huE7765D - GET-Evidence variant report

Variant report for huE7765D

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
2COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Homozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
3MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
4APOA5-S19WLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0646151This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.1
5MBL2-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
6ELAC2-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
7TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
8SP110-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
9ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
10TP53-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
11DPYD-M166VHighLikelyLikely pharmacogenetic

Unknown, Heterozygous
0.0778955Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. 1
12rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
13ABCC6-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
14NPC1-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
15CFH-V62ILowLikelyLikely protective

Complex/Other, Homozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
16IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
17KCNJ11-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
18LIG4-A3VLowUncertainUncertain protective

Dominant, Heterozygous
0.035843One report has associated this with a decreased risk of multiple myeloma.1
19NEFL-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
20EFHC1-R182HLowLikelyLikely benign

Unknown, Heterozygous
0.0439673Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.1
21MSH2-G322DLowLikelyLikely benign

Unknown, Heterozygous
0.0110615Although other variants in this mismatch repair gene are associated with cancer, most publications dismiss this variant as a polymorphism (HapMap allele frequency of 1.6%).1
22CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
23MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
24MAPT-Q230RLowUncertainUncertain benign

Unknown, Heterozygous
0.0420019Common polymorphism.1
25DSPP-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
26COL7A1-P1277LLowUncertainUncertain benign

Unknown, Heterozygous
0.0407139Polymorphism, presumed benign.1
27APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
28TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
29ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
30SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
31RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
32PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
33TAS2R38-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
34TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
35PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30265168 / 33282720 = 90.93%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.1348973607038153106138955553-955753, 957581-957842, 970657-970704, 976045-976260, 976553-976777, 976858-976918, 976940, 976942, 976945-977000, 977012-977013, 977020, 977024-977036, 977060-977082, 977336-977502, 977511, 977516-977526, 977538-977542, 978640-978642, 978646, 978655-978665, 978681-978837, 978918-978977, 979003-979112, 979203-979278, 979286, 979298-979383, 979393-979396, 979489-979515, 979531, 979541-979545, 979548-979573, 979585, 979610-979637, 979714, 979729-979746, 979756, 979788-979819, 980541, 980587-980657, 980739-980767, 980780, 980817-980892, 981113-981256, 981345-981430, 981446-981453, 981463-981468, 981540-981556, 981569-981576, 981579-981594, 981597-981599, 981602-981614, 981624-981630, 981637-981645, 981777-982100, 982109-982115, 982200-982337, 982707-982775, 982788-982834, 982953-983048, 983065-983067, 983156-983275, 983392-983745, 984247-984343, 984350-984439, 984626-984629, 984632-984670, 984676-984763, 984769-984800, 984946-984948, 984954-984981, 984998-985117, 985152-985175, 985283-985295, 985317, 985331-985372, 985378-985407, 985410-985417, 985613-985709, 985807-985823, 985834-985891, 985911-985945, 986106-986217, 986633-986660, 986670-986749, 986833-986850, 986854-986865, 986876-986878, 986888-986900, 986904-986920, 986933-987025, 987108-987195, 989133-989240, 989246-989256, 989262-989328, 989345-989357, 989828-989931, 990204-990324
2GABRD10.3892568064753583013591950863-1950930, 1956381-1956396, 1956419, 1956423-1956427, 1956461-1956493, 1956781-1956782, 1956957, 1956970-1956971, 1956980-1956991, 1957028-1957046, 1957067-1957079, 1957105-1957108, 1957111-1957124, 1957133-1957138, 1957153, 1957164-1957167, 1957175-1957176, 1959040, 1959049-1959091, 1959605-1959641, 1959656-1959704, 1960550-1960578, 1960585-1960663, 1960673-1960684, 1960990-1961011, 1961020-1961080, 1961122-1961172, 1961181-1961197, 1961422-1961487, 1961509-1961515, 1961518-1961524, 1961530, 1961539-1961569, 1961608-1961721
3PEX1010.529051987767584629812337220-2337236, 2337923-2337969, 2337982, 2338021, 2338026-2338034, 2338159-2338177, 2338215, 2338233-2338283, 2338304-2338311, 2339892-2339893, 2339944, 2339989, 2339992, 2340001-2340048, 2340109-2340110, 2340122-2340124, 2340138-2340223, 2340240, 2340269-2340279, 2340289, 2341834-2341835, 2341854-2341890, 2343830-2343941
4NPHP410.8953515533753844842815923978, 5923982-5923987, 5924448, 5924557-5924560, 5925178, 5934700-5934701, 5934704-5934714, 5934951-5934961, 5935046-5935077, 5935111, 5935147-5935157, 5940189-5940195, 5947387-5947397, 5947482, 5947495-5947526, 6021862-6021866, 6027387, 6027420-6027421, 6029154, 6029199-6029205, 6029267-6029307, 6038330-6038473, 6046215-6046307, 6046321-6046342
5ESPN10.54463937621832116825656485016-6485309, 6488288-6488291, 6488304, 6488322, 6488325, 6488332-6488333, 6488377-6488392, 6488426-6488432, 6488466-6488467, 6500363-6500372, 6500389-6500393, 6500399-6500407, 6500412-6500438, 6500449-6500490, 6500699, 6500702, 6500712, 6500721-6500724, 6500738-6500798, 6500827-6500868, 6500994-6501015, 6501021-6501065, 6501093-6501120, 6504606-6504648, 6504666-6504679, 6504736-6504742, 6505726-6505767, 6505779, 6505817, 6505846-6505877, 6505891, 6505900, 6505906-6505926, 6508702, 6508730, 6508755-6508767, 6508810-6508857, 6508882-6508888, 6508925, 6508960-6508964, 6508976, 6508979, 6508985, 6509017-6509023, 6509033-6509086, 6509100-6509121, 6509133-6509151, 6511663, 6511687-6511709, 6511754, 6511770, 6511784, 6511789-6511791, 6511907-6511950, 6511969-6512002, 6512023-6512024, 6512038, 6512045, 6512055, 6512106-6512156, 6517286-6517292, 6517299-6517323, 6520178, 6520184
6PLEKHG510.67074317968015105031896527906, 6527970-6528006, 6528017-6528029, 6528041, 6528044, 6528050-6528062, 6528072-6528107, 6528134, 6528161-6528201, 6528245-6528258, 6528264-6528270, 6528279-6528282, 6528505-6528506, 6528511, 6529183-6529185, 6529231, 6529288, 6529402-6529424, 6529453-6529464, 6529488-6529497, 6529615-6529628, 6529642, 6529667-6529670, 6529683-6529718, 6529726-6529736, 6530337-6530348, 6530354-6530392, 6530588-6530629, 6530645, 6530795-6530867, 6530883-6530887, 6530890, 6530896, 6530944, 6531081-6531094, 6531156, 6531160, 6531587-6531615, 6531818-6531854, 6532609-6532632, 6532654-6532672, 6533072, 6533120-6533126, 6533197, 6533213, 6533216, 6533357-6533396, 6533409-6533418, 6533422, 6533475-6533478, 6533502, 6533509, 6534080-6534081, 6534093-6534126, 6534135, 6534145-6534153, 6534158-6534162, 6534194, 6534203-6534224, 6534511-6534515, 6534521-6534583, 6534602-6534647, 6535109, 6535127-6535130, 6535134-6535135, 6535163-6535176, 6535194-6535198, 6535522-6535568, 6536005-6536007, 6536013, 6536019-6536020, 6536034-6536038, 6536045, 6536049, 6536072-6536095, 6537589-6537608, 6537645-6537648, 6537654-6537664, 6537685-6537718, 6556560-6556563, 6556581-6556582, 6556613-6556629, 6557380-6557383
7KIF1B10.999811782420481531310328210
8PEX1410.80511463844797221113410683076-10683091, 10683146-10683148, 10683152-10683154, 10683166, 10684397-10684408, 10684433, 10684436-10684455, 10687400-10687403, 10689601-10689611, 10689614, 10689617-10689622, 10689684-10689707, 10689730-10689772, 10689836-10689855, 10689920, 10689932, 10689948-10689949, 10689961-10689973, 10689978, 10689998-10690035
9TARDBP10.85622489959839179124511073900-11073924, 11074008, 11080523, 11080627, 11080648-11080656, 11082229, 11082261, 11082272-11082275, 11082322-11082362, 11082384-11082402, 11082420, 11082427, 11082441, 11082452-11082453, 11082459, 11082471-11082490, 11082519-11082561, 11082630-11082636
10MASP210.396894711305191243206111086959-11086998, 11087070-11087072, 11087178-11087204, 11087224, 11087227-11087251, 11087393-11087400, 11087487, 11087518, 11087521-11087549, 11087604, 11090233-11090234, 11090264, 11090295-11090307, 11090820, 11090827-11090847, 11090850-11090854, 11090881-11090884, 11090893-11090897, 11090911-11090924, 11094885-11094905, 11094914-11094957, 11097750-11097850, 11097859-11097868, 11102932-11103079, 11103396-11103592, 11105465-11105530, 11105540-11105596, 11106613-11106698, 11106708-11106790, 11106948-11107071, 11107078-11107176, 11107260-11107264
11MTHFR10.73871131405378515197111850741, 11850755-11850766, 11850814-11850832, 11851269-11851272, 11851345, 11851349-11851361, 11852397-11852398, 11852412-11852419, 11853969-11854000, 11854006, 11854033-11854037, 11854042-11854045, 11854067-11854108, 11854119, 11854131, 11854133-11854135, 11854143, 11854492-11854566, 11854803, 11854820-11854866, 11854888-11854902, 11855172-11855205, 11855224-11855271, 11855310, 11855313, 11855332-11855334, 11855337-11855341, 11855366-11855385, 11855388-11855394, 11855401, 11855404-11855405, 11856264-11856270, 11856280, 11856366, 11856395, 11856414, 11860281-11860294, 11861296-11861337, 11861378-11861396, 11862966-11862981, 11863086-11863088
12PLOD110.9748168498168555218411994837-11994840, 12012701-12012702, 12012706, 12024252, 12024774-12024775, 12030727-12030770, 12030838
13MFN210.9678979771328173227412062047-12062051, 12064607, 12065906-12065907, 12066606, 12066636, 12066669, 12066747-12066750, 12067160-12067161, 12067260, 12067271-12067289, 12067294-12067298, 12069750-12069780
14CLCNKA10.416666666666671204206416349126-16349166, 16349176-16349197, 16350295-16350304, 16350333, 16350405, 16350411, 16351258-16351282, 16351284, 16351339, 16351356-16351361, 16352653, 16352719-16352727, 16352732-16352736, 16353031-16353064, 16353077-16353080, 16353192-16353210, 16353230-16353256, 16353266-16353270, 16353839-16353898, 16353908-16353930, 16354321-16354336, 16354381-16354398, 16354571, 16354576, 16354581-16354614, 16355273-16355298, 16355302-16355305, 16355317-16355340, 16355630-16355640, 16355663-16355694, 16355700-16355766, 16355782-16355794, 16356237-16356253, 16356259, 16356280-16356293, 16356461, 16356468-16356493, 16356497, 16356501, 16356516-16356570, 16356956-16357169, 16358205-16358220, 16358242-16358278, 16358288-16358302, 16358322, 16358330-16358338, 16358698-16358786, 16358938-16358954, 16358964-16359019, 16359676-16359693, 16359706-16359751, 16360106-16360115, 16360137-16360153
15CLCNKB10.72868217054264560206416371052, 16371067, 16372069-16372077, 16372119, 16373149, 16373154-16373157, 16374449-16374452, 16374481-16374482, 16374519, 16374524, 16374854, 16374860, 16374887, 16375060, 16375073-16375077, 16375739-16375740, 16376120-16376134, 16376390-16376398, 16377016-16377060, 16377083-16377085, 16377370-16377387, 16377412-16377460, 16377509-16377528, 16377994-16378009, 16378030-16378042, 16378214-16378215, 16378227-16378283, 16378290-16378293, 16378296, 16378693-16378697, 16378704, 16378709-16378712, 16378716-16378742, 16378751-16378788, 16378794-16378832, 16378839-16378884, 16378896, 16378899-16378906, 16380134-16380142, 16380158-16380180, 16380195-16380196, 16380202-16380232, 16380262-16380267, 16381960-16381965, 16382015-16382018, 16382221-16382232, 16383364-16383372, 16383411
16ATP13A210.95088907705334174354317312742, 17312764-17312807, 17312959, 17313004, 17313301-17313310, 17313595-17313635, 17313649, 17313664, 17313675, 17313681, 17314841, 17314919-17314934, 17314949, 17314953, 17314962, 17318312-17318319, 17320269, 17320273-17320275, 17322536-17322561, 17322780, 17322927-17322928, 17326577, 17338224-17338233
17ALDH4A110.9479905437352288169219199370-19199377, 19200995-19201001, 19201960-19201963, 19202917, 19203933-19203935, 19208237-19208248, 19208284-19208290, 19209791-19209834, 19212958, 19215915
18ALPL10.9885714285714318157521889603-21889611, 21890613-21890619, 21890693, 21894735
19HSPG210.8437310261080820591317622149809-22149834, 22149841-22149892, 22149898-22149902, 22149935, 22149940-22149943, 22149969, 22149972-22149981, 22150112-22150148, 22150154-22150177, 22150201-22150212, 22150624-22150631, 22150660, 22150665-22150666, 22150675-22150677, 22150692-22150697, 22150799, 22150810-22150849, 22150855-22150869, 22151030-22151090, 22151197-22151209, 22151258-22151265, 22154356-22154358, 22154385-22154389, 22154397, 22154523-22154550, 22154602, 22154624-22154645, 22154760-22154796, 22154845, 22154866, 22154878, 22154902-22154919, 22155328-22155368, 22155415-22155419, 22155444-22155446, 22155512-22155516, 22155542-22155572, 22155932-22155935, 22155951-22156027, 22156041, 22156055-22156056, 22156060-22156061, 22156074-22156097, 22156517-22156519, 22156574-22156581, 22157475-22157489, 22157498-22157526, 22157542-22157560, 22158244-22158246, 22159022, 22160019, 22160022, 22160027, 22160043, 22160350-22160354, 22163422-22163427, 22163430, 22165429, 22165437-22165456, 22165467-22165470, 22167594-22167633, 22167638, 22167724, 22167754-22167755, 22167777-22167778, 22168081-22168084, 22168546-22168547, 22168579-22168613, 22168732-22168735, 22169371-22169373, 22169878, 22169888, 22169907-22169916, 22169919-22169921, 22170665, 22170742-22170788, 22172627-22172636, 22172639, 22172745-22172748, 22172989-22173010, 22173055, 22173847-22173848, 22173877, 22173915-22173936, 22173944-22173952, 22174299-22174309, 22174468-22174478, 22174515-22174546, 22174574-22174586, 22175136-22175173, 22175254, 22175257, 22175477, 22175496-22175524, 22176547-22176553, 22176594, 22176600-22176604, 22176608-22176610, 22176657-22176661, 22176873-22176904, 22176929, 22176976-22176991, 22178182, 22178314, 22178336, 22178339-22178340, 22178352-22178353, 22178358-22178369, 22178375, 22178610-22178614, 22178624, 22178679-22178712, 22179451, 22179514, 22179520-22179528, 22180756-22180796, 22181125, 22181136-22181138, 22181143-22181148, 22181154-22181167, 22181200, 22181210-22181211, 22181341-22181345, 22181397, 22181409-22181442, 22181797-22181801, 22181808-22181839, 22181846-22181871, 22181895, 22182037-22182039, 22182044-22182046, 22182050-22182054, 22182077, 22182284, 22182291, 22182336, 22182365, 22182378, 22183685-22183688, 22183872-22183877, 22186059-22186169, 22186328-22186425, 22186431-22186495, 22186670-22186728, 22188250-22188259, 22188268-22188271, 22188284, 22188325-22188332, 22188481-22188494, 22188530-22188557, 22188583, 22188598-22188608, 22192255-22192258, 22199503-22199541, 22211316-22211319, 22211813-22211818, 22213821, 22216574, 22216924-22216952, 22216977-22216978, 22217124-22217155, 22263648-22263710
20WNT410.66193181818182357105622446571-22446595, 22446627, 22446645, 22446671, 22446685, 22446725-22446741, 22446765-22446776, 22446886, 22446942-22446986, 22447005, 22447706, 22447710, 22447792-22447801, 22447954, 22448046, 22456123-22456163, 22456177-22456195, 22456207-22456239, 22456268, 22456278-22456344, 22469339-22469415
21HMGCL10.971370143149282897824134713, 24134717-24134724, 24137284, 24151846-24151859, 24151873, 24151884-24151885, 24151889
22FUCA110.82726623840114242140124186384-24186386, 24189721, 24194418-24194466, 24194503-24194529, 24194558-24194586, 24194589, 24194602-24194658, 24194686-24194718, 24194735-24194776
23LDLRAP110.99892125134844192725870267
24SEPN110.85671462829736239166826126722-26126904, 26131651-26131657, 26131684-26131699, 26135602-26135604, 26137945, 26138019, 26138293-26138296, 26138352, 26139178-26139184, 26139262-26139277
25YARS10.9766855702583537158733241591, 33241604-33241608, 33241662, 33241668, 33241674-33241675, 33241684, 33245719, 33252031, 33252653-33252676
26GJB310.92496924969256181335250408-35250416, 35250424, 35250768-35250782, 35250785, 35250789-35250805, 35250812-35250814, 35250983-35250993, 35251009, 35251089, 35251092, 35251176
27PPT110.99239956568947792140557011, 40558088-40558093
28KCNQ410.63793103448276756208841249766-41249842, 41249848-41249939, 41249947-41249957, 41249960, 41249979-41250004, 41250020-41250062, 41250067-41250077, 41282961-41282995, 41283852-41283871, 41283896-41283903, 41283930, 41283933-41283953, 41284179-41284214, 41284248-41284352, 41285019-41285041, 41285087, 41285093-41285132, 41285547-41285551, 41285570-41285573, 41285578, 41285625-41285636, 41285917, 41288057-41288059, 41289816-41289821, 41289890, 41296757, 41296761-41296763, 41296809-41296811, 41296854, 41296857-41296858, 41296907-41296942, 41296953, 41296956-41296969, 41296972-41296974, 41298704, 41298707, 41298760-41298765, 41298769-41298774, 41298778, 41300694, 41300711-41300742, 41304059, 41304102-41304134, 41304153-41304169, 41304187-41304195
29CLDN1910.99555555555556367543201549, 43203939, 43203953
30LEPRE110.9923111714156517221143215964-43215967, 43232366-43232369, 43232452-43232460
31SLC2A110.9878296146044618147943424305-43424322
32POMGNT110.8915784165406215198346659030, 46660233, 46660247, 46660261, 46660266-46660274, 46660532, 46660589-46660590, 46660594, 46661483, 46661532, 46661543-46661569, 46661590, 46661703, 46661706, 46661733-46661749, 46662500, 46662511, 46662515, 46662521, 46662650, 46662716-46662723, 46662732-46662756, 46663374-46663400, 46663407-46663490
33ORC110.999226604795052258652854292-52854293
34DHCR2410.994842037395238155155352595-55352601, 55352773
35BSND10.99273104880582796355464986-55464991, 55470710
36PCSK910.9889369889369923207955521712-55521715, 55521720-55521733, 55521829-55521832, 55524203
37ACADM10.9882629107981215127876205740-76205754
38GLMN10.9876750700280122178592755771-92755788, 92762974-92762975, 92763535, 92763549
39ABCA410.998973907944887682294476827-94476832, 94490514
40DPYD10.997725795971417307898060615-98060621
41AGL10.99652098282235164599100378024-100378039
42DBT10.9993098688750911449100672018
43COL11A110.99633498259117205457103364255-103364270, 103364273-103364275, 103548497
44NGF10.998622589531681726115829237
45VANGL110.94412698412698881575116206765, 116206887-116206888, 116226651, 116226666-116226686, 116227966-116228011, 116228049-116228055, 116228099-116228108
46HMGCS210.9993451211525911527120299937
47NOTCH210.978829557713051577416120539665-120539724, 120539778-120539784, 120539834-120539840, 120539913-120539939, 120548022-120548058, 120548091-120548097, 120572547, 120572569-120572575, 120572609-120572610, 120611960, 120611964
48HFE210.999219359875111281145416713
49CTSK10.994949494949495990150772181-150772185
50FLG10.28483505662235871512186152275188-152275194, 152275493, 152275695, 152275724, 152275823-152275869, 152275962, 152275967-152275973, 152275976-152275977, 152276038-152276069, 152276103, 152276106-152276109, 152276112, 152276115-152276123, 152276137, 152276149-152276172, 152276198-152276202, 152276233-152276235, 152276250-152276329, 152276340-152276374, 152276415-152276419, 152276454-152276460, 152276464-152276465, 152276473, 152276517-152276550, 152276574-152276607, 152276643-152276667, 152276683-152276702, 152276712-152276754, 152276812-152276849, 152276870-152276876, 152276885-152276886, 152276895, 152276905-152276910, 152276927-152276971, 152277035, 152277070-152277077, 152277084-152277087, 152277091, 152277104-152277110, 152277135, 152277138, 152277165-152277182, 152277185-152277187, 152277205, 152277210, 152277224, 152277234-152277309, 152277319-152277340, 152277354-152277399, 152277407-152277451, 152277490-152277564, 152277584-152277707, 152277736-152277809, 152277819-152277845, 152277861-152277913, 152277920-152277977, 152278001-152278104, 152278112-152278192, 152278202-152278292, 152278310, 152278328-152278329, 152278340-152278358, 152278380-152278440, 152278459-152278571, 152278580, 152278589-152278679, 152278703-152278704, 152278709-152278718, 152278742-152278809, 152278820-152278872, 152278881-152278882, 152278885-152278886, 152278895, 152278908-152278966, 152278973-152279009, 152279016-152279033, 152279039-152279450, 152279463-152279658, 152279667-152279722, 152279741-152279783, 152279795, 152279808-152279853, 152279863-152279886, 152279898-152279929, 152279946-152280297, 152280303-152280389, 152280405-152280475, 152280492, 152280499-152280523, 152280542-152280578, 152280585-152280586, 152280590, 152280602-152280603, 152280625, 152280629-152280633, 152280673-152280674, 152280688-152280767, 152280785-152280882, 152280897-152280953, 152280964-152280984, 152280990-152280995, 152281002, 152281005-152281021, 152281036-152281038, 152281041-152281055, 152281069-152281070, 152281092-152281093, 152281096, 152281104-152281153, 152281185-152281191, 152281219-152281222, 152281225, 152281238-152281291, 152281296, 152281318, 152281328-152281357, 152281377-152281728, 152281761-152281792, 152281824-152281828, 152281836-152281843, 152281855-152281859, 152281865-152281881, 152281884, 152281893-152282062, 152282077-152282216, 152282231-152282336, 152282354, 152282357-152282362, 152282377-152282596, 152282609-152282670, 152282688-152282806, 152282833-152282847, 152282875-152283083, 152283089-152283158, 152283170-152283606, 152283613-152283664, 152283677-152283711, 152283723-152283728, 152283731-152283743, 152283760-152283762, 152283775, 152283798-152283806, 152283828, 152283832-152283917, 152283937-152284481, 152284488-152284791, 152284819-152284866, 152284882-152285234, 152285240-152285284, 152285291-152285420, 152285428-152285710, 152285719-152285721, 152285730-152285919, 152285953-152285977, 152285988-152286018, 152286022-152286024, 152286035-152286045, 152286059-152286064, 152286069-152286070, 152286087-152286103, 152286120-152286126, 152286130, 152286142-152286186, 152286191-152286192, 152286207-152286209, 152286223-152286381, 152286396-152286414, 152286441-152286477, 152286481-152286499, 152286531-152286543, 152286590-152286603, 152286608-152286623, 152286628, 152286639-152286646, 152286656-152286659, 152286703-152286749, 152286772-152286896, 152286915, 152286946-152286973, 152286994-152287048, 152287094, 152287104-152287112, 152287148-152287190, 152287204-152287207, 152287217-152287223, 152287832, 152287840, 152287869, 152287889-152287913
51CHRNB210.9966865473823751509154544228, 154544242-154544243, 154544260-154544261
52GBA10.98579782790309171197155184163, 155184224-155184225, 155184381, 155184427, 155184433, 155184460, 155184888-155184894, 155186203, 155186742, 155186745
53GBA10.96710117939168531611155204842-155204854, 155204986-155204999, 155205040-155205063, 155205100, 155205550
54PKLR10.914202898550721481725155269889-155269898, 155269909-155270007, 155270023, 155270036-155270037, 155270071, 155271087-155271100, 155271141-155271154, 155271180-155271186
55LMNA10.998236331569661567156105830
56LMNA10.9994987468671711995156105830
57SEMA4A10.99518810148731112286156131157-156131167
58NTRK110.938937682977831462391156830727-156830819, 156830845-156830858, 156830877-156830911, 156830935-156830936, 156843475, 156844183
59DARS210.9499484004128971938173794388, 173794396-173794412, 173794420-173794422, 173794447-173794455, 173794468-173794494, 173797523-173797529, 173810098-173810111, 173819509, 173819549-173819563, 173822597-173822599
60NPHS210.98350694444444191152179520469-179520475, 179520502-179520513
61LHX410.9991474850809911173180199687
62RNASEL10.9973045822102462226182551337, 182555132-182555136
63LAMC210.99525404801787173582183189964-183189975, 183190009-183190010, 183191317-183191318, 183192433
64HMCN110.997870830376153616908186007961-186007967, 186010228-186010229, 186077639-186077640, 186077667, 186083988, 186086603, 186086674-186086683, 186086726, 186086729-186086739
65CFH10.98917748917749403696196682884-196682890, 196716334-196716359, 196716389-196716395
66CFHR110.995971802618334993196797238, 196797244, 196801042, 196801078
67CFHR510.9982456140350931710196963210, 196967301, 196967397
68ASPM10.99549549549554710434197069889-197069891, 197071748, 197071931, 197072431, 197072434, 197072557, 197072923-197072924, 197073232, 197073925-197073955, 197086977-197086979, 197091172-197091173
69CACNA1S10.9987548914976975622201022642-201022648
70TNNT210.9864864864864912888201337290-201337301
71IRF610.9943019943019981404209974606-209974613
72USH2A10.999295278365051115609215916629-215916639
73PSEN210.98069784706756261347227071406, 227071588-227071612
74ADCK310.735082304526755151944227149203, 227149208-227149215, 227149242-227149249, 227152713-227152743, 227152800-227152813, 227152839-227152873, 227152878-227152881, 227152899-227152935, 227153032-227153060, 227153385, 227153411-227153424, 227165159-227165166, 227169728-227169731, 227169752-227169796, 227169826-227169828, 227170438-227170464, 227170595-227170596, 227170625-227170638, 227170677-227170729, 227171303-227171334, 227171472-227171530, 227171795-227171827, 227171896-227171920, 227172258-227172265, 227172329-227172333, 227174167-227174174, 227174406-227174412
75GJC210.03181818181818212781320228345466-228345529, 228345554-228345578, 228345584-228346764, 228346772-228346779
76AGT10.9972565157750341458230845848-230845851
77LYST10.99964930738208411406235827869-235827871, 235973225
78ACTN210.97132216014898772685236849974-236849988, 236850013-236850038, 236850078-236850099, 236924406-236924419
79RYR210.998590982286632114904237729916-237729926, 237821244-237821253
80GATA3100.96254681647945013358097681, 8097731, 8097734-8097739, 8097745-8097746, 8100674, 8100728-8100765, 8100782
81OPTN100.9936562860438311173413151239-13151244, 13151250-13151253, 13151268
82CUBN100.9998160412067721087217107537, 17142091
83PTF1A100.4589665653495453498723481460-23481464, 23481501-23481557, 23481563-23481595, 23481622-23481635, 23481642-23481780, 23481791-23481827, 23481838-23481994, 23482001-23482032, 23482057, 23482088-23482111, 23482115-23482145, 23482158, 23482182, 23482237, 23482708
84MYO3A100.999793856936711485126500878
85PDSS1100.9807692307692324124826986653, 26986747-26986769
86MASTL100.997345468335237263727469966-27469972
87RET100.9760837070254180334543572707-43572779, 43606856-43606857, 43610148-43610151, 43619238
88ERCC6100.999553770638112448250740792-50740793
89CHAT100.9817534490431741224750822236-50822243, 50822274-50822275, 50822356-50822358, 50822363-50822385, 50822388-50822389, 50857562-50857563, 50863206
90EGR2100.997204751921734143164573471-64573473, 64573486
91NODAL100.9894636015325711104472201231-72201237, 72201285-72201287, 72201396
92PRF1100.9838129496402927166872358179, 72358252-72358276, 72360648
93SLC29A3100.82422969187675251142873082578-73082584, 73103966-73103969, 73104006, 73104009, 73104038, 73111368, 73111479, 73115838-73115840, 73115939-73115978, 73121913, 73121922-73121938, 73121945, 73121949-73121951, 73121976, 73122008-73122042, 73122103-73122134, 73122146-73122165, 73122193-73122224, 73122246, 73122275-73122282, 73122325-73122365
94CDH23100.8520286396181414881005673405671-73405691, 73406225-73406233, 73406281, 73406331-73406345, 73434912-73434918, 73437407, 73437423, 73437433-73437436, 73439152, 73439177-73439209, 73439227-73439238, 73439245-73439246, 73442232-73442258, 73447404-73447476, 73450238-73450241, 73450268-73450298, 73453904-73453928, 73453941, 73453951-73454006, 73455175-73455201, 73455225-73455282, 73461779-73461968, 73462306-73462451, 73464668-73464843, 73464865-73464887, 73466654-73466675, 73466684-73466687, 73466697-73466736, 73466742-73466801, 73468855-73468867, 73468879-73468888, 73468892-73468902, 73468911-73468937, 73468951-73468968, 73472433-73472461, 73472470-73472475, 73472480, 73472489-73472542, 73490270-73490275, 73490300-73490356, 73491941-73491942, 73492108-73492118, 73494001-73494006, 73494067-73494069, 73494085, 73494088-73494090, 73498340-73498341, 73499425-73499429, 73499465-73499475, 73501462-73501465, 73567321, 73569816-73569817, 73571081-73571113, 73571327-73571330, 73572250, 73572308-73572332, 73572616-73572622, 73574811-73574820, 73574838-73574851, 73574995-73575035
95PSAP100.998730158730162157573578427, 73579509
96MAT1A100.9671717171717239118882034823-82034824, 82036148-82036160, 82043681, 82043685-82043700, 82043754-82043760
97LDB3100.6790293040293701218488428449-88428492, 88428528, 88428533-88428539, 88439124-88439125, 88439140, 88439873, 88439887, 88439899-88439914, 88441193-88441206, 88441210, 88441224-88441226, 88441240-88441243, 88441246, 88441254-88441257, 88441260-88441261, 88441265, 88441316-88441332, 88441350, 88441354-88441374, 88441394-88441395, 88441401-88441407, 88441432-88441530, 88441544-88441555, 88441559-88441560, 88451653-88451665, 88451708-88451715, 88451782, 88451787-88451789, 88466288-88466318, 88466351-88466411, 88466422-88466444, 88466451-88466476, 88469683, 88469704-88469753, 88469797, 88476084-88476110, 88476127-88476198, 88476235, 88476275-88476313, 88476327-88476329, 88476377-88476406, 88476442, 88476461-88476499, 88476505-88476511
98BMPR1A100.9893683552220117159988683133-88683149
99GLUD1100.999403697078121167788854393
100PTEN100.99834983498352121289720651-89720652
101FAS100.999007936507941100890771829
102PLCE1100.9985526125343810690995892078, 95987153-95987155, 96005930, 96005934, 96043650-96043653
103HPS1100.938746438746441292106100177329, 100177333-100177341, 100177344, 100177362-100177426, 100177471-100177483, 100178011-100178014, 100189588-100189595, 100189633-100189639, 100193751-100193771
104ABCC2100.998275118585684638101591816-101591818, 101594273-101594276, 101595989
105CPN1100.9941902687000781377101802275, 101816783-101816789
106C10orf2100.9965936739659472055102747999, 102748280, 102748721-102748724, 102750252
107FBXW4100.873284907183211571239103371464, 103436193, 103454138-103454150, 103454168, 103454192-103454237, 103454246, 103454262-103454345, 103454358-103454363, 103454377-103454380
108HPS6100.890463917525772552328103825268-103825287, 103825292, 103825295, 103825306-103825333, 103825377-103825411, 103825439-103825478, 103825509-103825530, 103825533, 103825554, 103825574-103825580, 103825727-103825735, 103825774, 103825782-103825797, 103825802-103825803, 103825817-103825820, 103826055-103826102, 103826166-103826179, 103826217, 103826978, 103826982, 103826997, 103827443
109SUFU100.97250859106529401455104263910-104263912, 104263963-104263965, 104263980-104264004, 104309856, 104352405, 104352418-104352419, 104353430, 104356981, 104356994, 104359261, 104359270
110COL17A1100.902314196706724394494105792011-105792036, 105792435-105792451, 105792469-105792492, 105792726, 105793032-105793044, 105793703-105793726, 105793812-105793833, 105793898-105793946, 105794015-105794017, 105794047-105794066, 105794385-105794413, 105794482-105794483, 105795021-105795038, 105795057-105795078, 105795094-105795122, 105795259, 105795285-105795316, 105796388, 105796819, 105796836-105796844, 105797462, 105798180-105798188, 105798192, 105798196, 105798200-105798202, 105800165, 105803331-105803333, 105812795, 105816780-105816791, 105816808-105816853, 105816899-105816916
111HABP2100.98811645870469201683115341846-115341864, 115341887
112EMX2100.989459815546778759119302954-119302961
113BAG3100.942129629629631001728121411188-121411199, 121411207-121411208, 121411218-121411229, 121411260-121411281, 121411287-121411288, 121411335-121411367, 121436081-121436083, 121436208-121436215, 121436381-121436386
114HTRA1100.785169785169793101443124221169-124221178, 124221191-124221233, 124221241-124221304, 124221311-124221341, 124221352-124221435, 124221475-124221502, 124221510-124221512, 124221571-124221608, 124221632-124221640
115ACADSB100.9984603541185521299124810701-124810702
116UROS100.981203007518815798127477437-127477451
117HRAS110.55789473684211252570532636-532653, 532680-532686, 532698-532735, 533465-533466, 533471, 533474, 533482, 533547, 533582, 533596-533612, 533780-533836, 533863-533944, 534242, 534246-534259, 534312-534322
118TALDO1110.899408284023671021014747482-747500, 747525-747573, 763345-763346, 763362, 763404-763416, 763420-763423, 763496, 763759, 763763, 763867-763875, 764288-764289
119SLC25A22110.41152263374486572972791919-791955, 792021-792044, 792055-792068, 792142-792177, 792189-792200, 792208-792217, 792334-792368, 792404-792438, 792453-792458, 792553-792695, 792709-792721, 792725-792727, 792870-792988, 794493-794513, 794776-794806, 794819-794822, 794869-794881, 794887-794901, 794998
120PNPLA2110.433663366336638581515819719-819757, 819769-819771, 819778-819905, 821707-821709, 821713-821718, 821729-821776, 821790-821827, 821998, 822001-822009, 822013-822023, 822467-822508, 823531-823587, 823742, 823745, 823749-823751, 823763-823784, 823804-823829, 823847-823855, 823998-824030, 824033-824039, 824056-824130, 824314-824349, 824378, 824413-824436, 824523-824562, 824569-824578, 824600-824622, 824639-824640, 824643-824644, 824647-824688, 824706-824743, 824775-824823, 824834-824862
121CTSD110.6230831315577146712391774749, 1774776, 1774781-1774790, 1774809, 1774839-1774900, 1775033-1775046, 1775131, 1775224-1775232, 1775247-1775253, 1775261-1775294, 1775308-1775309, 1775342-1775368, 1776136-1776142, 1778554-1778585, 1778594, 1778613-1778633, 1778668-1778670, 1778734, 1778739, 1778755, 1778761, 1778767-1778769, 1780236-1780293, 1780301-1780307, 1780760-1780780, 1780793, 1780807-1780808, 1780814, 1780860-1780869, 1782539-1782545, 1782629-1782693, 1785022-1785023, 1785037-1785089
122TNNI2110.306010928961753815491861454-1861468, 1861633-1861674, 1861758-1861886, 1862049-1862107, 1862132-1862138, 1862261-1862280, 1862307-1862310, 1862321-1862351, 1862356-1862358, 1862361-1862364, 1862372-1862388, 1862415, 1862424, 1862427-1862430, 1862702-1862737, 1862764, 1862773-1862779
123TNNT3110.129987129987136767771946329-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953704-1953716, 1953720, 1953730, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955837, 1955846-1955885, 1956059-1956096, 1956108-1956149, 1958195-1958233, 1959668-1959722
124H19110.698412698412732310712017374-2017401, 2017421, 2017634, 2017749-2017769, 2017782-2017807, 2017816-2017847, 2017854-2017896, 2017973-2017985, 2017993-2018002, 2018005-2018007, 2018013-2018019, 2018033-2018078, 2018168, 2018201-2018231, 2018246-2018253, 2018275-2018281, 2018324-2018366, 2018381, 2018386
125IGF2110.00984528832630097047112154217-2154453, 2154747-2154826, 2154834-2154895, 2156597-2156759, 2161365-2161526
126TH110.058412698412698148315752185463-2185622, 2186462-2186595, 2186910-2186993, 2187232-2187288, 2187710-2187721, 2187732-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189409, 2189721-2189872, 2189895, 2190880-2190940, 2190950-2190951, 2190960-2190998, 2191011-2191101, 2191920-2192000, 2192927-2192949, 2192967-2193014
127KCNQ1110.49236829148203103120312466329-2466442, 2466459-2466714, 2591858-2591868, 2591871, 2591881-2591953, 2591968, 2591971, 2591976-2591984, 2592555-2592594, 2592618-2592633, 2593243-2593339, 2594076-2594086, 2594110-2594193, 2594203-2594216, 2604665-2604666, 2604684-2604735, 2604757-2604772, 2606461-2606462, 2606474, 2606485, 2606508-2606537, 2608810-2608854, 2608878-2608909, 2608915-2608922, 2609979, 2609985-2610001, 2610011, 2610029, 2610036-2610037, 2610041-2610042, 2610078, 2683191-2683205, 2683209, 2683218, 2683256, 2683273-2683274, 2683279-2683295, 2683307-2683311, 2790129-2790149, 2869105-2869129, 2869231
128CDKN1C110.00736067297581499449512905234-2905364, 2905900-2906712
129HBD110.9842342342342374445255652-5255658
130SMPD1110.994198312236291118966411931-6411941
131TPP1110.8670212765957422516926635783, 6635893-6635900, 6636097-6636101, 6636110, 6636125, 6636148-6636161, 6636198-6636201, 6636402-6636417, 6636424-6636425, 6636437, 6636488-6636512, 6636529-6636530, 6636541-6636552, 6636556, 6636675-6636679, 6636702, 6636754-6636757, 6636768-6636793, 6637632-6637634, 6637644-6637650, 6637678, 6637689-6637696, 6637702-6637711, 6637999-6638010, 6638365, 6638652-6638659, 6638886-6638895, 6638964-6638973, 6639007, 6640063-6640065, 6640437-6640458
132SBF2110.997297297297315555010022483-10022488, 10022495-10022497, 10022562-10022567
133KCNJ11110.9906223358908811117317409127-17409137
134ABCC8110.97408343868521123474617415826, 17415830-17415831, 17415836, 17415878-17415890, 17416729-17416733, 17417234-17417265, 17417416, 17419276-17419279, 17419926, 17424278, 17424287-17424288, 17491702, 17496544, 17498193-17498195, 17498200-17498216, 17498286-17498323
135USH1C110.993703703703717270017517155-17517161, 17565819-17565828
136LDHA110.950950950950954999918418415-18418431, 18418436, 18418488, 18422423, 18422435, 18422485-18422512
137PAX6110.998423955870762126931824313-31824314
138WT1110.9491634491634579155432449502-32449516, 32456306-32456328, 32456716-32456739, 32456756, 32456759, 32456812-32456820, 32456848-32456853
139ALX4110.9215210355987197123644286447-44286449, 44286566, 44286575-44286578, 44286612, 44331147-44331166, 44331215-44331236, 44331261-44331292, 44331309, 44331583-44331594, 44331607
140SLC35C1110.9810606060606120105645827423-45827427, 45827430-45827437, 45827442, 45827827-45827830, 45832509, 45832738
141PEX16110.53794428434198481104145931670-45931675, 45931692-45931728, 45932452-45932459, 45932462-45932479, 45932494, 45932513, 45935379, 45935384, 45935401-45935416, 45935422-45935427, 45935449-45935451, 45935455-45935458, 45935685-45935754, 45935867-45935884, 45935911-45936008, 45936196, 45937049-45937050, 45937054, 45937340-45937383, 45937824-45937847, 45939013-45939044, 45939252-45939338, 45939361-45939362
142F2110.9481005885500397186946742084-46742089, 46747455, 46747495, 46747550-46747554, 46747567-46747577, 46747608-46747630, 46747716-46747717, 46748063-46748083, 46748357-46748369, 46750237, 46750375-46750387
143MADD110.94983818770227248494447296369, 47296500-47296507, 47296535-47296547, 47296606, 47296626-47296637, 47297477-47297502, 47297652, 47297719-47297721, 47297724, 47297728-47297731, 47298408, 47304428-47304444, 47306492-47306533, 47306586, 47306689-47306693, 47307007-47307054, 47307093-47307114, 47308013-47308021, 47310963, 47311428-47311432, 47311464-47311475, 47311505-47311510, 47311515, 47311518, 47312326-47312329, 47312335, 47345880, 47350637
144MYBPC3110.715032679738561090382547353644-47353678, 47353722-47353726, 47354137, 47354144-47354162, 47354194-47354214, 47354420-47354442, 47354475-47354481, 47354770-47354772, 47354783, 47354821, 47354859, 47355159, 47355534-47355542, 47356635, 47356639, 47356644, 47356758, 47357487-47357494, 47359336, 47361249-47361250, 47362722, 47362751-47362795, 47363603, 47363653, 47363703-47363707, 47364154-47364201, 47364242-47364244, 47364390-47364402, 47364447-47364479, 47364618, 47364624, 47364666, 47364680-47364685, 47365057-47365070, 47365106, 47367758-47367821, 47367829-47367878, 47367885-47367898, 47367907, 47367910-47367913, 47367917, 47368186-47368195, 47368980-47369006, 47369203-47369207, 47369217, 47369409-47369412, 47369425, 47369435-47369456, 47369975-47370092, 47371325-47371352, 47371362-47371389, 47371404-47371416, 47371428-47371473, 47371575-47371628, 47371642, 47371649-47371659, 47372053-47372056, 47372066-47372069, 47372079-47372166, 47372825-47372861, 47372876-47372953, 47372955, 47372958-47372982, 47373000, 47373013, 47373020, 47373045-47373046, 47373053-47373056, 47374174-47374198
145SLC39A13110.6836917562724353111647431695-47431733, 47431743-47431773, 47431811, 47431814, 47433899, 47433918-47433919, 47433930, 47433995, 47433998, 47434972-47434978, 47434986, 47435006-47435018, 47435024, 47435031-47435032, 47435041-47435058, 47435148-47435156, 47435173-47435218, 47435980-47436022, 47436328-47436333, 47436371-47436390, 47436424-47436432, 47436443-47436446, 47436451, 47436590-47436609, 47436646, 47436656, 47436685-47436699, 47436708, 47436839-47436895
146RAPSN110.79257465698144257123947459568, 47460293-47460300, 47460306, 47460333, 47460338, 47460350-47460393, 47460402-47460406, 47460415-47460468, 47460475-47460482, 47462751, 47462755-47462763, 47463206-47463213, 47463252, 47463256, 47463381, 47463405, 47463410-47463425, 47463468, 47464247-47464252, 47464255, 47464270, 47464363, 47469388, 47469439-47469456, 47469464, 47469479, 47469531-47469552, 47469575-47469578, 47469623, 47469647-47469648, 47470409, 47470422-47470450, 47470486, 47470489, 47470495-47470497, 47470502
147NDUFS3110.99622641509434379547600823-47600825
148SDHAF2110.974051896207581350161213461-61213467, 61213472-61213477
149BEST1110.994880546075099175861719301, 61719309, 61727497-61727503
150BSCL2110.998560115190782138962457963, 62458585
151SLC22A12110.55655836341757737166264359081-64359083, 64359110-64359116, 64359121-64359136, 64359143-64359146, 64359160-64359161, 64359181, 64359286, 64359296-64359314, 64359339-64359388, 64359414-64359430, 64360270-64360285, 64360298-64360342, 64360877-64360897, 64360919, 64360927-64360930, 64360935, 64360986-64361016, 64361112-64361148, 64361166-64361180, 64361186, 64361192, 64361212-64361236, 64361270-64361271, 64365988-64366046, 64366283-64366323, 64366349-64366376, 64367148-64367203, 64367218-64367290, 64367294, 64367316-64367331, 64367354-64367362, 64367843-64367850, 64367860-64367864, 64367922-64367923, 64367932, 64368207-64368252, 64368265-64368281, 64368336-64368352, 64368376-64368382, 64368960-64368968, 64368991-64369012
152PYGM110.82997232107552430252964514142-64514143, 64514218, 64514221-64514222, 64518020-64518050, 64518821-64518832, 64519080, 64520558-64520604, 64520629, 64520991-64520994, 64521002-64521067, 64521087-64521126, 64521351, 64521381-64521436, 64521476, 64521489, 64521725-64521748, 64521754-64521771, 64521776, 64522165-64522199, 64522306, 64522979-64522982, 64523022-64523030, 64525812-64525821, 64526163, 64526167-64526176, 64527128-64527130, 64527149-64527159, 64527240-64527241, 64527312-64527346
153MEN1110.976731601731643184864572089-64572103, 64577233-64577247, 64577535-64577547
154EFEMP2110.9774774774774830133265635866-65635892, 65639470, 65639487, 65639732
155CST6110.942222222222222645065779654-65779657, 65780335, 65780338-65780344, 65780348, 65780408-65780419, 65780797
156SPTBN2110.90059947023561713717366454605, 66455687, 66460702, 66460710-66460721, 66460840, 66463973, 66464009, 66468005-66468006, 66468017, 66468022-66468060, 66468117-66468148, 66468195-66468202, 66468214-66468271, 66468284-66468286, 66468298-66468308, 66468349-66468352, 66468363-66468364, 66468369, 66468390-66468398, 66468405-66468417, 66468465-66468497, 66468533-66468540, 66468543, 66468550, 66468568-66468597, 66468613-66468651, 66468674-66468716, 66468728-66468739, 66469117-66469119, 66469123-66469125, 66469129-66469133, 66469176-66469178, 66472072, 66472144, 66472160, 66472193-66472194, 66472206-66472207, 66472215-66472224, 66472274, 66472286, 66472297, 66472408-66472421, 66472479, 66472519, 66472561-66472597, 66472604-66472608, 66472630-66472643, 66472680-66472681, 66472696-66472697, 66472709-66472746, 66472772-66472773, 66472893-66472896, 66472899, 66473211, 66473244, 66473254, 66475033-66475079, 66475131, 66475141, 66475191, 66475207-66475229, 66475242-66475287, 66475652, 66475665, 66475668-66475683, 66475719, 66475739-66475770, 66478176, 66481175, 66481178, 66481787-66481793, 66483301-66483307
157PC110.9932145886344424353766618565-66618568, 66618573, 66620037-66620041, 66620044, 66620068-66620069, 66620072, 66620083, 66633659, 66633663, 66633677-66633678, 66633682, 66639190-66639193
158CABP4110.923913043478266382867222986-67223006, 67223083, 67223098-67223109, 67223129-67223136, 67223169-67223173, 67223241-67223243, 67223661, 67225149, 67225902, 67225954-67225963
159AIP110.303121852970869299367254477, 67254480, 67254501, 67254510, 67254524-67254549, 67254602, 67254605, 67256738-67256824, 67256842-67256887, 67256895-67256926, 67257509-67257685, 67257787-67257928, 67258259-67258398, 67258429-67258464
160NDUFS8110.1153238546603556063367799619-67799675, 67799770-67799803, 67800390-67800479, 67800578-67800750, 67803720-67803759, 67803791-67803839, 67803929-67803997, 67804005-67804038, 67804047-67804060
161TCIRG1110.0509426393902932366249367808739-67808855, 67809220-67809298, 67810110-67810330, 67810413-67810498, 67810838-67810964, 67811038-67811120, 67811281-67811374, 67811599-67811811, 67812425-67812464, 67812490-67812569, 67814900-67814954, 67814965-67815039, 67815114-67815271, 67815349-67815370, 67815381-67815439, 67816346-67816417, 67816424-67816428, 67816431, 67816459-67816464, 67816548-67816591, 67816611-67816687, 67816697-67816698, 67816707-67816761, 67817130-67817165, 67817177-67817255, 67817429-67817533, 67817604-67817721, 67817954-67818131, 67818208-67818286
162LRP5110.91996699669967388484868080183-68080273, 68131255, 68131299, 68131361, 68131375, 68153920, 68153923-68153925, 68177506-68177519, 68181225, 68201220, 68204397-68204420, 68205950-68205951, 68206045, 68206073, 68206083-68206085, 68206124, 68207259, 68207309, 68207334-68207384, 68213912, 68213936-68213980, 68213999-68214000, 68216277-68216280, 68216307-68216329, 68216338-68216354, 68216359, 68216362-68216373, 68216390-68216427, 68216436-68216440, 68216448, 68216459, 68216465-68216470, 68216483, 68216496, 68216501, 68216505-68216506, 68216509-68216535
163CPT1A110.9590869939707195232268527752-68527754, 68540733-68540751, 68540796-68540807, 68540823-68540832, 68540838, 68540841-68540844, 68540854, 68552287-68552326, 68552382-68552385, 68552461
164IGHMBP2110.9859154929577542298268671458-68671479, 68682399-68682416, 68682484, 68704536
165DHCR7110.9810924369747927142871146528-71146542, 71146585, 71146690-71146691, 71148985, 71149979-71149986
166LRTOMT110.979452054794521887671816017-71816034
167MYO7A110.663056558363422240664876841681-76841697, 76858854-76858885, 76858897-76858943, 76858987-76858996, 76867085-76867101, 76867122, 76867706-76867736, 76867929-76867957, 76867984-76867985, 76868015-76868024, 76869405-76869411, 76869471, 76870534-76870536, 76871269, 76871282-76871285, 76873252-76873256, 76873345, 76873350, 76874011-76874023, 76877150-76877183, 76883794-76883795, 76883816-76883896, 76883906-76883931, 76885802-76885821, 76885829-76885960, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895635, 76895656-76895684, 76895691-76895760, 76900402-76900412, 76900438-76900466, 76900491-76900515, 76901065-76901077, 76901083-76901120, 76901141-76901184, 76901742-76901747, 76901754-76901755, 76901780-76901782, 76901808-76901816, 76901854, 76903124-76903130, 76903218-76903225, 76903258-76903300, 76903303, 76908526-76908546, 76908591, 76909547, 76909561-76909570, 76909574-76909576, 76909601, 76909605-76909606, 76909616-76909619, 76909632-76909634, 76909645-76909666, 76910582, 76910590, 76910780-76910787, 76914239, 76918341, 76919506-76919512, 76922252, 76922296, 76922324
168FZD4110.9553903345724972161486665898-86665916, 86666028-86666052, 86666081, 86666084-86666104, 86666122-86666127
169TRPC6110.99356223175966182796101347093, 101454126-101454131, 101454135-101454136, 101454167-101454174, 101454199
170DYNC2H1110.999150251062191112945103114517-103114520, 103173928-103173934
171ACAT1110.9961059190031251284108002634-108002638
172ATM110.99171300839603769171108098503, 108098565-108098567, 108098615, 108142114-108142123, 108143280-108143291, 108143525, 108150256, 108150326-108150327, 108153543-108153549, 108154962, 108159779-108159785, 108160329-108160336, 108160448, 108160491-108160508, 108205716-108205717, 108216635
173ALG9110.9994553376906311836111742120
174DRD2110.9977477477477531332113281449-113281451
175APOA1110.9713930348258723804116706795-116706803, 116706846-116706852, 116706855, 116706858, 116706861-116706865
176FXYD2110.24429223744292331438117693020-117693022, 117693051, 117693054, 117693075-117693143, 117693161-117693213, 117693233-117693385, 117693391-117693422, 117693432, 117695369-117695377, 117695385-117695393
177SCN4B110.9810771470160113687118014593, 118014597-118014599, 118015794-118015798, 118023330, 118023364, 118023368, 118023387
178TECTA110.99628770301624246465120979923-120979942, 120984265, 120984329-120984330, 120984333
179ROBO3110.98365777457342684161124735487-124735491, 124735527-124735554, 124735608-124735614, 124735625-124735633, 124738761-124738762, 124738841-124738845, 124738884, 124738905, 124738967-124738973, 124739400, 124749132, 124749136
180WNK1120.946845712687093807149862745-862749, 862752-862759, 862799-862891, 862899-862931, 862941-862968, 862976-863000, 863071-863094, 863103-863145, 863171-863217, 863230-863237, 863253-863307, 863327, 863339-863342, 863425-863430
181CACNA2D4120.992384299941422634141904915-1904921, 1906656-1906660, 1995203-1995205, 2027529-2027539
182CACNA1C120.9704313366864819465612622097-2622098, 2622130, 2676756, 2676763-2676774, 2676811-2676845, 2676870, 2676940-2676941, 2774010, 2774023-2774033, 2774041-2774042, 2774058-2774073, 2774117-2774120, 2783767-2783804, 2788726-2788731, 2788734, 2791763, 2791818-2791825, 2794934-2794940, 2795364-2795370, 2797820, 2797824-2797827, 2797883-2797906, 2800347-2800355
183VWF120.998104714522621684426131926-6131932, 6132006, 6132009-6132010, 6132030, 6166081, 6230434-6230437
184TNFRSF1A120.8669590643274918213686438478-6438492, 6438551-6438557, 6438567-6438630, 6438643-6438663, 6438670-6438693, 6438777-6438786, 6438971-6438973, 6438980-6438996, 6438999-6439000, 6450942-6450958, 6450972-6450973
185SCNN1A120.8459076360310933721876457039-6457041, 6457044-6457046, 6457072, 6457076, 6457085-6457122, 6457134-6457135, 6457224, 6457234, 6457238, 6457251-6457253, 6457258, 6457263-6457266, 6457281, 6457296, 6457302, 6457307-6457347, 6457378-6457395, 6457902-6457926, 6457953-6457962, 6458330-6458332, 6458366-6458387, 6458496-6458499, 6458508-6458511, 6458527-6458528, 6458538, 6458541, 6458566-6458571, 6463631-6463632, 6463635-6463636, 6463657-6463684, 6463696, 6463699, 6463707-6463721, 6464439-6464448, 6464485-6464488, 6464507-6464535, 6464565-6464573, 6464582-6464591, 6464948-6464959, 6465040-6465046, 6472670-6472675, 6472706-6472707
186TPI1120.97333333333333207506976833-6976845, 6979275-6979281
187ATN1120.980968373915486835737045892-7045894, 7045918, 7047139-7047145, 7050157-7050170, 7050601-7050610, 7050639-7050642, 7050647-7050650, 7050919-7050943
188GYS2120.9872159090909127211221733366-21733392
189ABCC9120.999784946236561465022078919
190KRAS120.7824561403508812457025378642-25378659, 25380171-25380208, 25380235-25380263, 25380274-25380304, 25380320-25380324, 25380337, 25380340-25380341
191DNM1L120.94979647218453111221132832299-32832325, 32832391-32832399, 32866150-32866158, 32866183, 32866186-32866214, 32866222, 32866233-32866259, 32871669, 32873627, 32873709-32873712, 32875433-32875434
192PKP2120.95465393794749114251433031152-33031168, 33049443-33049447, 33049455-33049458, 33049484-33049485, 33049502, 33049514, 33049518, 33049529-33049533, 33049540-33049575, 33049595, 33049608-33049644, 33049662-33049665
193KIF21A120.9973926995587613498639726783-39726795
194LRRK2120.999736286919832758440646743, 40646750
195VDR120.9524922118380161128448249464, 48249576-48249582, 48251310, 48251336-48251385, 48258904, 48258907
196COL2A1120.9941756272401426446448373330-48373347, 48373837, 48393902-48393908
197MLL2120.8944263873841317541661449415848-49415865, 49415921-49415922, 49415926-49415929, 49416101-49416105, 49416109-49416110, 49416418-49416421, 49416424-49416425, 49416455, 49416458, 49416470, 49416475, 49416516, 49416547, 49416568-49416569, 49418395-49418396, 49418416-49418417, 49418456, 49418459, 49418597-49418598, 49418613, 49418677, 49418712-49418729, 49420117-49420119, 49420146-49420150, 49420343-49420375, 49420399-49420402, 49420512-49420514, 49420567, 49420591, 49420596-49420606, 49420649-49420666, 49420738-49420744, 49420767-49420778, 49420790, 49420886-49420889, 49420931, 49421057-49421077, 49421586-49421605, 49421612-49421650, 49421829-49421852, 49421889-49421890, 49421921-49421924, 49422618-49422620, 49422623-49422634, 49422854-49422857, 49422892-49422895, 49423184-49423190, 49423194-49423202, 49423238-49423251, 49424063, 49424102-49424151, 49424164-49424185, 49424396, 49424455-49424464, 49424469-49424470, 49424519-49424528, 49424683-49424688, 49424754-49424786, 49424811, 49424979-49424981, 49425032, 49425035-49425036, 49425056-49425135, 49425152-49425153, 49425185-49425195, 49425252-49425267, 49425337-49425338, 49425400-49425402, 49425405-49425419, 49425432-49425441, 49425564-49425566, 49425578, 49425590-49425633, 49425639-49425693, 49425771, 49425775-49425802, 49425824-49425862, 49425865, 49425872, 49425889-49425919, 49425952-49425959, 49426086-49426103, 49426142-49426195, 49426216, 49426270-49426290, 49426315-49426337, 49426372-49426380, 49426438-49426493, 49426501-49426532, 49426560-49426579, 49426608-49426620, 49426623-49426634, 49426687-49426697, 49426726-49426801, 49426810-49426858, 49426893-49426932, 49426955-49426971, 49427018-49427079, 49427106-49427114, 49427121-49427129, 49427151-49427172, 49427194-49427235, 49427263-49427299, 49427310-49427320, 49427443-49427450, 49427508, 49427518-49427543, 49427558-49427581, 49427632-49427635, 49427638-49427642, 49427661-49427691, 49427731, 49427735, 49427850-49427888, 49427958, 49428243-49428245, 49430987-49430996, 49431229-49431235, 49431306-49431321, 49431505, 49431510-49431539, 49431599, 49431733, 49431847-49431848, 49431858-49431874, 49431947-49431949, 49431990-49431996, 49432206-49432211, 49433092-49433098, 49433245-49433246, 49433314-49433317, 49433324, 49434060-49434070, 49434074, 49434154-49434158, 49434520
198TUBA1A120.85307017543866745649522235-49522268, 49522284-49522314, 49522575, 49522587
199KRT81120.67391304347826495151852680054-52680056, 52680129-52680138, 52680206, 52680263, 52680274-52680277, 52680907-52680910, 52681036-52681052, 52681407, 52681437, 52681816-52681849, 52681916-52681919, 52681923-52681925, 52683041-52683059, 52683877-52683884, 52683908-52683909, 52683919-52684005, 52684016-52684070, 52684898-52684915, 52684942-52684946, 52684950, 52684955-52684959, 52684963, 52684998, 52685002-52685003, 52685014-52685087, 52685100-52685139, 52685156-52685249
200KRT86120.65092402464066510146152695738-52695739, 52695750-52695754, 52695761-52695762, 52695769-52695842, 52695852, 52695862-52695865, 52695872-52695882, 52695896-52695927, 52695946-52695973, 52696007-52696053, 52696884-52696938, 52696952, 52696962-52697023, 52697066-52697092, 52697895-52697918, 52697942-52697955, 52698732-52698763, 52699030-52699045, 52699107-52699165, 52699179, 52699542-52699551, 52699955, 52702192, 52702195
201KRT6B120.995870206489687169552844397-52844403
202KRT6C120.999410029498531169552867416
203KRT2120.9661458333333365192053039050, 53044267, 53045346-53045356, 53045481, 53045500, 53045570, 53045616-53045621, 53045705-53045719, 53045773-53045796, 53045859-53045860, 53045871-53045872
204KRT1120.9896640826873420193553069229, 53070145, 53070155-53070170, 53072484-53072485
205AAAS120.93845216331505101164153701405, 53701653-53701656, 53702257-53702259, 53703420-53703451, 53708099, 53708142, 53708151-53708153, 53708158, 53708163, 53708170, 53708194, 53708212-53708215, 53708536-53708558, 53708878-53708894, 53709192-53709198, 53709537
206ITGA7120.9859894921190948342656081779, 56086652-56086698
207RDH5120.960292580982243895756114969, 56114977-56114982, 56115014-56115017, 56115067, 56115213-56115219, 56115278, 56115606-56115620, 56118106-56118108
208MYO1A120.999361430395912313257436876-57436877
209KIF5A120.9854791868344645309957944101, 57944143-57944151, 57944162-57944165, 57957297, 57957931, 57957980, 57960962-57960963, 57960970, 57963062-57963073, 57963142, 57963366-57963371, 57965889, 57965975-57965978, 57971844
210TSFM120.99693251533742397858176954-58176955, 58190119
211GNS120.9572031344183271165965146481-65146484, 65152865-65152905, 65152915, 65152974-65152978, 65152989, 65153007-65153008, 65153014-65153025, 65153051, 65153053-65153056
212LEMD3120.999269005847952273665563996-65563997
213CEP290120.98548387096774108744088443077-88443123, 88472959, 88519084, 88519087, 88520111, 88520190-88520192, 88523503, 88532968, 88533327, 88534733-88534749, 88534756, 88535052-88535084
214TMPO120.9616306954436580208598909886-98909924, 98925556, 98925593-98925616, 98926615-98926618, 98926703-98926709, 98927722, 98927772, 98927830, 98927880-98927881
215SLC25A3120.90633608815427102108998987795-98987835, 98987858-98987868, 98989276-98989284, 98989299, 98992463, 98994966-98995004
216GNPTAB120.9997348183505713771102155446
217MMAB120.997343957503322753110011220-110011221
218MVK120.98572628043661171191110028599-110028603, 110034246, 110034249, 110034321-110034330
219TRPV4120.933486238532111742616110221466-110221468, 110221556, 110221561, 110224592, 110224606-110224639, 110232250, 110234502, 110236568-110236576, 110238437-110238438, 110240946, 110246101-110246138, 110246173-110246174, 110246177-110246178, 110246181-110246186, 110246220, 110252219-110252236, 110252348-110252351, 110252424-110252434, 110252540-110252547, 110252572-110252601
220ATP2A2120.9984020453819153129110719673-110719677
221ATXN2120.817605276509397193942111891495-111891528, 112036588-112036682, 112036688-112036840, 112036848-112037137, 112037143-112037162, 112037187-112037298, 112037304-112037318
222PTPN11120.9988776655443321782112856928-112856929
223SDS120.89868287740628100987113830762, 113835144-113835180, 113836370-113836405, 113836575-113836598, 113836624-113836625
224HNF1A120.922468354430381471896121416597, 121434184-121434204, 121434437-121434477, 121435292-121435294, 121435356-121435359, 121435424, 121437304-121437319, 121437361-121437362, 121437378-121437384, 121437404, 121438881-121438885, 121438891-121438893, 121438904, 121438920, 121438947-121438984, 121438994-121438995
225HPD120.98054145516074231182122294296-122294297, 122294508-122294526, 122295702, 122296619
226PUS1120.98598130841122181284132414506-132414513, 132414524, 132426073, 132426089-132426091, 132426314-132426318
227SACS130.99759825327511331374023913004-23913008, 23930055, 23949306-23949312, 23949358-23949360, 23949380-23949389, 23949391-23949397
228CENPJ130.9952701020662219401725466841-25466859
229B3GALTL130.9605878423513759149731774222-31774226, 31774250-31774252, 31897906-31897950, 31903735-31903740
230SPG20130.9695152423788161200136909298, 36909416-36909427, 36909660-36909668, 36909704-36909709, 36909882-36909914
231FREM2130.9898002103049497951039261565-39261569, 39261625-39261676, 39261772-39261781, 39261793, 39261843-39261849, 39261948-39261969
232EDNRB130.998495109104592132978492254, 78492418
233GPC6130.9670263788968855166893879759-93879761, 93879868-93879869, 95034726-95034744, 95034760-95034790
234ZIC2130.87804878048781951599100634393-100634415, 100634419-100634422, 100634444-100634450, 100634521-100634534, 100634579-100634584, 100634591, 100634595-100634599, 100634822-100634824, 100634828, 100634883-100634886, 100635008-100635013, 100635061, 100635064, 100635069, 100637577-100637578, 100637656-100637661, 100637698, 100637701-100637760, 100637801-100637817, 100637825-100637827, 100637840-100637843, 100637846, 100637850, 100637853-100637858, 100637911-100637918, 100637928-100637936
235PCCA130.97485139460448552187100741466, 101101506-101101559
236COL4A1130.99261477045908375010110822060, 110829270, 110959291-110959308, 110959338-110959340, 110959348-110959350, 110959356, 110959365-110959374
237F7130.03520599250936312881335113760156-113760219, 113765004-113765164, 113768066-113768069, 113768075-113768090, 113768161-113768162, 113768186-113768268, 113769974-113770114, 113771080-113771132, 113771146-113771189, 113771787-113771910, 113772727-113773322
238F10130.795501022494893001467113777170-113777239, 113798227, 113798236, 113798241-113798278, 113798313, 113798376-113798391, 113801700, 113801703, 113803230-113803252, 113803255, 113803301-113803312, 113803339-113803341, 113803368, 113803376, 113803402-113803436, 113803461-113803464, 113803499, 113803533-113803583, 113803595, 113803599, 113803663-113803666, 113803682-113803690, 113803693-113803695, 113803700-113803709, 113803728, 113803806, 113803822-113803830
239GRK1130.3788416075650110511692114321702-114321901, 114321920-114321945, 114321949, 114321958-114322267, 114322289, 114322296-114322303, 114322315-114322391, 114324004-114324019, 114324044-114324047, 114324050, 114324070-114324122, 114325814-114325825, 114325851-114325859, 114325892-114325971, 114426047-114426052, 114426058-114426109, 114426130, 114434192, 114434199, 114434202-114434206, 114434256-114434264, 114434269-114434273, 114434313-114434316, 114435876-114435961, 114435987-114435989, 114435992-114435993, 114436008, 114436011, 114436026-114436058, 114438136-114438141, 114438203-114438209, 114438237-114438265, 114438335
240RPGRIP1140.96891996891997120386121792865-21792867, 21793022-21793023, 21793088, 21793092, 21793201-21793228, 21794273-21794279, 21795835-21795838, 21795858-21795890, 21795915-21795948, 21796633, 21798453-21798458
241SLC7A7140.9889322916666717153623282118, 23282123-23282135, 23282176-23282178
242PABPN1140.915309446254077892123790679-23790714, 23790730, 23790753-23790757, 23790896-23790924, 23790951-23790955, 23791024-23791025
243MYH6140.95876288659794240582023853754, 23855149, 23855553-23855554, 23855557, 23855564, 23855569, 23855692-23855693, 23855697, 23856862, 23857384, 23858114-23858163, 23858198-23858213, 23858230-23858232, 23858236, 23858262-23858264, 23858645-23858675, 23859328-23859338, 23859428, 23863343-23863371, 23863449, 23863525, 23866285, 23868113, 23868179, 23868202, 23868205, 23869588-23869589, 23869928-23869929, 23869993, 23870023-23870024, 23870146, 23871793, 23871807-23871811, 23871909-23871938, 23871978-23872009
244MYH7140.94662534435262310580823882997, 23883044, 23883289-23883290, 23884370, 23884838-23884857, 23885241-23885267, 23885316-23885328, 23885391-23885397, 23885474-23885480, 23886754, 23886758-23886759, 23886807-23886810, 23886885-23886888, 23886892-23886895, 23887456-23887501, 23887508-23887551, 23887564-23887565, 23887594, 23887611, 23888423, 23888426, 23888436, 23894009, 23894048-23894078, 23894134-23894174, 23894226-23894231, 23894506-23894513, 23894528, 23894572-23894577, 23895989-23896013
245NRL140.952380952380953471424550542-24550548, 24550589, 24550596-24550617, 24551807, 24551824, 24551838-24551839
246PCK2140.997919916796674192324572449-24572452
247TGM1140.92461287693562185245424718616, 24718747, 24723402-24723409, 24723461-24723478, 24723909-24723941, 24723959-24723965, 24724203-24724206, 24724293-24724300, 24724420-24724422, 24724425-24724427, 24724651, 24727504, 24727515-24727541, 24727778, 24727785-24727806, 24728292-24728294, 24728302, 24728366-24728369, 24728430, 24728435-24728439, 24728453-24728455, 24728910-24728912, 24729156, 24729263-24729264, 24729733, 24729847-24729854, 24731356, 24731362-24731364, 24731459-24731469
248FOXG1140.76054421768707352147029236524-29236533, 29236620-29236877, 29236883-29236966
249NKX2-1140.9883913764510814120636986631, 36986750, 36986894-36986900, 36988377-36988381
250MGAT2140.993303571428579134450088118, 50088121-50088123, 50088130, 50088291-50088294
251C14orf104140.84685759745426385251450100502-50100503, 50100555, 50100587, 50100595, 50100601, 50100633, 50100654, 50100661, 50100683-50100706, 50100715-50100761, 50100769-50100805, 50100814-50100829, 50100894, 50100936-50100958, 50100981-50101012, 50101061, 50101082-50101115, 50101154-50101156, 50101160-50101161, 50101170, 50101218-50101239, 50101248-50101287, 50101346-50101352, 50101355, 50101361, 50101370, 50101422-50101426, 50101429, 50101450-50101461, 50101464-50101471, 50101512-50101519, 50101531-50101532, 50101553-50101565, 50101581-50101599, 50101631-50101634, 50101796-50101798, 50101801-50101806, 50101809, 50101815
252ATL1140.998796630565582166251058273-51058274
253GCH1140.99734395750332275355369261, 55369367
254OTX2140.984340044742731489457268965-57268978
255SYNE2140.9999517467670312072464522674
256ZFYVE26140.9913385826771766762068238796-68238819, 68238911, 68241742, 68241745-68241758, 68242674-68242694, 68249710-68249711, 68251821, 68251825, 68251832
257VSX2140.86648250460405145108674706317, 74706385-74706420, 74706445-74706446, 74706462-74706465, 74706469, 74706473-74706480, 74706486, 74711922-74711929, 74726319-74726321, 74727314-74727337, 74727398, 74727489-74727523, 74727544-74727564
258FLVCR2140.994307400379519158176045362, 76045368-76045371, 76045519, 76045532-76045533, 76045752
259TGFB3140.9814366424535923123976446979-76447001
260ESRRB140.9731499672560641152776957790, 76957872-76957876, 76957968-76957983, 76964690-76964693, 76964698, 76964701, 76964757-76964768, 76966324
261POMT2140.91122947181536200225377786777-77786822, 77786842-77786985, 77786999-77787005, 77787016-77787017, 77787022
262SPATA7140.997222222222225180088883184-88883188
263ATXN3140.995395948434625108692537354-92537358
264AMN140.01101321585903113471362103389026-103389068, 103390048-103390166, 103390272-103390276, 103390286-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396051, 103396058-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
265INF2140.3842666666666723093750105167703-105167710, 105167717-105167749, 105167774-105167813, 105167817, 105167823, 105167831-105167912, 105167931-105167947, 105167950-105167958, 105167971-105168070, 105169442-105169474, 105169483-105169489, 105169547-105169557, 105169632-105169673, 105169683-105169700, 105169732-105169791, 105170263-105170281, 105172378-105172458, 105172464-105172513, 105173274-105173281, 105173333-105173377, 105173628-105173643, 105173683-105173736, 105173754-105173793, 105173831-105174339, 105174781-105174849, 105174873-105174876, 105174894-105174924, 105175008-105175037, 105175052-105175069, 105175618-105175627, 105175658-105175659, 105175670-105175677, 105175957-105175971, 105175991-105176042, 105176425-105176481, 105176493-105176525, 105177274-105177275, 105177289-105177296, 105177313-105177344, 105177416-105177444, 105177484-105177523, 105177966-105177990, 105178019-105178026, 105178770-105178779, 105178790-105178791, 105178818-105178832, 105178845, 105178859-105178884, 105179165-105179183, 105179190-105179197, 105179215-105179277, 105179280, 105179283, 105179306-105179329, 105179580-105179584, 105179587-105179593, 105179599-105179639, 105179782-105179861, 105180540-105180547, 105180565, 105180613, 105180661-105180662, 105180723-105180757, 105180764-105180779, 105180806-105180826, 105180836-105180844, 105180871-105180913, 105180921, 105180926-105180948, 105180953, 105180991-105181008, 105181035-105181045, 105181052, 105181083-105181105, 105181131, 105181172, 105181621-105181653
266NIPA1150.8171717171717218199023049158, 23062318-23062319, 23086234-23086411
267TRPM1150.94451371571072267481231319174, 31327808-31327824, 31327847-31327863, 31329985-31329998, 31330044-31330045, 31330297, 31330303, 31332356-31332417, 31332425-31332472, 31332529, 31334166-31334219, 31334265, 31334281, 31334403-31334426, 31334440-31334446, 31338432, 31339404-31339418
268IVD150.9437939110070372128140698020-40698025, 40698051-40698052, 40698059, 40698097-40698104, 40702867-40702887, 40703525, 40703813-40703830, 40703836-40703841, 40710382-40710390
269CHST14150.9513704686118555113140763418, 40763424, 40763435, 40763438, 40763441, 40763444, 40763448-40763453, 40763464-40763485, 40763518-40763522, 40763527-40763529, 40763532-40763543, 40763807
270CAPN3150.999591503267971244842691701
271STRC150.995495495495524532843900150-43900156, 43907745-43907751, 43910437-43910443, 43910867-43910869
272STRC150.996410256410267195044007207-44007213
273SPG11150.9975450081833118733244912445, 44912593, 44914052-44914064, 44914525, 44944427, 44955801
274GATM150.9803459119496925127245658612, 45658615, 45660355-45660362, 45668803, 45670610-45670623
275SLC12A1150.999090909090913330048527143, 48591358, 48591409
276FBN1150.998026926648117861648791187-48791203
277TPM1150.885380116959069885563335040-63335066, 63335069-63335073, 63335093-63335129, 63335905-63335921, 63335970-63335976, 63335991, 63335997, 63336001-63336003
278SPG21150.963322545846823492765257666-65257695, 65262460, 65262472, 65262514, 65266961
279CLN6150.99038461538462993668500481-68500485, 68521849, 68521856, 68521862, 68521887
280NR2E3150.997282608695653110472103128, 72103843, 72103860
281HEXA150.996855345911955159072668277-72668281
282HCN4150.85825027685493512361273614886-73614892, 73615114-73615115, 73615202-73615214, 73615390-73615426, 73615469-73615516, 73616151, 73616155-73616159, 73616206-73616211, 73659865-73659876, 73659996-73659997, 73660031-73660075, 73660091-73660136, 73660152-73660153, 73660164-73660218, 73660231, 73660234, 73660242-73660243, 73660260, 73660273-73660286, 73660291-73660309, 73660313-73660317, 73660321-73660323, 73660328-73660330, 73660341-73660369, 73660386-73660410, 73660413, 73660421-73660423, 73660427, 73660429-73660464, 73660475, 73660489-73660523, 73660550-73660600
283ETFA150.993013972055897100276523712-76523718
284PSTPIP1150.032773780975221210125177310489-77310579, 77310585-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
285RPS17150.960784313725491640882823387-82823393, 82824440, 82824453, 82824477, 82824535-82824540
286RPS17150.955882352941181840883207089, 83207730-83207736, 83208762, 83208783, 83208786, 83208796, 83208820, 83208879-83208883
287FANCI150.9869576122397852398789816664-89816683, 89824432-89824435, 89828333, 89835919-89835921, 89836045, 89836051-89836071, 89836216, 89843174
288POLG150.99919354838713372089876828-89876830
289MESP2150.56030150753769525119490319589-90319614, 90319638-90319640, 90319648-90319678, 90319687, 90319702-90319707, 90319728, 90319731, 90319734-90319738, 90319762-90319815, 90319826, 90319831, 90319843-90319898, 90319907-90319931, 90319955-90319987, 90319999-90320031, 90320034-90320037, 90320040-90320069, 90320076-90320109, 90320116-90320152, 90320161, 90320206-90320207, 90320220, 90320235-90320238, 90320241, 90320246-90320263, 90320273-90320276, 90320294-90320295, 90320300, 90320307, 90320310, 90320316, 90320332, 90320362-90320432, 90320445-90320452, 90320476-90320487, 90321313, 90321362, 90321472-90321474, 90321479-90321487
290VPS33B150.997303128371095185491542254, 91545357, 91549617, 91565392-91565393
291IGF1R150.9797758284600483410499192822-99192904
292HBZ160.18881118881119348429202918, 202967-202990, 203891-203944, 203951-203986, 203992-204095, 204271-204399
293HBM160.7957746478873287426216055, 216067, 216310-216358, 216386-216407, 216422-216435
294HBA2160.058275058275058404429222912-223006, 223124-223328, 223472-223544, 223562-223568, 223576-223599
295GNPTG160.800653594771241839181401967-1401995, 1402006-1402018, 1402103-1402145, 1402240-1402281, 1402298-1402307, 1412040, 1412048, 1412253-1412289, 1412502-1412507, 1412612
296CLCN7160.6100082712985994324181496632-1496652, 1496657, 1496678-1496706, 1497008-1497039, 1497042, 1497048-1497058, 1497071-1497087, 1497393-1497519, 1497534-1497535, 1497542-1497547, 1497551, 1497568-1497569, 1497671-1497686, 1497701-1497715, 1498358-1498362, 1498365, 1498374, 1498384, 1498397-1498479, 1498682, 1498707-1498712, 1498727-1498728, 1498735, 1498738-1498755, 1498761-1498767, 1498967-1499024, 1499085, 1499090-1499094, 1499277-1499296, 1500498-1500537, 1500556-1500580, 1500597, 1500609-1500647, 1500665-1500667, 1501660, 1501686-1501717, 1502756-1502777, 1502788-1502793, 1502799-1502802, 1502816, 1502843-1502894, 1503852-1503864, 1504462-1504464, 1505153, 1505161, 1505209, 1505758, 1505761, 1505775, 1506121-1506137, 1506148-1506207, 1509117, 1509121, 1509176-1509188, 1510451, 1524836-1524870, 1524889-1524964
297IGFALS160.02639751552795188119321840601-1841904, 1841913-1842007, 1842013-1842093, 1842105-1842159, 1842173-1842187, 1842202-1842516, 1843638-1843653
298GFER160.0113268608414246116182034220-2034477, 2034748-2034944, 2035867-2035876, 2035884-2036029
299TSC2160.28761061946903386454242098661-2098666, 2098670-2098679, 2098726, 2100401-2100404, 2100407, 2103343-2103348, 2103361-2103367, 2103393, 2103409, 2103422-2103425, 2103447, 2103452-2103453, 2104350-2104353, 2104411, 2104415, 2105494, 2106678-2106679, 2106752-2106753, 2108748-2108781, 2108791-2108818, 2108859, 2108863-2108868, 2108872, 2110767-2110814, 2111924-2111928, 2111937-2111938, 2112516-2112561, 2112582-2112601, 2112973-2113032, 2114280-2114343, 2114351-2114399, 2114410-2114428, 2115535-2115541, 2115579-2115580, 2115599-2115621, 2115626, 2120457-2120511, 2120521-2120553, 2120562-2120579, 2121511-2121563, 2121579-2121601, 2121610, 2121616, 2121785-2121817, 2121825-2121828, 2121833, 2121838-2121877, 2121888, 2121902-2121935, 2122242-2122254, 2122265, 2122311-2122364, 2122877-2122894, 2122923-2122924, 2122940, 2122957-2122984, 2124204-2124379, 2125800-2125815, 2125829-2125882, 2125889-2125893, 2126069-2126071, 2126089-2126170, 2126492-2126586, 2127599-2127677, 2127685, 2127688-2127727, 2129033-2129197, 2129277-2129287, 2129305-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131719, 2131728-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134373, 2134379-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
300PKD116012912129122139728-2140195, 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
301ABCA3160.72179863147605142351152326675-2326683, 2326686-2326697, 2326735, 2326738, 2327639-2327645, 2327880-2327899, 2327932-2327936, 2327939-2327948, 2327958, 2327961, 2328002-2328003, 2328006-2328017, 2328030-2328070, 2328289-2328294, 2328315-2328336, 2328362-2328387, 2328394, 2328432-2328459, 2328944-2328952, 2328984, 2328992-2328994, 2329030-2329056, 2329087-2329096, 2331054-2331075, 2331088, 2331099-2331165, 2331176-2331192, 2331212-2331222, 2331382-2331510, 2333187-2333252, 2333263-2333272, 2333286-2333287, 2333297, 2333300-2333301, 2333304-2333306, 2333316, 2333334-2333359, 2334291-2334305, 2334320-2334438, 2334780-2334798, 2334917, 2334925, 2334957-2334999, 2335443-2335469, 2335486-2335490, 2335504, 2335508, 2335517, 2335526, 2335542-2335561, 2335576-2335577, 2335636-2335647, 2336711, 2336743-2336747, 2336751, 2336810-2336837, 2338028-2338034, 2338046-2338104, 2338131-2338132, 2338137-2338143, 2338168, 2338171-2338197, 2338254, 2338258-2338260, 2338308-2338312, 2338328, 2339491, 2339494-2339513, 2339520-2339553, 2339562, 2339565, 2339580, 2339595-2339603, 2342141-2342172, 2342195-2342239, 2345596, 2345599-2345602, 2345664-2345679, 2347357-2347383, 2347420-2347446, 2347502-2347537, 2347809, 2347853-2347910, 2348387-2348417, 2348525, 2349429-2349430, 2349472-2349481, 2350097-2350101, 2354113, 2369649-2369651, 2369656-2369661, 2369706, 2369717, 2373665, 2373668, 2376035-2376039, 2376051-2376055, 2376060-2376066
302MEFV160.7105711849957467923463293511-3293516, 3293690-3293694, 3294254-3294276, 3294497-3294506, 3296533-3296537, 3296542-3296543, 3297045-3297046, 3297050, 3297073, 3297175, 3297181, 3299499, 3304158-3304162, 3304206-3304242, 3304314, 3304352-3304392, 3304398-3304466, 3304475-3304478, 3304484-3304485, 3304507-3304514, 3304517-3304534, 3304556-3304582, 3304601-3304665, 3304669, 3304677-3304681, 3304689-3304714, 3304740-3304774, 3306311-3306587
303SLX4160.990190735694825455053639352-3639368, 3642808-3642818, 3647548-3647572, 3650987
304CREBBP160.9362805294037446773293777727-3777795, 3777884, 3777919, 3777922, 3778035-3778057, 3778117-3778131, 3778141-3778179, 3778203-3778215, 3778266-3778269, 3778286-3778320, 3778393-3778411, 3778440-3778442, 3778446-3778453, 3778566-3778582, 3778611-3778642, 3778648-3778682, 3778898-3778900, 3778911-3778913, 3778927-3778954, 3778958, 3778964, 3778970-3778991, 3779010-3779011, 3779086-3779087, 3779123-3779135, 3779143-3779153, 3779207-3779221, 3779347-3779377, 3779454-3779455, 3779466-3779472, 3779481-3779485, 3779493, 3819241-3819242, 3828731, 3830733-3830734
305GLIS2160157515754382282-4382453, 4383348-4383520, 4384802-4384978, 4385061-4385194, 4385276-4385394, 4386726-4387525
306ALG1160.6465949820788549313955121851-5121853, 5121866, 5121876-5121909, 5121995, 5122013, 5122023-5122028, 5122056-5122057, 5125528, 5127452, 5127915-5127955, 5127978-5128000, 5128770-5128785, 5128788-5128790, 5128793-5128808, 5128818, 5128829-5128866, 5128869-5128870, 5129065-5129103, 5129768-5129798, 5130958-5131004, 5131031-5131037, 5131043-5131049, 5131056-5131057, 5132560-5132563, 5132590-5132591, 5132647-5132674, 5133683-5133688, 5133710-5133749, 5133757-5133758, 5134751-5134777, 5134812-5134846, 5134857-5134882
307ABAT160.987358616101131915038866748-8866754, 8873356-8873360, 8873412-8873418
308MYH11160.97441077441077152594015811128-15811131, 15814832-15814835, 15815292-15815294, 15820708, 15835713-15835715, 15835718-15835720, 15839056-15839067, 15844002-15844010, 15844023, 15847269-15847294, 15847302-15847309, 15847318-15847342, 15847360-15847365, 15850218-15850220, 15850280-15850296, 15850299, 15851690-15851702, 15869971-15869975, 15892523-15892530
309ABCC6160.74490248226951151451216244045, 16255295-16255321, 16255356-16255358, 16255372, 16256867-16256874, 16256880-16256919, 16256992, 16257004-16257008, 16259480-16259749, 16259767-16259790, 16263503-16263710, 16267141-16267261, 16269768-16269805, 16269816-16269826, 16271313-16271382, 16271393-16271435, 16271448-16271469, 16272664-16272670, 16272703-16272704, 16272708-16272710, 16272729, 16272740-16272745, 16272770-16272788, 16272805-16272822, 16276405, 16276785-16276787, 16278816-16278829, 16278869, 16291910-16291956, 16291971, 16291977-16292018, 16295890-16295906, 16295954-16295960, 16297310, 16297410, 16297424, 16302586, 16313487-16313523, 16315623, 16317256-16317282
310UMOD160.9843993759750430192320344659-20344660, 20344688, 20352542-20352558, 20359860-20359862, 20360125-20360128, 20360131-20360133
311OTOA160.999707602339181342021747697
312SCNN1B160.998959958398342192323391916, 23392079
313COG7160.999135322092522231323400271, 23409393
314CLN3160.941533788914277131728497672-28497681, 28497708-28497719, 28498990, 28499913-28499949, 28500681-28500697
315TUFM160.9495614035087769136828857271-28857278, 28857330-28857342, 28857383, 28857410-28857418, 28857539-28857576
316ATP2A1160.90918163672655273300628890044, 28890827-28890834, 28890846, 28893772-28893814, 28893889-28893910, 28895896-28895907, 28895967-28895976, 28898510-28898535, 28898559-28898586, 28898759-28898760, 28898767-28898771, 28898793, 28898797, 28898828-28898830, 28898847, 28898871-28898915, 28898930-28898935, 28898938, 28900108-28900128, 28900175-28900196, 28900263-28900270, 28915501-28915506
317PHKG2160.87878787878788148122130760142-30760211, 30760217-30760236, 30764717-30764725, 30764785-30764797, 30764811, 30764823-30764825, 30767564, 30767697, 30767966, 30767972, 30768329, 30768334, 30768340, 30768360-30768384
318VKORC1160.93699186991873149231105950-31105980
319FUS160.91967109424415127158131191536-31191548, 31193877-31193892, 31195269-31195300, 31195531, 31195623-31195665, 31195677-31195694, 31195707, 31196438-31196439, 31196442
320SLC5A2160.91282813273898176201931494516-31494531, 31495994-31496000, 31498662-31498663, 31498889-31498902, 31498969, 31499034, 31499373-31499377, 31499438-31499440, 31499704-31499707, 31499726, 31499734-31499748, 31499793-31499799, 31499943-31499974, 31500023-31500052, 31500065, 31500201-31500202, 31500250, 31500272, 31500275, 31500454-31500476, 31500502-31500509, 31501747
321NOD2160.95997438360551125312350733440-50733442, 50733510, 50733772-50733773, 50745375-50745418, 50745521-50745527, 50745860-50745900, 50746159-50746185
322SALL1160.999245283018873397551175656-51175658
323RPGRIP1L160.9916413373860233394853656172, 53672246-53672268, 53672291-53672295, 53672317-53672320
324MMP2160.9808371154815938198355513428, 55513446, 55513454, 55513468-55513476, 55513521-55513537, 55525849-55525857
325SLC12A3160.9508567733592152309356899211, 56899223-56899228, 56901037-56901041, 56901044-56901045, 56901048, 56901083-56901106, 56911993-56911998, 56912011, 56912039-56912042, 56914145-56914163, 56920383-56920384, 56920883-56920905, 56920977, 56921005, 56921837-56921840, 56921849-56921858, 56921870, 56921886-56921891, 56921909-56921943
326CETP160.87584345479082184148257003362-57003382, 57004978-57004994, 57005292-57005293, 57005904-57005946, 57005967-57005971, 57005974-57005977, 57005984, 57007300, 57007316-57007352, 57012052-57012073, 57012143-57012145, 57012150-57012165, 57015090, 57015095-57015096, 57015102-57015109, 57016084
327GPR56160.9563953488372190206457684238-57684240, 57687209-57687211, 57687908-57687950, 57689347, 57689350, 57689365, 57689426-57689442, 57690469-57690471, 57691286-57691288, 57691291, 57691399, 57693443, 57695610, 57695643, 57695689-57695692, 57695697-57695701, 57695706
328CNGB1160.9954739084132117375657918186, 57918201-57918205, 57992377-57992380, 57993805-57993811
329TK2160.847402597402614192466545875, 66582898-66582912, 66583856-66583858, 66583867-66583871, 66583890-66583897, 66583932, 66583936, 66583947-66583991, 66584006-66584034, 66584058-66584090
330HSD11B2160.8111658456486230121867465152-67465339, 67465354-67465385, 67465392-67465401
331LCAT160.89342403628118141132367973812, 67973816, 67973843-67973846, 67973937-67973940, 67973979-67974025, 67974175-67974180, 67976399-67976401, 67976404, 67976490, 67976589, 67976826, 67976959-67976985, 67977045, 67977873-67977879, 67977956-67977991
332CDH3160.9899598393574325249068679312, 68679583-68679589, 68713729-68713730, 68718661-68718662, 68718706, 68721612, 68725743-68725753
333CDH1160.9856549641374138264968771319-68771356
334COG8160.84502446982055285183969364742-69364757, 69364760-69364768, 69364777-69364833, 69364839-69364879, 69364896, 69364900-69364901, 69364904, 69364972, 69364977, 69364984-69364987, 69364994, 69373084, 69373091, 69373130-69373176, 69373205-69373292, 69373322, 69373413-69373425
335AARS160.88682490540076329290770287229, 70287932, 70288595-70288597, 70291952-70291995, 70292035-70292038, 70292048-70292058, 70293085, 70294947-70294967, 70295032, 70295047-70295050, 70296260-70296262, 70296287-70296316, 70296335-70296365, 70296398-70296409, 70298887, 70298927, 70299551-70299565, 70301573-70301575, 70301578-70301579, 70301603-70301625, 70302200-70302206, 70302222-70302263, 70303522-70303554, 70303665-70303666, 70304114-70304116, 70304146, 70304151-70304159, 70304166, 70305825, 70316534-70316551
336HP160.9721539721539734122172091291-72091314, 72092153-72092159, 72092192, 72094011-72094012
337GCSH160.8065134099616910152281124275, 81129736-81129765, 81129814-81129883
338GAN160.9771460423634341179481348719-81348721, 81348761-81348798
339MLYCD160.85290148448043218148283932768, 83932800-83932821, 83932831-83932859, 83932892-83932917, 83932927, 83932932, 83932935-83932956, 83932963-83933007, 83933018, 83933034-83933041, 83933072-83933123, 83933233-83933239, 83933268-83933270
340LRRC50160.67033976124885718217884179057-84179169, 84182612-84182747, 84183891-84183947, 84188192-84188199, 84188212, 84188228, 84188281-84188320, 84188373-84188378, 84189226-84189256, 84189354, 84193337-84193356, 84199437-84199456, 84199523, 84203474-84203485, 84203526-84203556, 84203648-84203655, 84203794-84203822, 84203919-84203920, 84205965, 84208282, 84209539-84209551, 84209566-84209606, 84209634, 84209645-84209674, 84209777-84209793, 84209816, 84209819-84209827, 84209864-84209881, 84211335-84211398, 84211420, 84211444-84211447
341FOXF1160.57631578947368483114086544176-86544177, 86544184, 86544188, 86544203-86544238, 86544280-86544318, 86544364-86544390, 86544425-86544450, 86544508-86544517, 86544583-86544606, 86544610, 86544630-86544633, 86544638, 86544654, 86544658-86544661, 86544672-86544674, 86544704-86544705, 86544711-86544754, 86544783-86544831, 86544844, 86544850-86544852, 86544859-86544874, 86544881, 86544900-86544986, 86544992-86545015, 86545028-86545029, 86545091-86545115, 86546585-86546632, 86546672
342FOXC2160.67463479415671490150686600994-86601025, 86601334-86601356, 86601369-86601379, 86601383, 86601418-86601426, 86601432-86601469, 86601513-86601516, 86601564-86601571, 86601599-86601618, 86601661-86601692, 86601708-86601738, 86601782-86601790, 86601792-86601801, 86601817-86601868, 86601882-86601914, 86601944-86601976, 86601989, 86602015-86602039, 86602075-86602097, 86602106, 86602168-86602176, 86602179-86602193, 86602228, 86602239-86602254, 86602293-86602296, 86602325-86602328, 86602364-86602372, 86602412-86602447
343JPH3160.35558522474411448224787636842-87636883, 87636888, 87636918-87636961, 87637099-87637106, 87637130-87637134, 87677892-87677933, 87677952-87677992, 87678013, 87678022-87678067, 87678078, 87678088-87678091, 87678095-87678104, 87678117-87678245, 87678249, 87678253, 87678292, 87678309-87678356, 87678360-87678416, 87678440-87678444, 87678451-87678499, 87678581-87678613, 87678619-87678641, 87717761, 87717775, 87717790-87717872, 87723252-87723254, 87723258, 87723278-87723510, 87723516-87723788, 87723809-87723838, 87723857-87723865, 87723873, 87723876, 87723884-87723936, 87723939-87724034, 87724054-87724080, 87724092-87724132, 87730246-87730248
344CYBA160.1496598639455850058888709761-88709979, 88712524-88712539, 88712554-88712604, 88713163-88713171, 88713182-88713246, 88713509-88713571, 88714459-88714466, 88714482, 88714493-88714498, 88714501, 88714520-88714522, 88717364-88717421
345APRT160.2007366482504643454388876106-88876248, 88876478-88876556, 88876836, 88876854-88876871, 88876910-88876911, 88876915-88876932, 88876954-88876957, 88877958-88877980, 88877990-88877994, 88878000-88878054, 88878059-88878064, 88878228-88878307
346GALNS160.75525812619503384156988880847-88880868, 88880886-88880917, 88884418-88884519, 88884527-88884532, 88888997-88889001, 88889011-88889017, 88889031-88889048, 88889090-88889108, 88891187-88891215, 88891245, 88891248, 88891257-88891272, 88893198-88893199, 88902609-88902610, 88908379, 88909200, 88923166-88923285
347SPG7160.90829145728643219238889574826-89574900, 89574911, 89574915-89574928, 89574937-89574965, 89574975-89574978, 89574983-89574984, 89574989-89574997, 89576943, 89576952-89576956, 89579371, 89579409-89579419, 89598359-89598363, 89598374, 89598394-89598401, 89613085, 89619496, 89620250, 89620292, 89620312-89620314, 89620940, 89623295-89623297, 89623460-89623501
348FANCA160.97092490842491127436889805349, 89805579-89805591, 89837014-89837032, 89842164-89842177, 89877337-89877339, 89882285-89882289, 89882311, 89882320-89882323, 89882352, 89882945-89882953, 89882960-89882995, 89883003-89883023
349TUBB3160.77827050997783300135389989810-89989813, 89989823, 89989858-89989866, 89998979-89998982, 89998993-89999009, 89999036, 89999950-89999957, 90001171, 90001342-90001347, 90001430-90001435, 90001438-90001449, 90001479-90001487, 90001547-90001584, 90001668-90001721, 90001731-90001735, 90001744-90001765, 90001777-90001802, 90001832-90001847, 90001854-90001871, 90001885-90001887, 90001914, 90001950-90001975, 90002126, 90002131-90002135, 90002185-90002190, 90002193
350PRPF8170.9781678082191815370081557211-1557228, 1576785-1576794, 1577759, 1578545-1578551, 1578939, 1578950, 1578958-1578961, 1579059-1579065, 1579920, 1580929, 1581927, 1584324, 1585130, 1586861, 1587766-1587863
351CTNS170.5428096425602755012033543501, 3550738-3550780, 3552146-3552150, 3552167-3552177, 3552211, 3552220, 3558356-3558379, 3558529-3558577, 3558618-3558624, 3559783-3559880, 3559970-3560015, 3560032-3560089, 3561299-3561333, 3561362-3561365, 3561373-3561381, 3561390, 3561419-3561450, 3563155-3563165, 3563263-3563269, 3563530-3563548, 3563583-3563635, 3563911-3563926, 3563949-3563956, 3564000-3564008, 3564021-3564022
352CHRNE170.9284750337381910614824802333-4802337, 4802381-4802402, 4802629-4802634, 4802666-4802670, 4802768-4802780, 4804106-4804119, 4804285-4804303, 4804425-4804434, 4804470-4804481
353GP1BA170.972395833333335319204837155-4837161, 4837229, 4837236, 4837432-4837433, 4837485-4837488, 4837545-4837552, 4837736-4837765
354ENO3170.960919540229895113054858702-4858713, 4859320, 4859385-4859421, 4860324
355AIPL1170.800865800865823011556328784, 6328816-6328817, 6328885, 6328890, 6328945, 6329003-6329004, 6329055-6329060, 6329935-6329963, 6329988-6329997, 6330019-6330076, 6330201-6330202, 6330223-6330231, 6330238-6330240, 6330259-6330260, 6330298, 6330353-6330354, 6331638-6331725, 6331738, 6331751-6331760, 6338424
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358CHRNB1170.956839309428956515067348450-7348475, 7348496-7348504, 7348589-7348590, 7348605-7348620, 7348625, 7348654, 7348658, 7348701-7348709
359GUCY2D170.9993961352657233127906519, 7906911
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361ALOXE3170.99719101123596621368006667, 8013735-8013736, 8013747-8013748, 8013767
362HES7170.88938053097345756788024894, 8024899-8024904, 8024907, 8024951-8025006, 8025021, 8025024-8025027, 8025084, 8025147, 8025177, 8025180-8025182
363MYH8170.998624011007918581410302190-10302197
364MYH3170.999484801648633582310543119, 10555791, 10558254
365SCO1170.964679911699783290610600552-10600573, 10600798-10600807
366ELAC2170.95122934300685121248112898103, 12899261-12899294, 12899864-12899867, 12899963, 12903473-12903490, 12905676, 12905858-12905865, 12905878, 12905883-12905884, 12906807-12906814, 12906818, 12906821-12906823, 12909115, 12909130-12909134, 12915084, 12915093-12915098, 12917813, 12921023, 12921105, 12921166-12921168, 12921180, 12921229, 12921233-12921234, 12921237-12921241, 12921249-12921259
367COX10170.9594594594594654133213972952-13972965, 14110305, 14110422-14110434, 14110450-14110452, 14110457, 14110460, 14110464-14110484
368TNFRSF13B170.91723356009077388216842923-16842926, 16843717-16843723, 16852083-16852096, 16852142-16852183, 16852294-16852297, 16855894-16855895
369FLCN170.9885057471264420174017117140-17117146, 17127346, 17129569-17129575, 17131262-17131264, 17131436-17131437
370RAI1170.9736060129348151572117697094-17697105, 17697110, 17697228, 17697231, 17697607-17697622, 17697790, 17698638-17698661, 17698717-17698726, 17698809-17698812, 17698824, 17698857-17698876, 17699050-17699061, 17699288, 17699381-17699384, 17699434-17699435, 17699509, 17701554-17701556, 17712704-17712716, 17712742-17712753, 17713284-17713295
371ATPAF2170.99885057471264187017931946
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373UNC119170.8409405255878311572326875056-26875058, 26875614-26875626, 26879356-26879383, 26879394-26879435, 26879546-26879574
374NEK8170.9692159692159764207927055873, 27055878, 27064485, 27064730, 27065129-27065131, 27065157-27065160, 27065704-27065706, 27066114, 27067486-27067487, 27067531, 27067555, 27067560, 27067573-27067587, 27067869-27067879, 27067885, 27067906-27067907, 27067912, 27067930, 27067958-27067969, 27068122
375SLC6A4170.995773903856318189328543219, 28543225-28543231
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377PEX12170.9851851851851916108033903083, 33903196-33903200, 33904301-33904305, 33904952-33904955, 33905005
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451DNM2190.9621125143513299261310870417-10870426, 10912974, 10922948-10922985, 10923010-10923037, 10930661-10930673, 10934489, 10941025, 10941689-10941695
452LDLR190.579945799457991085258311200243-11200245, 11200273-11200291, 11210940-11210946, 11210978, 11210985, 11213340-11213351, 11213434, 11215914-11215965, 11215981-11216021, 11216044-11216087, 11216147-11216203, 11216220, 11216235-11216274, 11217241-11217288, 11217327-11217334, 11217340-11217347, 11218075-11218118, 11218153, 11221328-11221379, 11221385-11221389, 11221392-11221394, 11221398, 11221404, 11221408, 11221419-11221447, 11222206-11222250, 11222267-11222315, 11223954-11223994, 11224075-11224098, 11224101-11224115, 11224121-11224125, 11224211-11224220, 11224224, 11224229-11224282, 11224293-11224294, 11224302-11224317, 11224334-11224340, 11224366-11224367, 11224371, 11224424-11224438, 11226770-11226794, 11226808, 11226841-11226888, 11227535-11227544, 11227568-11227585, 11227600-11227674, 11230790, 11231080, 11231129, 11231139-11231175, 11233850, 11233859, 11233933, 11233967-11234008, 11238687, 11238709-11238725, 11240213-11240244, 11241957-11241962
453LDLR190.894736842105263028511241957-11241962, 11242041-11242061, 11242134-11242136
454PRKCSH190.994328922495279158711558341-11558349
455MAN2B1190.95750988142292129303612758355-12758358, 12759028-12759030, 12759109-12759115, 12766651, 12766685-12766692, 12767766-12767768, 12767838, 12767841-12767864, 12768275-12768302, 12768305, 12768309-12768325, 12768349-12768355, 12768921, 12769071, 12769085-12769088, 12769295-12769312, 12777466
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457CACNA1A190.823560696715861327752113318127-13318139, 13318169-13318629, 13318636-13318766, 13318774, 13318790-13318819, 13318833-13318867, 13319570-13319610, 13319622-13319628, 13319638-13319640, 13319644, 13319690-13319699, 13320149-13320155, 13320187-13320189, 13320192, 13320210, 13320219-13320228, 13325091-13325112, 13325123, 13325138-13325147, 13325325-13325342, 13325398-13325404, 13335481-13335496, 13335525, 13335554-13335565, 13335568-13335576, 13338303-13338319, 13387901-13387907, 13395896-13395899, 13395979-13395993, 13396020, 13397317-13397348, 13397394-13397425, 13397580-13397582, 13397667-13397679, 13409401-13409404, 13409462-13409467, 13409472, 13409475-13409498, 13409510-13409552, 13409565-13409610, 13409634-13409671, 13409780-13409822, 13409828-13409862, 13409875-13409897, 13409958-13409962, 13410029-13410035, 13414387-13414409, 13616792-13616816, 13616902-13616920, 13616954, 13616958, 13616997-13617004
458NOTCH3190.54033878840083202696615271587-15271588, 15271600, 15271604, 15271644-15271647, 15276297-15276310, 15276620-15276629, 15276702-15276714, 15276803, 15278072-15278074, 15278146-15278149, 15278153-15278154, 15278159-15278178, 15280897-15280936, 15281177-15281225, 15281236-15281266, 15281280-15281324, 15281334-15281353, 15281482-15281492, 15281543-15281548, 15281551-15281579, 15281597-15281634, 15284879-15284910, 15284922-15284934, 15284937-15284938, 15284960-15285036, 15285046-15285211, 15288336-15288405, 15288415-15288417, 15288420, 15288497-15288524, 15288526, 15288536-15288595, 15288601-15288754, 15288781, 15288795-15288854, 15288857-15288862, 15288874-15288896, 15289649-15289658, 15289678-15289714, 15289746-15289752, 15289854-15289856, 15289883-15289906, 15289911-15289913, 15289917-15289920, 15289935-15289949, 15289964, 15289983, 15290028, 15290070-15290071, 15290079-15290087, 15290229-15290236, 15290246-15290297, 15290883-15290955, 15290962, 15290966, 15290989, 15291017, 15291027, 15291038, 15291052, 15291056-15291060, 15291492-15291516, 15291541-15291544, 15291561-15291579, 15291607-15291639, 15291772-15291803, 15291810-15291887, 15291912, 15291929-15291931, 15291937-15291941, 15291944, 15291968-15291973, 15292397-15292482, 15292490-15292533, 15292567-15292568, 15292584-15292585, 15292593-15292603, 15292608, 15292612, 15295106-15295173, 15295186, 15295196-15295200, 15295205-15295207, 15295225-15295241, 15295244-15295249, 15295731, 15295734-15295751, 15295778-15295796, 15295827-15295830, 15296104-15296135, 15296138-15296146, 15296182-15296184, 15296197, 15296202, 15296304-15296350, 15296455-15296466, 15297705, 15297919-15297926, 15297966-15297997, 15298100-15298103, 15298143, 15298698-15298732, 15298767-15298781, 15298803, 15299046-15299051, 15299071, 15299800-15299825, 15299838, 15299842-15299843, 15299849-15299862, 15299880-15299952, 15299958-15299968, 15299983-15299985, 15300111-15300166, 15300205-15300213, 15300227, 15302235-15302447, 15302458-15302468, 15302556-15302678, 15302771-15302783, 15302798-15303109, 15303188-15303326, 15308311-15308379, 15311599-15311716
459CYP4F22190.993734335839610159615651415, 15651450-15651454, 15651474, 15651526, 15654810, 15654816
460JAK3190.88414814814815391337517940917-17940935, 17940944-17940965, 17940989-17941027, 17941335-17941344, 17941379-17941394, 17941410-17941429, 17942099-17942106, 17942483-17942494, 17942584-17942599, 17945447-17945459, 17947948-17947950, 17949096-17949140, 17950381-17950405, 17953191-17953192, 17953206, 17953243, 17953246-17953262, 17953272-17953303, 17953317-17953318, 17953357-17953381, 17953416-17953419, 17953840-17953851, 17953904-17953929, 17954190, 17954193-17954194, 17954643-17954653, 17955192-17955198
461SLC5A5190.90734989648033179193217983129-17983165, 17983210-17983230, 17983281-17983288, 17983356-17983377, 17983454-17983485, 17984947-17984956, 17984968-17984969, 17984973, 17984982, 17984985-17984998, 17985004, 17985303-17985314, 17985323-17985325, 17986764-17986765, 17986910-17986915, 17994676-17994682
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464CEBPA190.44939647168059593107733792244, 33792276-33792282, 33792324-33792343, 33792395-33792403, 33792480, 33792533, 33792536-33792537, 33792568-33792656, 33792683-33792720, 33792728-33792729, 33792753-33792796, 33792849-33792877, 33792889-33792932, 33792942-33792994, 33793006, 33793017-33793029, 33793037, 33793045-33793075, 33793114-33793320
465SCN1B190.950433705080554080735521725-35521764
466MAG190.75704412546518457188135786568-35786601, 35786765-35786785, 35786881-35786884, 35790457-35790462, 35790473, 35790482-35790484, 35790497-35790498, 35790501-35790503, 35790513-35790571, 35790594, 35790609-35790654, 35790696-35790753, 35791050-35791088, 35791096-35791188, 35791201-35791216, 35793441-35793497, 35793501, 35793506, 35793572-35793581, 35793589, 35793597
467COX6B1190.96551724137931926136149503, 36149515-36149522
468PRODH2190.9801365611421532161136290960-36290987, 36291090, 36293948-36293949, 36297667
469TYROBP190.359882005899721733936395489-36395491, 36395500-36395505, 36395508, 36395511, 36398121-36398163, 36398357-36398393, 36398425-36398465, 36398479-36398482, 36398632-36398664, 36399070-36399117
470SDHAF1190.928160919540232534836486177-36486191, 36486232, 36486236, 36486257, 36486348-36486352, 36486413-36486414
471WDR62190.982502187226680457236546022-36546023, 36556860, 36558238-36558279, 36558810-36558812, 36562515-36562517, 36562590-36562605, 36573965, 36573969-36573971, 36574123, 36575645, 36595436, 36595747-36595748, 36595752-36595754, 36595872
472RYR1190.950651584309067461511738931399-38931400, 38931404, 38931409, 38931465-38931491, 38931495-38931498, 38951102, 38951170, 38951174, 38951178-38951180, 38954146-38954167, 38954406-38954412, 38959973, 38976656-38976663, 38976707-38976714, 38976749-38976765, 38980743-38980747, 38983221-38983223, 38985080-38985081, 38986907-38986945, 38987067-38987068, 38987104-38987149, 38987500-38987548, 38989773-38989811, 38990347-38990353, 38990389-38990392, 38990409-38990443, 38990642-38990645, 38991493-38991495, 38993164-38993186, 38995454-38995470, 38995644-38995646, 38996032-38996033, 38998427-38998438, 39002730-39002731, 39002738, 39002741-39002743, 39002755, 39002947-39002953, 39003055-39003060, 39003107-39003123, 39055724-39055750, 39055772-39055798, 39055810, 39055818-39055881, 39055904-39055912, 39055926, 39055944-39055945, 39055948-39055998, 39056010-39056031, 39056065, 39056151-39056177, 39056210-39056238, 39056276-39056295, 39056336, 39075676-39075698, 39075731, 39075734, 39077197, 39078059-39078060
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474DLL3190.71997845988153520185739989618-39989625, 39989832-39989841, 39989926-39989927, 39989966-39989975, 39989992, 39990002, 39993455-39993639, 39993655-39993692, 39994718-39994734, 39994771-39994830, 39994840, 39994849-39994860, 39994887, 39994890-39994918, 39995869-39995870, 39995904, 39995939-39995940, 39996052-39996084, 39997679-39997724, 39997733-39997734, 39997805-39997826, 39997836, 39997839, 39997859-39997863, 39997874-39997887, 39997895-39997896, 39997904-39997907, 39997915, 39997950, 39998028-39998032, 39998160, 39998522, 39998583
475PRX190.996808025535814438640909729-40909742
476TGFB1190.8772378516624144117341837064-41837071, 41837079, 41838165, 41850719-41850732, 41854238-41854251, 41854254-41854255, 41854262-41854263, 41854329, 41854332, 41858680-41858705, 41858713-41858759, 41858871, 41858881, 41858903, 41858926-41858949
477BCKDHA190.9349775784753487133841919972, 41925167, 41928215-41928238, 41928652, 41928903-41928907, 41928957-41928976, 41929011-41929014, 41929019, 41929031, 41929058, 41929073, 41930440, 41930446-41930459, 41930502-41930513
478RPS19190.99771689497717143842365266
479ATP1A3190.78194671016857802367842470749-42470755, 42470763-42470789, 42470799-42470811, 42470850-42470915, 42470952-42470974, 42471009-42471046, 42471050, 42471056, 42471063, 42471077-42471078, 42471083, 42471103-42471138, 42471185-42471191, 42471275-42471317, 42471326-42471388, 42471413-42471419, 42471434-42471473, 42473043-42473048, 42473591-42473602, 42473667-42473673, 42474618, 42479919-42479922, 42480573, 42480579, 42480585-42480601, 42480606, 42480612, 42480623-42480649, 42480708-42480718, 42482415, 42485665, 42485725-42485753, 42485787-42485788, 42485925-42485928, 42485936, 42485973, 42485983, 42486077-42486081, 42486103, 42486206-42486252, 42489074-42489169, 42489192, 42489255-42489289, 42489295-42489296, 42489305-42489314, 42489326, 42489329-42489338, 42489459-42489460, 42489471-42489493, 42489514-42489522, 42489557, 42489569-42489575, 42490016-42490029, 42490031-42490040, 42490144-42490150, 42490344-42490348, 42492127, 42492146, 42492232, 42492521, 42492526, 42498223-42498228
480ETHE1190.8326797385620912876544012102-44012142, 44012156-44012158, 44012169-44012212, 44012949-44012950, 44012992-44013000, 44015653-44015661, 44015694-44015710, 44030760, 44030803-44030804
481BCAM190.94594594594595102188745312382-45312455, 45324034-45324061
482APOE190.944444444444445395445411901-45411903, 45411936-45411942, 45412110, 45412204-45412245
483BLOC1S3190.99835796387521160945682937
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485SIX5190.320720720720721508222046268766-46268931, 46268940-46269012, 46269025-46269054, 46269088-46269220, 46269228-46269302, 46269308-46269354, 46269616-46269670, 46269687-46269713, 46269722-46269761, 46269765, 46269773-46269790, 46269799-46269836, 46269883-46269922, 46269932-46269964, 46269972-46270051, 46270068, 46270085, 46270105, 46270120-46270162, 46270165, 46270174, 46270186-46270219, 46270233, 46270259, 46270272, 46270284-46270287, 46270328-46270380, 46270386-46270389, 46270401-46270413, 46271300-46271338, 46271371, 46271379, 46271397, 46271402, 46271410-46271413, 46271418, 46271423-46271427, 46271444-46271446, 46271453-46271460, 46271474-46271504, 46271527, 46271537-46271615, 46271684-46271714, 46271727-46271729, 46271740-46271767, 46271780-46271811, 46271825-46271874, 46271894-46271981, 46271994, 46272005-46272089
486DMPK190.84656084656085290189046273836, 46273845, 46273868-46273895, 46274234-46274284, 46274290-46274318, 46275143-46275148, 46275999, 46280598, 46280610-46280622, 46280701-46280703, 46280830, 46281051, 46281087-46281112, 46281422-46281423, 46281431-46281433, 46281442, 46281800, 46281856-46281864, 46281868-46281870, 46281893-46281899, 46282596, 46282605-46282606, 46282722-46282726, 46282762-46282779, 46283044-46283052, 46283087, 46283110, 46283127, 46285515-46285554, 46285557, 46285574-46285596
487FKRP190.69489247311828454148847258773-47258787, 47258928, 47259012-47259014, 47259021, 47259040-47259042, 47259068-47259094, 47259106-47259107, 47259118, 47259127-47259160, 47259167-47259195, 47259206, 47259222, 47259227-47259242, 47259248-47259291, 47259380-47259404, 47259431-47259458, 47259466-47259520, 47259549, 47259554-47259556, 47259617-47259698, 47259721-47259752, 47259782, 47259880, 47260008, 47260025, 47260028, 47260082-47260084, 47260090-47260099, 47260152-47260183
488DBP190.5899795501022540197849134188-49134190, 49136777, 49136862-49136863, 49138837-49139192, 49139226, 49140183-49140219, 49140236
489BCAT2190.81509754028838218117949302932-49302937, 49302954-49302955, 49302983-49303000, 49303036-49303095, 49303248-49303252, 49303283-49303288, 49303298, 49303335-49303337, 49303357, 49303444-49303446, 49303465-49303527, 49303540-49303546, 49309843-49309875, 49314255-49314264
490GYS1190.9561878952122997221449494561, 49494616, 49494621-49494625, 49494643-49494650, 49494655, 49494661, 49494698-49494740, 49496252-49496267, 49496299-49496300, 49496312-49496330
491MED25190.73306595365419599224450321599-50321659, 50321665-50321695, 50321833-50321873, 50322429-50322432, 50331738, 50332287-50332289, 50332300, 50332334, 50332337, 50333047, 50333133-50333158, 50333171-50333173, 50333176, 50333429-50333432, 50333456, 50333775-50333806, 50333812, 50334064-50334081, 50334108-50334119, 50334125, 50334135, 50334139, 50334641-50334677, 50334694-50334702, 50335399, 50335402-50335409, 50335412-50335413, 50338280, 50338312-50338314, 50338398-50338400, 50338414-50338415, 50338427-50338434, 50338791-50338802, 50338829, 50338843-50338862, 50338984-50339011, 50339026-50339043, 50339055, 50339068-50339077, 50339116, 50339125, 50339134-50339182, 50339190-50339202, 50339484-50339512, 50339533-50339560, 50339579-50339598, 50339659-50339663, 50340104-50340121, 50340134-50340153, 50340182, 50340185-50340188
492MYH14190.96056291932581241611150720875, 50726570-50726575, 50728861-50728882, 50728896-50728899, 50728902, 50728914-50728916, 50762418, 50762429-50762436, 50764739-50764747, 50764773-50764777, 50764807-50764861, 50764881-50764892, 50766587-50766594, 50766651-50766675, 50770191-50770246, 50792833-50792841, 50795580-50795595
493KCNC3190.423482849604221311227450823503-50823545, 50823549, 50823555, 50823558-50823587, 50823595, 50823951-50823957, 50826237-50826437, 50826444-50826481, 50826516, 50826527-50826560, 50826622-50826655, 50826670-50826734, 50826766, 50826780-50826781, 50826790, 50826854-50826870, 50826880-50826938, 50826954-50826955, 50827000-50827008, 50827017-50827020, 50827042-50827043, 50827052, 50827082-50827083, 50827116, 50827172, 50827176, 50827188, 50827217-50827243, 50827273, 50831480-50831498, 50831507, 50831513-50831515, 50831525-50831531, 50831547-50831548, 50831561-50831595, 50831618-50831619, 50831635-50831636, 50831641, 50831646-50831729, 50831739, 50831751-50831795, 50831802-50832041, 50832059-50832339
494KLK4190.99607843137255376551412668-51412670
495ETFB190.9077809798270996104151850203-51850215, 51850248, 51856448, 51856456, 51857404-51857433, 51857496-51857499, 51857646-51857666, 51857669, 51857760-51857783
496NLRP12190.91305712492153277318654301657-54301663, 54304494-54304495, 54304527-54304529, 54304583-54304614, 54307317-54307322, 54312859-54312903, 54313078-54313086, 54313205, 54313274-54313280, 54313321-54313323, 54313442-54313449, 54313585, 54313593-54313602, 54313618-54313624, 54313654-54313716, 54313780-54313792, 54313796, 54313859-54313874, 54313878, 54314018-54314022, 54314025, 54314168-54314177, 54314234, 54314239, 54314452, 54314517-54314539
497PRKCG190.90496657115568199209454385810-54385811, 54385902-54385908, 54392993-54392994, 54393252-54393256, 54401737-54401761, 54401786, 54401793, 54401828, 54401845-54401848, 54401857-54401882, 54409615-54409663, 54409971-54409986, 54410034-54410040, 54410049-54410100, 54410147
498PRPF31190.57666666666667635150054621659-54621692, 54625239-54625241, 54625888-54625911, 54625938-54625963, 54627128-54627164, 54627253-54627279, 54627884, 54627912-54627920, 54627944-54627986, 54628007-54628009, 54629927-54629974, 54631448-54631456, 54631475, 54631497-54631560, 54631567-54631575, 54631680-54631685, 54631721-54631752, 54632432-54632483, 54632496, 54632509-54632560, 54632647-54632695, 54632711-54632737, 54632740-54632742, 54634738-54634812
499TSEN34190.930332261521976593354695216-54695221, 54695318-54695332, 54695371-54695380, 54695383-54695387, 54695664-54695681, 54696088-54696098
500NLRP7190.9964675658317311311455450975-55450984, 55450994
501TNNT1190.979721166032951678955644322, 55644325, 55645270-55645271, 55652277-55652280, 55652295, 55652302, 55652318, 55658049-55658053
502TNNI3190.6223316912972123060955665429, 55665474-55665475, 55665491-55665512, 55665515-55665518, 55665533-55665571, 55666109, 55666129, 55666135-55666153, 55666156, 55666179-55666180, 55667569-55667592, 55667609-55667625, 55667663-55667700, 55668428-55668460, 55668467-55668472, 55668482-55668501
503TPO20.7316202712348375228021480865-1480927, 1480975-1480984, 1481019-1481028, 1481048-1481050, 1481089-1481123, 1481147-1481158, 1481185-1481206, 1481213-1481219, 1481230-1481231, 1481243-1481250, 1481278-1481302, 1481322-1481347, 1481364-1481374, 1488368-1488394, 1488445-1488468, 1488498-1488546, 1488572-1488626, 1491602-1491618, 1491637-1491672, 1491689-1491703, 1491721-1491759, 1497579-1497613, 1497689-1497695, 1497747-1497756, 1499777, 1499886, 1499921-1499931, 1500478-1500480, 1500485-1500487, 1507798, 1507806, 1520655-1520754, 1544366-1544386, 1544389-1544393, 1544397-1544413, 1544417-1544420, 1544430-1544434, 1544465-1544495
504KLF1120.9720597790773243153910183844-10183885, 10186303
505LPIN120.9659558548447491267311922590, 11922619-11922625, 11923964, 11925016, 11925163-11925165, 11925172, 11925175-11925179, 11925198, 11928513-11928545, 11935585-11935605, 11944661, 11944663-11944678
506MYCN20.9784946236559130139516082442-16082453, 16082544-16082547, 16082619-16082632
507APOB20.99905054046158131369221266771-21266783
508POMC20.966417910447762780425384427-25384433, 25384460-25384479
509HADHB20.9873684210526318142526486309-26486312, 26505792, 26505898, 26507823-26507825, 26508379-26508387
510OTOF20.511011011011012931599426683583, 26683601-26683615, 26684610, 26684633, 26684645-26684647, 26684740-26684755, 26684785-26684787, 26684999-26685039, 26686836-26686881, 26686920-26686938, 26686958-26686966, 26686973, 26687750-26687756, 26687792, 26687821-26687835, 26687878-26687883, 26687889, 26688540-26688541, 26688546-26688547, 26688864, 26689671-26689679, 26689714, 26689981-26690027, 26690073, 26690251-26690269, 26690288, 26690316, 26690355-26690369, 26691291-26691293, 26693461-26693469, 26693482-26693483, 26693497, 26693524, 26693554-26693575, 26693989, 26694012-26694018, 26695387-26695517, 26696000-26696009, 26696015-26696029, 26696042-26696045, 26696055-26696056, 26696069, 26696078-26696162, 26696274-26696435, 26696859-26696978, 26697381-26697542, 26698227-26698361, 26698782-26698906, 26698996-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700617, 26702132-26702226, 26702236-26702252, 26702341-26702521, 26703071-26703179, 26703654-26703850, 26703866-26703877, 26705274-26705384, 26705406-26705460, 26706359-26706369, 26706372, 26706385-26706387, 26706397-26706410, 26706425-26706495, 26707342-26707347, 26707385-26707403, 26707420, 26707424-26707431, 26707444-26707445, 26707458-26707468, 26712135-26712152, 26712546-26712576, 26712586-26712608
511MPV1720.99435028248588353127535943, 27535950, 27535955
512C2orf7120.999741401603311386729295436
513ALK20.9691548426897150486329430084, 29432660-29432694, 29436873-29436901, 29436936-29436937, 29436940, 29443594, 29443607-29443636, 29443648, 29443654-29443658, 29443670, 29443686-29443701, 29445383-29445389, 29446208, 29446262-29446263, 29446268-29446269, 29446335, 29446340-29446350, 29446390, 29462583, 29473984, 29474062
514SPAST20.9832522960561931185132339796-32339804, 32341208-32341224, 32372291-32372295
515CYP1B120.7843137254902352163238301532-38301548, 38301568-38301571, 38301627-38301673, 38301763-38301789, 38301852, 38301911-38301949, 38301963, 38301979, 38301986, 38302006-38302012, 38302023-38302027, 38302037-38302062, 38302095, 38302130-38302211, 38302221, 38302231-38302233, 38302237-38302238, 38302260-38302267, 38302290-38302297, 38302326-38302332, 38302336-38302338, 38302341-38302355, 38302415, 38302430-38302431, 38302445-38302487
516SOS120.9892553723138443400239249805-39249812, 39250003, 39251189-39251192, 39251263, 39281926-39281934, 39285898, 39347518-39347533, 39347536-39347537, 39347553
517ABCG520.998977505112472195644059002-44059003
518ABCG820.9732937685459954202244099121-44099128, 44099202-44099231, 44099362-44099376, 44101087
519LRPPRC20.982078853046675418544222938-44222940, 44222951-44222952, 44222992-44223016, 44223032-44223076
520SIX320.99399399399399699945169541, 45170028-45170031, 45170034
521MCFD220.99773242630385144147134997
522EPCAM20.9989417989418194547596645
523MSH220.999643493761141280547630461
524MSH620.9495469017879206408348010373-48010379, 48010411-48010594, 48010618-48010632
525LHCGR20.9914285714285718210048982768-48982785
526NRXN120.998192090395488442551254901, 51254912, 51255054-51255055, 51255265-51255266, 51255338-51255339
527EFEMP120.988529014844817148256144830, 56144978, 56149501, 56149562-56149575
528PEX1320.87458745874587152121261258575, 61258601-61258628, 61258642-61258646, 61258651-61258657, 61258756-61258762, 61258817-61258848, 61258864-61258905, 61258936, 61258949, 61258989-61258997, 61259076-61259088, 61259135, 61259208-61259211, 61259230
529DYSF20.87657232704403785636071780214-71780215, 71780220, 71780225, 71780289, 71780945, 71780951, 71780959, 71780974, 71781007-71781010, 71783173, 71788940-71788942, 71789040-71789048, 71791254, 71795302, 71796950-71796971, 71797005-71797006, 71797018-71797064, 71797424-71797437, 71797454-71797462, 71797729-71797740, 71797761-71797857, 71797866-71797871, 71801328-71801368, 71801376-71801501, 71825747-71825758, 71825789, 71825794-71825809, 71825816-71825824, 71825827, 71825840-71825864, 71827853-71827862, 71827866-71827870, 71827901, 71827917-71827919, 71827922, 71827943-71827972, 71829906-71829917, 71838422-71838426, 71838460-71838476, 71838595-71838612, 71838630-71838650, 71838672-71838692, 71839780-71839824, 71839843-71839846, 71839860-71839893, 71839906-71839936, 71840464-71840489, 71840527-71840540, 71847693-71847711
530SPR20.924936386768455978673114625-73114627, 73114645-73114682, 73114692-73114693, 73114785-73114800
531ALMS120.99680102367242401250473613018-73613021, 73613208, 73613274-73613294, 73679331-73679336, 73827996-73828002, 73828342
532DCTN120.999739379723741383774598779
533MOGS20.9916467780429621251474689275-74689278, 74692348-74692364
534GGCX20.93895476504172139227785778956, 85780552-85780554, 85781313-85781318, 85781408, 85781425-85781428, 85782709-85782713, 85785683-85785704, 85786148-85786161, 85787990-85788038, 85788107-85788108, 85788509-85788540
535SFTPB20.999127399650961114685895295
536REEP120.966996699669972060686459818-86459821, 86564618-86564633
537EIF2AK320.997911071321997335188926730-88926735, 88926763
538TMEM12720.863319386331949871796930917, 96930926, 96930934-96930937, 96930965-96931022, 96931057-96931090
539ZAP7020.69032258064516576186098340541-98340556, 98340560-98340562, 98340589, 98340710-98340711, 98340745-98340748, 98340759-98340769, 98340835-98340836, 98340846, 98340871-98340885, 98349346-98349384, 98349411-98349417, 98349455-98349484, 98349588-98349675, 98349760-98349783, 98349806, 98350007-98350019, 98350032-98350058, 98350983-98350989, 98351003-98351024, 98351040-98351095, 98351106, 98351131-98351175, 98351713-98351742, 98351858, 98351908-98351919, 98353936-98353966, 98354035-98354063, 98354109-98354113, 98354279-98354295, 98354330-98354334, 98354555-98354556, 98354561-98354566, 98355885-98355900, 98355939-98355945
540RANBP220.960620155038763819675109336063-109336088, 109336119-109336134, 109345588-109345589, 109351988-109351996, 109352142, 109357110-109357124, 109367871, 109368037-109368080, 109368104-109368132, 109369454-109369478, 109371656-109371662, 109374949-109374955, 109378557-109378558, 109378582-109378629, 109382787-109382793, 109382878-109382903, 109383052-109383058, 109383635-109383682, 109384082-109384088, 109384393-109384439, 109384628-109384634
541NPHP120.9995083579154412034110881387
542MERTK20.982543000112656316-112656318, 112656323-112656373
543PAX820.94235033259424781353113993005-113993008, 113993058-113993070, 113993142-113993159, 113994196-113994221, 113999683, 113999686-113999701
544GLI220.808443604284819124761121708834-121708868, 121708934-121708948, 121708951-121708969, 121708986-121709019, 121712940-121712964, 121713002-121713006, 121726359, 121726447, 121728033, 121728063, 121728097-121728115, 121728172-121728182, 121729539-121729552, 121729601-121729633, 121732613, 121743904-121743916, 121745784-121745794, 121745825-121745845, 121745892-121745934, 121745989-121746018, 121746053-121746056, 121746069-121746107, 121746123-121746160, 121746172, 121746183-121746202, 121746230-121746255, 121746304-121746352, 121746377-121746408, 121746493-121746495, 121746499-121746504, 121746510-121746517, 121746526-121746538, 121746542-121746563, 121746574-121746600, 121746679-121746722, 121746786, 121746851-121746895, 121746932-121746938, 121747002-121747050, 121747069-121747091, 121747128, 121747166, 121747183, 121747340, 121747351-121747357, 121747372-121747375, 121747406, 121747429, 121747432, 121747456, 121747459-121747478, 121747492-121747517, 121747541, 121747544-121747545, 121747576-121747577, 121747657-121747669, 121747697-121747698, 121747711-121747729, 121747983, 121748029-121748044, 121748048
545BIN120.814253647586983311782127806110-127806133, 127808007-127808034, 127808059, 127808413-127808415, 127808420, 127808426, 127808444-127808486, 127808730-127808740, 127808754-127808756, 127808789, 127809855-127809856, 127809928-127809938, 127811015-127811017, 127811547-127811553, 127811561, 127815049-127815089, 127815096-127815166, 127816587-127816596, 127819733-127819736, 127819762-127819773, 127821186-127821187, 127821217, 127821509-127821510, 127821583-127821585, 127827614-127827657, 127834274
546PROC20.918470418470421131386128180663-128180738, 128180872-128180874, 128183777-128183803, 128184764-128184770
547CFC120.67708333333333217672131279058-131279080, 131279530, 131279614, 131279623, 131279627, 131279668, 131279681, 131279688, 131280363-131280396, 131280424-131280456, 131280742-131280752, 131280776-131280851, 131285306-131285336, 131285376, 131285412
548RAB3GAP120.9996605566870312946135888123
549LCT20.9998271092669415784136548367
550ZEB220.999725651577513645145156136
551NEB20.998898568138582219974152419197, 152432795, 152432815-152432816, 152432831, 152432844-152432845, 152466341-152466354, 152527572
552GALNT320.9989484752891721902166627124-166627125
553SCN1A20.9626479906622245997166854637, 166892670, 166896068-166896082, 166898824, 166900308-166900317, 166900461, 166901598-166901607, 166901662-166901672, 166901682, 166901701-166901748, 166901760-166901766, 166903392, 166903471-166903475, 166903479-166903482, 166904165, 166904241-166904245, 166904248-166904252, 166904260-166904266, 166905431, 166905459, 166908251, 166908272-166908319, 166908415, 166929883-166929885, 166929896-166929902, 166929932-166929954, 166929961-166929962, 166930002, 166930006, 166930069
554SLC25A1220.9990181639666222037172644420, 172644426
555ITGA620.99755799755883276173292517-173292521, 173292624-173292626
556CHRNA120.96579330422125471374175618241-175618243, 175618246-175618269, 175618955-175618967, 175622325-175622331
557CHN120.99275362318841101380175869622-175869631
558HOXD1320.96220930232558391032176957619-176957622, 176957679-176957695, 176957711-176957713, 176957740-176957741, 176957750, 176957811-176957813, 176957822, 176958105-176958111, 176958114
559AGPS20.97268588770865541977178257582-178257618, 178257648-178257657, 178257700-178257706
560PRKRA20.99681528662423942179315069, 179315711, 179315724
561DFNB5920.98016997167139211059179318279-179318288, 179318332-179318337, 179319092-179319095, 179325142
562TTN20.99998004947732100248179417733, 179433955
563BMPR220.99294193134424223117203378464-203378478, 203378541-203378547
564NDUFS120.98443223443223342184207017212-207017230, 207018374, 207018378-207018389, 207018401-207018402
565ACADL20.9992266047950511293211069342
566PNKD20.910189982728841041158219204527-219204558, 219204598-219204604, 219204777, 219204783-219204791, 219204818, 219204827, 219205451-219205452, 219205458, 219205475, 219206257-219206259, 219206707-219206747, 219209625-219209629
567CYP27A120.9981203007518831596219647106-219647108
568WNT10A20.99122807017544111254219745718-219745722, 219745815, 219757583, 219757605-219757607, 219757859
569DES20.855626326963912041413220283185-220283227, 220283234-220283283, 220283330-220283365, 220283448-220283452, 220283470-220283488, 220283578-220283581, 220283622-220283633, 220283667-220283674, 220283705-220283721, 220284984, 220285309, 220290433-220290439, 220290696
570OBSL120.6399578281497120495691220416251-220416378, 220416398, 220416401, 220416453-220416520, 220416839-220416938, 220417261-220417315, 220417323-220417419, 220417590-220417746, 220418322-220418347, 220418380-220418391, 220418395, 220418408, 220419199-220419200, 220419212-220419215, 220419225-220419231, 220419258, 220419332, 220419364-220419376, 220419388-220419390, 220419396, 220419402-220419404, 220420762, 220420770-220420777, 220420845-220420864, 220420876, 220420880-220420882, 220420888, 220420904-220420940, 220421243-220421267, 220421278-220421279, 220421283-220421291, 220421295, 220421298, 220421351-220421358, 220421393-220421426, 220421432, 220421436-220421445, 220422106-220422109, 220422137-220422138, 220422166, 220422173-220422176, 220422190, 220422253, 220422319, 220422323-220422340, 220422545-220422558, 220422571, 220422587-220422633, 220422647-220422677, 220422794-220422815, 220422971-220422983, 220423002-220423107, 220423115-220423145, 220423947-220423968, 220423989-220424070, 220424087-220424096, 220424102, 220424126-220424136, 220424167-220424219, 220427140-220427167, 220427171-220427179, 220427184, 220427232-220427270, 220427312-220427328, 220427360, 220427369-220427370, 220427395-220427396, 220428077, 220428094-220428102, 220428137-220428148, 220428161-220428187, 220428270-220428274, 220428295-220428300, 220428312-220428314, 220430032-220430035, 220430038, 220430066-220430070, 220430217-220430224, 220430234, 220431643-220431659, 220431999-220432006, 220432046-220432047, 220432063, 220432166, 220432533, 220432545-220432548, 220432622, 220432668-220432677, 220432803, 220432806, 220432912-220432913, 220432924-220432929, 220433016, 220433029, 220434948-220434950, 220435058-220435066, 220435075-220435077, 220435136-220435138, 220435236-220435239, 220435251-220435267, 220435292-220435307, 220435317-220435357, 220435391-220435395, 220435467-220435473, 220435486-220435534, 220435552-220435688, 220435694, 220435715-220435786, 220435803-220435819, 220435827-220435929, 220435949, 220435952-220435954
571COL4A420.99782780410742115064227924281, 227924879-227924884, 227942698-227942700, 227968768
572COL4A320.98982645122681515013228029452-228029494, 228145271-228145277, 228163425
573SLC19A320.9993293091884611491228563991
574CHRND20.783140283140283371554233390928-233390931, 233390937, 233390973-233390977, 233391247, 233391263, 233392111-233392113, 233394649-233394726, 233394778, 233394803, 233394807-233394817, 233396062-233396067, 233396070, 233396080, 233396083, 233396092-233396102, 233396105-233396109, 233396126-233396128, 233396252-233396262, 233396269-233396283, 233396291-233396360, 233396364, 233398648-233398652, 233398682-233398695, 233398707, 233398718-233398742, 233398781, 233398784, 233398817-233398837, 233399037, 233399840-233399858, 233399867-233399876, 233399914, 233399994-233400000
575CHRNG20.868725868725872041554233404458-233404512, 233404702-233404706, 233404709, 233404725, 233404735, 233404739, 233404821-233404824, 233404832, 233404841, 233405107-233405116, 233405344-233405387, 233406107, 233406112, 233407176-233407177, 233407672, 233407675, 233407785, 233408376, 233409086-233409087, 233409092-233409102, 233409124, 233409129-233409132, 233409137-233409152, 233409205, 233409234, 233409239-233409255, 233409258, 233409482, 233409494, 233409498, 233409502, 233409507, 233409513-233409522, 233409576, 233409590, 233409612
576COL6A320.99790224459828209534238234248, 238244971-238244972, 238249099-238249104, 238249156-238249159, 238249310-238249312, 238271914-238271917
577AGXT20.428329092451236741179241808300-241808374, 241808384-241808388, 241808400-241808447, 241808587-241808756, 241808772-241808778, 241810061-241810125, 241810766-241810820, 241810846-241810866, 241812396, 241812417, 241812448-241812466, 241813395-241813424, 241813455-241813479, 241814596-241814602, 241816954-241816988, 241817016-241817049, 241817468-241817518, 241818137-241818140, 241818197-241818217
578D2HGDH20.570881226053646721566242674643-242674676, 242674679, 242674682, 242674687, 242674715-242674756, 242674777-242674778, 242674809, 242674812-242674814, 242674865-242674870, 242674873-242674875, 242674887, 242674890, 242680448-242680458, 242680474-242680497, 242689566-242689619, 242689635-242689648, 242689672-242689709, 242690661-242690703, 242690718, 242690744-242690791, 242695264-242695290, 242695314-242695317, 242695331-242695429, 242707125-242707158, 242707170-242707280, 242707288-242707339, 242707369-242707384
579C20orf54200.96382978723404511410741788, 741805, 744348-744391, 745896-745899, 745909
580AVP200.82424242424242874953063321-3063324, 3063338-3063345, 3063363, 3063392, 3063404-3063440, 3063629-3063658, 3063676, 3063762-3063764, 3063774, 3063778
581PANK2200.99474605954466917133869795, 3869798, 3869978, 3870209-3870210, 3870247-3870249, 3870262
582PRNP200.98162729658793147624680042, 4680046, 4680053-4680062, 4680066, 4680214
583PROKR2200.954861111111115211525282793-5282827, 5282874-5282875, 5283138-5283146, 5283198-5283203
584JAG1200.9879682800109444365710653349-10653352, 10653594-10653626, 10654156-10654162
585THBD200.94212962962963100172823028418-23028443, 23028451-23028452, 23029006, 23029332-23029338, 23029390, 23029482-23029514, 23029523, 23029529, 23029681-23029699, 23029893-23029901
586SNTA1200.82345191040843268151832000149, 32000216-32000232, 32000417-32000452, 32000459-32000460, 32000463, 32031126-32031133, 32031147-32031191, 32031199-32031265, 32031292-32031299, 32031324-32031349, 32031364, 32031371-32031426
587GDF5200.90903054448871137150634021741, 34021965, 34022275, 34022356-34022371, 34022395-34022396, 34022411-34022413, 34022425, 34025078-34025080, 34025091-34025092, 34025108-34025110, 34025158-34025190, 34025246-34025286, 34025342, 34025364, 34025415-34025416, 34025504, 34025542-34025566
588HNF4A200.9782456140350931142543052759-43052789
589ADA200.6978021978022330109243251661-43251671, 43251693, 43251705-43251711, 43252855-43252909, 43252924-43252938, 43252968-43252970, 43254220, 43254278, 43254287-43254304, 43255097-43255103, 43255127-43255156, 43255167, 43255183-43255217, 43255226, 43257702-43257788, 43257792-43257796, 43257801-43257810, 43264875-43264876, 43264923-43264929, 43280216-43280248
590CTSA200.99398797595199149744520238-44520246
591CD40200.8657074340527611283444756782-44756827, 44756969-44756970, 44757521-44757557, 44757564, 44757567, 44757570-44757571, 44757574, 44757598-44757619
592SALL4200.9958886780518713316250418838-50418850
593STX16200.99284253578732797857245632-57245638
594GNAS200.6951219512195122573857415162-57415227, 57415239-57415250, 57415319-57415346, 57415393-57415405, 57415452, 57415455-57415474, 57415560-57415595, 57415607, 57415678, 57415779-57415782, 57415796, 57415809, 57415859-57415899
595GNAS200.77681438664098695311457428343, 57428348-57428352, 57428376, 57428437-57428470, 57428477-57428514, 57428539-57428541, 57428695, 57428707-57428717, 57428772, 57428980, 57429055-57429143, 57429185-57429239, 57429274-57429277, 57429282, 57429287-57429289, 57429327-57429355, 57429447, 57429463, 57429488-57429510, 57429514, 57429544-57429571, 57429592-57429619, 57429625-57429696, 57429715-57429759, 57429783-57429788, 57429791, 57429812-57429836, 57429854-57429893, 57429915, 57429928, 57429940-57429958, 57429969-57429975, 57429995-57430032, 57430066, 57430070, 57430082-57430090, 57430094-57430104, 57430130-57430158, 57430190-57430203, 57430274-57430280, 57430324-57430325, 57430331-57430333, 57430364-57430365, 57430368, 57430380
596EDN3200.983263598326361271757875902-57875907, 57876474, 57876541-57876542, 57876548, 57876553, 57876747
597COL9A3200.61751824817518786205561448417-61448494, 61448919-61448987, 61449874-61449881, 61449897-61449905, 61450574-61450598, 61450614, 61450644, 61451281-61451313, 61451320-61451334, 61452533-61452568, 61452859-61452870, 61453109-61453145, 61453492-61453516, 61453943-61453951, 61453966, 61453972-61453980, 61455797-61455799, 61455825-61455853, 61456320-61456335, 61456342-61456373, 61457200-61457222, 61457556-61457603, 61458142-61458165, 61458593-61458623, 61460116-61460137, 61460275-61460284, 61460313-61460328, 61460817-61460825, 61460836, 61460980-61461021, 61461123, 61461719, 61461722, 61461727, 61461744-61461765, 61461869-61461874, 61461884-61461885, 61461898-61461928, 61463537, 61464396-61464416, 61467539, 61467611-61467614, 61467618, 61467642, 61467645, 61468505-61468520, 61471979
598CHRNA4200.0822717622080681729188461978090-61978215, 61981005-61981497, 61981508-61981811, 61981819-61981830, 61981841-61981893, 61981906-61982018, 61982030-61982061, 61982071-61982098, 61982124, 61982154-61982167, 61982170, 61982189-61982257, 61982275-61982352, 61982358-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
599KCNQ2200.0889652539137082386261962037997-62038728, 62039766-62039889, 62044803-62044872, 62044878-62044934, 62045441-62045456, 62045481-62045498, 62045521-62045546, 62046268-62046387, 62046392-62046409, 62046414-62046454, 62046462, 62046473-62046479, 62050972-62051004, 62055541, 62059720-62059788, 62062693-62062704, 62062719-62062722, 62065162-62065169, 62065178, 62065187-62065194, 62065203-62065256, 62069978-62069980, 62070010-62070020, 62070024-62070041, 62070045-62070048, 62070057-62070073, 62070951-62071002, 62071008-62071061, 62073759-62073884, 62076012-62076187, 62076591-62076604, 62076614-62076717, 62078100-62078190, 62103521-62103816
600SOX18200.16450216450216965115562679519-62679532, 62679537-62679587, 62679624-62679627, 62679632, 62679635-62679646, 62679656, 62679665-62679688, 62679721-62679785, 62679794-62679827, 62679833-62679834, 62679838-62679839, 62679847-62679850, 62679853-62679868, 62679874-62679912, 62679920-62679923, 62679948, 62679950-62680006, 62680019-62680225, 62680238-62680256, 62680266-62680315, 62680512-62680869
601APP210.999567661046261231327542899
602BACH1210.999547715965631221130715120
603IFNGR2210.9250493096646976101434775850-34775922, 34793809, 34793916, 34799291
604RCAN1210.812911725955214275935987063-35987070, 35987152-35987223, 35987236-35987297
605CLDN14210.979166666666671572037833283-37833287, 37833303-37833304, 37833315, 37833527, 37833563, 37833585, 37833614, 37833716, 37833726, 37833904
606CBS210.89432367149758175165644474042, 44476917-44476926, 44476929-44476931, 44476990-44476994, 44478359-44478363, 44478968-44478983, 44479052, 44479055, 44479067-44479075, 44483188, 44485560-44485563, 44485566, 44485739, 44485760-44485763, 44488636, 44488675-44488679, 44488682-44488710, 44492095-44492097, 44492100, 44492149-44492177, 44492185-44492219, 44492262-44492271
607CSTB210.97979797979798629745196114-45196117, 45196146-45196147
608AIRE210.191086691086691325163845705890-45705912, 45705920-45706021, 45706440-45706467, 45706472, 45706475-45706534, 45706537, 45706555-45706562, 45706583-45706614, 45706874-45706887, 45706922-45706963, 45706969-45706978, 45706995-45707016, 45707402-45707421, 45707432-45707474, 45708235-45708243, 45708255-45708262, 45708293, 45709540-45709542, 45709564-45709671, 45709871-45709940, 45710978-45711093, 45712185-45712284, 45712876-45712900, 45712903, 45712923-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717544-45717597
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641SUMF130.99822222222222211254508855, 4508862
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739IL12B50.995947315096254987158747403, 158747406, 158747410-158747411
740NKX2-550.66461538461538327975172659654-172659667, 172659672-172659682, 172659733-172659747, 172659810-172659821, 172659827-172659867, 172659910-172659930, 172659949-172659973, 172659984-172659986, 172659990-172659991, 172660005-172660007, 172660022, 172660025-172660028, 172660033-172660037, 172660046-172660048, 172660054, 172660060-172660064, 172660067, 172660070, 172660095-172660123, 172660129-172660151, 172660159-172660190, 172661866-172661877, 172661908, 172661910-172661914, 172661919-172661932, 172661954-172661992, 172662000-172662003
741MSX250.9477611940298542804174151725-174151738, 174151961-174151981, 174152024-174152030
742NSD150.9998764058830818091176562888
743F1250.8625429553264680582176830255-176830334
744F1250.750541125541134611848176830255-176830334, 176830378-176830381, 176830390-176830392, 176830397, 176830482, 176830505-176830566, 176830588-176830594, 176830598, 176830863-176830865, 176830875-176830878, 176830885, 176830890-176830908, 176830913-176830917, 176830929-176830939, 176830947-176830976, 176831012, 176831028-176831030, 176831034-176831036, 176831045, 176831059-176831085, 176831212, 176831237-176831280, 176831293-176831305, 176831358-176831381, 176831501-176831534, 176831562-176831592, 176831607-176831611, 176831826, 176831843, 176831852-176831861, 176832062-176832070, 176832790, 176832799, 176833008-176833025, 176836528
745NHP250.72077922077922129462177576752-177576764, 177576780-177576782, 177576815-177576827, 177577971-177577973, 177580526-177580529, 177580659-177580692, 177580733-177580791
746GRM650.781321184510255762634178408660-178408704, 178408719-178408724, 178409917-178409919, 178410038, 178410077-178410113, 178413174-178413180, 178413344-178413346, 178413430-178413463, 178413497, 178413514, 178413523, 178413576-178413608, 178413641, 178413646, 178413691, 178413695-178413696, 178413700-178413714, 178413850-178413886, 178413926-178413956, 178415964, 178415971-178415974, 178415982, 178415992-178416004, 178416094-178416128, 178416288, 178416397, 178417733, 178418923-178418940, 178418963-178418981, 178418995-178419021, 178419081-178419084, 178421489-178421497, 178421516-178421539, 178421566-178421570, 178421575-178421576, 178421580-178421582, 178421585-178421589, 178421597-178421598, 178421668-178421696, 178421733-178421749, 178421775-178421795, 178421829-178421858, 178421861-178421869, 178421878-178421907, 178421941-178421945
747SQSTM150.83900226757372131323179247937-179247953, 179247977, 179247990-179248141, 179249958, 179250011, 179250937, 179251210, 179251225, 179260137, 179260153-179260155, 179260212-179260215, 179260221-179260223, 179260227-179260229, 179260720-179260726, 179260729, 179260740-179260755
748FLT450.1290322580645235644092180030209, 180035993-180036027, 180036931-180036935, 180036972-180036980, 180036992-180036993, 180037023-180037025, 180038331-180038394, 180038418-180038434, 180038465-180038479, 180039506-180039563, 180039580-180039586, 180039595-180039599, 180039604-180039606, 180040019, 180040045-180040046, 180040076-180040110, 180041068-180041129, 180041154-180041179, 180043367-180043489, 180043900-180043972, 180043978-180043994, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048904, 180049731-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
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750TUBB2B60.8572496263079219113383225002-3225004, 3225008-3225012, 3225111-3225119, 3225272-3225278, 3225284-3225333, 3225390-3225415, 3225443-3225478, 3225626, 3225647, 3225742, 3225746, 3225959-3225967, 3226822-3226824, 3227727, 3227733-3227763, 3227771-3227777
751GCM260.999342537804081152110874442
752ATXN160.9742647058823563244816327615, 16327865-16327870, 16327884-16327939
753ALDH5A160.993321190042511164724495474-24495484
754HFE60.9885386819484212104726087699-26087710
755ZFP5760.999379267535691161129640599
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757TNXB60.76671850699844450192931976471, 31976835, 31976842, 31976855, 31976896-31976929, 31977054-31977071, 31977090, 31977176-31977182, 31977327, 31977362-31977394, 31977522-31977555, 31977586, 31977626-31977644, 31977743, 31977748, 31977779, 31977787-31977790, 31977794, 31977994-31978023, 31978043-31978054, 31978229-31978262, 31978354, 31978498-31978527, 31978947-31978949, 31978975, 31979038, 31979324, 31979346-31979387, 31979416-31979460, 31979475-31979482, 31979489-31979541, 31979575, 31979615-31979639, 31979982, 31980039, 31980089
758CYP21A260.72311827956989412148832006200-32006235, 32006317, 32006337, 32006360-32006393, 32006499-32006508, 32006530, 32006578, 32006871-32006879, 32006957, 32006960, 32006963-32006988, 32007006-32007015, 32007191-32007222, 32007402, 32007612, 32007858-32007864, 32008248-32008266, 32008332-32008361, 32008646-32008661, 32008668-32008767, 32008812-32008834, 32008856-32008907
759TNXB60.943357687171037211272932009126-32009164, 32009194, 32009206, 32009221, 32009567-32009604, 32009634-32009664, 32009789-32009828, 32009888-32009917, 32010059-32010066, 32010097-32010129, 32010247-32010262, 32010272, 32010282-32010287, 32010309-32010378, 32010476-32010493, 32010513, 32010521-32010534, 32010539, 32010548, 32010598-32010608, 32010728-32010756, 32010777-32010788, 32010830, 32010963-32010996, 32011057, 32011088, 32011232-32011261, 32011664, 32011803, 32011892-32011896, 32012200-32012238, 32012248-32012284, 32012304-32012336, 32012343-32012396, 32012411-32012419, 32012429, 32012466, 32012476-32012493, 32012783, 32012893, 32012978-32012985, 32013010-32013041, 32024676, 32025995, 32029207, 32029211, 32029216, 32029415, 32035456-32035459, 32064304
760HLA-DQA160.99088541666667776832610492-32610498
761HLA-DQB160.7913486005089116478632629124-32629173, 32629224-32629234, 32629963, 32632575-32632653, 32632708-32632722, 32632770, 32632779-32632785
762SYNGAP160.9806547619047678403233388042-33388108, 33391356, 33393621-33393628, 33393631-33393632
763FANCE60.996275605214156161135420411, 35420416, 35420421, 35420424-35420426
764TULP160.85267034990792240162935466116-35466122, 35466197, 35466209, 35466218, 35473518-35473524, 35473570, 35473575-35473577, 35473808-35473822, 35473881-35473882, 35473945-35473950, 35478778, 35478783-35478786, 35479425-35479436, 35479485, 35479489-35479530, 35479574-35479575, 35479579-35479583, 35479957-35479968, 35479979-35480008, 35480022-35480047, 35480416-35480429, 35480435-35480464, 35480601-35480609, 35480614-35480620, 35480630
765MOCS160.7592883307169460191139876854-39876855, 39881159, 39881168-39881172, 39883830, 39883894-39883902, 39883937-39883960, 39893422-39893589, 39895068-39895317
766GUCA1B60.99170812603648560342152576-42152580
767PEX660.997281685355088294342935239-42935246
768RSPH960.7328519855595722283143612836-43613007, 43613013-43613062
769RUNX260.9814814814814829156645390463-45390488, 45480020-45480022
770MUT60.997336884154466225349409571-49409576
771PKHD160.99885480572597141222551618131-51618134, 51889600-51889601, 51889721, 51890182, 51890505, 51890635, 51892676, 51892684-51892686
772EYS60.999894011658721943566063465
773SLC17A560.9784946236559132148874345122-74345152, 74345196
774MYO660.999740798341111385876595729
775PDSS260.992591200107531672, 107595316-107595320, 107780269-107780271
776SEC6360.98948751642576242283108204220, 108279176-108279177, 108279191-108279210, 108279213
777OSTM160.83184079601991691005108395459-108395473, 108395670-108395728, 108395738-108395762, 108395780-108395814, 108395821-108395855
778FIG460.99559471365639122724110048415-110048424, 110048431, 110059554
779COL10A160.999510523739612043116442335
780LAMA260.99102851650112849363129621881-129621906, 129634198-129634199, 129635808-129635834, 129635890-129635898, 129635901, 129635927, 129712730-129712741, 129775300-129775304, 129775399
781ENPP160.9974802015838772778132129176, 132129206-132129209, 132129224, 132129288
782PEX760.9598765432098839972137143851-137143869, 137143896-137143898, 137143914, 137143925-137143933, 137147552-137147558
783SYNE160.99988633780405326394152603103-152603105
784TBP60.901960784313731001020170871010-170871109
785LFNG70.171929824561494411402559496-2559927, 2564329-2564377, 2564853-2564909, 2564916-2564951, 2565048-2565049, 2565057-2565157, 2565169-2565201, 2565319-2565334, 2565361, 2565363-2565388, 2565401-2565404, 2565878-2565900, 2565916-2565962, 2565972-2565975, 2565987, 2565997-2566003, 2566470, 2566477-2566478, 2566483-2566489, 2566495-2566504, 2566521, 2566530-2566555, 2566780-2566816, 2566826-2566846
786PMS270.9161838547701821725896013030-6013045, 6013089-6013121, 6017219-6017220, 6018249, 6018283, 6026390, 6026437, 6026509, 6026587-6026632, 6026640-6026656, 6026775, 6026801-6026842, 6026865, 6026887, 6026901-6026912, 6026959, 6026964-6026974, 6027113-6027119, 6029454, 6029463, 6029473, 6029484-6029487, 6029562-6029566, 6042258-6042267
787TWIST170.7914614121510712760919156628, 19156633, 19156686-19156688, 19156801-19156916, 19156939-19156944
788DNAH1170.9997789566755131357221582969-21582971
789DFNA570.9879275653923518149124742419-24742429, 24758787-24758790, 24758795-24758797
790HOXA1370.69751499571551353116727239170, 27239203-27239222, 27239260-27239263, 27239273-27239275, 27239316-27239422, 27239428-27239431, 27239440-27239653
791GLI370.96774193548387153474342004614-42004624, 42004866-42004871, 42004892-42004894, 42004909-42004913, 42005106-42005118, 42005229-42005236, 42005246-42005258, 42005269-42005274, 42005283-42005286, 42005530-42005542, 42005627-42005635, 42005648, 42005661-42005686, 42005698, 42005704, 42005810-42005811, 42005878-42005885, 42005898, 42005949-42005957, 42006033, 42006039-42006050
792PGAM270.906824146981637176244104725-44104750, 44104852, 44104855, 44104982, 44105015-44105022, 44105030, 44105040, 44105052-44105058, 44105099-44105123
793GCK70.8722341184868179140144185221, 44186077-44186101, 44190636-44190644, 44191870-44191917, 44191950-44191992, 44192916-44192919, 44193013-44193044, 44198672-44198685, 44198689, 44198713-44198714
794CCM270.50786516853933657133545039933-45039962, 45103539-45103541, 45104109, 45104113-45104119, 45104165-45104166, 45104238, 45108134-45108145, 45108178, 45109468, 45109473-45109480, 45109513-45109522, 45109529-45109530, 45112325-45112354, 45112366-45112382, 45113059-45113170, 45113869-45114007, 45115376-45115656
795DDC70.9556479556479664144350571693-50571707, 50595877-50595885, 50597006-50597008, 50605655, 50605675-50605677, 50607663-50607695
796EGFR70.999449490778972363355087029, 55268997
797ASL70.64659498207885493139565547867-65547876, 65548119, 65551615, 65551640-65551649, 65551731-65551770, 65551785-65551808, 65553800-65553847, 65553882-65553908, 65554096-65554139, 65554158, 65554275-65554283, 65554599, 65554607, 65554617-65554665, 65554674-65554682, 65557002-65557073, 65557544-65557552, 65557559-65557588, 65557615-65557616, 65557620-65557631, 65557755-65557798, 65557844-65557892
798KCTD770.941379310344835187066094138-66094188
799NCF170.7406060606060621482572639949-72639998, 72640036, 72641447, 72643637, 72643645, 72643670, 72643704-72643710, 72644203-72644247, 72644293, 72645868-72645882, 72648660-72648750
800ELN70.81793103448276396217573442525-73442599, 73456994-73457013, 73457022, 73459590-73459596, 73462045, 73462857, 73466087-73466088, 73466101, 73466105, 73466109-73466124, 73466143-73466169, 73466254-73466313, 73467495-73467499, 73467585-73467607, 73467613-73467619, 73467629-73467639, 73471013-73471015, 73474235, 73474301, 73474316-73474319, 73474475, 73474706, 73474722, 73474733, 73474786-73474787, 73474794, 73474825, 73477528-73477554, 73477648-73477687, 73477951-73477960, 73477968-73477996, 73478024, 73480274-73480286, 73481101
801NCF170.69565217391304357117374193603-74193605, 74193665-74193680, 74195129, 74197287, 74197300-74197329, 74197385-74197391, 74197974, 74199539-74199565, 74202336-74202432, 74202903-74202944, 74202953-74202959, 74202971-74203048, 74203383-74203409, 74203423-74203439, 74203461-74203462, 74203488
802POR70.168379833578071699204375608769-75608791, 75608810, 75608832-75608880, 75609657-75609682, 75609685, 75609703-75609806, 75610371, 75610374-75610375, 75610381-75610407, 75610427-75610490, 75610835-75610924, 75611543-75611640, 75612838-75612954, 75613056-75613174, 75614095-75614276, 75614376-75614525, 75614897-75615167, 75615241-75615386, 75615477-75615559, 75615655-75615799
803HSPB170.3155339805825242361875932030-75932132, 75932141-75932156, 75932176, 75932185-75932193, 75932197-75932203, 75932217, 75932227-75932283, 75932290-75932361, 75932368-75932393, 75933119-75933137, 75933147, 75933178-75933182, 75933318-75933320, 75933332-75933362, 75933399-75933407, 75933414, 75933423-75933484
804ABCB470.999739583333331384087051499
805AKAP970.99786762197202251172491682055-91682056, 91690661, 91706256-91706259, 91707183, 91712576-91712583, 91712785-91712793
806PEX170.999221183800623385292132483, 92134047, 92140951
807COL1A270.997805413313839410194056577-94056579, 94058592-94058593, 94058618, 94058679, 94058703, 94058717
808TFR270.97381546134663632406100230716, 100230726-100230746, 100231039-100231040, 100231097, 100231100, 100238603-100238623, 100238695-100238702, 100238752, 100238757-100238758, 100238761-100238764, 100238839
809SERPINE170.9983457402812221209100771717-100771718
810RELN70.99768719283032410377103194238-103194239, 103206706-103206714, 103212649, 103214725-103214732, 103216055-103216056, 103234275, 103322674
811SLC26A470.97012377294067702343107302087-107302101, 107302113-107302115, 107302174-107302178, 107303741-107303743, 107303773, 107303801-107303826, 107314705-107314721
812CFTR70.98086878235427854443117120162-117120185, 117188713-117188766, 117188847-117188853
813AASS70.9992808342322922781121769464-121769465
814PAX470.9980620155038821032127251191, 127251630
815IMPDH170.862777777777782471800128035297, 128035308-128035311, 128037013-128037019, 128038507-128038513, 128038531-128038571, 128040209-128040222, 128040392, 128040496-128040517, 128040927, 128045823-128045824, 128045829-128045830, 128045869, 128045872, 128045916-128045919, 128049396-128049403, 128049810-128049905, 128049918-128049945, 128049949-128049955
816FLNC70.889948642699939008178128470692-128470749, 128470761-128470764, 128470773-128470848, 128470879-128470903, 128470914-128470960, 128470966-128471043, 128475380-128475381, 128475465-128475486, 128475511, 128475605-128475628, 128477214-128477244, 128477251-128477311, 128477476-128477482, 128477533-128477542, 128477715-128477741, 128478344-128478345, 128478349, 128478448-128478474, 128478690-128478731, 128478773-128478809, 128480094, 128480100, 128480103-128480107, 128480682, 128480712-128480713, 128481288, 128481308, 128481415, 128481508-128481550, 128482286, 128482294-128482296, 128482397, 128482684, 128482712-128482714, 128482856-128482870, 128482883, 128482887, 128482895-128482900, 128482916, 128483495-128483542, 128483591-128483616, 128483628, 128484064-128484076, 128484240, 128484251, 128484816, 128484819-128484820, 128485045, 128489511, 128490510, 128490519-128490522, 128490532, 128490937-128490961, 128491310, 128491316-128491318, 128491402, 128491607-128491614, 128492706-128492708, 128492777, 128492980, 128494088, 128494201, 128494221, 128494256-128494268, 128494509, 128494513, 128494521, 128494527, 128494530, 128494539, 128494584-128494587, 128494594-128494596, 128496646, 128496685, 128496895-128496935, 128498077, 128498082, 128498085, 128498114, 128498119, 128498186-128498193
817ATP6V0A470.97423701942132652523138394415-138394479
818BRAF70.99521946979574112301140624408, 140624411-140624420
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887COL5A190.6211709262280220905517137534034-137534142, 137582758-137582782, 137582803-137582814, 137582819-137582822, 137582834-137582839, 137582849-137582925, 137591755-137591917, 137591938-137591954, 137593017-137593179, 137620564-137620567, 137620573-137620574, 137620578, 137620621-137620633, 137623347, 137630327, 137630334-137630348, 137630594-137630595, 137630642, 137642388-137642408, 137642418, 137642424-137642440, 137642456-137642462, 137642636-137642728, 137644435-137644477, 137645696-137645742, 137646119-137646144, 137646159-137646163, 137648611-137648664, 137650097-137650137, 137653771-137653824, 137655539-137655583, 137657527-137657580, 137658300-137658304, 137658318-137658344, 137658853-137658899, 137659164, 137660256-137660276, 137660297, 137664636-137664650, 137664656-137664668, 137664677-137664679, 137666724-137666731, 137666751, 137666754, 137671982, 137674513-137674559, 137676838-137676862, 137676869, 137676914-137676917, 137676921-137676942, 137677858-137677883, 137686928-137686931, 137687116-137687144, 137688243, 137688254-137688255, 137688694-137688696, 137690296-137690307, 137693800-137693805, 137693822-137693846, 137694753-137694799, 137694817-137694830, 137696863-137696908, 137697007-137697033, 137698043, 137698059-137698061, 137698084, 137698105, 137703339, 137703417, 137704317, 137705843-137705855, 137705865-137705867, 137706708-137706738, 137707448-137707454, 137707802-137707819, 137708872-137708877, 137709624-137709677, 137710502-137710507, 137710520-137710568, 137710578-137710609, 137710694-137710699, 137710728, 137710868, 137710893-137710895, 137712026-137712032, 137713955-137713973, 137716512, 137716682-137716692, 137717664, 137726817-137726827, 137726834-137726838, 137726843, 137726871-137726896, 137726899-137726951, 137726983-137727050, 137734003-137734004, 137734008, 137734069-137734077, 137734088, 137734093-137734104, 137734108-137734112, 137734118, 137734121-137734127, 137734131
888LHX390.693961952026473701209139089181-139089202, 139089235-139089238, 139089274-139089278, 139089281-139089283, 139089361-139089399, 139089454-139089455, 139089471, 139089485, 139089568-139089578, 139090498-139090499, 139090552-139090561, 139090584-139090608, 139090620-139090624, 139090651-139090666, 139090754-139090822, 139090845-139090905, 139091571, 139091574, 139091577, 139091620-139091625, 139091641, 139091676, 139094796-139094878
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890NOTCH190.09872196139801869117668139390535-139390601, 139390605, 139390633-139391023, 139391041-139391833, 139391840-139392010, 139393369, 139393383-139393440, 139393448, 139393564-139393599, 139393606-139393651, 139393667-139393668, 139393680, 139393708-139393711, 139395004-139395030, 139395036, 139395039-139395041, 139395045-139395076, 139395085-139395269, 139395277-139395278, 139395291-139395299, 139396200-139396365, 139396453-139396520, 139396528-139396540, 139396724-139396796, 139396810-139396940, 139397634-139397653, 139397698-139397782, 139399125-139399290, 139399301-139399328, 139399344-139399556, 139399769-139399887, 139399910-139400085, 139400096, 139400110-139400333, 139400979-139400996, 139401009-139401037, 139401044-139401091, 139401168-139401217, 139401230-139401233, 139401274-139401304, 139401319, 139401327-139401339, 139401344-139401348, 139401370-139401425, 139401768-139401781, 139401796, 139401800-139401882, 139401885-139401889, 139402407-139402590, 139402684-139402778, 139402798-139402837, 139403322-139403491, 139403516-139403517, 139403521-139403523, 139404189-139404201, 139404223, 139404226-139404230, 139404235-139404236, 139404254-139404262, 139404270-139404331, 139404372-139404373, 139404377-139404378, 139404404, 139405105-139405128, 139405134-139405179, 139405192-139405224, 139405228-139405231, 139405241-139405257, 139405604-139405690, 139405699-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409099, 139409118-139409154, 139409742-139409852, 139409935-139410070, 139410099-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413246, 139413256-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
891AGPAT290.08363201911589767837139568204-139568379, 139569187-139569259, 139571037-139571079, 139571097, 139571100-139571132, 139571413-139571420, 139571423, 139571431-139571496, 139571512-139571588, 139571875-139571974, 139571992-139571998, 139581628-139581809
892SLC34A390.1327777777777815611800140126155-140126170, 140126222-140126226, 140126532-140126548, 140126562-140126613, 140127027-140127155, 140127236-140127241, 140127248-140127379, 140127456-140127474, 140127492-140127502, 140127508-140127513, 140127525-140127535, 140127564-140127567, 140127661-140127755, 140127782-140127807, 140127819-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129069, 140129087, 140129090, 140129098, 140129105-140129183, 140130404-140130465, 140130476-140130557, 140130566-140130868
893EHMT190.6538362843212713493897140513481-140513501, 140605419-140605476, 140611078-140611634, 140622880-140622920, 140622948-140622972, 140638509, 140669562, 140669568-140669571, 140669583-140669606, 140669615-140669666, 140671070, 140671117-140671153, 140671165-140671174, 140671201-140671212, 140671225, 140671230-140671286, 140672336-140672381, 140672387-140672423, 140672462-140672507, 140674087-140674098, 140674125-140674137, 140695371, 140705913-140705915, 140705981, 140706012, 140707582, 140707850, 140707946-140707979, 140708888-140708892, 140708905, 140708910, 140708931-140708932, 140708938-140708954, 140711891-140711911, 140711950, 140712585-140712589, 140728801-140728805, 140728815-140728827, 140728876-140728925, 140728933, 140728936-140728940, 140728946-140728948, 140728952, 140728960-140728963, 140728967-140728970, 140728974, 140729244-140729284, 140729295, 140729298, 140729301-140729304, 140729312-140729357, 140729363-140729367, 140729371, 140729384-140729386, 140729397-140729405
894SHOXX0.52787258248009415879591633-591888, 591895-591909, 595353-595356, 595364-595366, 595381-595405, 595431-595445, 595465-595561
895CSF2RAX0.326436781609287913051401608-1401613, 1401625-1401652, 1401671-1401672, 1404671-1404813, 1407417, 1407437-1407446, 1407449, 1407492, 1407497-1407509, 1407652-1407653, 1407712, 1407729-1407731, 1407758, 1407762-1407769, 1409254-1409273, 1409291-1409307, 1409313, 1409328-1409361, 1409379-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422893, 1422901-1422912, 1424343, 1424361-1424362, 1424369-1424420, 1428295-1428303, 1428314-1428320
896NLGN4XX0.9983680130559424515947321-5947324
897KAL1X0.9985315712188320438565276-8565278
898GPR143X0.99843137254902212759707554-9707555
899PHKA2X0.9964940668824213370818969316-18969325, 19002048-19002050
900SMSX0.982742960944619110121958943, 21958946-21958959, 21958962-21958965
901ARXX0.84014209591474270168925022917-25022921, 25025318-25025323, 25025329, 25025333-25025342, 25025354-25025356, 25025368-25025376, 25031150, 25031355, 25031425-25031428, 25031450, 25031453-25031457, 25031470-25031475, 25031479-25031516, 25031545, 25031549-25031617, 25031654-25031666, 25031671-25031672, 25031697-25031705, 25031777-25031782, 25031802-25031815, 25031843-25031849, 25031856-25031908, 25033697-25033702
902GKX0.995788206979547166230683672-30683678
903DMDX0.99810092240912211105832407618-32407620, 32408244-32408261
904RPGRX0.8100607111882657345938144804-38144807, 38144940-38144961, 38145021-38145037, 38145061-38145072, 38145153-38145159, 38145187-38145198, 38145218-38145232, 38145247-38145257, 38145277-38145326, 38145338-38145381, 38145390-38145778, 38145791-38145807, 38145833-38145868, 38145896, 38146010-38146016, 38146158, 38146184-38146185, 38146415-38146424
905BCORX0.94324221716021299526839930903-39930912, 39931670, 39931796-39931811, 39931858-39931869, 39931893-39931901, 39931907, 39931910, 39932053-39932071, 39932105-39932111, 39932173-39932188, 39932214-39932218, 39932260-39932261, 39932360-39932375, 39932388-39932389, 39932599-39932625, 39932922-39932928, 39932936, 39932946, 39932952-39932962, 39933036, 39933058-39933061, 39933129, 39933132, 39933240-39933257, 39933300-39933328, 39933333-39933340, 39933418-39933424, 39933548-39933567, 39933634-39933641, 39933656-39933667, 39933711-39933718, 39934069-39934077, 39934355-39934363
906ATP6AP2X0.9886039886039912105340456868-40456879
907NYXX0.971645919778741144641332796-41332807, 41333245-41333246, 41333385-41333405, 41333545, 41333963-41333967
908CASKX0.997830802603046276641598651-41598656
909UBA1X0.9955933270380914317747058655, 47058659-47058669, 47061650-47061651
910SYN1X0.99716713881026211847466398-47466403
911PQBP1X0.913533834586476979848755825-48755826, 48755829, 48758467-48758477, 48758536-48758537, 48758563-48758578, 48759301-48759314, 48759759-48759760, 48759769-48759775, 48760046-48760049, 48760252-48760261
912CACNA1FX0.9974721941354915593449067108-49067115, 49079509-49079512, 49087420-49087422
913FOXP3X0.996913580246914129649107824-49107827
914BMP15X0.9489795918367360117650654051-50654090, 50658983-50658984, 50659063-50659064, 50659121-50659123, 50659544-50659556
915FGD1X0.9923769923769922288654494255-54494262, 54494353-54494358, 54497104-54497111
916ARX0.9942091929062616276366765149-66765151, 66765154-66765166
917MED12X0.9946434037343135653470338629-70338632, 70348968-70348974, 70357428-70357429, 70357702-70357709, 70357779-70357781, 70360663-70360665, 70360668-70360672, 70361097, 70361106, 70361109
918NLGN3X0.9951749095295512248770367956-70367962, 70368004-70368008
919GJB1X0.98943661971831985270444340-70444348
920TAF1X0.9941921858500533568270586182-70586214
921SLC16A2X0.999457111834961184273641569
922ABCB7X0.998231653404074226274376104-74376107
923ATP7AX0.998889629136135450377245183-77245187
924AGTR2X0.9954212454212551092115304202-115304206
925UPF3BX0.9944903581267281452118968895-118968902
926XIAPX0.814591700133872771494123019532-123019538, 123019585-123019616, 123019673-123019676, 123019728, 123019736, 123019746-123019754, 123019783-123019818, 123019844-123019848, 123019873-123019879, 123019923-123019931, 123019957-123019977, 123020002-123020033, 123020073-123020105, 123020166-123020171, 123020182, 123020185-123020186, 123020324-123020350, 123022510-123022537, 123022559-123022568, 123025127-123025132
927FHL1X0.71913580246914273972135288592-135288609, 135288621-135288657, 135288724-135288747, 135289219-135289225, 135289236-135289238, 135289255-135289283, 135289307-135289313, 135289324-135289349, 135290034-135290062, 135290097-135290100, 135290635-135290641, 135290680, 135290727-135290753, 135290776-135290800, 135291402-135291410, 135291476-135291477, 135291572-135291583, 135292084-135292086, 135292109, 135292112-135292113
928ZIC3X0.98789173789174171404136648907-136648910, 136649503, 136651213-136651224
929SOX3X0.811334824757642531341139585932-139585946, 139585996-139586017, 139586028-139586029, 139586059-139586073, 139586123-139586163, 139586181-139586188, 139586261-139586306, 139586353, 139586419-139586420, 139586457-139586481, 139586494-139586527, 139586651-139586657, 139586673-139586674, 139586687, 139586691-139586701, 139586865-139586866, 139587090-139587108
930FAM58AX0.9482993197278938735152864444-152864447, 152864477, 152864487, 152864490-152864521
931SLC6A8X0.852201257861642821908152954030-152954067, 152954075-152954221, 152954287-152954291, 152956788-152956794, 152956949, 152956952-152956957, 152957562, 152958533-152958537, 152958564-152958567, 152958924-152958931, 152959041, 152959857-152959863, 152959988, 152960062-152960085, 152960248-152960258, 152960317-152960323, 152960661-152960669
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934MECP2X0.95724782899132641497153295965-153295970, 153296051, 153296055-153296058, 153296201-153296207, 153296210-153296212, 153296300, 153296303, 153297824-153297827, 153297850-153297881, 153363074-153363078
935OPN1LWX0.9954337899543451095153421781-153421785
936OPN1MWX0.92420091324201831095153457303-153457309, 153458911-153458919, 153458978-153458999, 153459039-153459083
937OPN1MWX0.91689497716895911095153494421-153494427, 153496029-153496034, 153496096-153496128, 153496157-153496201
938FLNAX0.7418177240684820517944153577380, 153577733-153577734, 153577764-153577767, 153577770-153577772, 153577820-153577822, 153577849-153577852, 153577855, 153577901-153577925, 153578031-153578044, 153578151-153578156, 153578508-153578543, 153579315-153579316, 153580032-153580049, 153580304-153580324, 153580562-153580566, 153580613-153580620, 153580666-153580667, 153580679-153580694, 153580935-153580941, 153580954-153580955, 153580962, 153580967-153580979, 153581191-153581194, 153581383-153581389, 153581443-153581447, 153581506-153581517, 153581531, 153581542-153581545, 153581558, 153581680-153581691, 153581721-153581746, 153581760, 153581807-153581825, 153581933-153581939, 153582024-153582025, 153582366-153582371, 153582545-153582617, 153582650-153582659, 153582765-153582777, 153582984-153583009, 153583069-153583076, 153583193-153583200, 153583205, 153583356-153583362, 153583369, 153583373-153583374, 153583392-153583425, 153585809-153585836, 153585908-153585939, 153586584-153586593, 153586617-153586630, 153586672-153586704, 153586848-153586873, 153587372-153587395, 153587399-153587401, 153587420-153587427, 153587460-153587500, 153587642, 153587652-153587658, 153587692-153587709, 153587726-153587742, 153587852-153587859, 153587884-153587940, 153587991-153588001, 153588103-153588123, 153588147-153588183, 153588187, 153588230-153588273, 153588372-153588456, 153588466-153588484, 153588511-153588522, 153588547-153588553, 153588578-153588604, 153588629, 153588686-153588728, 153588756-153588768, 153588792-153588801, 153588838-153588879, 153588887-153588890, 153588895-153588914, 153588941-153588955, 153589744-153589848, 153589892-153589901, 153590042, 153590063-153590073, 153590376, 153590380-153590399, 153590435-153590448, 153590632-153590634, 153590637, 153590786-153590794, 153590821-153590827, 153590854-153590871, 153590924-153590926, 153590938-153590939, 153591041-153591049, 153592392-153592407, 153592523-153592533, 153592638-153592644, 153592670-153592687, 153592732, 153592917-153592920, 153592930-153592938, 153592971, 153592975-153593007, 153593047-153593062, 153593207-153593230, 153593259-153593260, 153593269-153593276, 153593551-153593572, 153593624-153593627, 153593756-153593766, 153593803-153593854, 153594407-153594415, 153594432, 153594439-153594459, 153594681-153594708, 153594990-153594991, 153595779-153595785, 153595807, 153595810, 153595899-153595912, 153596016-153596031, 153596212-153596254, 153596258-153596260, 153596273-153596313, 153596325-153596367, 153599241-153599242, 153599266-153599318, 153599383-153599388, 153599436, 153599439, 153599492-153599545, 153599575-153599580, 153599583-153599585, 153599588-153599606
939EMDX0.84575163398693118765153607895-153607900, 153607917-153607926, 153608050-153608085, 153608139-153608154, 153608682, 153608698, 153608709-153608712, 153609120-153609140, 153609378-153609383, 153609481, 153609484-153609488, 153609508-153609510, 153609513-153609518, 153609555-153609556
940TAZX0.77820025348542175789153640181-153640207, 153640235-153640289, 153640426-153640428, 153640490-153640491, 153640494, 153640503-153640533, 153641550-153641566, 153641898, 153648384-153648415, 153648551-153648556
941GDI1X0.727678571428573661344153665603-153665612, 153665633-153665634, 153665639-153665641, 153666869-153666890, 153666918-153666976, 153667137-153667186, 153667370-153667380, 153667423-153667439, 153668288-153668319, 153668347-153668371, 153668399-153668405, 153668473-153668486, 153668722-153668748, 153668798-153668815, 153669461, 153669464-153669473, 153669513-153669524, 153670029-153670033, 153670037, 153670041-153670047, 153670135-153670141, 153670731-153670751, 153670754, 153670759-153670761, 153670934
942G6PDX0.95238095238095781638153760252-153760278, 153760304-153760305, 153760403, 153760409-153760413, 153760495, 153760616-153760618, 153760859-153760864, 153761010-153761017, 153761228-153761233, 153761261-153761267, 153761301-153761302, 153761312, 153761315, 153762605-153762608, 153775048-153775051
943IKBKGX0.95013661202186731464153780203-153780206, 153780404, 153784380-153784384, 153784456-153784468, 153784576-153784591, 153786747-153786769, 153788624, 153788672-153788675, 153788722-153788725, 153788728, 153788768
944DKC1X0.9948220064724981545154001479-154001486
945USP9YY0.999217527386546766814847659-14847661, 14952342-14952344
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhomozygous0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2OGG1-R46Qhet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
2CFH-V62Ihomozygous0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2C3-E659*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
2C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
2PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PKHD1-N830Shomozygous0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2DPYD-M166Vhet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
2DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
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
2PCSK9-A53Vhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G126Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R3638Qhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihomozygous0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5APOA5-S19Whet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1NR_027052-Q90*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-Q107RRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO3A-A833Shomozygous0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
1MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
1MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A210Thet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADRB2-G16Rhomozygous0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1SLC41A3-L501Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SPG7-T503Ahomozygous0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SPG7-R688Qhomozygous0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1LIG4-T9Ihomozygous0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
1LIG4-A3Vhet unknown0.036Dominant
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
1TMC3-D1098Nhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TMC3-S1044*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TMC3-C892Yhomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
1EVC-R760Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GNGT2-Q17Rhomozygous0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
1SLCO1A2-E172Dhet unknown0.042Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
1CYP2B6-R22Chet unknown0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.639 (possibly damaging)
1COL11A2-P1316Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KNTC1-V2021Ghomozygous0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1NR_015394-G45WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-F74ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-T113ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT10-G130GGFGGGGFGGGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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)
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1OPHN1-V39Ihomozygous0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KCNJ10-R271Chet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATRX-H865QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKP1-R684WhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-T478Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PINK1-A340Thet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1EXOSC3-Y225Hhomozygous0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
1DGKK-D1111Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C2orf71-S1225SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C2orf71-L792VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA4-P1948Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA4-R212Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-CP92WRhet unknownUnknown
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
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AMPD1-K287Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SPTLC1-R151Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SRPX-P225Shomozygous0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1CR622587-I63Nhomozygous0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CR622587-R101ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1USH2A-S5188Ghet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-K5026Ehet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-R4848Qhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-G4838Ehet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.75ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ABCA12-T2544Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ABCA12-N15Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-A859Vhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSH2-G322Dhet unknown0.011Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.065 (benign), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5TNRC6A-Q1112Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ABCC1-G671Vhet unknown0.044Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GLCE-M65Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GLCE-V597Ihet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.5FSHR-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
0.5FHOD1-P533Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SLC28A1-V189Ihomozygous0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-Q237Khomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TBC1D21-R113Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.895 (probably damaging)
0.5LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-E432Dhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRAP1-R692Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.483 (possibly damaging)
0.5TRAP1-Y444Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRAP1-R307Ghet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP6V1B1-T30Ihomozygous0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLX4-A1221Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.263 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLX4-P1122Lhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLX4-A952Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-L671Shet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-N457Khet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-R204Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5WNK4-T790Nhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.693 (possibly damaging), Testable gene in GeneTests
0.5KCNJ12-I100Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-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-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)
0.5CCDC159-Q29Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCDC159-C34*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CCDC159-E37Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCDC159-C278Shet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CACNA1A-E917Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-I505Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ICAM1-R478Whet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.873 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLK13-H109Yhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5MYH14-A1250Ehet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DHDH-G282Rhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RFX1-Q230Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RFX1-P224Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-LS1419WRhet unknownUnknown
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-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF224-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
0.5TGFB1-P10Lhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM98C-C227Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5FAM98C-T240Khet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.485 (possibly damaging)
0.5FAM98C-W341Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM98C-K349KKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CD3EAP-Q504Khomozygous0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5FXYD3-G97Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NPHS1-E117Khomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5BCAT2-Q100Ehet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.28 (possibly damaging), Testable gene in GeneTests
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-DK1772GQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-A357Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BZRAP1-A586Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BZRAP1-Q514Rhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5STAT5B-R295Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5STAT5B-G187Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5QPCT-H360Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5KRTAP4-12-S150Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRTAP4-12-S148Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRTAP4-12-I147Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRT33B-E85Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5ZNF154-R192*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF154-L182Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG3-V509Mhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5DSG3-R575Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.512 (possibly damaging)
0.5DSG3-T912Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO5B-M1688Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-R918Hhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF880-V12Mhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-Y150Chet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF530-T64Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.827 (possibly damaging)
0.5ZNF530-H110Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF530-T169Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5SCN4A-L1598Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-FE1050Y*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DIAPH3-P588Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ONECUT1-P75Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
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-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANUBL1-R462Qhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ANUBL1-K118Thomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-N642Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OLAH-A219Phet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5NLRP3-Q705Khet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IDI1-G12Ahet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CC2D2B-Q401Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HPS1-G283Whet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
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
0.5IGHMBP2-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-R694Whet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP5-L347Vhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASP5-T119Ahomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASP5-G9Vhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MADD-R766*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-S435Ghet unknownUnknown
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
0.5BAG3-C151Rhomozygous0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK160367-D257Ehomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-M356Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-V377Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUP133-G854Dhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NUP133-Q406Rhet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUP133-I294Vhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SYDE2-V1157Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-V569Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-S422Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RTCD1-F349*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5RTCD1-V351Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STIL-H985Rhomozygous0.279Unknown
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
0.5ESPN-R422Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-E442Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5KCNQ4-YL257SMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.5KCNQ4-E509Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTM1-K173Nhet unknown0.264Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-Q2620Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-R1405Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-S1857Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NVL-V404Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEAR1-S234Phomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEAR1-S381Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5HSPA6-N170Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-R173Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-P178Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-A181Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-G447Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5C1orf125-I522Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C1orf125-T721Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C1orf125-DQ722EThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C1orf125-D724Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C1orf125-CL725LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C1orf125-L727Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FCGR3A-F212Vhomozygous0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahomozygous0.461Unknown
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
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEP1-I2486Mhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-W2327Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1772Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-T1175Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1155Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1668Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TJP1-D1347Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GATM-Q110Hhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5INF2-S1215Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5INF2-K1220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5ATXN3-V212Mhomozygous0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RDH12-R161Qhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5PARP4-A1656Phet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I1564Thomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-L1550Phomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1459Yhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1394Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-P1328Thet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-G1280Rhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-G1265Ahet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-R1108Chomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-L1080Rhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-V1065Ahomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-M936Thomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-A899Thomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I81Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CLECL1-H7Qhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.944 (probably damaging)
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5KIF21A-E1224Dhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF21A-G614Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-I723Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-P1542Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FOXJ2-A500Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FOXJ2-S503Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FOXJ2-G504Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SCNN1A-W552Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HYLS1-C31Rhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-P1823Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RAD52-S346*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5COL2A1-E142Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-R149Chomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC62-V532Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC62-T646Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SKA3-D335Ehet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SGCG-R116Hhomozygous0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6C-R182Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5KRT74-E271Dhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5KRT74-N165Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5ITGA7-E886Khet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGA7-R655Hhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-T91Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CAPN7-A128Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CHRNA2-T125Ahomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNA2-T22Ihet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5PXDNL-V1327Dhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PXDNL-C1258*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PXDNL-M981Vhet unknown0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PXDNL-R391Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5XKR9-L222Fhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.3 (possibly damaging)
0.5CLCN2-T668Shomozygous0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALDH5A1-G36Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-P182Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP6V0A4-T769Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDGFRA-G79Dhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests
0.5PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-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-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CLCN1-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
0.5PROM1-S19Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAML1-G97Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.403 (possibly damaging)
0.5ZFP57-R187Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFHX4-I2036Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.077 (benign)
0.5ZFHX4-V3033Ghet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.889 (probably damaging)
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5ANO10-R462Qhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO10-R263Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM91A1-I704Vhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FAM91A1-C800Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.069 (benign)
0.5CYP21A2-R103Khomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MYH15-Q1731*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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)
0.5SLC9A10-V1058Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5SLC9A10-M844Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC9A10-Q732Khomozygous0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5SLC9A10-T705Ihomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5LRRCC1-H69Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRCC1-T210Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MYLK-D914Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MYLK-L861Phet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-R845Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYLK-L496Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-V261Ahomozygous0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5MYLK-P147Shomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-P21Hhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5REV3L-T1224Ihet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5REV3L-S1220Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.201 (possibly damaging)
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA2018-V2200Ahomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA2018-S1818Ghet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5KIAA2018-P222Ahet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V199Ihet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AMBN-L354Phet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging)
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V3094Ihet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5GLI3-S1028Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), 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
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TET3-P294Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LECT2-G63Ehet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LECT2-I58Vhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5WDR36-I264Vhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDZD2-D6Nhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5PDZD2-C1415Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDZD2-R2247Qhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
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
0.5GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP9-S27Lhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCG2-G110Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCG2-V12Mhet unknown0.045Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LAMB4-N866Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR3C2-N78Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCB1-Q1107Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCB1-N21Dhet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA4-F85Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FRMD1-Q456Ehomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FRMD1-H383Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.742 (possibly damaging)
0.5FRMD1-G150Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5IL12B-V298Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.84 (possibly damaging), Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TDO2-N229Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.851 (probably damaging)
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5POMT1-V305Ihet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-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
0.5CASP8-D344Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAJC10-D76Nhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DNAJC10-M517Lhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAJC10-H646Qhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP10-Y446Chet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.39 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATIC-T116Shomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TNS1-V1604Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-W1197Rhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-R1004Whet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-R466Chet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNS1-N102Hhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNS1-V25Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL4A3-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-R408Hhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-H451Rhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TG-D206Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5TG-Q515Ehet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5SETX-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
0.5QSOX2-R524Whet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5QSOX2-K126Ehet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYB5R4-L334Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CYB5R4-S335*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CYB5R4-F337Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EFHC1-R182Hhet unknown0.044Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.038 (benign), Testable gene in GeneTests
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A30189Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R19629Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T8694Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K7081Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhet unknown0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZC3H8-K287Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ELOVL4-E272Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWA3B-E372*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWA3B-L677Vhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-V885Mhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-D1223Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5VWA3B-R1245Khomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP7A-E1350Khomozygous1.000Unknown
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
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DYNC1I2-R613Whet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5DYNC1I2-R616*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5SCN9A-N1245Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN9A-W1150Rhomozygous0.878Dominant
benign
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
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5LY75-K1347Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.895 (probably damaging)
0.5LY75-K1321Nhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY75-P1247Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5LY75-D807Ehomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY75-E268Dhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5ITGB6-G470Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-QE1214HQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-VVWSH1204AVWSQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-H156Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PCNT-R3245Shet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.5PRODH-A472Thet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBXL4-H35Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging)
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T217Ihet unknown0.179Unknown
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-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q158Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D89Ahet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D89Ahet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R87Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q85Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A70Vhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-F2418Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYCP2-T353Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.881 (probably damaging)
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5CYP2D6-H94Rhomozygous0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-L91Mhomozygous0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-P34Shomozygous0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL17RE-A7Vhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging)
0.5FANCD2-N405Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCD2-K770Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCD2-T833Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCD2-K871Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG12-I393Vhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BTNL2-S360Ghet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-S334Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BTNL2-K196Ehet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-D118Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5AGER-G82Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-L1235Phet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5UHRF1BP1-Q454Rhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UHRF1BP1-H821Yhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5UHRF1BP1-M1098Thet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
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
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL4-I798Lhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TGM6-M58Vhomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TGM6-R448Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH8-N434Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH8-I573Vhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-G807Ehet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-E1202Khet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-T3707Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DNAH8-I4271Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IPPK-L376Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5IPPK-R130Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.375VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375VCAN-G2638Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.375MAN2B1-N880Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.375MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.375ANK2-R1582Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ANK2-P2835Shet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25OR8U8-H20Rhomozygous0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A51Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T53Ehet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S54Khet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-V91Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OR8U8-IS109TAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-S112Chet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L131Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-T137Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F153Ihet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-M155Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR8U8-R165Chet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25OR8U8-F200Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25OR8U8-M206Thet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25OR8U8-S209Chet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L211Vhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S223Fhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-H229Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-G242Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A267Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T270Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-Q293Rhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SDK1-L538Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SDK1-H1641Rhomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VWDE-F1485Chet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-Q1256Khet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-P1096Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25VWDE-T1032Mhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-K964Nhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-S607Fhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-S142Fhet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-E19Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VWDE-M13MIALMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARHGEF17-T699Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARHGEF17-P1022Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AHR-R554Khet unknown0.222Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25OBSCN-F2116Lhet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.25OBSCN-Y2716*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25OBSCN-V2720Mhomozygous0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.839 (possibly damaging)
0.25OBSCN-C4450Rhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.25OBSCN-D4962Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25IFI16-A104Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IFI16-S179Thet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFI16-T392Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IFI16-R409Shomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFI16-Y413Nhomozygous0.683Unknown
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
0.25BAI1-DA331EPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BAI1-V1179Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAPTM4B-W9Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LAPTM4B-A22Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25LEPR-K656Nhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (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
0.25WNK2-V828Mhet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WNK2-C1108Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25WNK2-M1201Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25WNK2-V1635Shifthet 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
0.25CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LSP1-SL66RPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LSP1-R243Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LSP1-Q273*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25ACADSB-I316Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIL-N239Shomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIL-R29Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TRIL-A22Shifthomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF669-AR22LGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF669-S11Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA1549-V874Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA1549-S799Lhomozygous0.436Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1549-P602Lhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1549-R567Ghomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1549-P436Ahomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRWD1-H223Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRWD1-K224Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARMC5-I170Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.505 (possibly damaging)
0.25ARMC5-A931Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLB1-C521Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLB1-P20Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C17orf57-V312IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-Y546*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MAPT-Q230Rhet unknown0.042Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.895 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABHD14B-E170Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABHD14B-T167Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RSAD1-A119Thet unknown0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RSAD1-L126Shet unknown0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RSAD1-A202Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ANKRD30B-F477Lhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.25ANKRD30B-T977Mhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD30B-D1079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKRD30B-N1345Khomozygous0.953Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EVPL-Q433Rhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EVPL-V150Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UPK3A-A154Phet unknown0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UPK3A-W182*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNGB1-D942Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNGB1-R100Hhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PKD1L2-L2414Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Thet unknown0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Thet unknown0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-A863Vhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q250Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-L173Shet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhomozygous0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K77Nhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhomozygous0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARHGAP31-T727Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARHGAP31-G803Shomozygous0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ARHGAP31-I1038Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NR_027336-T162Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_027336-P160LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DZIP1L-K645Ehomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DZIP1L-V636Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DZIP1L-R593Hhomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.118 (benign)
0.25DZIP1L-T545Ahomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.25DZIP1L-R321Whomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.854 (probably damaging)
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPO-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
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25DHX34-S536Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DHX34-Q1092Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25THADA-C1605Yhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.387 (possibly damaging)
0.25THADA-T1187Ahet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25ZNF142-R1053Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF142-L956Hhet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF142-A541Shet unknown0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25SRC-L270Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SRC-L272Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DOCK6-D1564Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DOCK6-P250Lhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phet unknown0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25DM119432-G67Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DM119432-H54Rhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARRDC2-W256Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARRDC2-H272Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25CPN2-Q509Whet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Whet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NR_024418-V103Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_024418-S90Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PCDHB10-T213Rhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.885 (probably damaging)
0.25PCDHB10-R543Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CENPJ-S879Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25CTAGE10P-P697Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTAGE10P-A729Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTAGE10P-T772Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CTAGE10P-R773Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SULT1A1-V223Mhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SULT1A1-S55Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-W511Rhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25SLC10A2-S171Ahomozygous0.891Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC10A2-W66*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF219-Q720Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF219-QP233Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25MLL-L105Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL-F112Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTDSP2-P227Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTDSP2-L214Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CTDSP2-R205Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BAG6-S619PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BAG6-T391Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HLA-H-R141Qhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTTP-Q95Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-I128Thet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-H297Qhet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25C15orf39-A119Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C15orf39-P346Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C15orf39-A475Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C15orf39-G491DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C15orf39-G945DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-A398Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25CORO7-L722Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CORO7-G719Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CORO7-R193Qhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CWH43-P2Thet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CWH43-L533Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CWH43-H689Nhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AKAP5-F37Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AKAP5-T203Ihomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA2-E534Khet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DUOX2-S1067Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DUOX2-H678Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DUOX2-P138Lhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLA2G4E-R394Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLA2G4E-G37Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0ERCC2-E98Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0VPS13A-E367*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,710,400,988 bases (94.8% of callable positions, 88.0% of total positions)

Coding region coverage: 30,265,168 bases (90.9% of all genes, 92.1% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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