huAF3415 - GET-Evidence variant report

Variant report for huAF3415

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1PYGM-R50XHighWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.00195204Causes Glycogen Storage Disease Type V (McArdle's disease) in a recessive manner.1
2CAV3-T78MHighUncertainUncertain pathogenic

Dominant, Heterozygous
0.00427589This variant was implicated in causing Long QT-Syndrome (LQT9) and sudden infant death syndrome, but the evidence fails to reach significance and functional study failed to find a significance difference in biochemical behavior.1
3KCNH2-A913VHighUncertainUncertain pathogenic

Dominant, Heterozygous
Reported by ClinVar to cause Long QT Syndrome (https://www.ncbi.nlm.nih.gov/clinvar/variation/14443/). In ClinVar, it is reported as "likely pathogenic" or "pathogenic" by submissions from Blueprint Genetics, Invitae, and OMIM, however it's listed as "uncertain significance" by GeneDx. These resources reference a couple of papers, including Kapplinger et al. 2009 (https://www.ncbi.nlm.nih.gov/pubmed/19716085), which found this variant in 5 out of 2500 patients tested.1
4VWF-R854QModerateLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00408998Causes type 2N von Willebrand disease in a recessive manner. This defect in coagulation can manifest as excessive bleeding during surgery.1
5DRD2-S311CLowLikelyLikely pathogenic

Dominant, Heterozygous
0.0168247Various studies report this variant in a dopamine receptor is associated with increased risk for schizophrenia. Assuming an average 1% chance of schizophrenia in the general population, combined data suggests carriers of this variant have a risk of 1.4% (0.4% increased risk above average).1
6MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
7MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
8KRT5-G138ELowLikelyLikely pathogenic

Unknown, Heterozygous
0.0521472This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).1
9RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
10ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
11TGIF1-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
12TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
13SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
14ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
15FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
16PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Homozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
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
19MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
20ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
21OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
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
23SERPINA3-P252ALowLikelyLikely benign

Unknown, Heterozygous
An uncommon variant carried by about 1 in 100 Europeans. Claimed by Poller et al. 1993 to cause chronic obstructive pulmonary disease (COPD )in three generations of an affected family, implying a Mendelian hypothesis. Seifart, et al 2007 mentions that publication and states that the association was not replicated in Japanese, and that no association was found in a study of Italian cases.1
24NOTCH3-A1020PLowLikelyLikely benign

Unknown, Heterozygous
0.111835Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data.1
25FANCI-P55LLowLikelyLikely benign

Unknown, Heterozygous
0.0507529Probably benign.1
26MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
27RPGRIP1-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
28DSPP-R68WLowUncertainUncertain benign

Unknown, Heterozygous
0.143045Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism.1
29APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
30CD19-R514HLowUncertainUncertain benign

Unknown, Heterozygous
0.0482432Presumed benign.1
31TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
32PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
33PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
34MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
35SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
36TYR-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
37TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
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
38FAH-R341WLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0172895This variant shows pseudodeficiency for production of FAH protein which is connected with hereditary tyrosinemia type I. Pseudodeficiency was confirmed with site-directed mutagenesis and expression in a rabbit reticulocyte lysate system. The allelic frequency in 516 Norwegian controls was 0.022. 1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31086583 / 33282720 = 93.40%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.2564353209514545646138955553-955753, 957581-957645, 957657-957787, 957799-957842, 970657-970659, 970674-970675, 970686-970704, 976045-976133, 976142-976260, 976553-976777, 976858-976895, 976920, 976929-977027, 977038-977082, 977384-977436, 977452-977470, 977484-977514, 977528-977533, 977539-977542, 978633-978635, 978640, 978649-978652, 978663-978747, 978751-978753, 978762-978787, 978796-978801, 978805-978837, 978918-978931, 978941-978963, 978982-979112, 979237, 979243-979244, 979251-979281, 979284-979286, 979290, 979318-979319, 979366-979403, 979489-979491, 979496, 979505, 979534-979549, 979555-979588, 979605-979637, 979714-979736, 979793, 979819, 980541-980578, 980587-980656, 980755-980794, 980824, 980873-980903, 981141-981181, 981210-981256, 981344-981366, 981383, 981407, 981412-981413, 981416-981425, 981447-981464, 981548, 981553, 981562-981587, 981597-981645, 981777-982018, 982025-982099, 982200-982337, 982714-982733, 982744-982747, 982750-982765, 982778-982779, 982801-982823, 982829-982834, 982953, 982962-983014, 983017, 983021, 983029-983034, 983037-983047, 983156-983208, 983230-983275, 983404-983538, 983548-983745, 984247-984266, 984284-984404, 984410-984439, 984616-984803, 984816, 984826-984831, 984946-985034, 985044-985075, 985086-985098, 985103-985126, 985147-985169, 985175, 985283-985417, 985613-985621, 985629-985632, 985639-985648, 985656-985701, 985843, 985855-985891, 985899-985934, 985959-985971, 986106-986155, 986178-986217, 986633-986668, 986680-986749, 986833-986932, 986960-987013, 987023, 987108, 987121, 987125-987134, 987141-987152, 987157, 987177-987183, 987191-987195, 989146-989147, 989150, 989173-989236, 989257, 989261, 989285-989317, 989347-989356, 989828-989831, 989845, 989851, 989884, 990211-990252, 990261-990267, 990280-990282, 990296-990316
2GABRD10.4724061810154571713591950863-1950930, 1956381-1956388, 1956453, 1956463-1956469, 1956472-1956473, 1956483-1956493, 1956773-1956785, 1956803-1956820, 1956957-1956968, 1957010-1957079, 1957095-1957113, 1957120-1957177, 1959039, 1959051-1959052, 1959594-1959619, 1959630-1959632, 1959635, 1959654, 1959677-1959720, 1960550-1960551, 1960574-1960611, 1960673-1960705, 1960990-1961026, 1961066-1961069, 1961077, 1961111-1961151, 1961179-1961201, 1961448-1961475, 1961483, 1961486-1961491, 1961540-1961606, 1961634-1961651, 1961662-1961714
3PEX1010.61773700305813759812337226-2337228, 2337233-2337249, 2337273, 2337923-2337970, 2337985-2337995, 2338037-2338046, 2338174-2338180, 2338212, 2338246, 2338253-2338268, 2338271-2338274, 2338301, 2338312-2338334, 2340000-2340029, 2340068-2340069, 2340107-2340165, 2340174-2340179, 2340187-2340196, 2340209-2340218, 2340268-2340279, 2340296, 2343830-2343909, 2343920-2343941
4NPHP410.9390329362298526142815923963-5923966, 5925317-5925323, 5934637, 5934948-5934952, 5934955, 5935035-5935067, 5935151-5935155, 5947398-5947409, 5947453, 5947456-5947465, 5947492-5947498, 5947504-5947524, 5950942-5950946, 5951020, 6038330-6038473, 6046262-6046264, 6046320
5ESPN10.6526315789473789125656485016-6485143, 6485150-6485192, 6485203-6485309, 6488299-6488346, 6488377-6488401, 6488426-6488432, 6488462-6488479, 6500384-6500404, 6500412-6500455, 6500466-6500489, 6500686-6500800, 6500847-6500868, 6501015-6501037, 6501059-6501065, 6505779, 6505795, 6505848-6505861, 6505888-6505899, 6508701-6508737, 6508760-6508793, 6508804-6508857, 6508882-6508888, 6508922-6508928, 6509050-6509086, 6511693-6511709, 6511896, 6511910, 6511936-6511942, 6512106-6512133, 6517244
6PLEKHG510.8977735967387932631896527628, 6527894, 6527902-6527906, 6528177-6528205, 6529201-6529209, 6529241, 6529245-6529250, 6529703-6529707, 6529714-6529723, 6529730, 6530652-6530673, 6530703, 6530820-6530854, 6531120, 6531149-6531153, 6531595, 6531601, 6531607-6531609, 6531612, 6532638, 6533360, 6533392-6533413, 6533416-6533417, 6533421, 6533424, 6534098, 6534108-6534112, 6534118, 6534124, 6534526-6534531, 6534535-6534561, 6534564, 6534624, 6534633-6534647, 6535111-6535137, 6535161-6535171, 6535198, 6537687-6537690, 6556556, 6556564, 6556577-6556629, 6557380-6557383
7PEX1410.81040564373898215113410659344, 10684432-10684479, 10687330-10687332, 10687398, 10687401, 10687404, 10687413, 10689683-10689689, 10689697-10689771, 10689797-10689822, 10689884, 10689895, 10689923-10689925, 10689957-10689974, 10689991-10690018
8TARDBP10.9702811244979937124511082326-11082362
9MASP210.86026200873362288206111090884-11090889, 11094885-11094886, 11094891-11094895, 11097815, 11097837, 11097840-11097849, 11102964-11102987, 11103040, 11103057-11103058, 11103405-11103409, 11103463-11103465, 11103478, 11103491-11103525, 11103534-11103583, 11105501-11105513, 11105563-11105567, 11105580, 11105589-11105590, 11105594-11105596, 11106615-11106622, 11106667-11106672, 11106716-11106718, 11106758-11106762, 11106948-11106981, 11107004-11107037, 11107049, 11107055-11107063, 11107077, 11107091, 11107119, 11107129-11107138, 11107260-11107264
10MTHFR10.9832572298325733197111853985-11853986, 11853996-11854002, 11854005, 11854104-11854111, 11855376, 11860286-11860298, 11861302
11PLOD110.93406593406593144218411994837-11994846, 12023670, 12024249-12024250, 12024785-12024792, 12024831-12024842, 12025584-12025600, 12027116-12027148, 12030735-12030761, 12030813, 12030858-12030873, 12034740, 12034749, 12034816-12034830
12CLCNKA10.75290697674419510206416349137-16349144, 16353261-16353267, 16353885-16353930, 16355269-16355307, 16355334-16355338, 16355663, 16355670, 16355674, 16355704-16355752, 16355761-16355768, 16356549-16356570, 16356956-16357000, 16357012-16357071, 16357091-16357121, 16357151-16357169, 16358205-16358234, 16358260-16358271, 16358275, 16358297-16358303, 16358306-16358307, 16358698-16358714, 16358722-16358779, 16358938-16358941, 16358945-16358957, 16358969-16358973, 16359695-16359705, 16360106-16360113
13CLCNKB10.87936046511628249206416370988-16370993, 16372138-16372143, 16372146, 16373030-16373031, 16374840-16374849, 16374862, 16375061-16375064, 16375642-16375647, 16376177-16376179, 16377383-16377389, 16377392, 16377458-16377464, 16377507-16377524, 16378214, 16378276-16378277, 16378292, 16378307-16378310, 16378693-16378715, 16378761-16378782, 16378792, 16378801-16378803, 16378809-16378817, 16378826-16378854, 16380194-16380198, 16380205-16380208, 16380211-16380212, 16380234-16380257, 16382170-16382189, 16382224-16382236, 16382987-16382993, 16383364-16383370
14ATP13A210.94891335026813181354317312740-17312767, 17313391-17313397, 17313586-17313627, 17313683, 17314963-17314966, 17318612-17318624, 17322471-17322488, 17322499-17322523, 17322627-17322629, 17322907-17322911, 17322920-17322922, 17323606, 17323619-17323622, 17326531-17326534, 17326538-17326560
15ALDH4A110.9509456264775483169219202895-19202896, 19203968-19203970, 19203973-19203974, 19203979-19203981, 19203988, 19204049, 19208197-19208200, 19208326-19208334, 19208339, 19209801-19209850, 19211989, 19212004, 19215932-19215933, 19228963, 19228989, 19228995
16PINK110.9936998854524611174620960089-20960093, 20960245-20960248, 20960263-20960264
17ALPL10.9758730158730238157521887637, 21889728-21889741, 21890617, 21890620, 21896854-21896867, 21903896-21903902
18HSPG210.8724954462659416801317622149809-22149835, 22149843-22149861, 22149892, 22149901-22149932, 22149935, 22150120, 22150123-22150133, 22150153, 22150160, 22150198-22150204, 22150643, 22150658, 22150691-22150697, 22150799-22150824, 22151030-22151066, 22151079-22151093, 22154581-22154587, 22154605, 22154621-22154645, 22154758, 22154760-22154774, 22154799, 22154816, 22154897-22154919, 22155386-22155404, 22155417, 22155428, 22155453-22155486, 22155548, 22155935-22155979, 22155997, 22156033-22156039, 22156050, 22156486, 22156574, 22157520-22157545, 22163430-22163437, 22163452-22163487, 22165416, 22165430-22165432, 22165444, 22165454-22165456, 22165512, 22165901, 22165927, 22167638-22167668, 22168037, 22168046, 22168050, 22168116-22168117, 22168121-22168129, 22168137, 22168509-22168519, 22169293, 22169384, 22169392-22169397, 22169404-22169405, 22169921-22169928, 22170667-22170673, 22170734, 22170737, 22170740-22170749, 22170754, 22170757, 22172632-22172643, 22172664-22172671, 22172732, 22172960-22172967, 22173017, 22173874-22173952, 22173971, 22173977-22173981, 22174182-22174205, 22174248-22174254, 22174275-22174300, 22174479, 22174513-22174540, 22175136-22175139, 22175154, 22175166-22175167, 22175170-22175188, 22175197-22175206, 22175279-22175287, 22175392-22175419, 22175477-22175482, 22175490, 22175493, 22175507-22175524, 22176555, 22176642-22176664, 22176677, 22176880, 22176961-22176967, 22176977-22176982, 22178068, 22178155, 22178159, 22178163-22178164, 22178175, 22178316, 22178349-22178353, 22178356, 22178625-22178648, 22178677, 22178680, 22179205, 22179525, 22179536, 22179540, 22180740, 22181151-22181157, 22181190-22181205, 22181388-22181432, 22181445, 22181462, 22181472, 22181835-22181870, 22181891, 22181927, 22182016-22182022, 22182058, 22182065, 22182307, 22183830, 22183851, 22186059-22186070, 22186093-22186106, 22186134-22186167, 22186328-22186355, 22186376-22186427, 22186469-22186495, 22186670-22186680, 22186708-22186714, 22188283-22188304, 22188325-22188336, 22188543-22188547, 22188580-22188608, 22190593-22190602, 22190652, 22190690-22190706, 22191336-22191342, 22191376, 22191405, 22191412-22191413, 22191439-22191443, 22191450, 22191463, 22191531, 22191789, 22191797-22191814, 22191853-22191854, 22192251, 22198679-22198680, 22198772-22198782, 22198811-22198834, 22199113-22199115, 22199118-22199124, 22199136, 22199142-22199154, 22199173-22199174, 22199200-22199205, 22199495-22199511, 22199521-22199527, 22200439, 22200899-22200920, 22200959-22200960, 22202122-22202137, 22202191-22202194, 22202402, 22202412-22202416, 22205529-22205530, 22206735, 22206935-22206946, 22207042-22207046, 22207149-22207165, 22207235, 22207861-22207866, 22211141-22211155, 22211383-22211395, 22211398-22211406, 22211602, 22211605-22211612, 22211827, 22216924-22216927, 22217151, 22263648-22263710
19WNT410.88068181818182126105622446702, 22446765-22446769, 22447798-22447803, 22456122-22456123, 22456140-22456144, 22456192-22456217, 22456251-22456253, 22456321, 22469339-22469415
20RPL1110.99255121042831453724019177-24019180
21HMGCL10.99284253578732797824151851, 24151854-24151855, 24151862-24151865
22FUCA110.9129193433262122140124194388-24194397, 24194447-24194490, 24194568-24194578, 24194640-24194671, 24194704-24194705, 24194720-24194734, 24194762, 24194765-24194771
23LDLRAP110.989212513484361092725870203, 25870236-25870237, 25870241-25870242, 25870273-25870277
24SEPN110.88069544364508199166826126722-26126904, 26127568, 26135607-26135613, 26138242, 26139266-26139272
25COL9A210.9874396135265726207040769600-40769601, 40782842-40782853, 40782858-40782869
26KCNQ410.87164750957854268208841249766-41249852, 41249866-41249889, 41249891-41249909, 41249934-41249977, 41250000-41250016, 41250031-41250034, 41250038-41250040, 41250045, 41250059-41250066, 41250074-41250079, 41284192-41284196, 41284252, 41284275-41284312, 41288043-41288045, 41296959-41296963, 41304107-41304109
27LEPRE110.9941203075531413221143232390-43232398, 43232612-43232615
28SLC2A110.996619337390135147943424307-43424309, 43424319-43424320
29MMACHC10.988221436984691084945974826-45974835
30POMGNT110.999495713565311198346662434
31ORC110.999613302397531258652841134
32CPT210.999494183105721197753679078
33PCSK910.94612794612795112207955505538, 55505553-55505555, 55521677-55521680, 55521683-55521684, 55521709-55521737, 55521760-55521806, 55521833-55521852, 55521855-55521857, 55523778, 55524256, 55529165
34ABCA410.99985341542071682294586587
35DBT10.99033816425121141449100696358-100696371
36GSTM110.43987823439878368657110230496-110230531, 110230807-110230813, 110230839-110230841, 110230854, 110230858, 110231295, 110231302, 110231691, 110231721-110231733, 110231737-110231746, 110231850, 110231853, 110231867-110231947, 110232893-110232988, 110233076-110233145, 110233185, 110235874-110235917
37NOTCH210.983279395900761247416120539665-120539714, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120547962-120547968, 120548091-120548097, 120572547, 120572572, 120572609-120572610, 120611991-120612009
38FLG10.90169046446742119812186152276441-152276447, 152276526, 152276583, 152276616, 152276626-152276628, 152276668-152276702, 152276755-152276775, 152276889, 152277014, 152277021, 152277027, 152277035, 152277044, 152277055, 152277072-152277109, 152277134-152277174, 152277251-152277260, 152277342-152277374, 152277428-152277473, 152277585-152277591, 152277693-152277720, 152277881-152277887, 152278046-152278052, 152278431-152278437, 152278545-152278558, 152278678-152278692, 152278853-152278859, 152279357-152279390, 152279403-152279409, 152279524-152279530, 152279634, 152279642, 152279744, 152279757-152279784, 152279828, 152279848, 152280170, 152280173-152280183, 152280262-152280268, 152280347, 152280468-152280495, 152280556-152280576, 152280594-152280617, 152280643-152280674, 152280682-152280694, 152280736, 152280864, 152280900, 152281039, 152281225-152281231, 152281287-152281325, 152281479, 152281520-152281537, 152281559-152281592, 152281683-152281710, 152281872-152281878, 152281935-152281951, 152281969, 152281980, 152281984, 152282129, 152282267, 152282418, 152282809-152282815, 152283020-152283026, 152283233-152283254, 152283427-152283433, 152283467-152283473, 152283623-152283665, 152283941-152283978, 152284140-152284182, 152284235-152284258, 152284328-152284347, 152284374-152284398, 152284475-152284521, 152284592-152284632, 152284652-152284683, 152284803-152284837, 152284851-152284857, 152284915, 152284919, 152284932, 152285049-152285055, 152285137, 152285185-152285191, 152285327, 152285358, 152285577, 152285809, 152285826-152285863, 152286161-152286173, 152286185, 152287023-152287025
39CHRNB210.9980119284294231509154544393-154544395
40DPM310.997289972899731369155112602
41GBA10.9766081871345281197155184364-155184389, 155184416, 155186655
42PKLR10.98840579710145201725155265023, 155269947-155269962, 155269989, 155269995-155269996
43LMNA10.996472663139332567156105038, 156105041
44LMNA10.9974937343358451995156105038, 156105041, 156108326, 156108331, 156108476
45SEMA4A10.9982502187226642286156131158-156131161
46NTRK110.953994144709331102391156830738-156830807, 156830844, 156843441-156843477, 156844377, 156851338
47SLC19A210.9979919678714931494169454958-169454960
48F510.99700374531835206675169510325-169510344
49ASPM10.998562392179411510434197070520-197070534
50CACNA1S10.9992885094272545622201081431-201081434
51PKP110.9963319578175182181201292289-201292296
52ADCK310.937757201646091211944227152724-227152737, 227152847, 227152855-227152859, 227152912-227152923, 227153026-227153034, 227153421-227153426, 227169811-227169844, 227170379-227170380, 227170445-227170448, 227170595-227170600, 227170689-227170712, 227170723, 227171878-227171880
53GJC210.196969696969710601320228345460-228345471, 228345498-228345502, 228345546-228345584, 228345588-228345590, 228345613, 228345635-228345678, 228345687-228345803, 228345829-228346009, 228346038, 228346041-228346110, 228346136-228346149, 228346151-228346152, 228346177-228346234, 228346246-228346513, 228346523-228346569, 228346582-228346779
54ACTA110.95855379188713471134229567468, 229567638, 229567641, 229567647, 229567869-229567872, 229567929, 229568017-229568036, 229568050-229568054, 229568111-229568120, 229568322-229568324
55ACTN210.9981378026070852685236850038-236850040, 236850045, 236850049
56IL2RA100.99755799755828196104099-6104100
57GATA3100.99925093632959113358100738
58OPTN100.997116493656295173413151250-13151253, 13151256
59PHYH100.999016715830881101713341987
60PTF1A100.8125633232016218598723481460, 23481581-23481590, 23481626-23481636, 23481652, 23481664-23481699, 23481741-23481743, 23481751-23481757, 23481774-23481805, 23481835-23481884, 23481898-23481908, 23481911, 23481939, 23482132-23482152
61RET100.8609865470852465334543572707-43572779, 43595934, 43595968, 43596025-43596031, 43596042-43596043, 43596097, 43596101, 43596146-43596148, 43597895-43597897, 43597900-43597904, 43597973-43597993, 43598023-43598041, 43598072-43598077, 43600447, 43600450-43600451, 43600457-43600471, 43600478-43600482, 43600501-43600529, 43600556-43600641, 43602012-43602017, 43604544-43604551, 43606857-43606860, 43606889-43606905, 43607617, 43608306-43608313, 43609928-43609941, 43609973-43609974, 43610089-43610118, 43610132-43610156, 43614995-43614998, 43615002, 43615057-43615083, 43615143-43615147, 43615608, 43619119, 43619213-43619242
62ERCC6100.997991967871499448250740681, 50740784-50740785, 50740788-50740789, 50740822-50740825
63CHAT100.94882064975523115224750822246-50822248, 50822275, 50822324-50822368, 50822378-50822382, 50822392-50822399, 50822420-50822425, 50822430, 50822455-50822474, 50822487, 50822501-50822511, 50857603-50857616
64EGR2100.9839273235499723143164573019-64573021, 64573025-64573028, 64573334-64573336, 64573471-64573473, 64573486, 64573495-64573503
65NODAL100.990421455938710104472195214-72195220, 72201357, 72201385, 72201388
66SLC29A3100.997899159663873142873082572-73082574
67CDH23100.978918058870332121005673337729, 73406327, 73406337, 73439201-73439202, 73439248-73439249, 73442234-73442245, 73442324-73442329, 73447448-73447470, 73455261, 73455273, 73461791, 73462445, 73464721-73464804, 73464867-73464877, 73468938, 73468942-73468947, 73491755, 73494064-73494084, 73501521, 73501528, 73551091-73551092, 73571492-73571510, 73571721-73571732, 73574888
68LDB3100.91712454212454181218488428465-88428468, 88441229-88441230, 88441233-88441234, 88441350, 88441454, 88466312-88466314, 88466345-88466365, 88469743, 88469758-88469763, 88469768-88469779, 88476151, 88476177, 88476185-88476216, 88476218, 88476278-88476300, 88476330-88476341, 88476409-88476415, 88476451-88476491, 88476519-88476528
69GLUD1100.9600477042337567167788854423, 88854427-88854439, 88854455-88854458, 88854468-88854516
70HPS1100.95821462488129882106100177343-100177429, 100177953
71FBXW4100.9959644874899151239103371143, 103371146-103371148, 103371153
72HPS6100.921391752577321832328103825335-103825390, 103825401-103825421, 103825439, 103825443-103825470, 103825496-103825501, 103825531-103825539, 103825542, 103825621, 103825683-103825687, 103825696-103825716, 103825745, 103825749-103825751, 103825760-103825773, 103825784-103825785, 103825798, 103825802, 103825806, 103825809, 103826037-103826041, 103826237-103826238, 103826246, 103826249, 103826255
73SUFU100.99106529209622131455104356994-104357006
74COL17A1100.9997774810858914494105816812
75BAG3100.9849537037037261728121411208, 121411254-121411255, 121411258, 121411346-121411367
76HTRA1100.769230769230773331443124221169-124221345, 124221352-124221367, 124221374-124221418, 124221441-124221446, 124221466-124221511, 124221529, 124221589-124221629, 124266229
77UROS100.9837092731829613798127477437-127477449
78HRAS110.58070175438596239570532673-532677, 532718, 532738-532755, 533453-533469, 533475-533516, 533529, 533544, 533562-533566, 533572-533573, 533578-533580, 533766-533771, 533832-533880, 533902-533928, 533937-533944, 534212, 534219-534226, 534230-534266, 534295, 534309-534315
79TALDO1110.7672583826432361014747491-747504, 747507-747516, 747531-747535, 747558-747578, 755969, 755995, 756001, 758977, 759001, 763344-763372, 763391-763455, 763468-763474, 763493-763519, 763853-763881, 763917-763935, 764369, 764372, 764406, 764411, 764829
80SLC25A22110.26028806584362719972791928-792068, 792142-792217, 792304-792368, 792375-792458, 792564, 792573-792727, 792870-792921, 792935-792988, 793529-793556, 793577, 793617-793619, 794464, 794467, 794498-794506, 794776-794780, 794786-794788, 794802-794806, 794821, 794852, 794870-794901, 794995
81PNPLA2110.473267326732677981515819719-819905, 821708-821758, 821997, 822020-822023, 822470, 822526, 822598, 823537-823540, 823553, 823699-823709, 823729, 823733-823735, 823749-823761, 823775, 823805-823847, 823853-823855, 823998-824076, 824098-824106, 824114-824130, 824314-824340, 824348-824436, 824523-824620, 824630-824691, 824705-824734, 824760-824814, 824831-824836
82CTSD110.4705407586763565612391774733-1774754, 1774763-1774794, 1774810-1774814, 1774827-1774867, 1775034-1775036, 1775040-1775042, 1775054, 1775065, 1775069-1775071, 1775090-1775131, 1775224-1775242, 1775312-1775368, 1778554, 1778579-1778618, 1778636-1778670, 1778682, 1778688-1778690, 1778760-1778766, 1778772-1778778, 1780199-1780213, 1780229-1780231, 1780240, 1780252-1780256, 1780269-1780275, 1780303-1780317, 1780746-1780830, 1780854-1780868, 1782559-1782632, 1782640-1782657, 1782672-1782698, 1785022-1785089
83TNNI2110.499089253187612755491861461-1861468, 1861633-1861657, 1861759-1861859, 1862051-1862069, 1862083-1862092, 1862095-1862106, 1862277-1862330, 1862346-1862347, 1862353-1862365, 1862370, 1862423-1862437, 1862697-1862711
84TNNT3110.238095238095245927771946329-1946346, 1947925-1947939, 1950357-1950373, 1951040-1951045, 1954951-1955034, 1955049-1955050, 1955161-1955197, 1955205-1955238, 1955562-1955675, 1955783-1955786, 1955794-1955800, 1955810-1955884, 1956059-1956098, 1956107-1956149, 1958193-1958233, 1959668-1959722
85H19110.931839402427647310712017413-2017415, 2017418-2017421, 2017578, 2017643-2017646, 2017753, 2017757, 2017797-2017823, 2017876, 2017905-2017923, 2018118-2018124, 2018154-2018155, 2018160, 2018260, 2018374
86IGF2110.0703234880450076617112154217-2154399, 2154410-2154420, 2154427-2154453, 2154747-2154895, 2156620-2156759, 2161365-2161497, 2161509-2161526
87TH110.034920634920635152015752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189362, 2189369-2189383, 2189386-2189387, 2189401-2189409, 2189721-2189841, 2189849-2189895, 2190880-2191101, 2191920-2192000, 2192945, 2192950-2192973, 2192979-2193016
88KCNQ1110.7577548005908449220312466329-2466714, 2591913-2591932, 2592578-2592589, 2593310-2593329, 2593332, 2604679-2604693, 2606510-2606520, 2608824-2608831, 2608836, 2608917-2608919, 2608922, 2610073-2610084, 2790148-2790149
89CDKN1C110.0672975814931658879512905236-2905255, 2905272, 2905275-2905276, 2905283-2905286, 2905292-2905294, 2905309-2905321, 2905333-2905339, 2905348-2905364, 2905900-2906719
90SMPD1110.99683544303797618966411931-6411936
91ABCC8110.9932574799831432474617498269-17498273, 17498294-17498298, 17498302-17498323
92USH1C110.998518518518524270017548569, 17565829-17565831
93WT1110.92149292149292122155432456465-32456469, 32456491, 32456495-32456496, 32456501-32456502, 32456520-32456550, 32456587-32456606, 32456648, 32456652-32456656, 32456663-32456688, 32456694-32456698, 32456743-32456745, 32456753-32456766, 32456771-32456773, 32456776, 32456799-32456801
94ALX4110.9781553398058327123644286449-44286451, 44286463, 44286495, 44286604-44286609, 44331151-44331155, 44331170, 44331279-44331281, 44331286-44331288, 44331292-44331295
95SLC35C1110.9659090909090936105645827425-45827426, 45827435-45827439, 45827523-45827537, 45827611-45827613, 45827789, 45827874-45827880, 45832489-45832491
96PEX16110.9337175792507269104145935384, 45935870-45935876, 45935924, 45935951-45935962, 45937070, 45937364-45937377, 45939271-45939303
97F2110.9700374531835256186946740843, 46742073-46742074, 46744731-46744736, 46744936, 46745012, 46747499, 46747503, 46747626-46747640, 46747663, 46748105, 46748131, 46748355, 46749582-46749588, 46749672, 46750375, 46751086-46751097, 46751104-46751106
98DDB2110.996105919003125128447259690-47259694
99MYBPC3110.9037908496732368382547354196, 47362737, 47365156-47365175, 47367780-47367784, 47367840-47367842, 47367872-47367907, 47368194-47368195, 47368992-47369011, 47369219, 47369408-47369417, 47369977-47369980, 47369984-47369985, 47370016-47370021, 47370044-47370050, 47371339-47371344, 47371354, 47371427-47371432, 47371461, 47371464-47371473, 47371581-47371626, 47372057-47372063, 47372073-47372150, 47372790-47372809, 47372846-47372861, 47372867-47372874, 47372934-47372956, 47373004-47373019, 47373030, 47373035, 47373040-47373048, 47373052
100SLC39A13110.84139784946237177111647431757, 47431760, 47431769-47431771, 47431783, 47431821-47431837, 47433498, 47433542-47433559, 47433912-47433931, 47435017, 47435148-47435170, 47435976-47435989, 47436396-47436436, 47436454-47436460, 47436590-47436614, 47436696, 47436877-47436879
101RAPSN110.87005649717514161123947459526-47459531, 47459575-47459581, 47460329-47460331, 47460343-47460347, 47460366-47460372, 47463167-47463197, 47463215-47463233, 47463253-47463285, 47463396-47463403, 47463409-47463412, 47463448-47463463, 47464210-47464212, 47464219-47464226, 47470359-47470363, 47470422, 47470432-47470436
102NDUFS3110.99874213836478179547602505
103ROM1110.9678030303030334105662380789-62380794, 62380801, 62380934-62380951, 62381329-62381337
104BSCL2110.993520518358539138962472962-62472970
105SLC22A12110.70276774969916494166264359101, 64359113, 64359156-64359190, 64359257-64359262, 64359277, 64359297-64359317, 64359362-64359363, 64359382-64359407, 64359418, 64360251-64360278, 64360284-64360295, 64360311, 64360880-64360882, 64360885, 64360919-64360951, 64360999, 64361154, 64361180, 64361198, 64361203, 64361207-64361231, 64361274-64361275, 64365988-64366005, 64366019, 64366043, 64366046-64366061, 64366280-64366284, 64366287-64366293, 64366297-64366300, 64366310-64366312, 64366329-64366355, 64367148-64367183, 64367188-64367192, 64367215-64367250, 64367263-64367362, 64367853, 64367858-64367861, 64367931-64367932, 64368240-64368244, 64368276-64368279, 64368375, 64368397-64368410
106PYGM110.85290628706999372252964518814, 64519070, 64519094, 64519099, 64520545-64520549, 64520610-64520635, 64520657, 64521010-64521067, 64521080-64521109, 64521141-64521154, 64521394-64521398, 64521411, 64521423-64521449, 64521732-64521760, 64521769-64521801, 64522173-64522187, 64525251-64525257, 64525262, 64525375, 64525819-64525821, 64525962, 64526153-64526176, 64527128-64527205, 64527271, 64527293-64527295, 64527300-64527303, 64527361
107MEN1110.94588744588745100184864571858, 64572046, 64572059, 64572105-64572106, 64572147, 64572248-64572284, 64572542-64572550, 64572557-64572559, 64572596-64572604, 64572609, 64575025, 64575041, 64577238, 64577241-64577251, 64577451, 64577482, 64577510, 64577517, 64577521-64577535, 64577542, 64577581
108RNASEH2C110.9979797979798149565488106
109EFEMP2110.9902402402402413133265637614-65637621, 65638639, 65638644-65638647
110CST6110.975555555555561145065779734-65779744
111SPTBN2110.96458943259445254717366460833-66460835, 66460838, 66466485, 66468033-66468034, 66468229, 66468370-66468373, 66468530, 66468639, 66468744-66468751, 66469092-66469093, 66472139-66472143, 66472172-66472189, 66472219, 66472236-66472240, 66472279, 66472502-66472508, 66472600-66472612, 66472711-66472722, 66472750-66472764, 66472767, 66472893-66472898, 66472901, 66472937-66472939, 66475075-66475086, 66475121-66475154, 66475204-66475223, 66475241-66475261, 66475633-66475637, 66475682-66475689, 66475737-66475763, 66475770, 66478090-66478098, 66478226, 66478233-66478236
112PC110.90274243709358344353766616745-66616746, 66617257, 66617288, 66617571, 66618150-66618153, 66618158-66618169, 66618189, 66618199-66618200, 66618260, 66618270-66618278, 66618557, 66619408-66619417, 66620011-66620017, 66620034-66620086, 66620096-66620117, 66620218-66620220, 66631285, 66631345-66631351, 66631383, 66631389, 66631417-66631427, 66633696-66633708, 66633753, 66633756, 66633789-66633819, 66636320-66636345, 66637784, 66637876-66637877, 66638339-66638341, 66638354-66638356, 66638615-66638625, 66638792-66638842, 66638852, 66638856-66638861, 66638867, 66638872-66638874, 66638894, 66638905, 66638949-66638951, 66639196-66639226, 66639310, 66639318, 66639519
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114AIP110.4149043303121958199367254481-67254487, 67254503-67254537, 67254629-67254630, 67254654-67254656, 67256759-67256769, 67256772-67256774, 67256792-67256818, 67256827-67256830, 67256871-67256873, 67256900-67256905, 67256916-67256926, 67257509-67257561, 67257573-67257612, 67257620-67257685, 67257787-67257802, 67257809-67257878, 67257887-67257893, 67257918-67257928, 67258259-67258464
115NDUFS8110.5908372827804125963367799625-67799631, 67799634-67799660, 67799674-67799676, 67799777, 67800391-67800406, 67800414, 67800434-67800473, 67800638-67800641, 67800666-67800680, 67800732, 67803738-67803763, 67803785-67803834, 67803845-67803848, 67803941-67803946, 67803950-67803966, 67803971, 67804021-67804060
116TCIRG1110.65944645006017849249367808739-67808745, 67808770, 67808782-67808788, 67808848-67808855, 67809220-67809246, 67810110-67810179, 67810195-67810220, 67810252-67810254, 67810256-67810284, 67810294, 67810324-67810330, 67810413-67810423, 67810459-67810465, 67810838-67810870, 67810910-67810922, 67810955, 67810958-67810964, 67811038-67811078, 67811111-67811120, 67811293-67811315, 67811319-67811322, 67811328, 67811334-67811374, 67811599-67811602, 67811634-67811671, 67811674, 67811698-67811702, 67811708-67811709, 67811718-67811725, 67811729-67811730, 67811735-67811748, 67811783-67811785, 67811808-67811811, 67812485-67812510, 67812558-67812561, 67812565-67812569, 67814905-67814907, 67814984-67814987, 67815029-67815039, 67815211-67815213, 67815237-67815238, 67815246, 67815361-67815362, 67815368, 67815388, 67815396, 67816373-67816374, 67816447-67816455, 67816565-67816612, 67816628-67816640, 67816694-67816730, 67816752-67816759, 67817130-67817152, 67817173-67817212, 67817247, 67817429-67817434, 67817496-67817533, 67817604-67817624, 67817681-67817683, 67817701-67817704, 67817712, 67817720, 67817963-67818011, 67818023-67818031, 67818091-67818102, 67818106
117LRP5110.90924092409241440484868080183-68080273, 68131215-68131222, 68131241-68131263, 68131360-68131390, 68154043, 68154101-68154103, 68154178-68154180, 68174266, 68177477-68177488, 68177508-68177537, 68178916-68178924, 68181219-68181222, 68183815-68183823, 68191099, 68193611, 68197149-68197154, 68201155-68201192, 68201223-68201255, 68201260, 68205947-68205950, 68205988, 68207245-68207251, 68207272-68207274, 68207279, 68207286, 68207311-68207314, 68207343-68207378, 68213957-68213970, 68213999-68214000, 68216298-68216310, 68216353-68216357, 68216437-68216476, 68216505, 68216510-68216511, 68216516
118CPT1A110.997416020671836232268552287-68552289, 68552309-68552311
119IGHMBP2110.9825620389000752298268671421-68671424, 68671468-68671489, 68704088, 68704364, 68704456-68704458, 68704526-68704546
120DHCR7110.9642857142857151142871146425-71146426, 71146533-71146537, 71146573-71146581, 71146641, 71146646-71146657, 71146660-71146663, 71146690-71146703, 71146849, 71146852, 71148926-71148927
121MYO7A110.693592057761732037664876858875, 76858903-76858904, 76858911-76858913, 76858932-76858963, 76867054-76867068, 76867792-76867797, 76867808, 76867819-76867820, 76867966, 76867992-76867996, 76868016-76868021, 76868023-76868032, 76868040, 76873346, 76873349, 76873899-76873904, 76874002-76874016, 76883817-76883873, 76883892-76883931, 76885802-76885960, 76886418-76886479, 76886496-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892452, 76892462-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895737, 76895756-76895760, 76900389-76900416, 76900439, 76900489, 76900503, 76900511-76900515, 76901065-76901076, 76901123-76901184, 76901774-76901833, 76901859-76901870, 76901898-76901915, 76903127, 76903208-76903235, 76903256-76903274, 76903284-76903294, 76908613-76908617, 76909575-76909593, 76909649-76909666, 76912535-76912537, 76919505-76919507
122DRD2110.98948948948949141332113281449-113281450, 113283278-113283282, 113283312-113283318
123APOA1110.9639303482587129804116706621-116706624, 116706678-116706685, 116706709-116706714, 116706747, 116706761, 116706798-116706804, 116706897, 116707122
124FXYD2110.9611872146118717438117693251, 117693255, 117693277, 117693292, 117695371-117695379, 117695390-117695393
125SCN4B110.982532751091712687118023357-118023368
126HMBS110.9981583793738521086118955750-118955751
127TECTA110.982521268368141136465120983832-120983849, 120984334-120984335, 120984339, 120989061-120989068, 120989128-120989135, 120989159-120989194, 120989233, 120989332-120989335, 120989384-120989409, 120996198-120996203, 120996250-120996251, 120996318
128ROBO3110.99615477048786164161124735474-124735489
129WNK1120.99804168415163147149862942, 862972-862983, 994808
130CACNA2D4120.988869361452843834141902920, 1906625-1906659, 1906700-1906701
131CACNA1C120.996646852613932265612676891-2676897, 2676939, 2705135, 2794934-2794940, 2800354-2800359
132VWF120.990168206586128384426127891, 6127919, 6127943, 6131925-6131932, 6131955-6131982, 6132003-6132033, 6166042-6166050, 6166099-6166101, 6166109
133SCNN1A120.99954275262917121876457418
134TPI1120.95866666666667317506976731-6976739, 6976748-6976768, 6976831
135ATN1120.99888049258326435737045892-7045894, 7045914
136KRAS120.99824561403509157025380247
137DNM1L120.999095431931252221132866236-32866237
138PKP2120.9928400954653918251433049462-33049477, 33049641-33049642
139COL2A1120.9870071684587858446448370343, 48371856, 48374726-48374734, 48375178-48375179, 48375592, 48377515-48377519, 48379542-48379565, 48380220-48380221, 48398059-48398070, 48398080
140MLL2120.957565908270137051661449420763-49420780, 49424080-49424081, 49424467-49424474, 49425139, 49425297, 49425776-49425804, 49425920-49425930, 49425953-49425957, 49426127, 49426153-49426166, 49426172, 49426286-49426287, 49426354-49426356, 49426527, 49426560-49426598, 49426665-49426755, 49426768-49426791, 49426865, 49426906-49426908, 49426915-49426919, 49426924, 49426928-49426930, 49426957-49426991, 49427015, 49427026-49427034, 49427068, 49427080-49427102, 49427113-49427139, 49427266-49427268, 49427275, 49427293, 49427406-49427409, 49427543-49427551, 49427557-49427563, 49427567, 49427589-49427591, 49430956, 49430965, 49431008, 49431011, 49431089, 49431205-49431210, 49431215-49431222, 49431278-49431323, 49431490-49431503, 49431517-49431552, 49431555-49431559, 49431564, 49431648, 49431761-49431765, 49431783, 49431797-49431846, 49431867-49431892, 49432076, 49432218-49432239, 49432294-49432297, 49432371-49432384, 49432475-49432509, 49432529, 49433008-49433012, 49433085, 49433139, 49433274-49433282, 49433289, 49433318-49433320, 49433323, 49433372-49433376, 49433628, 49434037-49434042, 49434106, 49434947
141TUBA1A120.98464912280702745649522235-49522241
142KRT81120.9505928853754975151852680207, 52683928-52683961, 52684040-52684054, 52684059-52684060, 52684063, 52685061-52685073, 52685127-52685128, 52685134, 52685172-52685177
143KRT86120.9425051334702384146152695851-52695879, 52696893-52696915, 52697002-52697030, 52702192-52702194
144KRT5120.9937958262831411177352908888-52908892, 52908895-52908900
145TSFM120.99795501022495297858176947, 58190185
146UNG120.9702760084925728942109535550-109535571, 109535582, 109535613-109535616, 109547703
147MVK120.9974811083123431191110034237, 110034288-110034289
148TRPV4120.949159021406731332616110221452-110221454, 110222142, 110224541, 110230593, 110236419-110236425, 110236468, 110236533-110236551, 110236571-110236582, 110236592-110236599, 110238456, 110238462, 110240872-110240909, 110246115, 110246170-110246208
149ATP2A2120.9964844998402113129110719596-110719606
150ATXN2120.836377473363776453942111891489-111891490, 111891498, 111894011, 112036588-112036830, 112036858-112037157, 112037194-112037238, 112037266-112037318
151SDS120.998986828774061987113835108
152HNF1A120.98628691983122261896121434195-121434200, 121437139-121437143, 121437323-121437325, 121437363-121437366, 121437399, 121438930-121438936
153HPD120.95008460236887591182122277854-122277859, 122286943-122286953, 122292660, 122292673, 122294264-122294303
154PUS1120.88161993769471521284132414268-132414281, 132414322-132414329, 132414455-132414457, 132414464-132414495, 132414505-132414543, 132414557-132414564, 132425971-132425993, 132426099, 132426108, 132426145-132426151, 132426260, 132426350, 132426359, 132426413, 132426417, 132426421, 132426475-132426480, 132426497-132426500
155SACS130.9998544395924321374023949269-23949270
156B3GALTL130.9732798931195740149731774222-31774261
157BRCA2130.99863507848299141025732954269-32954282
158FREM2130.999684542586753951039261568-39261570
159SLC25A15130.99227373068433790641382658-41382664
160RB1130.999641191245071278748878114
161SLITRK1130.999521759923481209184453759
162ZIC2130.55096935584747181599100634326-100634348, 100634371-100634433, 100634442-100634451, 100634469-100634495, 100634522-100634531, 100634547, 100634561, 100634567, 100634594-100634604, 100634634-100634656, 100634689-100634725, 100634743-100634768, 100634779, 100634817-100634818, 100634832-100634859, 100634862-100634863, 100634888-100634905, 100634909-100634911, 100634914-100634918, 100634931-100634959, 100635004-100635080, 100635194-100635200, 100637290-100637317, 100637643-100637896, 100637906-100637936
163COL4A1130.99481037924152265010110959318, 110959325, 110959330-110959353
164F7130.1880149812734110841335113760156-113760219, 113765004-113765164, 113768074, 113768167-113768182, 113768205-113768252, 113769974-113770052, 113770056-113770058, 113770070, 113770089-113770092, 113770100-113770101, 113771787-113771910, 113772727-113772989, 113772995-113773276, 113773287-113773322
165F10130.839809134287662351467113777170-113777171, 113777186-113777190, 113777204-113777234, 113798225-113798233, 113798283, 113798336, 113798342, 113798347-113798358, 113798368, 113798375, 113798404-113798409, 113803230-113803261, 113803271-113803285, 113803309-113803354, 113803401-113803404, 113803407-113803409, 113803412, 113803482, 113803533-113803563, 113803571-113803574, 113803663-113803667, 113803675-113803686, 113803694-113803703, 113803706
166GRK1130.97281323877069461692114321784-114321803, 114325858, 114325869-114325873, 114325946-114325961, 114325969, 114426090-114426092
167TEP1140.999873160832061788420844385
168SLC7A7140.999348958333331153623282187
169PABPN1140.99674267100977392123790703-23790705
170MYH6140.9829896907216599582023853853, 23858124, 23858215-23858216, 23863308-23863310, 23863320, 23865514-23865515, 23867954-23867972, 23868072-23868075, 23869544-23869564, 23869981, 23871795, 23871967-23872009
171MYH7140.998966942148766580823883034-23883035, 23889179-23889181, 23894010
172NRL140.90476190476196871424550539, 24550543, 24550554-24550563, 24550609-24550647, 24550695, 24550700-24550707, 24551802-24551808, 24551815
173TINF2140.995575221238946135624711485-24711486, 24711495-24711498
174TGM1140.93357783211084163245424723366-24723372, 24723405, 24723442-24723447, 24723483-24723484, 24724002-24724004, 24724241, 24724309-24724333, 24724412-24724421, 24724642, 24724705-24724723, 24727778-24727783, 24727789-24727793, 24728406, 24728915-24728922, 24728946, 24728949, 24729006, 24729215-24729216, 24729839, 24731000-24731006, 24731436-24731490
175FOXG1140.79387755102041303147029236586, 29236661-29236731, 29236741-29236742, 29236746, 29236755-29236965, 29237047-29237063
176CFL2140.9940119760479350135183744-35183746
177NKX2-1140.9684908789386438120636986709, 36986826, 36986836, 36986893-36986916, 36988372, 36988378-36988387
178PAX9140.993177387914237102637132417-37132423
179C14orf104140.9729514717581568251450100332, 50100335, 50100689, 50100831, 50100855-50100859, 50100981, 50100986, 50101211-50101217, 50101257-50101271, 50101350, 50101440-50101471, 50101752, 50101755
180GCH1140.981407702523241475355369252-55369265
181PSEN1140.999287749287751140473678614
182VSX2140.9567219152854547108674706408-74706444, 74706454, 74706458-74706466
183EIF2B2140.999053030303031105675471544
184FLVCR2140.999367488931061158176045524
185POMT2140.9596094096759991225377744805, 77745192-77745197, 77786818, 77786822-77786832, 77786844-77786852, 77786878-77786883, 77786936-77786992
186GALC140.999514091350831205888459434
187ATXN3140.99631675874774108692537354-92537357
188AMN140.04111600587371513061362103389026-103389068, 103390064-103390068, 103390072-103390077, 103390085-103390166, 103390286-103390300, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
189INF2140.205629793750105167703-105167787, 105167803-105168093, 105169442-105169557, 105169632-105169676, 105169714-105169791, 105170253-105170286, 105172372-105172456, 105172462-105172473, 105173269-105173307, 105173325-105173326, 105173329-105173362, 105173371, 105173375-105173377, 105173594-105173599, 105173624-105173664, 105173674-105173700, 105173708-105173822, 105173856-105174339, 105174773-105174866, 105174878-105174880, 105174886-105174924, 105175008-105175025, 105175060-105175067, 105175618-105175627, 105175640-105175644, 105175715-105175720, 105175957-105176034, 105176425-105176492, 105176500-105176525, 105177274-105177282, 105177315-105177318, 105177321-105177323, 105177339-105177344, 105177416-105177523, 105177966-105178036, 105178776-105178831, 105178856-105178887, 105179165-105179166, 105179172, 105179175-105179178, 105179182-105179188, 105179194, 105179201-105179223, 105179240, 105179244-105179289, 105179313-105179328, 105179551, 105179557-105179569, 105179578-105179646, 105179782-105179799, 105179807-105179943, 105180540-105180582, 105180593-105180659, 105180678-105180703, 105180706-105180708, 105180719, 105180735-105180745, 105180755-105180757, 105180761, 105180775-105180780, 105180827-105180867, 105180875-105180952, 105180963-105180982, 105180992-105181114, 105181127, 105181157-105181193, 105181621-105181657
190NIPA1150.8202020202020217899023086234-23086411
191UBE3A150.9920091324200921262825615777-25615783, 25616251-25616257, 25616620-25616626
192OCA2150.998808104886773251728273150-28273152
193IVD150.996877439500394128140698042-40698044, 40698047
194CHST14150.9213085764809989113140763416-40763449, 40763452-40763455, 40763466-40763470, 40763498-40763503, 40763505-40763512, 40763527-40763539, 40763542-40763554, 40763581-40763584, 40763822-40763823
195CDAN1150.9736699239956697368443021790, 43028648, 43028667-43028686, 43028760-43028801, 43029236, 43029269-43029300
196STRC150.990803303303349532843893730-43893737, 43910863-43910903
197DUOX2150.9913922961050140464745403310, 45403346, 45403354, 45403358, 45403375-45403401, 45403637, 45403724-45403731
198GATM150.996855345911954127245670616-45670619
199CLN6150.964743589743593393668500488-68500494, 68503630-68503632, 68521863-68521885
200HEXA150.993710691823910159072668086, 72668118-72668125, 72668310
201HCN4150.7984496124031728361273614899-73614903, 73614907, 73614995-73615003, 73615013, 73615165-73615169, 73615896-73615912, 73616201-73616202, 73659827-73659833, 73659858, 73659866-73659867, 73659879-73659880, 73659886, 73659921-73659957, 73659965-73660479, 73660489-73660611
202PSTPIP1150.076738609112711155125177310489-77310589, 77310798-77310839, 77310848-77310872, 77317646-77317652, 77317658-77317659, 77317839-77317896, 77317915-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321907, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
203RPS17150.99754901960784140882823390
204RPS17150.99754901960784140883207733
205POLG150.9935483870967724372089872043, 89876678, 89876824-89876841, 89876852-89876855
206MESP2150.75795644891122289119490319589-90319599, 90319614-90319643, 90319737-90319744, 90319766-90319788, 90319824-90319896, 90319915, 90319936, 90319947-90319989, 90320099-90320116, 90320135-90320172, 90320206-90320211, 90320233-90320261, 90320373-90320375, 90320381, 90320478, 90320481-90320483
207BLM150.999059708509644425491337559-91337562
208IGF1R150.999756335282651410499192872
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217PKD116012912129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
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219MEFV160.99658994032396823463304680, 3306424-3306430
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221CREBBP160.9474689589302838573293777757-3777804, 3777960-3777961, 3777964, 3778055, 3778113, 3778169, 3778245-3778246, 3778287, 3778290-3778314, 3778356-3778379, 3778439, 3778445-3778457, 3778584-3778585, 3778614-3778642, 3778680-3778696, 3778844, 3778890-3778941, 3778997, 3779001-3779004, 3779015, 3779043, 3779068-3779073, 3779126-3779163, 3779176-3779177, 3779371-3779415, 3779442, 3779472-3779485, 3779491, 3779698-3779746, 3929904
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223ALG1160.8508960573476720813955128822-5128879, 5129766-5129774, 5130949-5130990, 5131019-5131057, 5132590, 5132636, 5134751-5134758, 5134802-5134832, 5134864-5134882
224MYH11160.999831649831651594015829227
225ABCC6160.79499113475177925451216244081-16244086, 16255302-16255367, 16255378, 16255393-16255421, 16256859, 16256868-16256870, 16256893-16256906, 16256937-16257010, 16257039-16257049, 16259480-16259610, 16259622-16259666, 16259676-16259790, 16263506-16263570, 16263585-16263710, 16267143-16267215, 16267242-16267261, 16269798, 16269805-16269830, 16271357, 16271368-16271383, 16271416-16271418, 16271424-16271483, 16272670, 16272673-16272674, 16272756, 16272813-16272822, 16276420-16276431, 16281054, 16284036, 16284156-16284162, 16291949-16291951
226UMOD160.997919916796674192320360301-20360304
227OTOA160.999707602339181342021696628
228SCNN1B160.998959958398342192323391910, 23392073
229CLN3160.9855732725892219131728497673-28497675, 28497709-28497712, 28497725, 28497789-28497790, 28499942-28499949, 28500653
230TUFM160.9926900584795310136828857292, 28857387, 28857426, 28857556-28857561, 28857589
231ATP2A1160.9830339321357351300628895897-28895898, 28895965-28895976, 28898520-28898525, 28898746-28898752, 28898856, 28898864-28898868, 28898926-28898933, 28911902, 28912157-28912163, 28912172, 28913207
232PHKG2160.9729729729729733122130760146, 30760149, 30760160-30760182, 30760188, 30760199-30760201, 30760233-30760235, 30768379
233VKORC1160.98170731707317949231102648, 31105950-31105951, 31105954, 31105968, 31106009-31106012
234FUS160.998102466793173158131195279, 31195601, 31195661
235SLC5A2160.9722634967805856201931494516-31494520, 31494526-31494529, 31494547-31494555, 31499799-31499806, 31500043-31500071, 31500078
236SALL1160.999245283018873397551175656-51175658
237MMP2160.995965708522448198355513477-55513484
238SLC12A3160.90914969285483281309356899211-56899251, 56901018-56901022, 56904549, 56906568-56906579, 56912000-56912006, 56912013, 56912034, 56912061-56912062, 56913094-56913119, 56914128-56914129, 56918087-56918097, 56919184, 56919232-56919233, 56920879-56920903, 56920969-56920990, 56920998, 56921837, 56921872-56921943, 56924197-56924241, 56936391-56936393
239GPR56160.9728682170542656206457687984-57687990, 57689311-57689333, 57690434, 57695622-57695636, 57695649-57695651, 57695679-57695684, 57695691
240CNGB1160.9869542066027749375657983261-57983300, 57996896-57996904
241TK2160.99134199134199892466583962-66583968, 66583972
242HSD11B2160.77504105090312274121867465152-67465401, 67465407-67465416, 67469641, 67469994-67469998, 67470009-67470012, 67470271-67470273, 67470906
243LCAT160.5328798185941618132367973814, 67973825-67973873, 67973893-67973907, 67973935-67974080, 67974101-67974108, 67974128-67974150, 67974178-67974236, 67974242-67974249, 67974253, 67974281-67974316, 67974356-67974358, 67974369-67974377, 67976394-67976444, 67976471-67976485, 67976574-67976588, 67976617-67976618, 67976621, 67976631-67976669, 67976771-67976798, 67976808-67976821, 67976963-67977036, 67977079-67977084, 67977088-67977090, 67977108-67977115, 67977876, 67977945, 67977978, 67977986
244CDH3160.9943775100401614249068679313-68679324, 68679645, 68725756
245CDH1160.997734994337496264968771319-68771324
246COG8160.91190864600326162183969364742-69364801, 69364820-69364867, 69364950-69364952, 69366737, 69373124-69373136, 69373213-69373235, 69373305-69373306, 69373324-69373328, 69373369-69373375
247AARS160.99690402476789290770298882-70298883, 70301630, 70302213, 70303662, 70316613-70316616
248HP160.994266994266997122172094347-72094353
249GCSH160.840996168582388352281129736-81129742, 81129749-81129752, 81129765-81129767, 81129772-81129778, 81129801-81129850, 81129861, 81129873-81129883
250GAN160.9721293199554150179481348733-81348780, 81348872, 81348885
251MLYCD160.92037786774629118148283932853, 83932889-83932932, 83932971-83932977, 83932984-83932990, 83932992, 83932998-83933013, 83933059, 83933075, 83933085-83933118, 83933120, 83933151-83933153, 83933169, 83933182
252FOXF1160.75964912280702274114086544206-86544226, 86544232, 86544238, 86544241, 86544248-86544251, 86544253-86544256, 86544297-86544315, 86544362-86544386, 86544409-86544415, 86544525-86544542, 86544583-86544602, 86544623-86544658, 86544681-86544749, 86544769, 86544847, 86544898-86544932, 86544941, 86544962, 86545090-86545097, 86545146
253FOXC2160.73970783532537392150686601028-86601036, 86601102-86601108, 86601199, 86601228, 86601257-86601265, 86601329, 86601347-86601355, 86601434-86601443, 86601492-86601515, 86601549-86601556, 86601618-86601641, 86601651-86601692, 86601706-86601728, 86601768-86601818, 86601824-86601869, 86601879, 86601918, 86601922-86601928, 86601965-86601976, 86601981-86602005, 86602150-86602180, 86602191-86602238, 86602307-86602308
254JPH3160.488651535380511149224787636762-87636772, 87636843, 87636846-87636860, 87636868-87636889, 87636931-87636959, 87636990-87637013, 87637046-87637061, 87637116-87637121, 87677904-87677931, 87677954-87677957, 87678014, 87678029-87678031, 87678035, 87678064-87678093, 87678131-87678161, 87678165, 87678211, 87678235, 87678238-87678240, 87678243-87678255, 87678282-87678299, 87678312-87678318, 87678337-87678347, 87678379-87678416, 87678457-87678465, 87678476-87678502, 87678562-87678564, 87678576-87678594, 87678601-87678641, 87717756, 87717770-87717816, 87717844-87717872, 87723271-87723278, 87723281-87723289, 87723302-87723379, 87723396-87723469, 87723479-87723482, 87723493-87723496, 87723501-87723503, 87723506, 87723528, 87723533-87723587, 87723605-87723635, 87723646-87723668, 87723683-87723686, 87723693-87723694, 87723710-87723840, 87723856-87723991, 87723999-87724028, 87724040-87724041, 87724052, 87724065-87724076, 87724084-87724132
255CYBA160.2244897959183745658888709761-88709979, 88712566-88712605, 88713163-88713176, 88713187-88713213, 88713225-88713246, 88713509-88713545, 88713551, 88713567-88713573, 88714453-88714463, 88714503-88714522, 88717364-88717421
256APRT160.06998158379373950554388876108, 88876112-88876161, 88876176-88876248, 88876478-88876556, 88876831-88876871, 88876880, 88876892-88876964, 88877958-88878064, 88878228-88878307
257GALNS160.61376673040153606156988880847-88880867, 88880881, 88880884, 88880895, 88880915-88880917, 88880923-88880924, 88884415-88884532, 88888997-88889055, 88889061-88889118, 88891181-88891231, 88891243, 88891264-88891274, 88891277, 88893120-88893125, 88893153, 88893158-88893159, 88893182-88893193, 88893211-88893215, 88893222-88893236, 88898406-88898424, 88901635-88901666, 88901734-88901736, 88902183, 88902252, 88904031-88904049, 88907400-88907407, 88907411-88907412, 88907419-88907424, 88907431, 88907437-88907444, 88907466-88907473, 88907494-88907502, 88908306, 88908338-88908339, 88909137, 88909151, 88909168, 88909182-88909190, 88909221-88909237, 88923166-88923224, 88923232-88923246, 88923272-88923285
258SPG7160.92881072026801170238889574826-89574835, 89574861-89574869, 89574953-89574962, 89574969, 89574988-89574993, 89598342-89598344, 89598350, 89598364-89598368, 89598390, 89598940-89598959, 89613163-89613168, 89614439-89614442, 89614458-89614466, 89619429, 89620321, 89620341-89620368, 89620899-89620907, 89620919-89620953, 89623314-89623319, 89623428-89623430, 89623437, 89623474
259FANCA160.96314102564103161436889805046, 89805114, 89805328-89805334, 89805920-89805942, 89836418, 89837020-89837028, 89838107-89838110, 89839753-89839772, 89842162-89842182, 89842202-89842206, 89882945-89882971, 89882980-89883021
260TUBB3160.59645232815965546135389989810-89989813, 89989829-89989866, 89999009-89999031, 89999056, 89999980, 90001141-90001153, 90001231, 90001398, 90001408-90001411, 90001417, 90001421, 90001424-90001427, 90001431-90001436, 90001450-90001486, 90001504, 90001511-90001526, 90001554-90001556, 90001639-90001649, 90001663-90001903, 90001917-90001945, 90001970-90001993, 90002027-90002084, 90002122-90002135, 90002177, 90002191-90002203
261PRPF8170.992151826484025570081557082-1557086, 1557099, 1557103, 1557107, 1557224-1557238, 1587766-1587794, 1587822-1587824
262CTNS170.8902743142144613212033559781-3559797, 3559823, 3560000-3560065, 3561299-3561316, 3561385, 3561395-3561396, 3563164, 3563538-3563547, 3563913, 3563916, 3563984-3563997
263CHRNE170.700404858299644414824802065-4802099, 4802148-4802186, 4802325, 4802328-4802383, 4802510-4802512, 4802537-4802548, 4802555-4802560, 4802580, 4802587-4802635, 4802638-4802643, 4802655-4802678, 4802763-4802786, 4802824-4802864, 4804088-4804100, 4804117-4804132, 4804179-4804198, 4804285-4804290, 4804395-4804401, 4804426-4804485, 4805326-4805335, 4805340, 4805363-4805364, 4805367-4805370, 4805606-4805607, 4805618, 4806314, 4806355-4806358
264GP1BA170.99947916666667119204837156
265PITPNM3170.841709401709446329256358658-6358813, 6358838-6358861, 6358899-6358901, 6358917-6358963, 6364699, 6364753-6364755, 6364786, 6367534, 6367540, 6367550, 6373580-6373590, 6373719-6373728, 6374546-6374575, 6374660-6374675, 6376063-6376065, 6376087-6376089, 6376092-6376095, 6377808-6377833, 6377862-6377867, 6377871-6377886, 6377896, 6377910-6377924, 6380441-6380455, 6380488-6380503, 6381296, 6381300-6381314, 6381397, 6381871, 6381978-6381981, 6382053-6382056, 6386858, 6386922, 6386925, 6387065-6387066, 6459705-6459726
266ACADVL170.973577235772365219687123312-7123320, 7123331-7123343, 7125271-7125278, 7125329-7125338, 7126975, 7127975-7127985
267CHRNB1170.944223107569728415067348454-7348468, 7348494-7348504, 7348589, 7348592, 7348625, 7348633-7348637, 7348684-7348685, 7348715-7348728, 7350208-7350214, 7350839-7350840, 7359244-7359260, 7359924, 7359998-7360004
268GUCY2D170.9522946859903415833127906386-7906388, 7906408-7906424, 7906434-7906438, 7906449, 7906452, 7906457, 7906496, 7906523-7906529, 7906583-7906586, 7906597-7906625, 7906644-7906666, 7906719-7906731, 7906823-7906862, 7906916, 7907194-7907205
269ALOX12B170.974833808167145321067982714-7982721, 7982793-7982803, 7982844, 7983092-7983121, 7983218, 7983992, 7984495
270ALOXE3170.995318352059931021368013243-8013251, 8013305
271HES7170.87610619469027846788024897-8024903, 8024967-8025008, 8025014, 8025078-8025100, 8025107-8025110, 8025159, 8025167, 8025182, 8025212, 8025229, 8025259, 8025661
272MYH3170.999313068864854582310555873-10555876
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385PNKP190.9591315453384464156650364610-50364622, 50365633-50365651, 50365656-50365667, 50365805-50365807, 50370411-50370424, 50370451, 50370456, 50370460
386MYH14190.98052691867125119611150714026, 50727434, 50747519, 50747522, 50747558, 50752956-50752962, 50753778, 50753932-50753933, 50762427-50762434, 50764732-50764735, 50764783, 50764849-50764890, 50766592-50766615, 50766626, 50766642-50766651, 50766659-50766660, 50770213-50770224
387KCNC3190.70712401055409666227450823532-50823536, 50823548-50823570, 50823590-50823591, 50823595-50823601, 50826264-50826269, 50826314-50826322, 50826330-50826337, 50826365-50826380, 50826397-50826479, 50826595-50826639, 50826690-50826693, 50826909-50826917, 50831496-50831497, 50831549-50831556, 50831580-50831587, 50831641-50831667, 50831764-50831767, 50831783-50831795, 50831871-50831898, 50831927-50831941, 50831950-50832024, 50832038-50832044, 50832078-50832339
388ETFB190.9836695485110517104151857648-51857664
389NLRP12190.83490269930948526318654297303-54297311, 54297331-54297341, 54299283, 54301497-54301503, 54301559-54301612, 54301648-54301667, 54304521-54304527, 54304533-54304563, 54304618-54304651, 54307322, 54307327, 54307353-54307354, 54310830-54310851, 54310894-54310902, 54310919, 54312871-54312895, 54312899, 54312950-54312982, 54313037-54313055, 54313065, 54313072-54313090, 54313093, 54313113-54313131, 54313287, 54313315-54313360, 54313598-54313604, 54313633-54313641, 54313664-54313676, 54313679, 54313788-54313796, 54313851-54313872, 54313971-54313977, 54314003-54314027, 54314101-54314105, 54314166-54314185, 54314299, 54314421-54314452
390PRKCG190.9823304680038237209454392920-54392936, 54392968-54392970, 54401777-54401791, 54409662, 54409979
391PRPF31190.55333333333333670150054621659, 54621699-54621700, 54621705-54621717, 54621970-54621991, 54625239-54625267, 54625876-54625883, 54625955, 54626840, 54626882-54626888, 54626921-54626926, 54626929, 54626932, 54627140-54627163, 54627170-54627171, 54627259-54627276, 54627886, 54627889-54627895, 54627927-54627974, 54628003-54628021, 54629903-54629910, 54629928-54629940, 54629953, 54629957, 54629964, 54629969-54629975, 54631448-54631454, 54631470-54631513, 54631519-54631575, 54631680-54631752, 54632432-54632549, 54632560, 54632647-54632730, 54634738-54634748, 54634778-54634795, 54634814-54634824, 54634831-54634833, 54634858
392TSEN34190.986066452304391393354695345-54695350, 54695361-54695364, 54695412-54695414
393NLRP7190.999678869621071311455450979
394TNNT1190.8428390367553912478955644297-55644300, 55644318, 55644325-55644328, 55645255-55645273, 55648510, 55649383, 55649419-55649442, 55652261-55652304, 55652320, 55652626-55652635, 55653268-55653273, 55658064-55658072
395TNNI3190.893267651888346560955667638-55667660, 55667687-55667700, 55668430-55668457
396TPO20.9032833690221327128021480858-1480859, 1481007-1481010, 1481090-1481099, 1481165, 1481211-1481228, 1481231, 1481277-1481278, 1481353, 1497674-1497685, 1507821, 1520655-1520722, 1520740-1520754, 1544374-1544377, 1544386-1544495, 1546214, 1546217-1546218, 1546223-1546241
397KLF1120.9727095516569242153910183844-10183885
398MYCN20.994265232974918139516082313, 16082550-16082552, 16082821, 16082824-16082825, 16082834
399POMC20.962686567164183080425384110-25384111, 25384134, 25384146-25384147, 25384324, 25384427, 25384453-25384468, 25384471, 25384474-25384479
400OTOF20.85318651985319880599426684749, 26687752, 26695404-26695405, 26695409-26695414, 26695418-26695422, 26696888-26696937, 26696954-26696961, 26696973-26696978, 26697381-26697452, 26697471, 26697475-26697489, 26697541-26697542, 26698348-26698361, 26698794-26698809, 26698846-26698874, 26698996-26699000, 26699008-26699012, 26699019-26699022, 26699037-26699052, 26699058-26699067, 26699759-26699911, 26700054, 26700063, 26700080-26700083, 26700086-26700110, 26700112, 26700126-26700156, 26700284-26700297, 26700318-26700345, 26700364, 26700517-26700559, 26700582-26700617, 26702146-26702154, 26702192-26702195, 26702219-26702235, 26702347, 26702350-26702371, 26702400, 26702412-26702434, 26702449-26702490, 26703669-26703693, 26703718-26703748, 26703757, 26703800-26703807, 26703829, 26703841, 26705274-26705300, 26705303-26705304, 26705344, 26705429-26705451, 26705459-26705460, 26706376, 26707360, 26707375-26707389, 26707395-26707402, 26707461, 26712143, 26712604-26712608, 26741961
401ALK20.996709849886916486330143507-30143522
402SPAST20.990275526742318185132289002-32289005, 32289061-32289065, 32289077, 32289086-32289090, 32289139-32289140, 32289171
403CYP1B120.9522058823529478163238301865, 38301978-38301985, 38302014-38302039, 38302173-38302192, 38302203, 38302249-38302255, 38302286-38302287, 38302334-38302345, 38302437
404ABCG520.986196319018427195644058935-44058941, 44059184-44059203
405ABCG820.90356083086053195202244099165, 44099178, 44099190-44099203, 44099215-44099253, 44099261-44099272, 44099362, 44099388-44099445, 44100975-44100988, 44101113, 44101589-44101622, 44102409, 44102477-44102483, 44102532, 44102535-44102545
406SIX320.996996996997399945169639-45169640, 45169789
407EPCAM20.987301587301591294547596645-47596652, 47596691-47596694
408MSH220.9878787878787934280547630441-47630474
409MSH620.96840558412932129408348010373-48010382, 48010409-48010501, 48010518, 48010521-48010526, 48010532-48010536, 48010540, 48010544, 48010549, 48010622-48010632
410LHCGR20.999523809523811210048982764
411ATP6V1B120.995460440985737154271192089, 71192220, 71192233-71192234, 71192246-71192248
412DYSF20.97578616352201154636071797797-71797834, 71801436-71801438, 71801458, 71825700, 71825744-71825749, 71825778-71825818, 71825867-71825875, 71827911-71827920, 71829926-71829935, 71838597-71838601, 71838699, 71839792-71839808, 71839909-71839919, 71847725
413SPR20.829516539440213478673114562-73114567, 73114608, 73114612-73114618, 73114621, 73114645-73114718, 73114791, 73114794, 73114801, 73114811-73114812, 73114815, 73114827-73114865
414ALMS120.9993602047344881250473827996-73828002, 73828342
415MOGS20.92402545743835191251474688945-74688952, 74689277, 74691638-74691657, 74692094-74692139, 74692223-74692308, 74692337-74692366
416GGCX20.9863855950812531227785788025, 85788096-85788104, 85788509-85788528, 85788531
417SFTPB20.999127399650961114685890921
418REEP120.99174917491749560686564615-86564619
419EIF2AK320.9949268874962717335188926730-88926735, 88926740-88926749, 88926775
420TMEM12720.8493723849372410871796930884, 96930968-96930994, 96931007-96931028, 96931038-96931095
421ZAP7020.9569892473118380186098340517, 98340526-98340535, 98340550, 98340582-98340609, 98340833-98340857, 98349409, 98349776, 98351878-98351890
422CNGA320.997601918465235208598996807-98996810, 98996816
423RANBP220.971576227390182759675109336063-109336088, 109347230, 109347928-109347930, 109357110-109357116, 109363251-109363254, 109368034, 109368074-109368115, 109370343-109370350, 109371385-109371402, 109371632-109371662, 109374947-109374987, 109378557-109378558, 109378582-109378628, 109383250-109383274, 109383668-109383678, 109383983, 109384628-109384634
424MERTK20.994183000112656313-112656330
425PAX820.9992609016999311353113994208
426GLI220.945179584120982614761121708819, 121708844, 121708882, 121708920, 121712915-121712918, 121712964-121712981, 121728128, 121729539-121729548, 121742273, 121742278-121742280, 121742283, 121742295, 121746026-121746029, 121746050, 121746079-121746122, 121746149-121746164, 121746181, 121746185-121746207, 121746233-121746253, 121746267-121746297, 121746322, 121746337, 121746359-121746360, 121746374, 121746426-121746447, 121746535, 121746549, 121746560-121746561, 121746596-121746617, 121747319, 121747343-121747352, 121747404-121747406, 121747465-121747471, 121747668, 121747677, 121747801
427BIN120.99270482603816131782127808055-127808057, 127808775, 127828155, 127834276, 127864438, 127864442-127864443, 127864499-127864502
428PROC20.97546897546898341386128180660-128180662, 128180667-128180671, 128180676-128180681, 128180698-128180702, 128180707, 128180717, 128180723, 128180733-128180744
429CFC120.80059523809524134672131279422-131279425, 131279629-131279630, 131279649, 131280363-131280402, 131280427-131280477, 131280744-131280755, 131280796-131280813, 131280846, 131285314, 131285357-131285359, 131285368
430RAB3GAP120.9993211133740722946135888281, 135888285
431NEB20.99989986983078219974152432675, 152432786
432ITGA620.9969474969475103276173292517-173292523, 173292534, 173292538, 173292668
433HOXD1320.892441860465121111032176957627-176957629, 176957654-176957689, 176957711-176957713, 176957725-176957733, 176957776-176957813, 176957822, 176957826-176957828, 176957831-176957833, 176957964-176957965, 176957980-176957986, 176957997, 176958011-176958015
434CERKL20.9993746091307111599182468634
435HSPD120.9994192799070811722198351879
436PNKD20.9974093264248731158219135289-219135291
437CYP27A120.9993734335839611596219679748
438WNT10A20.97049441786284371254219745718-219745729, 219745752, 219745761-219745777, 219757557, 219757565, 219757608, 219757618, 219757763, 219757793-219757794
439DES20.873319179051661791413220283196-220283219, 220283259-220283323, 220283359-220283363, 220283447, 220283450, 220283470-220283489, 220283573-220283615, 220283653-220283654, 220283657, 220283700-220283701, 220283704-220283718
440OBSL120.941135125636973355691220416834-220416835, 220417275-220417280, 220417303-220417338, 220417367-220417397, 220417408-220417419, 220417610-220417617, 220417645-220417668, 220417709-220417716, 220435395-220435397, 220435515-220435527, 220435537, 220435589-220435595, 220435635-220435683, 220435693-220435716, 220435738-220435778, 220435797-220435812, 220435816-220435819, 220435861-220435880, 220435905-220435934
441CHRND20.94272844272844891554233390926-233390941, 233390944-233390945, 233390956-233390969, 233391252-233391268, 233394654-233394675, 233394686-233394695, 233394706, 233396260, 233396268, 233398814, 233398836-233398839
442COL6A320.9996853366897439534238303235, 238303490-238303491
443AGXT20.93808312128923731179241808283-241808288, 241808291, 241808302-241808318, 241808350-241808364, 241808372-241808374, 241808413, 241808424-241808428, 241810061-241810077, 241810795-241810802
444D2HGDH20.768837803320563621566242674650-242674653, 242674701, 242689590-242689595, 242689643-242689656, 242689667, 242689685-242689691, 242689704-242689709, 242690725-242690769, 242690774, 242695296-242695303, 242695323-242695333, 242695346-242695348, 242695359-242695409, 242695419-242695429, 242707141-242707220, 242707243-242707349, 242707379-242707384
445AVP200.733333333333331324953063321-3063341, 3063344, 3063401-3063403, 3063410-3063411, 3063415, 3063442-3063448, 3063623-3063666, 3063678-3063688, 3063698-3063715, 3063761-3063776, 3063815-3063822
446PANK2200.989492119089321817133870234-3870240, 3870266-3870276
447JAG1200.9822258681979865365710653392-10653397, 10653469, 10653563, 10653567-10653571, 10653574-10653601, 10653622-10653632, 10654111-10654118, 10654174-10654178
448THBD200.997685185185194172823029596-23029599
449SNTA1200.88603425559947173151832000219, 32000222-32000225, 32000381-32000402, 32000417-32000430, 32000471, 32031150-32031170, 32031220, 32031318-32031426
450GDF5200.9754316069057137150634025127-34025156, 34025282, 34025486-34025491
451HNF4A200.997894736842113142543052773-43052775
452ADA200.9560439560439648109243252867, 43255159, 43257755-43257783, 43280226-43280242
453CTSA200.9599198396793660149744520208-44520267
454SALL4200.997469955724238316250408338-50408345
455GNAS200.7127371273712721273857415183-57415184, 57415196-57415213, 57415293-57415328, 57415340-57415378, 57415467-57415475, 57415539, 57415565-57415584, 57415586-57415592, 57415670-57415692, 57415711-57415718, 57415748-57415770, 57415792-57415807, 57415850-57415852, 57415872-57415878
456GNAS200.76364804110469736311457428426-57428440, 57428488-57428494, 57428633, 57428716-57428719, 57428883, 57428893, 57428943-57428958, 57429054-57429103, 57429113-57429134, 57429252-57429260, 57429263, 57429288-57429297, 57429337, 57429352, 57429379-57429491, 57429519-57429729, 57429745-57429775, 57429797-57429818, 57429828-57429867, 57429878-57429879, 57429887-57429905, 57429939, 57429981-57430014, 57430021, 57430045-57430107, 57430183, 57430262-57430282, 57430322-57430351, 57430381-57430388
457COL9A3200.502676399026761022205561448417-61448494, 61448919-61448987, 61449876-61449905, 61450583-61450605, 61450630-61450631, 61451293-61451301, 61451327-61451329, 61451333-61451334, 61452533-61452568, 61452859-61452860, 61453109-61453160, 61453463-61453501, 61453943-61453966, 61455804-61455853, 61456320-61456373, 61457169-61457198, 61457206-61457222, 61457556-61457584, 61457598-61457609, 61458122-61458172, 61458593-61458646, 61459315, 61459318-61459328, 61460116-61460148, 61460275-61460278, 61460301-61460316, 61460807-61460824, 61460980-61461033, 61461118-61461126, 61461167-61461169, 61461712-61461765, 61461869-61461940, 61463506-61463520, 61464372-61464378, 61464405-61464416, 61467290, 61467539-61467540, 61467600, 61467649-61467658, 61467830-61467835, 61468442, 61468489-61468496, 61468571, 61468601-61468617
458CHRNA4200.153927813163481594188461978099-61978173, 61978184, 61978200-61978208, 61978215, 61981005-61981099, 61981104, 61981108, 61981121-61981390, 61981400-61981428, 61981435-61981648, 61981663-61981808, 61981859-61981905, 61981925-61981985, 61981993-61981997, 61982000-61982035, 61982050, 61982061-61982098, 61982121-61982144, 61982150-61982209, 61982215-61982252, 61982309-61982348, 61982361-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
459KCNQ2200.318060328369611786261962037997-62038090, 62038099-62038183, 62038195-62038315, 62038327-62038459, 62038472-62038675, 62038723-62038728, 62039776, 62039779-62039797, 62039827, 62039832, 62039838-62039847, 62039858, 62039865, 62039879, 62039882-62039889, 62044804, 62044825-62044839, 62044876, 62044906, 62045524-62045528, 62046266-62046338, 62046383-62046387, 62046391-62046396, 62046402-62046432, 62050974, 62059720-62059765, 62065186-62065206, 62065235, 62065255, 62069978-62069996, 62070072-62070073, 62070951-62070974, 62071000, 62071009-62071061, 62073759-62073884, 62076012-62076187, 62076591-62076717, 62078100-62078122, 62078132-62078176, 62103521-62103816
460SOX18200.00432900432900431150115562679519-62679686, 62679692-62680315, 62680512-62680869
461APP210.999567661046261231327542937
462IFNGR2210.9270216962524774101434775850-34775922, 34799261
463RCAN1210.901185770750997575935987165-35987182, 35987195-35987196, 35987209-35987211, 35987236-35987286, 35987310
464RUNX1210.9993069993071144336164462
465CLDN14210.901388888888897172037833274-37833292, 37833594-37833605, 37833623-37833624, 37833632, 37833696-37833718, 37833794-37833800, 37833937-37833943
466TMPRSS3210.99780219780223136543796674, 43796694, 43796702
467CBS210.9456521739130490165644476916, 44476925-44476931, 44478947, 44478976-44479010, 44479017-44479042, 44479407-44479408, 44480561-44480564, 44485353-44485354, 44485361, 44485803, 44488689, 44488692-44488693, 44492161-44492167
468CSTB210.858585858585864229745196090-45196131
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516TNNC130.99794238683128148652485854
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519ATXN730.92389006342495216283863898285-63898334, 63898339-63898343, 63898361-63898363, 63898376-63898381, 63898390, 63898404-63898413, 63898423-63898556, 63898588-63898594
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521CPOX30.99780219780223136598311877-98311879
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524NPHP330.99123466065615353993132438621-132438635, 132440991-132441009, 132441059
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526MCCC130.9995408631772312178182804513
527EIF2B530.9990766389658422166183853284-183853285
528ALG330.95216400911162631317183960438-183960444, 183966620-183966663, 183966692, 183966698-183966700, 183966707-183966711, 183966726-183966728
529CLCN230.927326659251021962697184069857-184069867, 184070112-184070119, 184070558-184070562, 184071090-184071122, 184071200-184071202, 184071533-184071538, 184071914, 184071927, 184071950-184071982, 184072012-184072022, 184072064-184072066, 184072074, 184072095-184072101, 184072339-184072352, 184072422-184072426, 184072749-184072756, 184073488-184073496, 184074871, 184074984-184074987, 184075173-184075181, 184075429-184075446, 184075596, 184075599, 184075785, 184076506-184076507
530CPN230.97130647130647471638194061795, 194061803-194061804, 194061808, 194061921-194061922, 194061934-194061963, 194062050, 194062408-194062415, 194062681, 194063095
531PDE6B40.63274853801179422565619474, 619496-619497, 619500, 619507-619539, 619572-619574, 619648, 619651, 619699-619700, 619839-619850, 619882, 629743-629744, 647641-647642, 647649-647663, 647669-647700, 647719-647751, 647765, 647778-647781, 647869-647897, 647906-647923, 647929, 647942-647943, 648613-648656, 648660-648663, 648673-648677, 649743-649781, 650034, 650064-650069, 650663-650694, 650701-650708, 650722-650731, 650734-650746, 650779-650812, 651140-651190, 651224-651283, 652741-652780, 652784, 654286-654311, 654338-654355, 655923-655956, 655965-655993, 656903-656929, 656950-656976, 657580-657633, 657646-657652, 657933, 657997-658001, 658009, 658670-658689, 658716-658721, 659049-659055, 659062-659108, 660320-660354, 660367, 660382-660403, 661748-661754, 663835-663845, 663858-663864, 663885, 663892-663896
532IDUA40.04128440366972518811962980873-981030, 981597-981737, 994400-994479, 994670-994686, 994700, 994717-994777, 995256-995266, 995274-995351, 995467-995669, 995770-995863, 995877-995949, 996057-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997413, 997800-997900, 998048-998104, 998131-998181
533FGFR340.25339925834363181224271795662-1795770, 1800981-1801008, 1801012-1801095, 1801104-1801149, 1801155-1801235, 1801248-1801250, 1801474-1801501, 1801525-1801528, 1803094-1803107, 1803118-1803119, 1803133, 1803142-1803263, 1803347-1803470, 1803562-1803752, 1804655-1804687, 1804711-1804747, 1804761-1804791, 1806069-1806090, 1806099-1806102, 1806120-1806173, 1806212-1806247, 1806555-1806566, 1806625-1806696, 1807082-1807093, 1807099-1807146, 1807156-1807157, 1807168-1807181, 1807186-1807192, 1807289-1807297, 1807306-1807339, 1807377-1807392, 1807477-1807513, 1807522-1807575, 1807609-1807617, 1807660-1807667, 1807778-1807793, 1807799, 1807815, 1807869-1807897, 1807984-1807992, 1808012-1808054, 1808273-1808276, 1808302-1808331, 1808342-1808348, 1808360-1808407, 1808556-1808661, 1808843-1808918, 1808936-1808989
534SH3BP240.9186860527732915118572819957-2819976, 2820014-2820052, 2820060-2820066, 2820084-2820090, 2820096-2820103, 2831386, 2831476, 2831535-2831546, 2831558-2831559, 2831588, 2831683, 2831817, 2833387-2833388, 2833398-2833399, 2834083, 2834086-2834100, 2835523-2835524, 2835530-2835558
535HTT40.9456994379043451294293076595-3076603, 3076604-3076815, 3213804, 3231682, 3231749, 3234910, 3234914, 3234919, 3234945-3234969, 3235047-3235064, 3237019-3237033, 3240218, 3240238-3240252, 3240286-3240325, 3240548-3240551, 3240557-3240566, 3240601, 3240613-3240628, 3240657-3240693, 3240698-3240699, 3241643-3241680, 3241715-3241768, 3241778-3241786
536DOK740.24026402640264115115153465103-3465106, 3465116-3465156, 3465233-3465278, 3475133-3475170, 3475211-3475237, 3475252, 3475255-3475258, 3475264-3475303, 3475309, 3475313-3475314, 3475336-3475363, 3478069-3478116, 3478143-3478191, 3478202-3478204, 3478218, 3478230, 3478241-3478269, 3487267, 3487275-3487277, 3487280-3487297, 3487331-3487371, 3494486-3495189, 3495208-3495228
537DOK7405915913494489-3495079
538MSX140.98355263157895159124861750-4861755, 4861766, 4861856-4861858, 4861904-4861907, 4862089
539EVC240.9982174688057739275710174-5710175, 5710179, 5710182, 5710187, 5710207, 5710210
540EVC40.973816717019137829795713108-5713130, 5713142-5713192, 5713281, 5754733-5754735
541WFS140.9345304900860517526736279183-6279184, 6279261-6279265, 6279342-6279376, 6279404-6279414, 6290829, 6292955, 6293006-6293046, 6293053-6293072, 6293693-6293718, 6303248-6303253, 6303617-6303641, 6303691, 6303694
542CNGA140.998245614035094228047954633-47954636
543CDS140.9898989898989914138685504605-85504618
544PKD240.9824561403508851290788928897-88928923, 88928954-88928973, 88929000-88929003
545MTTP40.9996275605214212685100530009
546CISD240.9117647058823536408103808506-103808522, 103808569-103808587
547MFSD840.97687861271676361557128859972-128859993, 128886231-128886244
548GK40.98375451263538271662166199584-166199610
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550SLC6A1950.46614173228346101719051201766-1201967, 1208861-1208866, 1208869-1208880, 1208892-1208893, 1208915, 1208918, 1208921, 1208929, 1208950-1209001, 1210559-1210615, 1210621-1210626, 1210629-1210630, 1210639-1210696, 1212462-1212505, 1212522-1212591, 1213578-1213688, 1214068-1214180, 1216746-1216752, 1216772-1216801, 1216976-1216978, 1216986, 1217018-1217060, 1219018-1219073, 1219132-1219148, 1219157-1219158, 1219170, 1219174-1219181, 1219209-1219211, 1219220-1219222, 1219620-1219628, 1219644-1219698, 1219710-1219712, 1219716-1219717, 1219744-1219773, 1219778-1219779, 1221385, 1221412, 1221989
551TERT50.43012650779641193733991253870-1253872, 1253885-1253896, 1253924-1253946, 1254483-1254509, 1254521-1254564, 1254576-1254620, 1255452, 1255508, 1258713-1258728, 1258743, 1258748-1258751, 1264519-1264541, 1264558, 1264565-1264578, 1264581, 1264588, 1264596-1264597, 1264655-1264658, 1264677-1264707, 1266579-1266650, 1268635-1268664, 1268681-1268733, 1268742-1268748, 1271234-1271302, 1271317-1271319, 1272300-1272395, 1278778, 1278796-1278797, 1278854-1278906, 1279406-1279407, 1279423-1279451, 1279458-1279585, 1280273-1280309, 1280327-1280373, 1280396-1280426, 1280444-1280453, 1282655, 1282668, 1282716-1282739, 1293428-1293429, 1293461-1293485, 1293513, 1293539-1293557, 1293589-1293595, 1293606-1293654, 1293673-1293684, 1293728-1293749, 1293774-1293812, 1293832-1293872, 1293926, 1293953-1293967, 1293982-1294003, 1294067-1294089, 1294103-1294163, 1294179, 1294206-1294236, 1294263-1294293, 1294322-1294424, 1294447-1294489, 1294527, 1294535-1294550, 1294561-1294562, 1294566, 1294571-1294573, 1294577-1294709, 1294718-1294781, 1294886-1295104
552SLC6A350.8529253891572727418631406321-1406341, 1406366-1406370, 1406379-1406403, 1409141, 1409174-1409180, 1409185, 1409212, 1409216-1409220, 1409889-1409940, 1409949, 1409964, 1411371-1411374, 1414806-1414813, 1414832-1414853, 1414879-1414888, 1420737-1420741, 1420795-1420808, 1422006-1422022, 1422034-1422042, 1422065-1422129
553SDHA50.9724770642201893271593246, 1593266, 1593323-1593329
554NDUFS650.86666666666667503751801532-1801547, 1801557-1801581, 1801607-1801613, 1801662-1801663
555DNAH550.9997837837837831387513810344-13810345, 13916519
556AMACR50.998259355961712114934007922-34007923
557NIPBL50.9986928104575211841537048661-37048663, 37048666-37048673
558SMN250.98192090395481688569362946-69362961
559SMN250.98192090395481688570238370-70238385
560MCCC250.999408983451541169270883290
561GPR9850.99931293272026131892190144567-90144570, 90144574, 90144595-90144602
562LMNB150.848949460533792661761126113201-126113203, 126113207, 126113213-126113214, 126113218-126113220, 126113224-126113237, 126113242-126113259, 126113292-126113414, 126113422-126113440, 126113450-126113507, 126113535-126113559
563FBN250.99839798603959148739127873058-127873070, 127873285
564SLC22A550.99402628434886101674131705947-131705949, 131705953-131705959
565MYOT50.99265197060788111497137221867-137221877
566SIL150.98556998556999201386138282912-138282927, 138283060, 138283100-138283102
567DIAPH150.9994763026970423819140907263-140907264
568TCOF150.98415977961433694356149737334-149737342, 149748369-149748370, 149748373-149748374, 149748409-149748413, 149748450-149748452, 149754353-149754355, 149755458, 149755827, 149758960, 149759096, 149759236-149759242, 149759278-149759281, 149759287-149759291, 149759294, 149767605, 149767650-149767651, 149771707-149771715, 149776104, 149777987-149777993, 149777997-149778000
569NIPAL450.98429693076374221401156887234-156887247, 156887253-156887254, 156887356-156887361
570NKX2-550.991794871794878975172659825-172659829, 172659927-172659928, 172661880
571MSX250.9054726368159276804174151714-174151715, 174151723-174151754, 174151772-174151798, 174151840, 174151869-174151874, 174151879, 174151897-174151899, 174151902-174151905
572F1250.74398625429553149582176829184-176829194, 176829586-176829618, 176830258-176830278, 176830294-176830377
573F1250.591450216450227551848176829586-176829618, 176830258-176830278, 176830294-176830398, 176830482-176830486, 176830494-176830500, 176830503-176830510, 176830544-176830603, 176830860-176830904, 176830910-176830971, 176830976, 176830994-176831006, 176831027-176831091, 176831197-176831364, 176831401-176831414, 176831500-176831520, 176831533-176831545, 176831554-176831561, 176831564-176831577, 176831589-176831590, 176831595-176831598, 176831617-176831651, 176831663-176831665, 176831819-176831850, 176831885, 176831908, 176832333, 176832343-176832353, 176832368, 176832971
574NHP250.9696969696969714462177580559, 177580660-177580663, 177580666-177580671, 177580726-177580727, 177580732
575GRM650.97646165527715622634178413688-178413694, 178421573-178421578, 178421588-178421589, 178421664-178421690, 178421916-178421935
576SQSTM150.830687830687832241323179247937-179248026, 179248035-179248098, 179248104-179248141, 179250000, 179250003-179250004, 179250879, 179250895, 179250898, 179251070-179251077, 179251081, 179251312, 179260140-179260155
577FLT450.2299608993157431514092180038331-180038352, 180038383-180038384, 180038444-180038479, 180039606, 180043368, 180043380, 180043390-180043410, 180043416, 180043431-180043489, 180043927-180043950, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048610, 180048616-180048891, 180049731-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
578FOXC160.5132370637785880916621610681-1610735, 1610741-1610748, 1610757-1610805, 1610814-1610830, 1610835-1610839, 1610842, 1610855-1610889, 1610896-1610900, 1610908-1610931, 1610976, 1610986, 1610991, 1611052-1611060, 1611088-1611114, 1611137-1611202, 1611256-1611346, 1611355-1611370, 1611383-1611509, 1611528, 1611531-1611596, 1611625, 1611634-1611669, 1611676-1611682, 1611695-1611698, 1611705-1611728, 1611737-1611743, 1611783-1611792, 1611798-1611856, 1611887-1611896, 1611925-1611926, 1612001-1612010, 1612018-1612020, 1612033-1612036, 1612040, 1612050-1612053, 1612069-1612070, 1612121-1612132, 1612138-1612145
579TUBB2B60.7982062780269127013383224985-3225018, 3225028-3225059, 3225230-3225247, 3225253-3225303, 3225398, 3225438-3225454, 3225466-3225496, 3225592, 3225718-3225751, 3225919-3225946, 3226430, 3227756-3227777
580DSP60.990831012070577986167542245-7542291, 7585986-7586017
581DTNBP160.9895833333333311105615663070, 15663090-15663099
582ATXN160.9791666666666751244816327432-16327435, 16327865-16327867, 16327882, 16327885-16327909, 16327915-16327918, 16327926-16327939
583HLA-H60.8413333333333311975029855764-29855767, 29855971-29856001, 29856284-29856290, 29856480-29856486, 29856534, 29856630-29856646, 29856679-29856721, 29856747-29856755
584NEU160.9350961538461581124831828240, 31829133, 31829802, 31829833, 31829836-31829843, 31829924-31829938, 31830462-31830503, 31830527-31830538
585TNXB60.81389320891654359192931976397, 31976406, 31976856, 31976929, 31976973, 31977093-31977095, 31977104, 31977171, 31977375, 31977384, 31977498-31977510, 31977523-31977568, 31977581, 31977604-31977637, 31977744, 31977774, 31977778-31977780, 31977787, 31977807-31977808, 31977820, 31977855-31977862, 31977998, 31978010-31978011, 31978014, 31978046, 31978123, 31978259, 31978349-31978361, 31978521-31978547, 31978790, 31979333-31979374, 31979425-31979480, 31979523-31979552, 31979938-31979955, 31980000, 31980071-31980111
586CYP21A260.85416666666667217148832006207, 32006211-32006224, 32006252, 32006317, 32006326, 32006337, 32006871-32006872, 32006952, 32006973, 32007323-32007328, 32007548, 32007569, 32007850-32007857, 32008234, 32008237, 32008290-32008296, 32008349, 32008355, 32008499-32008530, 32008646-32008697, 32008711-32008727, 32008747-32008798, 32008851-32008858, 32008861, 32008864-32008867, 32008870
587TNXB60.971011077068113691272932009664, 32009822-32009842, 32009905-32009906, 32009933-32009939, 32010110, 32010119, 32010261, 32010299, 32010315, 32010338-32010344, 32010363-32010383, 32010478, 32010508, 32010512, 32010541, 32010589-32010597, 32010732, 32010744-32010745, 32010748, 32010780, 32010857, 32010993, 32011081-32011095, 32011255-32011281, 32011309, 32011313-32011317, 32011327, 32011641-32011664, 32011877, 32011888, 32012158-32012160, 32012222-32012228, 32012274-32012275, 32012299-32012336, 32012377-32012406, 32012421-32012423, 32012792-32012839, 32012961, 32013009, 32013013, 32013018, 32013052-32013053, 32014055-32014069, 32015541, 32015581, 32015659, 32025873, 32025894, 32025948, 32026014-32026017, 32026020-32026040, 32026072-32026084, 32029194, 32029242, 32029253, 32029257, 32029290, 32029294, 32029353, 32029956, 32029959, 32030198, 32064319-32064322
588HLA-DQA160.962239583333332976832609952, 32609965, 32609969, 32609974, 32610387-32610406, 32610436, 32610453, 32610461, 32610534-32610535
589HLA-DQB160.7366412213740520778632629124-32629173, 32629193-32629194, 32629199, 32629224-32629234, 32632575-32632663, 32632687-32632714, 32632718, 32632721, 32632724, 32632729-32632730, 32632741-32632760, 32632775
590COL11A260.999040491268475521133139274, 33139328, 33140138-33140140
591SYNGAP160.9734623015873107403233388042-33388108, 33393630-33393636, 33411448-33411471, 33411569, 33411657-33411664
592FANCE60.9770328988206137161135420352-35420358, 35420393-35420401, 35420406-35420422, 35420428, 35420435, 35420448-35420449
593TULP160.9729895641497944162935479565, 35479574-35479575, 35479973-35479975, 35479978-35479981, 35479984-35479992, 35479996, 35480034-35480039, 35480045, 35480448-35480464
594MOCS160.76975405546834440191139880682-39880685, 39881539-39881546, 39883942, 39883952-39883960, 39893422-39893589, 39895068-39895317
595PRPH260.999039385206531104142672167
596PEX660.9904858987427828294342935241-42935244, 42935273-42935277, 42935295, 42936156, 42936691, 42946445, 42946455-42946462, 42946468, 42946470, 42946473-42946474, 42946518-42946519, 42946638
597CUL760.999803806160491509743008462
598RSPH960.937424789410355283143612836-43612857, 43612867, 43612880-43612886, 43612980-43612995, 43638531-43638536
599RUNX260.9399744572158494156645390442-45390535
600MUT60.999112294718152225349409577, 49409636
601OSTM160.9771144278607231005108395739-108395757, 108395805, 108395822, 108395828, 108395832
602GJA160.9939077458659771149121768922-121768928
603IYD60.998850574712641870150690323
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681CEL90.711580801409076552271135937421, 135937454-135937455, 135940054, 135942019-135942022, 135944521-135944527, 135944583-135944589, 135945985-135946018, 135946462, 135946506-135946538, 135946558-135947074, 135947085-135947132
682SURF190.8062015503876175903136218916-136218925, 136218928, 136219617, 136220627, 136220659-136220673, 136220705-136220706, 136221531-136221553, 136221679-136221690, 136221780-136221783, 136223124-136223175, 136223276-136223329
683ADAMTS1390.5574229691876818964284136288221-136288239, 136290658, 136291099-136291118, 136291427-136291433, 136291438, 136291460, 136293754-136293891, 136295059-136295221, 136297713-136297745, 136297749, 136297753, 136297762, 136297765, 136297801, 136298498-136298638, 136298796, 136298818-136298824, 136301949-136301951, 136301963-136301967, 136301982, 136301992-136301993, 136302014, 136302019-136302024, 136302036-136302067, 136302886-136302962, 136302972-136302975, 136303394-136303402, 136303405-136303406, 136303423, 136303456-136303467, 136303478-136303486, 136304538-136304567, 136305465-136305475, 136305498-136305517, 136305542-136305565, 136305588, 136305594-136305597, 136305611-136305638, 136307543-136307544, 136307548, 136307565-136307655, 136307735-136307799, 136307815-136307864, 136308510-136308521, 136308542, 136308548-136308556, 136308603-136308606, 136308615, 136308633-136308634, 136308652-136308682, 136309985, 136309989-136310014, 136310023-136310025, 136310076-136310084, 136310087, 136310107-136310135, 136310148-136310167, 136310838-136310861, 136310876-136310927, 136310932-136310934, 136313735, 136313741-136313753, 136313765, 136313779-136313849, 136314904-136314911, 136314975, 136315054-136315079, 136319574-136319652, 136319681-136319703, 136319741, 136320420-136320429, 136320435-136320439, 136320447, 136320502-136320505, 136320512-136320613, 136320621-136320634, 136320647-136320673, 136320688-136320711, 136321206-136321209, 136321233-136321236, 136321244-136321249, 136321261, 136321265-136321288, 136321312-136321337, 136321679-136321682, 136321744-136321763, 136321766, 136321778, 136321787-136321841, 136323035-136323041, 136323077, 136323084-136323086, 136323093, 136323137-136323175, 136323215-136323216, 136324165, 136324181, 136324204, 136324231, 136324260-136324285
684DBH90.686084142394825821854136501549-136501554, 136501594-136501597, 136501780, 136501804, 136501807, 136504977, 136504980-136504982, 136504985, 136505022, 136505025-136505026, 136508581, 136508640, 136508651-136508666, 136512969, 136513093-136513109, 136516756-136516842, 136516849-136516883, 136517368-136517371, 136517377-136517406, 136518064-136518081, 136518097, 136518113-136518118, 136521677-136521772, 136522192-136522351, 136523438-136523446, 136523469-136523543, 136523566-136523569
685SARDH90.640188610808859922757136529011-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136550321-136550322, 136550363-136550369, 136550388-136550408, 136555513-136555535, 136555574-136555583, 136555608-136555611, 136555613-136555615, 136555627, 136555629, 136555641-136555649, 136559380-136559424, 136559448-136559493, 136568056, 136568090-136568096, 136568118-136568142, 136573412, 136573415, 136573432-136573461, 136573501-136573528, 136577741-136577746, 136577788, 136577802-136577803, 136577810-136577812, 136577825-136577831, 136578160-136578175, 136578191-136578195, 136578236-136578246, 136582448-136582472, 136582566, 136584060-136584092, 136584121-136584143
686COL5A190.8060540148631510705517137534034-137534142, 137582758-137582813, 137582820-137582861, 137582894, 137582897, 137582913-137582925, 137591755-137591788, 137591810, 137591826-137591968, 137593048, 137593060-137593063, 137593089-137593141, 137593159-137593177, 137622207, 137623460-137623484, 137630341-137630342, 137630617-137630643, 137642388-137642401, 137642406-137642407, 137642426-137642434, 137642661, 137642665, 137642696, 137642703, 137642706-137642728, 137644469, 137645696-137645713, 137646119-137646156, 137648628-137648629, 137648635-137648639, 137650102-137650110, 137650124, 137650141, 137653776-137653784, 137653787-137653797, 137653813-137653824, 137655539-137655551, 137655570-137655583, 137657542, 137657565, 137658846-137658850, 137658854-137658855, 137658876, 137664636, 137664662-137664666, 137666708, 137666741-137666745, 137666753-137666758, 137671962-137671969, 137676836-137676938, 137677841-137677877, 137681030, 137681039, 137687130-137687136, 137688695-137688730, 137690295-137690300, 137690304-137690305, 137693820-137693822, 137693828, 137693850, 137693853, 137694761-137694800, 137694810-137694840, 137703338, 137703395-137703401, 137705865-137705882, 137706708, 137707786-137707794, 137712058-137712059, 137726873-137726876, 137726989, 137726999-137727001
687LHX390.642679900744424321209139089203-139089224, 139089289-139089339, 139089349-139089366, 139089372-139089375, 139089381-139089382, 139089385, 139089391-139089393, 139089401, 139089456-139089458, 139089506-139089509, 139089533, 139089536-139089553, 139089563, 139090557, 139090564, 139090575, 139090596-139090598, 139090603-139090605, 139090651-139090666, 139090754-139090775, 139090780-139090790, 139090797-139090814, 139090823, 139090826, 139090836-139090905, 139091524-139091534, 139091569, 139091594-139091620, 139091682, 139091687-139091691, 139091694-139091697, 139091719-139091726, 139092479-139092486, 139094792-139094878, 139094881-139094883
688INPP5E90.2160206718346315171935139324191, 139324729-139324745, 139324763, 139325471-139325513, 139325544-139325569, 139326276-139326437, 139326931-139326947, 139326955-139327038, 139327408-139327444, 139327467-139327486, 139327505-139327527, 139327607-139327720, 139327729-139327731, 139328489-139328526, 139328545-139328586, 139329192-139329281, 139329303-139329315, 139333060-139333130, 139333142-139333285, 139333295-139333725, 139333732-139333871
689NOTCH190.09520083463745469387668139390523-139391119, 139391129-139392010, 139393389-139393391, 139393395-139393398, 139393415-139393448, 139393583-139393620, 139393623, 139393638-139393698, 139395004-139395290, 139395298-139395299, 139396200-139396204, 139396211, 139396216-139396228, 139396252-139396365, 139396453-139396540, 139396724-139396758, 139396768, 139396778-139396940, 139397641, 139397653-139397725, 139397733, 139397743-139397767, 139397775-139397782, 139399125-139399136, 139399150-139399336, 139399345-139399556, 139399762-139399772, 139399786-139399789, 139399793-139399797, 139399802-139399815, 139399827-139399829, 139399840-139399875, 139399902-139399903, 139399913-139400001, 139400011-139400087, 139400111-139400140, 139400149-139400333, 139400979-139401091, 139401168-139401387, 139401400-139401418, 139401422, 139401757-139401778, 139401818-139401837, 139401845-139401869, 139401882-139401889, 139402408-139402412, 139402422-139402552, 139402571, 139402576-139402591, 139402684-139402794, 139402804-139402837, 139403322-139403523, 139404185-139404187, 139404200-139404226, 139404248-139404268, 139404316-139404357, 139404364-139404406, 139405105-139405177, 139405205, 139405213, 139405251-139405257, 139405604-139405680, 139405700-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409099, 139409126-139409151, 139409742-139409852, 139409935-139410168, 139410433-139410515, 139410539-139410546, 139411724-139411837, 139412204-139412332, 139412347-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438479, 139438486-139438492, 139438501-139438554, 139440178-139440238
690AGPAT290.16009557945042703837139568204-139568251, 139568265-139568379, 139569195-139569198, 139569207, 139569216-139569259, 139571049, 139571058-139571132, 139571413-139571503, 139571519, 139571565-139571588, 139571875-139571911, 139571924-139571975, 139571981-139572008, 139581628-139581809
691SLC34A390.1711111111111114921800140126171-140126189, 140126216-140126234, 140126527-140126528, 140126532-140126548, 140126581-140126584, 140126609-140126613, 140127027-140127064, 140127084-140127085, 140127091-140127093, 140127098-140127112, 140127123-140127152, 140127236-140127238, 140127246-140127379, 140127456-140127518, 140127526-140127537, 140127560-140127567, 140127661-140127694, 140127702-140127750, 140127767, 140127796-140127808, 140127831-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129060, 140129076-140129079, 140129094-140129183, 140130408-140130468, 140130477-140130512, 140130521-140130868
692EHMT190.783423146009758443897140513481-140513501, 140605439-140605467, 140605472, 140611078-140611626, 140622901, 140622962, 140669644-140669654, 140671269-140671286, 140706066-140706067, 140707964-140707974, 140708900-140708906, 140708917-140708925, 140708936, 140728801-140728805, 140728812-140728814, 140728850-140728860, 140728866-140728867, 140728871, 140728884-140728898, 140728923-140728945, 140728952-140728976, 140729269, 140729283, 140729292-140729369, 140729381-140729386, 140729389, 140729395-140729405
693SHOXX0.45733788395904477879591633-591909, 595353-595365, 595375-595561
694CSF2RAX0.4973180076628465613051401597, 1404671-1404672, 1404698-1404738, 1404761-1404791, 1407413, 1409237, 1409240, 1409247-1409272, 1409302-1409319, 1409322-1409334, 1409342-1409389, 1413221-1413354, 1419384-1419516, 1422154-1422255, 1422816-1422828, 1422850-1422912, 1424352-1424355, 1424359, 1424409, 1428299-1428301, 1428341-1428359
695SMSX0.992733878292468110121958946-21958953
696ARXX0.93960923623446102168925031499-25031503, 25031513-25031515, 25031519, 25031522-25031536, 25031562-25031576, 25031644-25031690, 25031777-25031779, 25031852-25031864
697RPGRX0.85111303845042515345938145167-38145196, 38145293-38145739, 38145752-38145753, 38145757-38145758, 38145827-38145857, 38145886, 38145889, 38146151
698BCORX0.9962034927866420526839932188-39932189, 39933250-39933257, 39933354-39933359, 39933930-39933933
699NYXX0.88381742738589168144641332806-41332808, 41332814-41332820, 41332866, 41333012-41333023, 41333049-41333083, 41333245-41333252, 41333267, 41333278-41333290, 41333371, 41333375-41333387, 41333391, 41333426-41333454, 41333461-41333485, 41333541-41333546, 41333641-41333646, 41334055, 41334058-41334063
700ARX0.997466521896497276366765159-66765164, 66765167
701DLG3X0.999592502037491245469665247
702MED12X0.998622589531689653470356267-70356269, 70361116-70361121
703TAF1X0.9899683210137357568270586184-70586240
704SLC16A2X0.998371335504893184273641389-73641391
705XIAPX0.97657295850067351494123019591, 123019789-123019791, 123040921-123040951
706GPC3X0.9959839357429771743133119470-133119476
707SOX3X0.93736017897092841341139586144-139586170, 139586181-139586184, 139586293-139586299, 139586457-139586494, 139586854-139586861
708FAM58AX0.9727891156462620735152864475-152864480, 152864483-152864488, 152864514-152864521
709SLC6A8X0.842243186582813011908152954030-152954064, 152954086-152954206, 152954224-152954228, 152954232-152954233, 152954236-152954245, 152954290, 152956880, 152956883, 152957495-152957500, 152958929-152958931, 152959647-152959653, 152959711, 152959804-152959810, 152959834-152959855, 152959992-152959993, 152959998-152960020, 152960065-152960088, 152960247-152960269, 152960547-152960553
710ABCD1X0.840035746201973582238152990764-152990775, 152990780-152990786, 152990801-152990802, 152990816-152990824, 152990872-152990881, 152990895, 152990900, 152990907-152990918, 152990957-152990980, 152991017-152991021, 152991165-152991182, 152991237-152991262, 152991293-152991299, 152991388-152991425, 152991475-152991533, 152991538-152991539, 153001681, 153001684, 153001867-153001868, 153001872-153001881, 153001956, 153005570-153005581, 153006134-153006155, 153008675-153008678, 153008785-153008791, 153009009-153009056, 153009079-153009093, 153009132, 153009170
711L1CAMX0.99655537890832133774153132116-153132118, 153133325-153133327, 153135887-153135891, 153136522-153136523
712MECP2X0.99331997327989101497153297872-153297877, 153363100-153363102, 153363107
713OPN1LWX0.9324200913242741095153418521-153418544, 153421830-153421832, 153421836-153421862, 153421890-153421891, 153421896, 153424292-153424308
714OPN1MWX0.93607305936073701095153453337, 153453340, 153453477, 153453493, 153455650-153455668, 153458979-153459008, 153461422-153461438
715OPN1MWX0.9662100456621371095153490611, 153492768-153492786, 153498540-153498556
716FLNAX0.903700906344417657944153577816-153577838, 153577919-153577925, 153579969-153579992, 153580375-153580380, 153581000-153581008, 153581013, 153581032-153581037, 153581377, 153581467, 153581470-153581471, 153581741-153581777, 153581804-153581808, 153581822-153581825, 153582082, 153582392-153582403, 153582622-153582629, 153582851, 153583308-153583327, 153585805-153585827, 153585873-153585879, 153585941-153585947, 153586686-153586694, 153586842-153586849, 153587356-153587368, 153587683, 153587709-153587721, 153587856-153587883, 153587914-153587944, 153588010-153588014, 153588106, 153588113, 153588116-153588123, 153588144-153588164, 153588210-153588211, 153588240-153588255, 153588385-153588403, 153588410, 153588413-153588414, 153588417, 153588420, 153588427-153588466, 153588610-153588644, 153588682-153588705, 153588744-153588754, 153588829-153588831, 153588869-153588872, 153588907-153588908, 153589932-153589938, 153590645-153590659, 153590931-153590946, 153592401-153592423, 153592492-153592508, 153592512-153592514, 153592533, 153592969-153593006, 153593084-153593087, 153593201-153593202, 153593318-153593325, 153593780-153593787, 153593822-153593825, 153594982-153594984, 153595113-153595124, 153595844-153595846, 153596214-153596215, 153596222, 153596226-153596233, 153596266, 153599351, 153599356-153599364, 153599435-153599459, 153599500-153599510, 153599546-153599564, 153599575, 153599580, 153599585-153599599, 153599612-153599613
717EMDX0.9084967320261470765153607878-153607881, 153608055-153608109, 153609134-153609136, 153609248, 153609251-153609257
718TAZX0.8910012674271286789153640209, 153640216-153640281, 153640424-153640437, 153640463-153640465, 153640474-153640475
719GDI1X0.97098214285714391344153665607-153665645
720G6PDX0.98107448107448311638153760278-153760282, 153760645-153760664, 153761183-153761187, 153762635
721IKBKGX0.9938524590163991464153788735-153788743
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
4CAV3-T78Mhet unknown0.004Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
3DRD2-S311Chet unknown0.017Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.799 (possibly damaging), Testable gene in GeneTests with associated GeneReview
3PRNP-M129Vhomozygous0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5TYR-P406Lhet unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2ALAD-K59Nhet unknown0.059Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-A4481Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5KRT5-G138Ehet unknown0.052Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.125VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125VWF-R854Qhet unknown0.004Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125VWF-T789Ahomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
1.125VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.125VWF-V471Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K11752Ehet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E10146EVLPEEEEhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9639Khet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-D6352Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTHFR-A222Vhomozygous0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DNAH6-E717Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DNAH6-G1694Ahomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
1DNAH6-V2898Ihomozygous0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.931 (probably damaging)
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MATN3-E252Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
1MYO5B-L1055LLhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-R918Hhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-K307Nhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-H-E47Khomozygous0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-L145Rhomozygous0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-A147Vhomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-G181*homozygous0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RYK-S95Nhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLAC4-L104ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PCNT-Q168QHGMFTVSDHPPEQhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1PCNT-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
1PCNT-A2903Thomozygous0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.085 (benign), Testable gene in GeneTests
1ARSA-R496Hhet unknown0.055Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-N350Shet unknown0.183Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1SCARF2-IQ842NEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-A832Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
1MBL2-N215Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
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-L270Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
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
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1C10orf113-D100HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C10orf113-S22ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1FAM151A-G546Dhet unknown0.032Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.625 (possibly damaging)
1FAM151A-G526Ahet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HRNR-L2688Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1LCE3C-R75ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1CLECL1-S52Shifthomozygous0.008Unknown
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
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
1TRIM15-I29Vhomozygous0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
1TRIM15-A42Thomozygous0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
1TRIM15-L235Vhomozygous0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.867 (probably damaging)
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1KCNH6-Y54Chomozygous0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1UMOD-V458Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATP6V0A2-A813Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLX4-A1221Vhomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.263 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1SLX4-P1122Lhomozygous0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1SLX4-A952Mhomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLX4-L671Shomozygous0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLX4-N457Khomozygous0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLX4-M386Vhomozygous0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLX4-R204Chomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1FRMD7-S281Lhomozygous0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.265 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1WBSCR28-I14Nhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1WBSCR28-G137Shomozygous0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-D621Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CXorf59-R424ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATP7A-V767Lhomozygous0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MAGEB6-R98Hhomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.766 (possibly damaging)
1MAGEB6-A100Vhomozygous0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign)
1OPN1LW-T285AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPN1LW-A298PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPN1LW-Y309FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
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
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACSM5-R341Khet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5ACSM5-H360Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WSCD1-T301Ihet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5IL4R-I75Vhomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-S503Phet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.743 (possibly damaging)
0.5IL4R-Q576Rhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-S752Ahet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.328 (possibly damaging)
0.5IL4R-S786Phet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5FANCI-P55Lhet unknown0.051Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA3-E996Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA3-E993Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRAP1-R692Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.483 (possibly damaging)
0.5TRAP1-R307Ghomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRAP1-S259LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYH11-A1241Thomozygous0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027336-P160Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-W23*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZDHHC1-R124Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.905 (probably damaging)
0.5LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhomozygous0.301Unknown
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
0.5FHOD1-P533Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5DHODH-A341Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5KIAA0513-R100Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CNGB1-A961Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-T461Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SH2B1-L149Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SH2B1-T484Ahomozygous0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RBL2-Y210Chet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5RBL2-E575Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5SLC28A1-L140LVhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D5547Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-I6547Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-L244Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIPA1L1-P56Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.679 (possibly damaging)
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAAT-V304Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.019 (benign), Testable gene in GeneTests
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-V878Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TXNDC16-E486Khet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5TXNDC16-A180Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5DDHD1-S85Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DDHD1-C83Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PER1-A962Phomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.212 (possibly damaging)
0.5PER1-P37Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETFA-T171Ihet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-E300Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OCA2-R419Qhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CDAN1-R1065Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5ELL3-W140Rhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-A84Thet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-D1530Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-V1183Mhet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A1020Phet unknown0.112Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5UNC13A-L1121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IL12RB1-G378Rhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5IL12RB1-M365Thomozygous0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL12RB1-Q214Rhomozygous0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM98C-C227Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
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
0.5ADAMTS10-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
0.5RP1-R872Hhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-R1595Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-S1691Phomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAX-D44Ehomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CTDP1-S61Ahomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF57-S56Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ZNF57-T223Nhomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.654 (possibly damaging)
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhomozygous0.130Unknown
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
0.5LILRA1-V5Lhomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-R12Ghomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-S153Ghomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-R191Hhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5LILRA1-L220Phomozygous0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-GE261WGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRA1-Y301Hhomozygous0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-V387Lhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SRD5A2-L88Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SRD5A2-A48Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LILRB3-V575Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRB3-R525Ghet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-R465Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-H61Dhomozygous0.886Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-R59Qhet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRB3-Q53Lhomozygous0.864Unknown
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-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
0.5ZNF224-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
0.5CEACAM20-C512Rhet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEACAM20-D484Shifthomozygous0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CEACAM20-Y470Chet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEACAM20-S355Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BCAM-S447Lhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.051 (benign), Testable gene in GeneTests
0.5BCAM-Q581Lhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.79 (possibly damaging), Testable gene in GeneTests
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTR-G26Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG2-E713Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5DSG2-R773Khomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT10-H487SSGGGYhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-H487SSGGGYhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-G481GYGGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT33B-E85Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5PNPO-R116Qhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5GNGT2-Q17Rhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5SLFN5-R655Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLFN5-A797Vhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRHL2-K9Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH1-R1272Whet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-R346Khomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNJ12-S15Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.5KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-E139Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5KCNJ12-G145Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KCNJ12-P156Lhet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-S343Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.041 (benign)
0.5KCNJ12-S371Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KCNJ12-E378Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.314 (possibly damaging)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPN3-R170Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMA1-L2144Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LAMA1-I2076Thet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-K2002Ehet unknown0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-A1876Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-I1659Vhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-S1577Ahet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.397 (possibly damaging)
0.5LAMA1-M1340Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.942 (probably damaging)
0.5LAMA1-N674Thet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.167 (benign)
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACOX1-I312Mhomozygous0.505Unknown
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
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-N615Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.643Unknown
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
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA9-K1306Thomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ABCA9-N785Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
0.5ABCA9-R353Hhomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FARP1-H644Yhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDNF-W154Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RPP38-A181Ghomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPP38-I212Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RPP38-R250Ghet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-L2153Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEBL-K60Nhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ECHDC3-A69Thomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-A151Thomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-D162Nhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RYR2-Q2958Rhomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUBAL3-R250Whet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-L152Phet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhet unknown0.715Unknown
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
0.5ZDHHC6-D41Nhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5WDR11-E988Khet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5RGR-S245Fhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-R934Qhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDHR1-P812Shet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-S494Nhet unknown0.248Unknown
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-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSCN-A908Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-N1845Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-Q1855Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OBSCN-G2789Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5OBSCN-H4381Rhet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-S4456Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-H4489Qhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.583 (possibly damaging)
0.5OBSCN-R4534Hhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-S4642Chet unknown0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-G4666Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-D4962Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-R5578Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-IS7103TPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-A7172Vhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRIQ3-A558Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5LRRIQ3-E434Khet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5LRRIQ3-A255Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRIQ3-M129Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.819 (possibly damaging)
0.5ABCA4-N1868Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests
0.5ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F8-D1260Ehomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5CCDC28B-R25Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5DEM1-L151Phet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5DEM1-G172Vhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH2-S106Phet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TDRKH-G257Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging)
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5VASH2-R284Qhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR2-C72Yhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5NCF2-P454Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NCF2-H389Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FLG-R3738Hhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G2545Rhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-H2507Qhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-K2444Ehet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2194Hhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2119Hhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Q1914Rhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1684Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1360Hhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1167Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-E755Khet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-T454Ahet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G444Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CD244-G287Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPHS2-R229Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5DARS2-G338Ehet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview
0.5TACC2-V170Ihomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-L830Fhomozygous0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-A1066Thomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-W1103Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-A1425Thomozygous0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-T2482Mhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TACC2-A2732Thet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-K3217Ehet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5MKI67-T3150Shet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-T2868Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MKI67-R2786Qhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.969 (probably damaging)
0.5MKI67-P2608Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5MKI67-N2363Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-E1403Vhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5MKI67-G1042Shet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.265 (possibly damaging)
0.5MKI67-R832Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MKI67-N104Shet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARHGAP9-S370Ahet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARHGAP9-R50Ghet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT6C-R182Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PFKM-R100Qhomozygous0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), 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
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5LRRK2-R50Hhomozygous0.964Unknown
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
0.5COL2A1-E142Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FKTN-R203Qhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL4A1-P1240Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-V7Lhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NUPL1-A34Thomozygous0.396Unknown
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)
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GALTL-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
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T665Ihet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-K457Nhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALX4-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
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNAPC4-D40Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5MRGPRX1-F273Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5MRGPRX1-A46Thet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5HPS5-L417Mhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF215-F301Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ZNF215-V323Lhomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SBF2-Q1216Ehet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5SBF2-L1098Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-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
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG9-V289Ihomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLAT-A43Vhomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-V318Ahomozygous0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-D451Nhomozygous0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTGS1-W8Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGS1-P17Lhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPC6-A404Vhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5POMT1-D411Ehet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A45-R285Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5SLC25A45-M224Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTF1-R401Qhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L16Shomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOBEC3B-K62Ehet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APOBEC3B-S109Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5APOBEC3B-T146Khomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR2-P631Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5TMEM144-I239Fhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BBS12-R386Qhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS12-D467Nhomozygous0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP10D-T43Ihet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.143 (benign)
0.5ATP10D-N720Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIT-M541Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-V253Ihomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TLR3-L412Fhomozygous0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shet unknown0.748Unknown
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
0.5GPR98-E2897Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSB-V358Mhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (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
0.5IL7R-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
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5ZNF366-A739Ghet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5ZNF366-V269Fhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5IQGAP2-V455Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IQGAP2-D527Ehomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-K532Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-L629Fhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-I724Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR1-S602Ihomozygous0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR1-L371Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR1-N248Shomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STAB1-M912Vhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STAB1-E1892Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5STAB1-S2438Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5STAB1-WD2443CAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GBE1-A598Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5CPOX-V294Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5TTC21A-R91Qhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5TTC21A-R290Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5TTC21A-E293Khet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5TTC21A-R1056Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTC21A-R1316Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTC21A-R1317Khet unknown0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1644-S197Lhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP3A43-M275Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP3A7-L353Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-R492Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN2-R126Hhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYH15-T1125Ahomozygous0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5SERPINI1-F7Lhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SERPINI1-A280Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HTT-E2643Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-LYVLECDLL2787PSVLECDLRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC3A1-G376Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5FAM194A-R549Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM194A-L426Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5AKAP9-E342EEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K921Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIDT1-G3Shet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIDT1-Y602Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELN-G711Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-M448Thet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.578 (possibly damaging), Testable gene in GeneTests
0.5PEX6-P939Qhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhomozygous0.354Unknown
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-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-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-S75Rhet unknown0.047Unknown
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-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G78Rhomozygous0.182Unknown
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-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihomozygous0.248Unknown
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shomozygous0.211Unknown
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-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q241Rhomozygous0.421Unknown
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-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5TRERF1-D1187Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
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
0.5KIAA1586-F75Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T400Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A568Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V2525Ihet unknownRecessive
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-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-A4322Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-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
0.5CD109-G828Ehet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CD109-T1241Mhomozygous0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIAA1009-E348Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIM1-V117Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5HLA-DRB5-Q220Rhomozygous0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-DRB5-T106NhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-DRB5-L67Vhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-DRB5-Q38EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-DRB5-R33*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HLA-DRB5-G30Rhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOTCH4-G835Vhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NOTCH4-K117Qhet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NIPAL4-S453Lhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SOX30-P152Lhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.117 (benign)
0.5SOX30-C55Rhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5IL12B-V298Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.84 (possibly damaging), Testable gene in GeneTests
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCOF1-A665Phet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-G1394Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDHB7-T534Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB7-S568Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PCDHB7-PL575LVhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5YIPF5-A76Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ODZ2-D410Ghet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.863 (probably damaging)
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF273-H256Nhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNXB-G3212Vhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1414Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MICA-A47Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-E148Khet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5ZFP57-R187Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NRSN1-H104Yhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5N4BP3-R317Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RIOK1-R114Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5RIOK1-V375Ihet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.272 (possibly damaging)
0.5F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V651Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMPRSS15-P732Shet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMPRSS15-S308Fhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5TMPRSS15-E134Qhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5AGXT-I340Mhomozygous0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SAG-I76Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.436 (possibly damaging), Testable gene in GeneTests
0.5SAG-V403Ihomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MET-E168Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MET-T992Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-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-P1004Lhet unknown0.516Unknown
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
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPY19L2P2-H375Yhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-N333Ihet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-D279Nhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-C265Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-M120Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FERMT1-V241Ahet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM65C-C566Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5WFDC3-R63Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WFDC3-H36Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.207 (possibly damaging)
0.5SPINT3-L77Shet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPINT3-F54Shet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ABHD12-A349Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.453 (possibly damaging)
0.5KIAA1755-R1045Whomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5KIAA1755-E940Khomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1755-R510*het unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KIAA1755-K339Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.427 (possibly damaging)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABP1-T16Mhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-S332Fhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABP1-T592Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-H645Dhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC4A5-V1106Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-T3542Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FSHR-S680Nhomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RTN4-D357Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ATP6V1B1-T30Ihomozygous0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEKT4-S349Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.886 (probably damaging)
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
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
0.5COL5A2-P833Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-V512Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.445 (possibly damaging), 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-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S6081Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACOXL-R163Whet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.863 (probably damaging)
0.5ACOXL-T255Mhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5AK097289-V20Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK097289-F90Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC5A1-N51Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.043 (benign), Testable gene in GeneTests
0.5SLC5A1-A411Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A1-H615Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-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
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.375SMPD1-G492Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GSTP1-I105Vhet unknown0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.375NLRP7-G487Ehet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NLRP7-R156Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375NAT2-G286Ehet unknown0.023Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SLC2A2-R53Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T485TTPKEPAPThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25CYP2D6-T486Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-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-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25GLYR1-H459Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLYR1-R381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A23-M500Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC22A23-R16Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A23-EAA8GARhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-V3698Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADAMTSL1-S242Nhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL1-I396Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ADAMTSL1-L823Ihomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NPW-R141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NPW-D149Ahet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25ARHGAP33-P26Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARHGAP33-Y1074Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25EYS-R2326Qhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-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-L1419Shet unknown0.759Unknown
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-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-H1300Rhomozygous0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A2-S270Ahet unknown0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KBTBD11-GA26AThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KBTBD11-G70*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD19-R514Hhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.944 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A120Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25KIAA0754-T1302Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KIAA0754-VAA1305EPThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KIAA0754-I1308Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA0754-A1310Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-S3754Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MLL3-L687Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25MLL3-L291Fhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25NR_027023-F74ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027023-L142Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25NLRP12-AHTLL684VRTRVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NLRP12-G39Vhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25PTPN22-W620Rhet unknown0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DOK3-L478Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DOK3-P366Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CAPN3-A236Thet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABHD15-T334Ahomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABHD15-V140Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25GDF5-S276Ahet unknown0.359Unknown
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
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AKNA-G1324Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AKNA-S1303Phet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AKNA-R1119Qhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.895 (probably damaging)
0.25AKNA-P624Lhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.307 (possibly damaging)
0.25AKNA-V172Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IRAK4-A428Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCM3AP-V974Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MCM3AP-S102Lhomozygous0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.945 (probably damaging)
0.25DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.25DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH5-H12Qhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL18A1-A288Thet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.25COL18A1-I1536Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF462-Q1103Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF462-N1828Shet unknown0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HOXB3-P82Thomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HOXB3-Q34Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCARF1-G667Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCARF1-E639Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCARF1-G626Shet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.25SCARF1-D364Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DNAH9-R24Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAH9-Q445Rhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH9-M4374Ihet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.659 (possibly damaging)
0.25CDH4-M297Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDH4-K625Rhet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDH4-D637Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CYP11B2-K173Rhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM185A-G60Ahomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM185A-S252Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM185A-R347Chet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25IGSF5-W18*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25IGSF5-R49Thomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.25EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25FAM83G-D819DHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM83G-G85Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM83G-ED79DGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PANK2-G126Ahet unknown0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAM3A-G372ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-R356Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-L329Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ADAM3A-S296Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-R215Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CDH5-I503Thet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDH5-I517Thet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDH5-Y725Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25ZNF358-N32Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF358-A277Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGFR4-P136Lhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25SALL3-L593Vhet unknown0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SALL3-S902*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCD2-N405Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
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
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.25SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIGLEC1-L1657LLLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIGLEC1-A974Vhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25SIGLEC1-H919Phomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIGLEC1-K239Rhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SIGLEC1-N92Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
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
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SGSH-V361Ihet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.049 (benign), Testable gene in GeneTests
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
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
0.25TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0PYGM-R50*het unknown0.002Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,753,906,709 bases (96.4% of callable positions, 89.4% of total positions)

Coding region coverage: 31,086,583 bases (93.4% of all genes, 94.5% 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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