-17955100, 17955119-17955170, 17955190-17955192, 17955195
349SLC5A5190.9658385093167766193217983320, 17983369-17983376, 17983456-17983463, 17984968-17985012, 17985310-17985313
350IL12RB1190.92458521870287150198918180405-18180407, 18180442-18180444, 18180451, 18180455-18180457, 18186562, 18186571, 18186575, 18186616-18186640, 18187108-18187112, 18188326-18188340, 18188344-18188349, 18188352-18188356, 18188377-18188378, 18188408, 18188415-18188416, 18191753-18191779, 18191808-18191811, 18193074, 18194261, 18197570-18197606, 18197628-18197633
351COMP190.83245382585752381227418893986-18894003, 18895098-18895126, 18896552-18896554, 18896844-18896858, 18896926-18896927, 18896953-18896956, 18899064, 18899078-18899082, 18899219-18899254, 18899277-18899279, 18899292, 18899441-18899444, 18899454-18899499, 18899530-18899545, 18899648-18899671, 18900040-18900089, 18900765-18900789, 18900841-18900859, 18900904-18900923, 18901395-18901413, 18901659-18901662, 18901664-18901691, 18901700-18901703, 18901709-18901710, 18901725-18901727
352CEBPA190.4066852367688639107733792372-33792385, 33792410-33792419, 33792483-33792486, 33792521-33792533, 33792573-33792599, 33792651-33792684, 33792690-33792739, 33792751-33792800, 33792816-33792879, 33792887-33792988, 33793004-33793083, 33793114-33793126, 33793135-33793182, 33793191-33793320
353SCN1B190.955390334572493680735521727, 35521730-35521764
354MAG190.74481658692185480188135786357, 35786564-35786609, 35786789-35786800, 35790461-35790505, 35790527-35790541, 35790561-35790656, 35790693, 35790697-35790707, 35790726-35790753, 35791050-35791093, 35791102-35791109, 35791117-35791163, 35791189-35791194, 35791201-35791235, 35793402-35793408, 35793463-35793467, 35793480, 35793491-35793515, 35793559-35793565, 35793588, 35800790, 35800891-35800895, 35800918-35800931, 35801012-35801030
355COX6B1190.99616858237548126136149535
356TYROBP190.6312684365781712533936395508-36395510, 36398144-36398146, 36398350, 36398355-36398356, 36398361-36398362, 36398413-36398445, 36398470, 36398632-36398661, 36399076-36399087, 36399093-36399130
357SDHAF1190.971264367816091034836486177-36486185, 36486255
358WDR62190.9790026246719296457236572339-36572340, 36573966-36573972, 36579941-36579945, 36579976, 36580100, 36580106, 36581349-36581370, 36582175, 36583591, 36583666-36583668, 36584935, 36590329, 36591695-36591706, 36592579, 36594707, 36594710, 36594813, 36595677, 36595699-36595713, 36595743-36595748, 36595751-36595754, 36595870-36595877
359RYR1190.955745187537216691511738931418-38931449, 38931477-38931481, 38931485, 38937345-38937358, 38976658, 38987525-38987541, 39055611-39055618, 39055628-39055649, 39055703-39055704, 39055717-39055751, 39055756, 39055767-39055783, 39055790-39055994, 39056002-39056062, 39056071-39056077, 39056150-39056164, 39056186, 39056213-39056236, 39056242, 39056293, 39056310-39056359, 39075601-39075647, 39075681-39075712, 39075721-39075739, 39076582-39076603, 39077173-39077199, 39078005-39078006
360ACTN4190.9250730994152205273639138427-39138430, 39138482-39138521, 39138531-39138536, 39191735-39191753, 39214673-39214685, 39214866-39214874, 39215078, 39215089-39215125, 39215128, 39219788, 39219791-39219794, 39219946-39219976, 39219988-39219994, 39220026-39220057
361DLL3190.9859989229940826185739993527-39993530, 39993561-39993565, 39993607, 39993655-39993663, 39994883-39994889
362PRX190.9949840401276822438640903413-40903415, 40909683-40909698, 40909767-40909769
363TGFB1190.9207161125319793117341847851, 41847906-41847909, 41848104-41848113, 41850698, 41854235-41854263, 41854290, 41854304, 41854307, 41854314-41854316, 41854356-41854360, 41858893-41858903, 41858921, 41858925-41858949
364ATP1A3190.9853181076672154367842470861-42470869, 42470930-42470940, 42470952, 42470956, 42470962-42470963, 42471016-42471017, 42471019, 42471325, 42471368, 42480568-42480592
365BCAM190.957074721780681188745312382, 45312413-45312463, 45324035-45324063
366BLOC1S3190.99014778325123660945682984-45682989
367ERCC2190.90845378887429209228345867001-45867030, 45867075-45867080, 45867089-45867090, 45867093-45867125, 45867135-45867169, 45867298-45867316, 45867335, 45867345-45867347, 45867371-45867377, 45867493-45867496, 45867531-45867538, 45867575-45867589, 45867694-45867708, 45873416-45873417, 45873423, 45873456-45873483
368SIX5190.93018018018018155222046268894, 46270005-46270020, 46270142-46270144, 46270147-46270163, 46270194, 46271567-46271573, 46271681-46271687, 46271801-46271805, 46271845-46271856, 46271877-46271887, 46271933-46271980, 46272032, 46272058-46272083
369DMPK190.9566137566137682189046274268-46274306, 46281415-46281434, 46281775, 46281856-46281859, 46285580-46285582, 46285590-46285595, 46285602-46285610
370FKRP190.88709677419355168148847259027-47259030, 47259146-47259155, 47259299-47259301, 47259364-47259365, 47259375-47259409, 47259480-47259506, 47259510, 47259623-47259644, 47259668-47259703, 47259756-47259766, 47260033-47260040, 47260171-47260179
371DBP190.5981595092024539397849134094-49134136, 49134180-49134200, 49138837-49138897, 49138908-49138936, 49138948-49138968, 49138980-49138981, 49138998-49139015, 49139032-49139034, 49139040, 49139043-49139058, 49139064-49139108, 49139119-49139193, 49139226-49139228, 49139242-49139247, 49140177-49140225
372BCAT2190.9898218829516512117949302971, 49303088-49303095, 49303477-49303478, 49303481
373GYS1190.9814814814814841221449494618-49494624, 49496303-49496335, 49496359
374MED25190.95053475935829111224450321651, 50321655-50321664, 50321670, 50333433, 50335384-50335389, 50335406-50335414, 50338792-50338798, 50338831-50338851, 50339042-50339045, 50339143-50339186, 50339589-50339595
375MYH14190.96350842742595223611150713709-50713715, 50726570, 50728859-50728869, 50747515-50747525, 50752993-50752997, 50762418-50762439, 50764732, 50764746, 50764799-50764800, 50764803-50764823, 50764850-50764892, 50766581-50766600, 50766620-50766659, 50770205-50770236, 50794144-50794146, 50795577-50795579
376KCNC3190.58751099384345938227450823503-50823570, 50823576-50823579, 50823589-50823590, 50826234-50826240, 50826284-50826292, 50826295-50826302, 50826339-50826461, 50826508-50826510, 50826624, 50826627-50826645, 50826652, 50826708, 50826856, 50831489-50831566, 50831572, 50831575-50831580, 50831611, 50831641-50831648, 50831653, 50831659-50831816, 50831839-50831844, 50831848-50831875, 50831887-50831898, 50831912-50832017, 50832036-50832066, 50832085-50832339
377KLK4190.986928104575161076551412639-51412648
378NLRP12190.96610169491525108318654301529-54301532, 54301657-54301659, 54304512-54304520, 54304568-54304571, 54304584, 54304616, 54304620-54304623, 54307281, 54307374, 54312841, 54313566, 54313572-54313595, 54313618-54313620, 54313623-54313632, 54313637-54313640, 54313661-54313663, 54313666-54313669, 54313990, 54314063-54314088, 54314344, 54314425-54314426
379PRKCG190.87249283667622267209454401245-54401264, 54401733-54401739, 54401767-54401793, 54401836, 54401847-54401882, 54409590, 54409601-54409661, 54409669-54409675, 54409965-54410018, 54410044, 54410063-54410110, 54410133-54410136
380PRPF31190.342987150054621689-54621702, 54621718, 54621771, 54621775, 54621790-54621793, 54621957, 54621982-54621988, 54625239-54625322, 54625936, 54625939, 54625961-54625962, 54626833-54626857, 54626883, 54626914, 54626926-54626927, 54626938, 54627128-54627214, 54627246, 54627276-54627297, 54627878, 54627883, 54627888-54627892, 54627912-54627919, 54627926-54627971, 54627982-54628016, 54629914-54629992, 54631448-54631575, 54631680-54631752, 54632432-54632560, 54632647-54632745, 54634738-54634863
381TSEN34190.981779206859591793354695359-54695375
382NLRP7190.631021194605011149311455445074-55445078, 55449412, 55449416-55449437, 55449442-55449448, 55449547-55449552, 55449559, 55449584-55449588, 55450287, 55450301-55450307, 55450318, 55450329-55450330, 55450333-55450388, 55450416, 55450437-55450496, 55450518-55450556, 55450610-55450611, 55450614-55450636, 55450642, 55450676, 55450712-55450754, 55450770-55450772, 55450816-55450858, 55450880-55450956, 55450989, 55450992, 55450997, 55451003, 55451020-55451117, 55451137-55451174, 55451203-55451252, 55451272-55451274, 55451283, 55451289, 55451298-55451340, 55451377-55451380, 55451388, 55451399-55451454, 55451462, 55451465, 55451492-55451523, 55451532-55451682, 55451705-55451728, 55451737-55451742, 55451772-55451778, 55451787-55451803, 55451821-55451834, 55452299-55452300, 55452325-55452326, 55452337-55452356, 55452803-55452863, 55452880-55452882, 55452901-55452908, 55452947-55453004, 55453036-55453071
383TNNT1190.7287705956907521478955644299-55644328, 55645255-55645295, 55645466-55645479, 55645485-55645520, 55648476-55648477, 55648504, 55648566-55648567, 55648570-55648576, 55649329-55649337, 55649433-55649442, 55652261-55652267, 55652273-55652319, 55653257-55653259, 55657825-55657829
384TNNI3190.919540229885064960955665404-55665410, 55665498, 55665557-55665568, 55667672-55667700
385TPO20.857601713062139928021480862-1480893, 1480911-1480912, 1481014-1481042, 1481060-1481087, 1481101-1481114, 1481152, 1481163-1481168, 1481172-1481175, 1481178-1481179, 1481210-1481224, 1481267-1481274, 1481294-1481329, 1481369, 1481372, 1488603, 1497643, 1497688-1497691, 1497703, 1520655-1520748, 1544366-1544369, 1544382, 1544401-1544424, 1544431-1544495, 1546193-1546216, 1546245
386KLF1120.9727095516569242153910183844-10183885
387MYCN20.9362007168458889139516082302-16082320, 16082387-16082391, 16082434-16082453, 16082456, 16082634-16082638, 16082647-16082649, 16082653-16082659, 16082721-16082733, 16082870-16082878, 16082906, 16082957-16082962
388MATN320.998631074606432146120212181, 20212360
389APOB20.9999269646508911369221266803
390OTOF20.87604270937604743599426695400, 26695403-26695406, 26696427-26696429, 26696872-26696905, 26696917-26696924, 26696964-26696965, 26697393-26697452, 26697479-26697485, 26698341-26698343, 26698360-26698361, 26698791-26698799, 26698851-26698873, 26699004-26699006, 26699022, 26699030-26699045, 26699142-26699145, 26699759-26699761, 26699769-26699824, 26699849-26699911, 26700047-26700076, 26700102-26700118, 26700155-26700156, 26700357-26700374, 26700517-26700525, 26700541-26700545, 26700549-26700550, 26700578-26700596, 26700608-26700617, 26702166-26702200, 26702341-26702380, 26702437-26702446, 26702474-26702478, 26703102-26703126, 26703167-26703179, 26703669-26703675, 26703679-26703686, 26703738-26703758, 26705274-26705283, 26705324, 26705357-26705370, 26705379-26705385, 26705404-26705453, 26707342-26707348, 26712079-26712096, 26712142-26712144, 26712561-26712564, 26712605-26712608, 26739364-26739406, 26741900-26741903
391C2orf7120.992242048099330386729293759-29293765, 29294173, 29295446-29295467
392XDH20.999000499750124400231595189-31595192
393SPAST20.94273365748244106185132289014-32289015, 32289064, 32289081-32289085, 32289090-32289094, 32289113, 32289117-32289147, 32289168-32289174, 32289184-32289223, 32289302-32289315
394CYP1B120.82843137254902280163238301489-38301509, 38301549-38301554, 38301771-38301772, 38301865-38301867, 38301888-38301892, 38301895-38301896, 38301933, 38301944-38301946, 38301974-38302005, 38302018, 38302021-38302040, 38302049-38302057, 38302065-38302071, 38302147-38302153, 38302197-38302202, 38302219-38302227, 38302253-38302277, 38302304-38302354, 38302408-38302475, 38302516, 38302518
395SOS120.9940029985007524400239281929, 39347523-39347545
396ABCG820.94708209693373107202244079533-44079534, 44079989-44079991, 44099115-44099119, 44099135, 44099201, 44099232-44099238, 44099362-44099395, 44099425-44099445, 44100952, 44100974-44100984, 44102365-44102385
397LRPPRC20.999761051373951418544222954
398EPCAM20.956613756613764194547596645, 47596679-47596718
399MSH220.9953654188948313280547630365-47630373, 47630384, 47630388, 47630401, 47630405
400MSH620.96473181484203144408348010459-48010495, 48010517-48010586, 48010596-48010632
401LHCGR20.9890476190476223210048982750-48982772
402ATP6V1B120.998054474708173154271163085, 71163097, 71192150
403MCEE20.99811676082863153171351588
404DYSF20.9880503144654176636071797787-71797801, 71801328-71801361, 71825857-71825860, 71847686-71847687, 71847695-71847710, 71847720, 71847724-71847727
405SPR20.954198473282443678673114634-73114640, 73114729-73114739, 73114787-73114791, 73114844-73114856
406ALMS120.99912028150992111250473613032-73613034, 73827996-73828002, 73828342
407MOGS20.9844868735083539251474688820-74688822, 74689010, 74689275-74689276, 74691731, 74692124-74692125, 74692234-74692242, 74692261, 74692267, 74692349-74692367
408GGCX20.9938515590689514227785788108, 85788521, 85788526-85788537
409REEP120.98844884488449760686564619, 86564622-86564627
410EIF2AK320.9779170396896474335188926554-88926563, 88926599-88926603, 88926608, 88926727-88926738, 88926747-88926792
411ZAP7020.9908602150537617186098340583-98340584, 98340615-98340621, 98340630, 98340750-98340756
412RANBP220.960516795865633829675109345588-109345589, 109347930, 109357110-109357116, 109365376-109365401, 109365415-109365463, 109367984-109367988, 109368046-109368052, 109368074-109368110, 109368334-109368362, 109368430-109368450, 109370357-109370375, 109370398, 109371632-109371633, 109374949-109374995, 109378557-109378567, 109378650-109378651, 109382787-109382808, 109383315-109383360, 109383675, 109383957-109383986, 109384208-109384224
413MERTK20.99466666666667163000112656313-112656316, 112656324, 112656327-112656334, 112656349-112656351
414GLI220.933627389203953164761121555023-121555027, 121708853-121708860, 121709010-121709021, 121712937-121712945, 121728124-121728163, 121729627-121729639, 121745833-121745841, 121745985-121745996, 121746094-121746097, 121746140-121746170, 121746197, 121746204-121746216, 121746373-121746388, 121746447-121746458, 121746504-121746520, 121746529-121746531, 121746569-121746587, 121746595-121746602, 121746684-121746696, 121746838-121746839, 121747023-121747025, 121747076, 121747081-121747082, 121747165-121747210, 121747467-121747473, 121747540-121747545, 121747592, 121747662, 121747668-121747669
415BIN120.98372615039282291782127808053-127808059, 127808730, 127811574-127811585, 127834274-127834282
416PROC20.93578643578644891386128178942-128178946, 128180493-128180511, 128180663-128180707, 128180951-128180952, 128184695-128184711, 128184779
417CFC120.67410714285714219672131279558, 131279616, 131280363-131280403, 131280444-131280466, 131280473-131280477, 131280742-131280744, 131280790-131280829, 131280835-131280851, 131285305-131285338, 131285359-131285412
418LCT20.99792531120332125784136558328-136558329, 136566522-136566531
419ZEB220.9989026063100143645145274899, 145274902-145274904
420NEB20.999198958646241619974152432786, 152432792, 152432823-152432828, 152466443-152466450
421SCN2A20.9990029910269266018166201174-166201179
422GALNT320.9994742376445811902166627178
423SCN9A20.9993259184361345934167060575-167060578
424ITGA620.9978632478632573276173292563-173292569
425CHN120.98913043478261151380175869622-175869636
426HOXD1320.98546511627907151032176957672-176957680, 176957711-176957713, 176957786-176957788
427TTN20.9993516080121365100248179510662, 179542405-179542463, 179644128-179644132
428CERKL20.96998123827392481599182438548-182438553, 182468620-182468631, 182468643-182468665, 182468703-182468709
429COL3A120.9993183367416534401189850420, 189871663-189871664
430HSPD120.9994192799070811722198351838
431BMPR220.99454603785691173117203242251-203242252, 203242255-203242258, 203329532, 203332322, 203332330, 203379660-203379664, 203384914-203384916
432SMARCAL120.99441535776614162865217297455-217297466, 217340064-217340067
433PNKD20.98877374784111131158219206257-219206262, 219209558-219209564
434WNT10A20.98325358851675211254219745720-219745723, 219757608, 219757680, 219757769-219757780, 219757785, 219757876-219757877
435DES20.96815286624204451413220283245-220283262, 220283400-220283403, 220283650-220283652, 220283705-220283724
436OBSL120.962748198910562125691220416466-220416468, 220416834-220416840, 220417294-220417295, 220435375, 220435528, 220435558-220435575, 220435640-220435697, 220435707-220435761, 220435770-220435780, 220435832-220435833, 220435839, 220435842-220435844, 220435872-220435885, 220435913-220435948
437PAX320.9993412384716711518223163267
438CHRND20.98777348777349191554233390930, 233390951-233390958, 233394688, 233396116-233396120, 233398690-233398693
439COL6A320.9996853366897439534238244864-238244866
440AGXT20.98473282442748181179241808403, 241808408-241808420, 241808705-241808708
441D2HGDH20.94955300127714791566242674645-242674649, 242690780, 242695415-242695429, 242707125-242707131, 242707163, 242707208-242707225, 242707289-242707292, 242707308-242707335
442C20orf54200.98936170212766151410741852-741853, 741861-741863, 744530-744539
443AVP200.69898989898991494953063315-3063320, 3063334-3063341, 3063346-3063364, 3063396-3063441, 3063443-3063448, 3063631-3063634, 3063653, 3063715-3063763, 3063777-3063786
444JAG1200.998359310910586365710653614-10653619
445THBD200.93576388888889111172823029209-23029218, 23029307-23029309, 23029314-23029335, 23029383-23029386, 23029458-23029464, 23029587-23029612, 23029670-23029698, 23029793-23029795, 23029893-23029899
446SNTA1200.85375494071146222151831998058-31998075, 32000159-32000160, 32000171, 32000219, 32000222-32000232, 32000408-32000446, 32031154-32031185, 32031212-32031236, 32031254-32031268, 32031311-32031352, 32031376-32031411
447GDF5200.999335989375831150634025122
448ADA200.9798534798534822109243257749-43257770
449CTSA200.995991983967946149744520238-44520243
450SLC2A10200.997539975399754162645338376-45338379
451SALL4200.999683744465531316250418824
452GNAS200.99457994579946473857415190-57415193
453GNAS200.9961464354527912311457429446-57429448, 57429479-57429480, 57429488, 57429491, 57429647, 57429755-57429758
454COL9A3200.78296836982968446205561448417-61448494, 61448926-61448987, 61449870-61449905, 61450579-61450589, 61450594, 61452561-61452568, 61453109-61453110, 61453161-61453162, 61453943-61453962, 61455815-61455821, 61455850-61455853, 61456320-61456373, 61457180-61457216, 61457560-61457603, 61458139-61458161, 61459316, 61460323-61460327, 61461874-61461878, 61461886-61461927, 61464415-61464416, 61468568, 61468571
455CHRNA4200.14118895966031618188461978090-61978109, 61978124, 61978146-61978156, 61978190-61978215, 61981005-61981088, 61981098, 61981101-61981207, 61981209-61981227, 61981234-61981296, 61981302-61981500, 61981506-61981796, 61981816-61981864, 61981887-61982018, 61982029, 61982033-61982094, 61982101-61982116, 61982123-61982124, 61982136-61982141, 61982145-61982214, 61982220, 61982241-61982262, 61982290, 61982296, 61982302, 61982307-61982309, 61982313-61982315, 61982337-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
456KCNQ2200.334860633829711742261962037997-62038026, 62038037-62038089, 62038093-62038098, 62038116-62038157, 62038169-62038216, 62038226-62038398, 62038406-62038416, 62038442-62038638, 62038656-62038696, 62038718-62038720, 62038728, 62039766-62039796, 62039802-62039848, 62039859-62039889, 62044815-62044839, 62044855-62044867, 62044895, 62046267, 62046271-62046275, 62046315, 62046319-62046337, 62046425-62046426, 62046434, 62059720-62059779, 62059785-62059788, 62065190-62065196, 62069978-62069983, 62069988-62069990, 62069993, 62070026-62070029, 62070951-62071047, 62073759-62073871, 62076012-62076110, 62076126-62076187, 62076591-62076717, 62078100, 62078111-62078190, 62103521-62103816
457SOX18200.112554112554111025115562679519-62679570, 62679579-62679619, 62679637-62679662, 62679683-62679718, 62679730-62679762, 62679768, 62679810-62679860, 62679866-62679899, 62679908-62680213, 62680229-62680315, 62680512-62680869
458APP210.996541288370088231327542903-27542908, 27542914-27542915
459IFNGR2210.9289940828402472101434775850-34775918, 34793832-34793834
460RCAN1210.8484848484848511575935987080-35987107, 35987149-35987184, 35987218-35987251, 35987269-35987285
461CLDN14210.9751872037833282-37833284, 37833606-37833607, 37833819-37833821, 37833873-37833874, 37833984-37833991
462TMPRSS3210.9868131868131918136543795874, 43805524-43805540
463CBS210.93417874396135109165644474011-44474028, 44476940-44476941, 44476957-44476964, 44478980, 44479060-44479077, 44479336-44479341, 44479357-44479361, 44479371, 44480630-44480656, 44482445, 44485336-44485347, 44486356, 44488650-44488654, 44492148, 44492160, 44492197-44492198
464AIRE210.3998778998779983163845705890-45705939, 45705945-45706004, 45706442-45706445, 45706451-45706483, 45706504, 45706507-45706509, 45706581-45706597, 45706611-45706614, 45706933, 45706951, 45706964-45707002, 45707411-45707451, 45707463-45707474, 45708228-45708236, 45708253-45708296, 45708312-45708318, 45709540-45709541, 45709573-45709614, 45709630-45709666, 45709673-45709685, 45709871-45709902, 45709940, 45710989-45710990, 45711000-45711026, 45711081-45711084, 45712185-45712188, 45712195-45712222, 45712234-45712241, 45712245-45712248, 45712876-45713007, 45713018, 45713030-45713058, 45713672-45713691, 45713696, 45713701-45713705, 45713716-45713744, 45713754-45713762, 45713766-45713769, 45713781-45713786, 45714284-45714317, 45714324-45714386, 45716266-45716328, 45717539-45717554, 45717570-45717610
465ITGB2210.89393939393939245231046308608-46308630, 46308636-46308703, 46308714, 46308739, 46308797-46308798, 46308809-46308810, 46309191-46309201, 46309342-46309347, 46309351-46309361, 46309404-46309410, 46310029-46310062, 46310111, 46311735-46311744, 46311747, 46311781, 46311784, 46311817-46311853, 46311901-46311911, 46313408, 46320375-46320390
466COL18A1210.432478632478632988526546875492-46875530, 46875559-46875564, 46875653-46875673, 46875744-46875745, 46875750-46875773, 46875799-46875800, 46875804-46875809, 46875813-46875842, 46875861-46875918, 46875941-46875969, 46876059-46876080, 46876145-46876146, 46876197-46876228, 46876243-46876274, 46876299-46876322, 46876357-46876395, 46876405-46876439, 46876466, 46876502-46876510, 46876545-46876590, 46876615-46876621, 46876626-46876627, 46876641-46876694, 46876703-46876722, 46876747, 46876761-46876765, 46876787-46876795, 46888174-46888226, 46888232-46888265, 46888329-46888330, 46888341-46888345, 46888406-46888438, 46888482-46888548, 46888585-46888613, 46888628-46888649, 46893863-46893888, 46895398-46895399, 46895404-46895408, 46895413, 46895417, 46896324-46896326, 46896338-46896366, 46897756-46897757, 46897761, 46899852-46899866, 46899989, 46900060, 46900416, 46900424, 46900614-46900648, 46900668-46900696, 46900724, 46900730, 46906775-46906898, 46907361-46907386, 46907392-46907423, 46908352, 46909400-46909418, 46909432-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911181, 46911188-46911228, 46912449-46912469, 46912601-46912611, 46913077-46913139, 46913415-46913426, 46913436-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917527, 46917530-46917532, 46917551-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929279-46929280, 46929285-46929322, 46929334-46929472, 46929492-46929514, 46929978-46930082, 46930102-46930118, 46930129, 46930142-46930175, 46931025-46931091, 46931109, 46932132, 46932137-46932139, 46932149-46932312
467COL6A1210.567865241334631334308747401765-47401861, 47402548-47402677, 47404183-47404377, 47406440-47406479, 47406487-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409051, 47409522-47409552, 47409666-47409692, 47410172-47410198, 47410292-47410334, 47410691-47410740, 47410909-47410955, 47411924-47411951, 47411974-47411983, 47412078, 47412082-47412114, 47412291-47412310, 47412662-47412666, 47414087, 47414134-47414137, 47417335, 47417338-47417354, 47417632-47417675, 47418035, 47418066, 47418083-47418085, 47418312, 47418845-47418873, 47419082-47419097, 47419577-47419597, 47420673-47420674, 47421954-47421967, 47422209, 47422531-47422535, 47423706, 47423762-47423766
468COL6A2210.497058823529411539306047531414-47531463, 47531478-47531505, 47531893-47531898, 47531924-47531939, 47531946, 47531951, 47531956, 47531961, 47531989-47532002, 47532041-47532043, 47532054-47532057, 47532131-47532138, 47532166-47532183, 47532210-47532211, 47532255-47532262, 47532304, 47532307, 47532310, 47532313-47532315, 47532320-47532321, 47533965, 47535929-47535959, 47536296-47536317, 47536565-47536580, 47536591, 47536686-47536728, 47537314-47537367, 47537790-47537795, 47537809-47537831, 47538528-47538541, 47538547-47538590, 47538956-47538994, 47539000, 47539003-47539005, 47539021-47539033, 47539702-47539713, 47539742-47539745, 47539756-47539764, 47540429-47540470, 47540476-47540491, 47540976, 47540980-47541037, 47541470-47541488, 47541500-47541532, 47542022-47542038, 47542053-47542054, 47542058-47542059, 47542066, 47542070, 47542410-47542418, 47542430-47542445, 47542789-47542790, 47542808-47542851, 47544599-47544604, 47544608-47544609, 47544818, 47545180-47545204, 47545379-47545394, 47545423-47545426, 47545453-47545466, 47545474, 47545709-47545731, 47545749-47545770, 47545866-47545869, 47545872, 47545885-47545974, 47545983, 47546039, 47546063-47546079, 47546097-47546150, 47546431, 47546437-47546446, 47546450-47546455, 47551868-47551920, 47551954-47552090, 47552111-47552134, 47552157-47552208, 47552215-47552223, 47552232-47552340, 47552348-47552383, 47552404-47552430, 47552442-47552466
469COL6A2210.1783625730994228134247552183-47552208, 47552215-47552223, 47552232-47552340, 47552348-47552383, 47552404-47552430, 47552442-47552512, 47552522-47552524
470FTCD210.0799507995079951496162647556901-47556977, 47557176-47557220, 47557223, 47557227-47557237, 47558422-47558442, 47558458-47558487, 47558493, 47558496, 47558512-47558554, 47558557-47558559, 47558794-47558813, 47558828-47558833, 47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571538, 47571549-47571550, 47571559-47571651, 47571806-47571894, 47572821-47572877, 47572884-47572949, 47574063-47574246, 47575384-47575437
471PCNT210.99140944960543861001147744168-47744183, 47766820, 47766851, 47766907, 47775480-47775482, 47786597-47786605, 47786619-47786622, 47786625, 47786627-47786661, 47787015-47787016, 47831452-47831460, 47836688, 47841945-47841946, 47847587
472PRODH220.91125901275652160180318901014-18901015, 18908859-18908861, 18908902, 18923528-18923609, 18923628-18923639, 18923647-18923653, 18923673, 18923691, 18923701, 18923718-18923753, 18923781, 18923788-18923800
473GP1BB22062162119711093-19711102, 19711377-19711987
474TBX1220.4885752688172761148819747174-19747200, 19748428-19748599, 19748608-19748705, 19748732-19748733, 19748748, 19751732, 19753300, 19753332, 19753425-19753433, 19753443-19753525, 19753912-19753973, 19753986-19754075, 19754082-19754083, 19754091, 19754097-19754126, 19754148-19754176, 19754184-19754212, 19754255-19754328, 19754342-19754390
475UPB1220.993939393939397115524906771-24906777
476CHEK2220.94321408290744100176129083885-29083917, 29083947-29083965, 29085135-29085171, 29090020-29090021, 29090054, 29091837-29091844
477NF2220.9776286353467640178829999994-30000001, 30000054-30000085
478TCN2220.999221183800621128431022501
479TIMP3220.98899371069182763633198051-33198057
480MYH9220.9836817950025596588336688085-36688117, 36689375-36689388, 36691562-36691563, 36691677-36691680, 36694974-36694978, 36695071-36695075, 36698678, 36698701-36698709, 36700068-36700080, 36712686-36712695
481TRIOBP220.97548605240913174709838111847, 38119891-38119897, 38120006-38120012, 38120031-38120068, 38120300-38120306, 38120447-38120453, 38120696, 38120794-38120813, 38121849-38121851, 38121855, 38122023-38122026, 38122108, 38122111, 38122115-38122128, 38122159-38122160, 38122189, 38122194, 38122318, 38122338, 38122449-38122465, 38122492-38122507, 38129395-38129396, 38129400-38129401, 38129411-38129418, 38130526, 38130669-38130674, 38130773, 38130940-38130941, 38165160
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576GRM650.96583143507973902634178408692, 178413438-178413468, 178421579-178421602, 178421665-178421698
577SQSTM150.916855631141351101323179247937-179247954, 179247992-179248021, 179248038-179248039, 179248058-179248088, 179248102-179248112, 179248124-179248141
578FLT450.2942326490713628884092180043387-180043389, 180043413-180043472, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047288, 180047296-180047308, 180047609-180047667, 180047680-180047684, 180047708-180047715, 180047884-180047949, 180047957-180048007, 180048111, 180048114-180048129, 180048132, 180048149-180048197, 180048210-180048252, 180048542-180048767, 180048785-180048792, 180048815-180048904, 180049743-180049762, 180049782-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057260, 180057273-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
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580TUBB2B60.803437967115126313383225002-3225004, 3225007, 3225026, 3225046-3225053, 3225133-3225164, 3225179, 3225182, 3225189, 3225200, 3225203, 3225262-3225343, 3225374, 3225378, 3225412, 3225442, 3225445, 3225466, 3225477-3225503, 3225537, 3225573-3225575, 3225580-3225583, 3225678, 3225711-3225739, 3226035-3226045, 3226416-3226421, 3226433, 3226490, 3226835, 3226841, 3226866-3226872, 3227732-3227763
581DTNBP160.997159090909093105615663098-15663100
582ATXN160.9787581699346452244816327853-16327856, 16327858-16327873, 16327876, 16327879-16327903, 16327907-16327909, 16327916-16327918
583NHLRC160.9907407407407411118818121914-18121920, 18122526, 18122618, 18122803-18122804
584ALDH5A160.994535519125689164724495366, 24495398-24495403, 24495409, 24495414
585HLA-H60.885333333333338675029855833-29855874, 29856312-29856314, 29856318-29856319, 29856347, 29856389, 29856402, 29856480-29856498, 29856630-29856646
586TNXB60.77449455676516435192931976896-31976929, 31977068-31977116, 31977190-31977192, 31977368-31977395, 31977525-31977555, 31977605-31977649, 31977751-31977795, 31977858, 31977994-31978001, 31978333-31978356, 31978498-31978533, 31978782-31978788, 31978945-31978983, 31979432-31979460, 31979476-31979482, 31979533, 31979559-31979560, 31979568, 31979960-31980003, 31980074
587CYP21A260.9408602150537688148832006211-32006220, 32006243, 32006255, 32006317, 32006337, 32006886, 32008279-32008291, 32008341, 32008351-32008355, 32008672, 32008675, 32008712-32008761, 32008774, 32008825
588TNXB60.965826066462414351272932009648-32009664, 32009810-32009813, 32009845-32009857, 32009922-32009930, 32010103-32010130, 32010259-32010303, 32010339-32010381, 32010526, 32010592, 32010728-32010735, 32011067-32011091, 32011214-32011222, 32011232-32011267, 32011311-32011322, 32011561, 32011641-32011669, 32011796, 32012274, 32012281, 32012289, 32012304-32012336, 32012385-32012387, 32012410-32012450, 32012814-32012820, 32012896, 32014087, 32023644-32023650, 32023659, 32023679, 32025997-32026000, 32026028-32026030, 32026067-32026073, 32026077, 32026081, 32026107, 32029182-32029188, 32029203-32029206, 32029216-32029224, 32029226, 32029344-32029356, 32029415, 32032638-32032640
589HLA-DQA160.954427083333333576832609952, 32609969, 32609974, 32610002, 32610009, 32610387-32610406, 32610532-32610541
590HLA-DQB160.76463104325718578632629124-32629173, 32629224-32629234, 32630025, 32632575-32632653, 32632678-32632718, 32632724, 32632744-32632745
591SYNGAP160.9833829365079467403233388042-33388108
592FANCE60.9056486654252152161135420331-35420338, 35420364-35420411, 35420441-35420462, 35420469-35420517, 35420541-35420565
593TULP160.998158379373853162935479574, 35479582-35479583
594LHFPL560.99848484848485166035782356
595MOCS160.79696493982208388191139893422-39893502, 39893512-39893521, 39893543-39893589, 39895068-39895317
596PRPH260.9692603266090332104142672150-42672169, 42672239-42672250
597PEX660.9894665307509331294342935242, 42935247, 42936652, 42937461-42937463, 42946367-42946370, 42946468-42946480, 42946529-42946536
598RSPH960.935018050541525483143612847-43612853, 43612873-43612913, 43612966-43612971
599RUNX260.9712643678160945156645390446-45390448, 45390454, 45390467-45390469, 45390487-45390489, 45390494, 45390503-45390505, 45390510-45390535, 45390547, 45390550, 45480027-45480029
600MUT60.9955614735907710225349409561, 49409604-49409612
601RIMS160.9954715495176223507972892076, 72892347-72892367, 72892794
602SLC17A560.997311827956994148874345128-74345131
603MYO660.999740798341111385876599858
604PDSS260.9958333333333351200107780260-107780264
605OSTM160.97412935323383261005108395739-108395746, 108395784-108395786, 108395832-108395846
606COL10A160.998531571218832043116442333-116442335
607GJA160.9939077458659771149121768922-121768928
608LAMA260.9998931966250119363129704314
609ENPP160.98164146868251512778132129184-132129191, 132129248-132129251, 132129256-132129259, 132129334-132129368
610EYA460.96875601920133769256-133769290, 133777694-133777711, 133777737-133777743
611AHI160.9997215260373213591135778830
612EPM2A60.995983935742974996146056471, 146056474-146056476
613IYD60.998850574712641870150690322
614SYNE160.99965901341214926394152583187-152583191, 152599342-152599343, 152690201-152690202
615TBP60.96960784313725311020170871014-170871016, 170871034, 170871043, 170871055-170871070, 170871073-170871079, 170871082, 170871118, 170871122
616LFNG70.3421052631578975011402559496-2559918, 2564351-2564365, 2564853-2564878, 2564900-2564912, 2564927-2564928, 2565048-2565082, 2565090-2565118, 2565155-2565182, 2565337, 2565381, 2565387-2565393, 2565878-2565893, 2565897, 2565957-2566036, 2566482-2566509, 2566783-2566798, 2566814-2566842
617PMS270.9598300502124410425896013046-6013052, 6026775, 6026871-6026888, 6026953, 6026959-6026963, 6026976-6027020, 6027153-6027168, 6027242, 6029471-6029478, 6029491, 6048639
618TWIST170.5402298850574728060919156562-19156567, 19156571-19156572, 19156588, 19156596-19156604, 19156638-19156687, 19156722-19156769, 19156775-19156781, 19156788-19156944
619HOXA170.991071428571439100827135317-27135325
620HOXA1370.70008568980291350116727239204-27239207, 27239256-27239270, 27239273-27239277, 27239295-27239550, 27239560-27239609, 27239613-27239631, 27239636
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622GCK70.81441827266238260140144184777-44184778, 44185180-44185185, 44185220, 44185265, 44186062-44186095, 44186111-44186140, 44186217, 44187304-44187315, 44187384-44187390, 44187421, 44190567-44190573, 44190634-44190672, 44191870-44191903, 44192936-44192979, 44193022-44193062
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624EGFR70.9865125240847849363355086983-55086996, 55087021-55087050, 55220298-55220301, 55220304
625GUSB70.9841513292433531195665435292-65435295, 65445322, 65445325-65445326, 65446978-65446994, 65446999, 65447002, 65447142-65447146
626ASL70.36415770609319887139565546825-65546831, 65546889-65546929, 65547355-65547363, 65547404-65547430, 65547867-65547906, 65548064-65548133, 65548150-65548161, 65551572-65551598, 65551629-65551633, 65551637-65551644, 65551731-65551808, 65552321-65552339, 65552354-65552373, 65552740-65552768, 65553794-65553798, 65553821-65553856, 65553862, 65553868-65553893, 65554078-65554119, 65554137-65554143, 65554154-65554162, 65554263-65554308, 65554610-65554682, 65556993-65557009, 65557014, 65557017, 65557040-65557069, 65557544-65557550, 65557561-65557650, 65557755-65557770, 65557784-65557864, 65557893-65557899
627KCTD770.8793103448275910587066094052-66094073, 66094099-66094118, 66094133-66094195
628NCF170.892121212121218982572639817-72639819, 72639957-72639989, 72640078, 72645874-72645896, 72648722-72648750
629ELN70.93287356321839146217573442518-73442599, 73456993-73457011, 73462866, 73462875-73462877, 73466146, 73466154, 73466273-73466301, 73474709-73474712, 73477693-73477698
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632HSPB170.949838187702273161875932059-75932076, 75932221-75932223, 75932366, 75932382, 75932391, 75933432-75933438
633PEX170.998442367601256385292140258-92140259, 92140310-92140313
634TFR270.9975062344139762406100238612-100238617
635RELN70.9999036330346110377103205998
636CFTR70.974566734188611134443117188713-117188753, 117188760-117188800, 117188847-117188877
637AASS70.9971233369291682781121769522-121769529
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639FLNC70.969430178527762508178128470692-128470695, 128470713-128470755, 128470783-128470801, 128470807-128470808, 128470811, 128470827-128470860, 128470873, 128470876, 128470903, 128470906-128470911, 128470916-128470930, 128470953, 128470957-128470967, 128470981-128471024, 128475626, 128477220-128477221, 128477265-128477286, 128477289-128477292, 128477297, 128478338, 128478706, 128478805-128478826, 128480089-128480090, 128480094, 128480100-128480101, 128480109, 128482850, 128482853-128482856, 128483615, 128497185
640ATP6V0A470.99603646452636102523138394389-138394393, 138394439-138394443
641BRAF70.9960886571056192301140624404-140624412
642PRSS170.84139784946237118744142458483-142458529, 142459676-142459697, 142459863-142459878, 142460335, 142460366-142460397
643KCNH270.949712643678161753480150655194-150655214, 150655374-150655380, 150655542-150655544, 150655547, 150671857-150671889, 150671898-150671931, 150674926-150675001
644PRKAG270.9988304093567321710151267306-151267307
645SHH70.492440604751627051389155595594-155595836, 155595847-155595882, 155595892-155595896, 155595908-155595949, 155595970-155595983, 155595993-155595994, 155596002, 155596007-155596047, 155596052-155596053, 155596064, 155596074-155596249, 155596258-155596263, 155596287-155596306, 155596311-155596313, 155596316-155596317, 155596360-155596391, 155599032-155599034, 155599038-155599043, 155599083-155599126, 155599148, 155604771-155604794, 155604816
646MNX170.428689883913766891206156798214-156798217, 156798255, 156798263-156798271, 156798277-156798281, 156798284, 156798299, 156798394-156798413, 156798425-156798481, 156798542-156798560, 156799190, 156799260-156799294, 156802394-156802410, 156802424-156802425, 156802506-156802552, 156802575-156803044
647CLN880.9930313588850268611719512-1719517
648MCPH180.99720893141946725086264204-6264210
649GATA480.82919488337096227132911565874-11565928, 11565995-11566030, 11566094-11566098, 11566115, 11566119, 11566124-11566127, 11566162-11566243, 11566252, 11566258-11566269, 11566335, 11566347-11566359, 11566395-11566410
650TUSC380.997134670487113104715398027-15398029
651CHRNA280.997484276729564159027321221-27321222, 27321230, 27321381
652ANK180.9977168949771713569441530247-41530248, 41553926-41553928, 41583421-41583428
653THAP180.98909657320872764242693183, 42693188-42693190, 42693246, 42693299, 42694435
654HGSNAT80.94601677148847103190842995655-42995757
655CHD780.9971091839003826899461734370-61734379, 61734583-61734598
656TTPA80.99641577060932383763998511-63998513
657NBN80.999558498896251226590990546
658GDF680.9773391812865531136897157406-97157424, 97157527, 97157564-97157574
659KIAA019680.9997126436781613480126096088
660KCNQ380.9980908743795352619133492569-133492573
661SLURP180.028846153846154303312143822561-143822685, 143823221-143823340, 143823746-143823803
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701EHMT190.828842699512456673897140513481-140513501, 140605419-140605476, 140611078-140611634, 140671270-140671272, 140707850, 140707955-140707957, 140728802, 140728975-140728976, 140729280, 140729318-140729335, 140729383-140729384
702SHOXX0.52673492605233416879591633-591909, 595353-595373, 595395-595406, 595416-595429, 595432-595487, 595517, 595521-595540, 595551-595558, 605136-605142
703CSF2RAX0.4275862068965574713051401597-1401614, 1401631, 1401638, 1401653-1401672, 1404671-1404753, 1404767-1404806, 1404812-1404813, 1407435-1407453, 1407652-1407654, 1407665, 1407668, 1407671, 1407678-1407702, 1407757-1407758, 1409292, 1409295, 1409333-1409336, 1409344, 1409382, 1409396-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422884, 1422893-1422912, 1424339-1424340, 1424377-1424382, 1424388-1424400, 1424414-1424416
704ARXX0.9698046181172351168925031643-25031674, 25031724-25031725, 25031779, 25031782, 25031881-25031895
705RPGRX0.83463428736629572345938144863-38144864, 38145123-38145147, 38145287-38145310, 38145318-38145321, 38145325-38145326, 38145331-38145373, 38145389-38145739, 38145759-38145801, 38145811, 38145827-38145831, 38145974-38145976, 38146003-38146048, 38146077, 38146148-38146157, 38147132-38147143
706NYXX0.9149377593361123144641332744-41332746, 41332795-41332817, 41333024-41333027, 41333163-41333177, 41333241-41333248, 41333330-41333343, 41333371-41333373, 41333392-41333405, 41333430-41333434, 41333945-41333978
707MAOAX0.994949494949498158443572007-43572014
708FOXP3X0.998456790123462129649110501-49110502
709FGD1X0.9979209979216288654494244-54494249
710ARX0.996742671009779276366765159-66765164, 66766357-66766359
711DLG3X0.998370008149964245469665078-69665081
712MED12X0.998928680746867653470360614, 70360617, 70360623, 70360632, 70361098-70361100
713TAF1X0.9947201689545930568270586193-70586195, 70586199-70586225
714PCDH19X0.9966727162734411330699663567-99663577
715XIAPX0.9959839357429761494123025127-123025132
716ZIC3X0.98931623931624151404136648985-136648987, 136651134-136651145
717SOX3X0.97464578672632341341139586451-139586456, 139586465, 139586488, 139586492-139586494, 139586498-139586515, 139586698-139586702
718AFF2X0.9987296747967553936147582625-147582629
719FAM58AX0.9850340136054411735152864480, 152864508-152864513, 152864516-152864519
720SLC6A8X0.917190775681341581908152954035-152954036, 152954041, 152954046-152954049, 152954055-152954090, 152954104-152954151, 152954162-152954217, 152954224-152954226, 152954229-152954236
721ABCD1X0.82305630026813962238152990734, 152990773-152990805, 152990860-152990875, 152990920-152990925, 152990990-152991001, 152991050-152991066, 152991128-152991159, 152991189-152991205, 152991243-152991295, 152991361-152991374, 152991425-152991477, 152991491-152991521, 152991536-152991549, 152991590-152991608, 153001566-153001570, 153001669-153001671, 153001683, 153001686, 153001885-153001892, 153008473-153008479, 153008675-153008678, 153008720-153008734, 153008943-153008973, 153009133-153009135
722L1CAMX0.99708532061473113774153133781-153133784, 153135311-153135317
723AVPR2X0.9919354838709791116153171759-153171767
724MECP2X0.9812959251837281497153363063-153363074, 153363093-153363098, 153363101-153363104, 153363110, 153363117-153363121
725OPN1LWX0.97808219178082241095153418521-153418544
726OPN1MWX0.95159817351598531095153453337-153453343, 153453443-153453449, 153453477, 153453493, 153455583-153455601, 153455651-153455668
727OPN1MWX0.95525114155251491095153490595, 153490611, 153492701-153492719, 153492769-153492786, 153496097-153496103, 153496107, 153496125, 153496198
728FLNAX0.924848942598195977944153577927-153577933, 153579284-153579288, 153580681-153580698, 153580942-153580946, 153581175, 153581200, 153581267-153581272, 153581471-153581475, 153581514-153581521, 153581730-153581750, 153581776-153581777, 153581789, 153581802-153581815, 153582534-153582539, 153582809-153582810, 153583339-153583344, 153585821-153585832, 153586604-153586617, 153587421-153587432, 153587663-153587691, 153587934-153587959, 153587976-153587977, 153588011-153588014, 153588218-153588242, 153588408-153588416, 153588473-153588509, 153588640-153588644, 153588756-153588765, 153588850-153588872, 153589696-153589698, 153589748-153589768, 153589910-153589929, 153590120-153590127, 153590386, 153590663, 153590666, 153590900-153590906, 153591087, 153592448, 153592974-153592979, 153593049-153593058, 153593850, 153594463-153594465, 153594822-153594823, 153595193-153595218, 153596016-153596031, 153596349-153596352, 153599316-153599366, 153599394-153599417, 153599443-153599457, 153599487-153599494, 153599535-153599566, 153599595-153599613
729EMDX0.80653594771242148765153607887-153607920, 153608084-153608115, 153608137-153608154, 153608318-153608321, 153608659-153608695, 153609244-153609255, 153609334-153609344
730TAZX0.9556400506970835789153640241-153640265, 153640276, 153640279-153640282, 153640442-153640446
731GDI1X0.99032738095238131344153665615-153665627
732G6PDX0.99877899877921638153764167, 153764172
733IKBKGX0.9945355191256881464153792573-153792580
734IKBKGX0.983640081799598489153868347-153868354
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3HNMT-T105Ihomozygous0.077Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.821 (possibly damaging)
3MYO1A-G662Ehet unknown0.026Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
2.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5ERCC2-A717Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5ERCC2-L461Vhet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.615 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
2KEL-T193Mhet unknown0.032Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-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
1.5MATN3-T303Mhet unknown0.011Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-V73Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGFB1-R25Phet unknown0.049Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADRB2-G16Rhet unknown0.413Unknown
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
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COMP-N386Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NOTCH3-L1518Mhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.954 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ANO7-D70Nhomozygous0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KBTBD8-F179Lhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
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
1AHI1-R830Whet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ABCC2-V1188Ehet unknown0.062Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ARMS2-R3Hhomozygous0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1STAMBPL1-E204Khomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
1CHIT1-A442Ghet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CROCC-P511Shet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.94 (probably damaging)
1CROCC-E1037Qhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
1CROCC-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DPYD-I543Vhomozygous0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PKD1L2-M2313Ihet unknown0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-L2117Ihomozygous0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Y2079ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PKD1L2-A2054Thomozygous0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Y2048Shomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-P2045Lhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Q2035Rhomozygous0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-G1847Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Q1701Hhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-S1665Yhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-K1575*het unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1PKD1L2-T1048Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-M1042Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-R1040*het unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1PKD1L2-L1036Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PKD1L2-Q999Hhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-R998Chet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-A863Vhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-G785Chet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-L711Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-R636Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-P512Lhet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-K416Qhet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1PKD1L2-E221Ghet unknown0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Q120Lhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-W73Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-V20Ahet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CYBA-Y72Hhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1MEFV-R408Qhet unknown0.005Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MEFV-P369Shet unknown0.005Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
1POLG-Q1236Hhet unknown0.058Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1POLG-E1143Ghet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1BRCA2-N289Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-N991Dhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf23-K115ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FANCM-S175Fhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCM-I1460Vhomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
1FANCM-P1812Ahomozygous0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ITIH5L-W1041Shomozygous0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
1EDA2R-T129Ahomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1EDA2R-R57Khomozygous0.558Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
1EDA2R-Y8Hhomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CDKL5-Q791PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HCCS-A72VhomozygousDominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-P84PQGEGKPhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1GPC3-V429Mhomozygous0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75CDKN1A-S31Rhet unknown0.133Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75TEP1-S1447Thet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75TEP1-S920Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ALMS1-Y4144*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-D387Ehet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.951 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ANKRD11-P2059Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5ANKRD11-P1638Ahet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.679 (possibly damaging)
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5FAM22F-P29Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TAF1C-R722Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-G429Rhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPV1-I585Vhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV1-T469Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV1-M315Ihomozygous0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV1-P91Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP11B2-G435Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC16A11-P443Thet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5SLC16A11-D127Ghet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC16A11-V113Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLTPD2-V49Fhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.121 (benign)
0.5GLTPD2-H225Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GLTPD2-A237Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RABEP1-M628Ihet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ACSM3-L100Phet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5ACSM3-K367Nhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5RBL2-Y210Chet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5RBL2-E575Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5FBN1-P1141Lhet unknownUnknown
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
0.5NARG2-K139Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5NARG2-P66Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5APH1B-F217Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOAP1-V197Mhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5AVEN-E243Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5AVEN-GGGG42Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK311524-W181Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCRN2-Q330Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SCRN2-M323Vhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCRN2-K103Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCI-A86Vhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-K46Rhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1A1-I462Vhet unknown0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.488 (possibly damaging)
0.5FAM154B-P34Lhet unknown0.463Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5FAM154B-T115Ahet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging)
0.5ALPK3-R336Hhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ALPK3-P1299Lhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBX4-G6Ahomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNA2-T125Ahomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF544-E158Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF544-Q700Rhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ZNF544-R708Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LYPD4-T184Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5TPO-A373Shomozygous0.404Unknown
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
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RFXANK-E48Dhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), 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
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhomozygous0.364Unknown
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
0.5KCNN4-H340Nhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-V12Mhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-Y150Chet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-I114Thomozygous0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-F606Lhet unknown0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-R573Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-P404Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GP6-K323Thomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-P314Ahet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.121 (benign)
0.5GP6-A249Thet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-E237Khet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-P219Shomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RCN3-T244Mhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5FUT2-G258Shomozygous0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
0.5ZNF274-V42Ihomozygous0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.562 (possibly damaging)
0.5ZNF274-Q45Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMPK-L423Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELSPBP1-G61Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5ELSPBP1-R73Chet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5ELSPBP1-P185Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL12RB1-G378Rhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SULT6B1-R143Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-L112Fhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.5TSEN54-R109Ghet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.84 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FDXR-G418Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FDXR-R251Whet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5SPATA7-V74Mhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-G1104Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E992Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E917Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC105-S444Thomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5CCDC105-G458Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PGLYRP2-H464Yhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ZNF440-P88Rhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZNF440-N124Shomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5ZNF440-S569Nhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DSG3-S771Fhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DSG3-T912Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GTF2I-N440Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-E2388Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-E4311Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
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-V5265Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.493 (possibly damaging), Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MASTL-P620Ahet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.743Unknown
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-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGT-M268Thomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL17A1-A1435Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghet unknown0.288Unknown
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-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE6C-S270Thomozygous0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLAU-V15Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLAU-L141Phomozygous0.842Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANXA11-R191Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAM35A-L404Shifthet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FAM35A-S550Chet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.5DMD-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
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LRP8-R952Qhomozygous0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP8-D46Ehomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM61-E40Khet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IFI44L-I235Thet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IFI44L-M390Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.446 (possibly damaging)
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-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
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5HSPG2-S4331Nhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-H3256Yhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-R2977Whet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RWDD3-I15Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5RWDD3-V47Ahomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RWDD3-N86Khomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-H1880Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R788Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-E785Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL6R-D358Ahomozygous0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (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
0.5NPHS2-R229Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5BNIPL-T3Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5IGSF3-V920Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-E676Qhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-S536Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-T533TTGQKTLThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OVGP1-E521Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OVGP1-T518Shet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5OVGP1-Y514Hhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-S511Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MADD-R766*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DIAPH3-P588Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FNDC3A-T1017Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5CSNK1A1L-R170Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CSNK1A1L-D42Ehomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MPHOSPH8-S369Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MPHOSPH8-D460Yhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5SGCG-R116Hhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NUPL1-A34Thet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUPL1-S166Phet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.514 (possibly damaging)
0.5B3GALTL-G369Shet unknownUnknown
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
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RDH12-R161Qhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-Y238Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OXER1-L407Vhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5OXER1-M40Ihet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.931 (probably damaging)
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KNTC1-H748Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5HPD-V340Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B4GALNT3-G59Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALNT3-K411Rhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.236 (possibly damaging)
0.5B4GALNT3-R992Hhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNFRSF1A-R121Qhet unknown0.015Complex/Other
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.148 (benign), Testable gene in GeneTests
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
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FAM111B-Y132Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLECL1-H7Qhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.944 (probably damaging)
0.5CDKN1B-V109Ghomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5VEZT-N357Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VEZT-V496Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.25 (possibly damaging)
0.5VEZT-G762Dhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SDSL-L229Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK8-D130Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5AK8-I5Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N551Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-G900Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5KRT86-V50Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT86-G52Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-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
0.5ADAMTS10-R62Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-A499Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATXN1-I730Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAT2B-R653Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5FANCD2-G901Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZC3H7B-E356Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZC3H7B-D360Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BTNL2-S360Ghet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-K196Ehet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-D118Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HSPA1L-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)
0.5TRIM15-S324Nhomozygous0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5METTL2B-V266Ihomozygous0.970Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5METTL2B-R302Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL7A1-R1120Khet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL7A1-P268Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-A986Shomozygous0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MED12L-D610Yhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5PROP1-A142Vhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZAN-L16Fhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZAN-P1878Shet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-R1922Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-R1922Hhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-F1968Lhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-S2034Thet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-N2072Shet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-L2110Phet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-F2344Shifthet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5ZAN-W2429Rhomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-G2669Ahet unknown0.563Unknown
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
0.5MAML1-G97Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.403 (possibly damaging)
0.5CHEK2-E493Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHEK2-Y488Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
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
0.5PRPH2-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
0.5NRIP1-R448Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLGAP4-R10Hhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5CAPN11-L142Phet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CAPN11-V266Mhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KIF6-W719Rhomozygous0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
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
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-SK75RQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1671-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)
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R199Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q158Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G45Ahet unknown0.174Unknown
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-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
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5SLC19A1-H27Rhomozygous0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SERPINI1-A280Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYOT-K74Qhomozygous0.985Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYOT-N108Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYOT-E149Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LIFR-H116Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F11-E135*het unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-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
0.5BDP1-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
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-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-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-I207Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.119 (benign), Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-V12Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEIL3-P117Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-H286Rhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5NEIL3-P443Lhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIT-M541Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5SGCD-R96Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYTL1-R136Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TET2-L34Fhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5TET2-V218Mhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TET2-I1762Vhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5TET2-H1778Rhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF638-N980Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5ZNF638-C1198Rhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5ZNF638-V1726Mhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF638-A1912Vhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BMPR2-S775Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ALS2-G1069Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRPS9-S13Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RGPD4-D761Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RGPD4-T1410Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5DYSF-I852Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARMC2-T546Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (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-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A6512Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LCT-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
0.5DNAH6-V141Mhomozygous0.928Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-G1694Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5DNAH6-Y2119Chet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-L169Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-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-M2023Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R1856Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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-Y1064Chet unknownUnknown
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
0.5PRR15-P124Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ASB10-R438Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ASB10-P387Thet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FASTKD1-S768*het unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FASTKD1-M467Vhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5TTN-R30395Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I29477Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V28135Mhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-R21422Hhet unknown0.048Unknown
not reviewed
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-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-G9378Rhet unknown0.431Unknown
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-I8474Thet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P7650Lhet unknown0.062Unknown
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-S5190Nhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-V3261Mhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K3154Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G2392Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I1544Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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)
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R3842Lhet unknown0.018Unknown
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
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5FNDC1-E463Qhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-G829Ehet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5FNDC1-Q1003Ehomozygous0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-L1261Phomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.38 (possibly damaging)
0.5FNDC1-Q1280Rhomozygous0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-T1504Khomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-R105Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V1B1-E161Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM8-R247Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TRPM8-Y251Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRPM8-S419Nhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5COL6A3-D2831Hhet unknown0.068Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-P2218Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-S227Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GKN2-D65Yhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC108-D1234Ghet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CCDC108-M66Lhomozygous0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5DDC-M217Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R368Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BMPR1A-E415Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQQQQQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQQQQQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375RP1-A906Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.375RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.375FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.375FLNB-I2319Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375WDR36-D548Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-D386Nhet unknown0.226Unknown
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
0.25SPINK5-E825Dhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SNAPC4-F449Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNAPC4-P83Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELN-G581Rhet unknown0.073Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SARDH-M648Vhomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-E372Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-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
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25SPTBN2-R1880Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPTBN2-V1034Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25SPTBN2-S825Ghomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO1G-Q861Rhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO1G-M489Thomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO1G-V367Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-D150Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25HOXA1-R73Hhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25C4A-V902Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C4A-T907Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCP11-G266Ahet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCP11-D45Ahet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCP11-G6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25EYS-R2326Qhet unknown0.355Unknown
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-L1873Vhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-S1517Ghet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-R1515Whet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1451Thet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1361Vhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q1325Ehet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1263Vhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shet unknown0.517Unknown
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
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T238Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.841 (possibly damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-T1296Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH14-L828Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1010Rhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R1011Qhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-N1099Yhomozygous0.804Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-M1110Ihomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-M1133Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAH14-D3393Ehomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K3474Ehomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-Q3556Rhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-V3627Ahomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R3670Khomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-N3969Khet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-L4096Phet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.25USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V165Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V244Lhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCA4-H423Rhet unknown0.258Unknown
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
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHR-M490Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AHR-R554Khet unknown0.222Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHR-V570Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign)
0.25LEPR-K656Nhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR52K1-Q52Rhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR52K1-R172*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB4-R652Ghet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25PLCE1-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
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADRB1-CAR393DAHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPARCL1-D343Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SPARCL1-H106Dhet unknown0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPARCL1-A49Dhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF213-S407Nhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF213-L821Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RNF213-V829Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF213-E1988Ghet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.25TMPRSS3-I253Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMPRSS3-G111Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.25DOCK8-N413Shomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25MTUS1-E1186Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MTUS1-C148Rhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARHGEF33-S582Phet unknown0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARHGEF33-S582Phet unknown0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OTOF-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
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO7B-G21Shet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO7B-V572Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO7B-Y1000Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KISS1R-L364Hhet unknown0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNFRSF11A-A192Vhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TNFRSF11A-K240Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BCAM-T539Ahet unknown0.329Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25BCAM-P589Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEKHG2-R647Hhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25PLEKHG2-R992Khet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.474 (possibly damaging)
0.25PLEKHG2-Q1322Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLEKHG2-P1329Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25PCNT-A2903Thet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.085 (benign), Testable gene in GeneTests
0.25PCNT-T3198Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ENDOG-S12Lhomozygous0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ENDOG-K297Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), 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
0.25ANK2-P2835Shet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLN5-K368Rhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25CUX2-S458Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CUX2-T473Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CUX2-V1472Lhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CUX2-V1472Lhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HSD17B4-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
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-N227Shet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6C-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
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25FBP1-R218Khomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FBP1-T92Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25TRIOBP-A660Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-T817Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25CSF2RB-E249Qhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CSF2RB-S709Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCARF2-A832Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCARF2-A814Ghet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCARF2-E764Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCCC1-H464Phet unknown0.584Unknown
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
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25SAMD15-L18Phet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SAMD15-K370Ehet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SAMD15-K454Ehet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SAMD15-S505Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AX747619-W176Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AX747619-E64Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0CCR5-S185Shifthet unknown0.048Recessive
protective
Insufficiently evaluatedPrioritization score: 2
Frameshift
0COL6A2-I697Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,746,631,540 bases (96.1% of callable positions, 89.2% of total positions)

Coding region coverage: 31,462,986 bases (94.5% of all genes, 95.6% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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