- GET-Evidence variant report

Variant report for

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1ACE-R496XHighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
Reported to cause renal tubular agenesis, reported by OMIM. This comes from Gribouval et al 2012 (PMID: 22095942), a case study which found this variant homozygous in an affected newborn.1
2HEXA-R504CHighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.000092954Reported to cause Tay-Sachs disease in a recessive manner, recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004112/). A couple different publications mention this variant, including Neudorfer et al 2005 (PMID: 15714079) who report 2 Tay-Sachs patients carrying this variant compound heterozygously out of 21 studied.1
3RYR2-G1886SHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0613424Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.1
4CYP24A1-R396WModerateLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.000650678Several report strongly confirm this is associated with hypercalcemia of infancy, acting in a recessive manner. The condition is rare, and is described as "idiopathic" (sporadic) – it's unclear what the risk is for the condition, if an individual carries homozygous or compound heterozygous genotype.1
5PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
6FMO3-P153LModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0022309Reported to cause trimethylaminuria, causing affected individuals to have a fishy body odor. Recorded by OMIM and GeneReviews, this comes from Dolphin et al 1997 (PMID: 9398858). According to OMIM, these authors found the variant in three different affected families.1
7MBL2-R52CLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.048615This 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 D. See G54D (variant B) and G57E (variant C).1
8rs5186LowLikelyLikely pathogenic

Unknown, Homozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
9MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
10ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Homozygous
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
11WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
12RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
13TLR5-R392XLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0439673This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.1
14H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
15TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
16SP110-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
17rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Homozygous
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
18CASP10-V410ILowLikelyLikely protective

Dominant, Heterozygous
0.0474066Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).1
19CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
20IL7R-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
21KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
22TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
23ADA-D8NLowLikelyLikely benign

Dominant, Homozygous
0.0295359This common variant is reported to reduce adenosine deaminase enzyme activity. It has been associated with an increased tendency for non-REM sleep -- more slow wave sleep, less nocturnal wakings, and a stronger negative impact of sleep deprivation. A role for this gene and variant was previously proposed for autism susceptibility, but this is controversial and was not replicated by later studies.1
24CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
25NEFL-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
26SDHD-G12SLowLikelyLikely benign

Unknown, Heterozygous
0.008087Reported to increase risk of Cowden disease, although this was already contradicted by a prior report of it as a non-pathogenic polymorphism. The report claiming a pathogenic effect (Ni et al.) may have had errors in analysis, and their observation of the variant in patients isn't different from the frequency of the variant in ExAC data.1
27OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
28MLH1-I219VLowUncertainUncertain benign

Dominant, Homozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
29RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
30COG1-T350MLowUncertainUncertain benign

Unknown, Homozygous
0.00650678Uncertain, presumed benign. Seen in 2 out of 128 control chromosomes. Although predicted to be damaging by Polyphen 2, recessive disease caused by disruption of this gene is presumed extremely rare and the only report of a disease-causing mutation in this gene was a frameshift (much more severe).1
31ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
32CD19-R514HLowUncertainUncertain benign

Unknown, Homozygous
0.0482432Presumed benign.1
33APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
34GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
35PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
36SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
37PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
38MAPT-Q230RLowUncertainUncertain benign

Unknown, Heterozygous
0.0420019Common polymorphism.1
39TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31653490 / 33282720 = 95.10%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.5742913000977526136138955553-955753, 957581-957609, 957660-957670, 957674-957708, 957727-957788, 957800-957839, 970662-970698, 976045-976067, 976077-976089, 976114-976137, 976142, 976146, 976153-976260, 976553-976664, 976684-976690, 976694, 976714-976755, 976763-976777, 976858-976872, 976888-976922, 977041-977047, 977081-977082, 977426, 977429, 977453, 977480-977486, 977509, 977513-977515, 978619, 978630, 978653-978654, 978665-978674, 978697-978720, 978732-978752, 978762-978784, 978796-978837, 978918-978928, 979000, 979015-979022, 979045-979083, 979093-979098, 979106, 979203-979211, 979270-979287, 979295-979325, 979356, 979370-979403, 979596-979603, 979624-979637, 979813-979814, 980615-980621, 980649, 980653-980657, 980800-980801, 980824, 980829, 980875, 980902-980903, 981144-981149, 981159-981164, 981195, 981221, 981228, 981433, 981572-981578, 981793-981809, 981824-981898, 981916-982007, 982026, 982072-982114, 982200-982209, 982214, 982224, 982247-982287, 982304-982310, 982726-982755, 982980-982984, 982994, 983063-983067, 983156-983168, 983180, 983199-983230, 983240-983255, 983429-983450, 983473-983542, 983548-983576, 983587-983745, 984247-984353, 984359-984390, 984434-984439, 984642-984714, 984729-984767, 984786-984831, 985046-985049, 985060, 985078-985085, 985102-985103, 985110, 985151-985175, 985283-985293, 985311, 985329, 985345-985351, 985397, 985627-985631, 985636-985638, 985850-985891, 986205-986217, 986633-986637, 986673-986680, 986695-986696, 986699-986733, 986739, 986833-986909, 986974, 987108-987128, 987160, 987164, 987179, 989167-989183, 989199-989219, 989243-989299, 989322-989323, 989828-989843, 989868, 989880, 989893, 990204-990218, 990239-990257, 990260, 990265, 990293-990307, 990324, 990329-990330, 990334-990337, 990347, 990350
2GABRD10.22442972774099105413591950863-1950930, 1956381-1956397, 1956445-1956478, 1956485-1956493, 1956806-1956832, 1956957-1957016, 1957029, 1957037-1957065, 1957076, 1957099-1957177, 1959016-1959041, 1959054-1959059, 1959063-1959089, 1959615-1959722, 1960550-1960705, 1960990-1961022, 1961031-1961072, 1961100-1961131, 1961142-1961173, 1961183, 1961422-1961662, 1961677, 1961681, 1961699-1961721
3PEX1010.892966360856271059812337923-2337961, 2338271-2338276, 2340004, 2340013, 2340016-2340022, 2340185-2340186, 2340200-2340204, 2343830, 2343837-2343872, 2343895-2343901
4NPHP410.9630927353422115842815934667, 5934706, 5947380-5947381, 5947385, 5947458, 6029233, 6038330-6038473, 6046222-6046227, 6046237
5ESPN10.7356725146198867825656485026-6485116, 6485134, 6485184-6485223, 6485239, 6485283-6485298, 6488300-6488337, 6488376-6488392, 6488429, 6488463-6488479, 6500373-6500393, 6500413-6500437, 6500452, 6500463, 6500466, 6500485-6500489, 6500701-6500716, 6500738-6500777, 6500806, 6500833-6500834, 6500839-6500855, 6500864-6500868, 6501029-6501065, 6501097-6501106, 6504565-6504594, 6504621-6504648, 6504666-6504679, 6505731-6505738, 6505779, 6505817, 6505849-6505854, 6505891, 6505900, 6505916-6505919, 6508702, 6508712, 6508730, 6508763, 6508828-6508857, 6508973-6508982, 6509045-6509071, 6509100-6509106, 6509139-6509151, 6511706, 6511751-6511757, 6511902-6511933, 6511982, 6512024, 6512045, 6512080-6512081, 6512106-6512133, 6512148-6512156, 6517286-6517292
6PLEKHG510.9027908435246231031896527625, 6527948, 6527967, 6528106, 6528236-6528254, 6528294-6528297, 6528342-6528348, 6528540, 6528547, 6529179-6529222, 6529618, 6529702, 6529714-6529719, 6529726-6529728, 6530643-6530667, 6530843-6530844, 6530874, 6531087, 6531093-6531095, 6532627-6532668, 6534516, 6534538-6534582, 6534612-6534647, 6535144-6535168, 6535542-6535552, 6536011-6536026, 6537700, 6537714, 6556554, 6556622, 6556626-6556628, 6557380-6557383
7KIF1B10.9866365518539471531310357030, 10357081-10357084, 10381857-10381859, 10381881-10381886, 10381904, 10383954-10383968, 10384852, 10384875-10384899, 10394629-10394631, 10425290, 10425500, 10425551-10425554, 10431251, 10435321-10435325
8PEX1410.9797178130511523113410659330-10659352
9TARDBP10.994377510040167124511082356-11082362
10MASP210.84619116933527317206111097847, 11102932-11102945, 11102969-11102971, 11102974, 11103035, 11103073-11103079, 11103399-11103476, 11103488-11103508, 11103528-11103558, 11105465-11105527, 11105551, 11105555, 11105588-11105596, 11106638-11106657, 11106672-11106674, 11106948-11106967, 11107066, 11107070-11107074, 11107080-11107082, 11107119, 11107126-11107145, 11107167, 11107170-11107176, 11107260-11107264
11MTHFR10.92947742262811139197111853977, 11853980, 11854548, 11854843-11854848, 11854855-11854856, 11854896, 11855183-11855198, 11855249-11855252, 11856285-11856290, 11856297, 11856352, 11856355, 11860281, 11860349-11860350, 11861219, 11861322-11861367, 11862969-11862993, 11863001-11863005, 11863008, 11863011, 11863085-11863100
12PLOD110.998626373626373218411994844, 12030749, 12034791
13MFN210.9881266490765227227412049343, 12049388-12049400, 12057360, 12057364, 12062074-12062080, 12064607, 12064968, 12067261, 12067290
14CLCNKA10.9031007751938200206416354391-16354397, 16355629-16355631, 16355790-16355794, 16356485-16356489, 16356495-16356496, 16356499-16356501, 16356504, 16356522, 16356956-16356967, 16356991-16357017, 16357038, 16357041-16357065, 16357068, 16357079, 16357111-16357118, 16357163-16357169, 16358205-16358236, 16358291-16358303, 16358311, 16358334-16358338, 16358754-16358786, 16360141-16360147
15CLCNKB10.9893410852713222206416370994-16371000, 16371067, 16373124, 16374530, 16375063-16375064, 16377044-16377047, 16378731, 16378775, 16380196-16380198, 16382006
16ATP13A210.99915325994923354317313615-17313617
17PINK110.99713631156935174620960230, 20960235, 20960238, 20960243, 20971071
18ALPL10.9739682539682541157521889768-21889769, 21894714, 21896850-21896861, 21902226-21902229, 21902291, 21902295, 21903887-21903902, 21903957, 21903986-21903988
19HSPG210.970931997571343831317622149894-22149900, 22149915-22149921, 22149924, 22149935-22149949, 22150185-22150209, 22150643, 22151032, 22151061-22151064, 22151198, 22151218, 22151236-22151237, 22151260-22151272, 22154386-22154387, 22154392-22154412, 22154536-22154549, 22154585, 22154603, 22154638-22154640, 22154793, 22154799-22154803, 22154915-22154918, 22155387-22155390, 22155396-22155399, 22155415, 22155455-22155461, 22155500-22155528, 22155560, 22155921-22155928, 22155999, 22156038-22156073, 22156564, 22157545, 22167605, 22168110, 22169916-22169918, 22172703-22172704, 22173941-22173942, 22174524-22174526, 22174532-22174533, 22178722, 22186067, 22186394, 22198745, 22198748, 22199124-22199139, 22199521-22199533, 22203033-22203039, 22207203, 22207216, 22207221-22207223, 22211314-22211343, 22211624-22211626, 22213959-22213961, 22213970, 22263648-22263710
20WNT410.9270833333333377105622469339-22469415
21RPL1110.96089385474862153724019099-24019100, 24019142, 24019181, 24019192, 24019200-24019202, 24019223, 24019240, 24019243-24019249, 24020307, 24020316, 24020319, 24020361
22FUCA110.84439685938615218140124186299, 24186310, 24186387-24186393, 24189705-24189726, 24192005, 24192019-24192066, 24194396, 24194399-24194407, 24194440-24194467, 24194556-24194587, 24194633, 24194661-24194706, 24194718, 24194722, 24194758-24194776
23LDLRAP110.955771305285874192725870208-25870241, 25870271-25870277
24SEPN110.89028776978417183166826126722-26126904
25KCNQ410.95210727969349100208841249766-41249785, 41249802, 41249808-41249809, 41249818-41249824, 41249835, 41249851-41249856, 41249862-41249890, 41249898-41249900, 41249907-41249910, 41249955-41249960, 41249970-41249974, 41250003-41250005, 41250027, 41250054-41250055, 41250060, 41250075-41250076, 41284256-41284257, 41284281, 41284296, 41284303, 41285109, 41300690
26LEPRE110.9814563545906841221143227994-43228002, 43232425-43232431, 43232618-43232642
27MPL10.9863731656184526190843806130-43806153, 43818254, 43818386
28MUTYH10.99745060548124156945798305-45798307, 45798313
29STIL10.9945694336695121386747717189, 47717552, 47726098-47726099, 47735430-47735433, 47735479-47735489, 47737811, 47767914
30ORC110.95978344934261104258652838892-52838925, 52841185-52841192, 52851526-52851532, 52851539-52851576, 52851618, 52854123, 52854168, 52854269, 52854278, 52867089, 52867112-52867122
31DHCR2410.998710509348812155155331092, 55352755
32ALG610.999346405228761153063881552
33LEPR10.999714122355631349866083822
34CTH10.9326765188834282121870895510-70895518, 70896000-70896012, 70896022, 70896040, 70897770, 70897788-70897804, 70897835-70897861, 70897916, 70899533, 70899631-70899632, 70904493, 70904499-70904506
35GLMN10.81176470588235336178592728461-92728462, 92729195, 92729218-92729219, 92729230, 92729234-92729237, 92729264-92729269, 92729272, 92730146, 92731977, 92733482-92733483, 92733510-92733555, 92733672-92733690, 92754471-92754475, 92754586-92754649, 92754690-92754708, 92755759-92755765, 92755773-92755830, 92755862-92755863, 92756980-92756985, 92756989-92757002, 92757030-92757035, 92757094, 92762961-92762984, 92763034-92763059, 92763518-92763535
36ABCA410.9944297859865138682294471000-94471008, 94471063-94471070, 94471075, 94471114, 94473225-94473242, 94476374
37DPYD10.9824561403508854307897847954-97847988, 97848002-97848017, 97915766-97915768
38DBT10.9993098688750911449100696355
39COL11A110.896096756459595675457103352451, 103363681-103363734, 103364222-103364289, 103364294-103364300, 103364497-103364503, 103364512-103364531, 103364547-103364550, 103377715-103377761, 103379219-103379235, 103379239-103379240, 103379941, 103379947-103379949, 103380276-103380287, 103380296, 103380315-103380332, 103380341-103380344, 103381187-103381203, 103381229-103381235, 103385914-103385920, 103387106-103387123, 103400005, 103404631-103404633, 103404636-103404638, 103405892, 103405913-103405944, 103412426, 103412438, 103412460, 103412476-103412508, 103427451, 103427455, 103435778-103435779, 103435784, 103435800, 103435812, 103435817-103435828, 103440433-103440439, 103471437-103471447, 103471672-103471677, 103471832-103471856, 103477991, 103480067-103480080, 103480122-103480150, 103481224-103481248, 103481269-103481290, 103488390-103488395, 103491077-103491082, 103491109, 103491166, 103491412, 103491415, 103496800
40GSTM110.9101978691019859657110230854, 110231670-110231694, 110235885-110235917
41AMPD110.806149732620324352244115215735-115215740, 115215755-115215793, 115215835-115215893, 115216260-115216282, 115216311, 115216314, 115216344-115216345, 115216350, 115216362-115216370, 115216530-115216543, 115216566, 115216586-115216617, 115216631-115216658, 115216672-115216685, 115217376-115217396, 115217403-115217437, 115217464-115217493, 115218266, 115218269-115218271, 115218503, 115218580-115218581, 115218584-115218602, 115218622, 115220954-115220955, 115220969-115220970, 115221062, 115221065, 115221100, 115222211-115222234, 115222326-115222329, 115222973, 115223000-115223001, 115229385-115229390, 115231230-115231247, 115231294-115231323
42NRAS10.98596491228078570115251166-115251173
43CASQ210.9991666666666711200116269707
44HSD3B210.9597855227882451119119964949, 119965130-119965166, 119965218-119965224
45NOTCH210.978559870550161597416120539665-120539714, 120539778-120539784, 120539913-120539919, 120548022-120548064, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120612000-120612010
46PRPF310.95662768031189892052150297479-150297518, 150307538, 150316731-150316733, 150318580, 150318587-150318590, 150325402-150325441
47FLG10.87206630559659155912186152276273-152276287, 152276662, 152276714, 152276717-152276718, 152276726, 152276876-152276884, 152277164-152277170, 152277401-152277402, 152277437, 152277470, 152277487, 152277909, 152278133-152278139, 152278399-152278437, 152279105-152279111, 152279403-152279409, 152279627-152279667, 152279727, 152279888-152279913, 152279924-152279941, 152280002, 152280023-152280056, 152280147-152280150, 152280300, 152280512-152280558, 152280570-152280630, 152280649-152280650, 152280785, 152280788-152280789, 152280812, 152280820, 152281002, 152281005-152281009, 152281093-152281098, 152281110-152281154, 152281213, 152281287-152281333, 152281353, 152281531, 152281621, 152281644-152281649, 152281737-152281770, 152281796, 152281801, 152281804, 152281908-152281915, 152281944-152281972, 152282026, 152282097-152282114, 152282141-152282148, 152282231-152282232, 152282248, 152282254-152282255, 152282258-152282259, 152282270-152282323, 152282418-152282421, 152282430, 152282433, 152282561, 152282568-152282572, 152282577, 152282629, 152282661, 152282702, 152282732-152282756, 152282874-152282881, 152282888, 152282898-152282902, 152283003, 152283015, 152283018, 152283054, 152283070-152283140, 152283169-152283172, 152283176, 152283236, 152283275-152283278, 152283281-152283283, 152283287, 152283337-152283377, 152283475-152283513, 152283547, 152283577, 152283733, 152283785, 152283795, 152283830-152283877, 152283899, 152283915, 152283971-152284013, 152284041-152284043, 152284046-152284049, 152284087, 152284095, 152284099, 152284175-152284217, 152284241-152284244, 152284250-152284251, 152284313, 152284327-152284364, 152284422-152284425, 152284430-152284431, 152284583-152284606, 152284630-152284649, 152284674, 152284755, 152284783-152284786, 152284791, 152284834-152284851, 152284890-152284919, 152284929-152284964, 152284970-152285026, 152285034-152285074, 152285127, 152285184-152285214, 152285279, 152285320-152285346, 152285404-152285409, 152285470-152285482, 152285540, 152285592-152285599, 152285646, 152285653-152285654, 152285844, 152285879-152285896, 152285903, 152285978-152286005, 152286033, 152286050, 152286102, 152286109-152286111, 152286166-152286177, 152286233, 152286305-152286315, 152286383-152286423, 152286438-152286456, 152286541, 152286559, 152286608-152286609, 152286658, 152286717, 152286720, 152286752-152286781, 152286871-152286873, 152286876-152286885, 152287003-152287004
48PKLR10.9971014492753651725155269940, 155269991-155269993, 155270002
49NTRK110.99539941447093112391156830729, 156830732-156830735, 156830846-156830851
50NDUFS210.9683908045977441392161172268-161172270, 161176214-161176221, 161176261-161176273, 161176314-161176327, 161179045-161179048, 161179316-161179317
51F510.98531835205993986675169500078, 169510269-169510275, 169510377-169510383, 169510497-169510542, 169510647-169510653, 169511555, 169511596-169511624
52MYOC10.998019801980231515171621477-171621479
53DARS210.998452012383931938173794392, 173794395, 173795895
54HMCN110.994558788739069216908185878469-185878494, 185878502-185878526, 185878611, 185880834, 186014844, 186014848, 186017913-186017914, 186017929, 186039815-186039822, 186039850, 186039854-186039856, 186039861, 186039864-186039867, 186045692-186045699, 186047291-186047292, 186050413, 186050449, 186052075-186052076, 186056659, 186062759, 186105809
55CFH10.95860389610391533696196706047-196706054, 196706089-196706092, 196706734-196706741, 196709763-196709764, 196709791-196709802, 196709827-196709858, 196709893-196709894, 196711067-196711072, 196712582-196712589, 196712671-196712677, 196712739, 196714947-196714957, 196715002, 196716316-196716359, 196716389-196716395
56CFHR110.9365558912386763993196797235-196797247, 196797354-196797360, 196801039-196801081
57ASPM10.995783017059614410434197055984, 197056016-197056023, 197059188-197059214, 197059486-197059487, 197062233, 197062272, 197069729, 197070134, 197070684, 197070697
58CACNA1S10.99662041977944195622201018192, 201029936-201029942, 201030415-201030421, 201052437-201052440
59REN10.99918099918111221204135381
60USH2A10.9566275866487367715609215807842, 215914742, 215914803-215914807, 215914840-215914875, 215916535-215916599, 215916607-215916655, 215916666, 215916670-215916677, 215931937-215931938, 215932022-215932057, 215933008-215933009, 215933038, 215933074, 215933113, 215933117, 215933133, 215933160-215933164, 215953209, 215953212, 215955483-215955490, 215955533, 215956150, 215960013, 215960168, 215990339-215990365, 215990391-215990404, 215990407-215990408, 215990415-215990420, 215990453-215990454, 215990461, 215990464, 215990485-215990520, 216011440-216011445, 216017660, 216017708-216017738, 216017762-216017763, 216017766-216017772, 216017794, 216019166-216019173, 216019298-216019340, 216380665-216380701, 216380729, 216390844, 216591856, 216591881-216591892, 216591901, 216591923-216591987, 216592003, 216592010-216592021, 216595240, 216595245, 216595251-216595254, 216595333-216595348, 216595377, 216595395-216595422, 216595428-216595433, 216595453-216595474, 216595530-216595563, 216595588, 216595596-216595601, 216595671-216595678
61ADCK310.97376543209877511944227152800, 227152817, 227152898, 227152905, 227152922, 227153104, 227153415, 227169769-227169771, 227169777, 227169796-227169798, 227169829, 227170667, 227171917-227171936, 227172249-227172257, 227174394, 227174420-227174421, 227174435-227174437
62GJC210.9992424242424211320228346378
63AGT10.9945130315500781458230846485-230846492
64LYST10.99973698053656311406235840842, 235856773, 235875459
65MTR10.99657714586625133798236972008, 237015893-237015895, 237023143, 237023156, 237024425, 237024484, 237024500, 237024514, 237060942-237060944
66RYR210.9884594739667217214904237780718-237780721, 237787167, 237789035-237789046, 237791118-237791147, 237791210, 237791246-237791248, 237791277-237791288, 237791333, 237794786, 237796906, 237796912-237796930, 237796972-237796994, 237801732, 237801736, 237801741-237801774, 237804215, 237806627-237806635, 237905596-237905612, 237921049
67NET1100.972640982691234917915454701-5454718, 5454774, 5454779-5454781, 5497041-5497067
68OPTN100.999423298731261173413174190
69CUBN100.9993561442236971087216893394-16893400
70PTF1A100.950354609929084998723481525-23481528, 23481673, 23481716-23481717, 23481763-23481783, 23481941-23481960, 23482182
71MYO3A100.999793856936711485126500883
72RET100.9883408071748939334543572724-43572761, 43606857
73ERCC6100.998661311914326448250691419-50691422, 50691479, 50708680
74CHAT100.9305740987984156224750822236-50822280, 50822310-50822311, 50822327-50822422, 50822466, 50833652, 50835718, 50835730, 50835777-50835785
75PCDH15100.998981151299036588955782809-55782811, 55782820, 55996691, 56138671
76EGR2100.9909154437456313143164573026, 64573471-64573479, 64573487-64573489
77CDH23100.9999005568814611005673464799
78LDB3100.99816849816854218488428492, 88476185, 88476399, 88492689
79BMPR1A100.9656035021888755159988683133-88683149, 88683402-88683439
80GLUD1100.9791293977340535167788836362-88836368, 88854087, 88854333, 88854347-88854352, 88854355-88854364, 88854416-88854420, 88854451-88854455
81PTEN100.995874587458755121289720651-89720652, 89725227-89725229
82PDE6C100.999611951882031257795372734
83HPS1100.98622981956315292106100177367, 100177378-100177388, 100186983-100186998, 100189606
84COX15100.9967558799675641233101478149-101478150, 101478155-101478156
85CPN1100.9985475671750221377101802200, 101814162
86CYP17A1100.9986902423051721527104592333, 104592352
87BAG3100.99247685185185131728121436179-121436191
88HTRA1100.94871794871795741443124221169, 124221179-124221230, 124221245-124221264, 124221446
89UROS100.997493734335842798127477440, 127477445
90HRAS110.8701754385964974570532638-532662, 532753, 533603-533604, 533766-533767, 533800, 533860-533895, 533932, 533935-533938, 533944, 534242
91TALDO1110.98717948717949131014747490-747497, 747546, 747554-747557
92SLC25A22110.992798353909477972792691-792693, 792870-792873
93PNPLA2110.922112211221121181515819719-819757, 819797-819834, 819867-819890, 824001-824013, 824017-824020
94CTSD110.6093623890234148412391774749-1774756, 1774760, 1774806, 1774809, 1774831-1774867, 1774899, 1775033, 1775078-1775107, 1775116-1775131, 1775234-1775272, 1775288, 1775318-1775368, 1776150, 1778561-1778575, 1778617, 1778645-1778668, 1778722, 1778729-1778730, 1778759-1778786, 1780199-1780214, 1780229, 1780244-1780267, 1780299-1780317, 1780761-1780769, 1780774-1780780, 1780792-1780803, 1780808, 1780811, 1780826-1780869, 1782578, 1782629, 1782634-1782638, 1782641-1782645, 1782649-1782654, 1782660, 1782693-1782696, 1785022-1785089
95TNNI2110.84699453551913845491861464-1861468, 1861651-1861674, 1861774-1861784, 1861835-1861878
96TNNT3110.92921492921493557771954955, 1955186, 1955189, 1955210-1955238, 1955632-1955642, 1955667-1955675, 1955839, 1958203, 1959676
97H19110.860877684407114910712017539-2017542, 2017549-2017571, 2017627, 2017633, 2017642, 2017752-2017754, 2017757-2017758, 2017762-2017767, 2017790-2017827, 2017892-2017893, 2017983-2018020, 2018090, 2018119-2018143, 2018165-2018168
98IGF2110.86779184247539947112154221-2154247, 2154251, 2154258, 2154261, 2154303, 2154306, 2154349-2154385, 2154747-2154753, 2154887-2154895, 2161398-2161401, 2161404, 2161454, 2161502, 2161505, 2161508
99TH110.027936507936508153115752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189409, 2189721-2189873, 2189880-2189895, 2190880-2191101, 2191920-2192000, 2192927, 2192940, 2192955-2193004
100KCNQ1110.8596750369276228520312466329-2466370, 2466378-2466404, 2466425-2466458, 2466469, 2466480, 2466483, 2466496-2466568, 2466579-2466646, 2466657, 2466703-2466705, 2592555-2592577, 2869100-2869110
101CDKN1C110.423764458464775489512905247, 2905900-2905904, 2905925-2905977, 2905986-2906263, 2906279-2906325, 2906331-2906422, 2906448-2906455, 2906485-2906509, 2906513-2906529, 2906533-2906541, 2906553-2906565
102HBD110.9842342342342374445255652-5255658
103SMPD1110.99947257383966118966411935
104ABCC8110.996839443742115474617464327-17464338, 17498268, 17498271, 17498323
105USH1C110.999629629629631270017565848
106HPS5110.82182890855457604339018303765, 18306946-18306968, 18308169-18308171, 18308256-18308257, 18309128-18309208, 18309440, 18309535, 18312996-18313002, 18313081, 18313162-18313208, 18313249-18313257, 18313298-18313324, 18313348-18313409, 18313431-18313437, 18313485-18313492, 18313530-18313536, 18314459-18314467, 18316567-18316579, 18316628-18316634, 18317546-18317566, 18317576, 18317607, 18317634, 18317667, 18318345-18318361, 18318384-18318426, 18318469-18318531, 18319106-18319143, 18319199-18319203, 18320339-18320344, 18320357-18320377, 18320432-18320438, 18320460-18320517, 18322379, 18327002, 18332954-18332956
107CSRP3110.98632478632479858519206532-19206537, 19206548, 19206551
108WT1110.9768339768339836155432417806-32417807, 32417921, 32456618-32456621, 32456628-32456629, 32456653-32456664, 32456669, 32456681-32456685, 32456715, 32456731-32456732, 32456864-32456869
109ALX4110.9708737864077736123644286404-44286420, 44286469-44286475, 44286612, 44289078-44289088
110PEX16110.9827089337175818104145931652, 45932478, 45932490, 45935947, 45935956-45935958, 45935991, 45937344-45937347, 45939270, 45939290-45939293, 45939326
111F2110.93204922418406127186946742096, 46742360-46742361, 46747455-46747487, 46747501-46747523, 46747609-46747625, 46748087-46748098, 46748105, 46748108, 46748115, 46748167, 46748171, 46748283-46748289, 46748324, 46748340, 46749582-46749588, 46749595, 46749665, 46750335-46750340, 46750349-46750350, 46750379-46750380, 46751052-46751054, 46751063, 46751104, 46751107
112MADD110.999797734627831494447333374
113MYBPC3110.81542483660131706382547353682, 47353721, 47353724, 47354211, 47354250-47354253, 47354761, 47354764, 47355190-47355192, 47357491, 47358999, 47359007, 47360088, 47360091, 47361314, 47362726-47362727, 47362730, 47363655-47363658, 47364230-47364250, 47364597-47364610, 47364670-47364671, 47365045-47365068, 47365097, 47365148-47365149, 47365162-47365173, 47367758-47367764, 47367794-47367813, 47367832-47367906, 47368178-47368195, 47368973-47368974, 47368976-47368997, 47369023-47369030, 47369205-47369210, 47369413-47369431, 47369441-47369456, 47369975-47369988, 47370008-47370009, 47370025-47370073, 47371326-47371331, 47371336-47371338, 47371371-47371373, 47371378-47371381, 47371419, 47371437, 47371455-47371457, 47371460, 47371463-47371473, 47371586-47371599, 47371606-47371611, 47372053-47372062, 47372076-47372157, 47372790-47372883, 47372892-47372924, 47372940-47372970, 47372993-47372994, 47372999, 47373038-47373056, 47374177-47374197
114RAPSN110.9733656174334133123947459526-47459532, 47459587, 47460439-47460441, 47469595-47469601, 47469656, 47470344, 47470429, 47470446, 47470465-47470469, 47470476-47470478, 47470482-47470484
115NDUFS3110.8628930817610110979547600821, 47600857, 47602101, 47602154-47602163, 47602387-47602399, 47602410-47602412, 47602417-47602419, 47602428, 47602445-47602458, 47602480-47602487, 47602500-47602501, 47602512-47602517, 47602523-47602525, 47602531-47602533, 47603723-47603737, 47603929-47603946, 47603982-47603983, 47603997-47604001
116BEST1110.996018202502847175861723228-61723234
117BSCL2110.9496040316774770138962469992, 62470010, 62472790, 62472916-62472956, 62472962-62472983, 62473047-62473048, 62474654, 62474666
118SLC22A12110.73225030084236445166264359066-64359087, 64359106, 64359110-64359111, 64359131, 64359143-64359147, 64359157-64359169, 64359191-64359213, 64359224, 64359259-64359265, 64359298-64359300, 64359319-64359320, 64359336, 64359347-64359358, 64359406-64359410, 64360271-64360274, 64360877-64360889, 64360918-64360955, 64360980, 64360992-64360993, 64361029, 64361121-64361166, 64361208, 64361239, 64361253-64361258, 64361269-64361271, 64366287-64366313, 64367148-64367346, 64367864, 64367868, 64367939, 64368253, 64368270
119EFEMP2110.994744744744747133265635478, 65635766, 65635871, 65639822-65639825
120BBS1110.999438832772171178266297363
121SPTBN2110.99930294158655717366468252, 66468752-66468753, 66475123, 66475133
122CABP4110.985507246376811282867222911, 67222915, 67223077, 67223209, 67223847-67223851, 67225924, 67225979, 67225984
123AIP110.2708962739174272499367250670-67250671, 67250707, 67254477-67254493, 67254495-67254497, 67254502, 67254519-67254552, 67254607-67254622, 67254644-67254656, 67256738-67256805, 67256812-67256868, 67256880, 67256887-67256926, 67257509-67257685, 67257787-67257823, 67257833-67257928, 67258259-67258306, 67258320-67258427, 67258460-67258464
124NDUFV1110.998566308243732139567376042, 67376045
125NDUFS8110.981042654028441263367800450, 67803948, 67804014-67804023
126TCIRG1110.9041315683915239249367810110-67810122, 67810125, 67810138, 67810210-67810215, 67810227, 67810245, 67810248, 67810257-67810296, 67810470-67810480, 67810485, 67810492, 67810892-67810893, 67810929-67810932, 67810947-67810948, 67811302, 67811307-67811334, 67811342-67811364, 67811602, 67811637-67811682, 67814979, 67815362-67815365, 67816569-67816574, 67817162-67817192, 67817203-67817206, 67817486, 67817628-67817631, 67817685-67817686, 67818211, 67818218
127LRP5110.96472772277228171484868080183-68080270, 68131244, 68131291, 68131388, 68170989-68170992, 68171021-68171022, 68177385, 68201264, 68205918, 68207346, 68207357, 68207360-68207363, 68207374, 68216350-68216377, 68216428, 68216444-68216449, 68216497, 68216506-68216533
128CPT1A110.9784668389319650232268552296, 68552342-68552390
129IGHMBP2110.96244131455399112298268671477-68671479, 68696699, 68700774, 68702778, 68702867-68702868, 68703759-68703762, 68703959-68703981, 68703986, 68703990, 68703993-68704005, 68704069-68704097, 68704340-68704344, 68704414, 68704434-68704437, 68704496-68704517, 68705812
130LRTOMT110.99429223744292587671819719, 71819803-71819806
131MYO7A110.745336943441641693664876858849-76858855, 76877161-76877167, 76883851-76883883, 76883925-76883931, 76885820, 76885823, 76885847-76885869, 76885877-76885897, 76885908-76885945, 76886418-76886489, 76886509-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893085, 76893104-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895676, 76895712-76895729, 76895755-76895760, 76900389-76900422, 76900434, 76900441, 76900451-76900468, 76900505-76900515, 76901065-76901079, 76901137-76901153, 76901174-76901184, 76901742-76901785, 76901809, 76901849-76901864, 76903214-76903225, 76903231, 76903273-76903323, 76909541, 76909595-76909601, 76909652, 76910863
132TYR110.9861635220125822159088961048, 88961056, 88961083-88961102
133TRPC6110.953505007153081302796101353718-101353754, 101353797-101353807, 101353810-101353812, 101353819, 101353860-101353883, 101359668-101359707, 101359724, 101359750, 101359753, 101359756, 101359764-101359773
134DYNC2H1110.9731942835071534712945102980389-102980400, 102980403, 102984266-102984279, 102984331-102984333, 102984378, 102984403-102984429, 102984836-102984839, 102984877-102984882, 102984900, 102984927, 102985931, 102985991-102986017, 102987299-102987305, 102987322-102987336, 102987384-102987389, 102987412-102987422, 102987440, 102991176-102991178, 102991197, 102991206-102991221, 102991231-102991232, 102991243, 102991291-102991305, 102991309, 102991418-102991420, 102991449-102991489, 102991518-102991531, 102991654-102991655, 102991679, 102991688-102991689, 103049842, 103173913, 103173950-103173982, 103182703-103182713, 103182718-103182728, 103187294, 103187300-103187308, 103191787-103191788, 103191849, 103191853, 103191867, 103191870-103191879, 103191886-103191895, 103191928-103191931, 103191957-103191966, 103194614
135ACAT1110.98909657320872141284108004584-108004597
136ATM110.9991276850943289171108204644-108204650, 108214008
137RDX110.9988584474885821752110106855, 110126067
138ALG9110.9967320261437961836111657129-111657132, 111657185, 111742118
139CRYAB110.998106060606061528111779602
140SDHD110.989583333333335480111959677-111959680, 111965562
141FXYD2110.933789954337929438117693056, 117693131, 117693164, 117693185-117693208, 117693219, 117693343
142HMBS110.9935543278084771086118960736, 118962168-118962173
143SC5DL110.997777777777782900121175198, 121178170
144ACAD8110.92067307692308991248134123552, 134128912, 134129525-134129527, 134129533, 134130985, 134131635, 134131681-134131715, 134131725-134131731, 134132481-134132516, 134134811-134134817, 134134830-134134835
145WNK1120.99090781927542657149862887-862899, 862989-862995, 863192-863201, 987495, 994395-994402, 994506, 994799-994816, 996420-996426
146CACNA2D4120.99853544229643534141906621-1906622, 1909560, 1909567, 1993949
147CACNA1C120.9783569577808314265612676748-2676750, 2676753-2676756, 2676759, 2676804-2676809, 2676832-2676853, 2676864-2676886, 2676894, 2676920-2676953, 2690841, 2690844-2690847, 2705119, 2716275, 2717677, 2717683-2717685, 2717690-2717694, 2794937, 2794977, 2795364-2795370, 2800295-2800311, 2800349-2800354
148KCNA1120.99932795698925114885021228
149VWF120.9737029140014222284426058181-6058202, 6058265, 6058268, 6058295-6058323, 6058959-6058970, 6059012, 6059028, 6059040-6059049, 6061024, 6077321-6077327, 6085282-6085306, 6085321-6085336, 6085347-6085348, 6085407-6085426, 6131926-6131932, 6132003-6132033, 6173433, 6230344-6230369, 6230403-6230410, 6230438
150TPI1120.98897506976731-6976732, 6979461-6979467
151ATN1120.99860061572908535737045892-7045894, 7045897, 7050156
152ABCC9120.9610752688172181465022005304, 22015903-22015930, 22063245-22063246, 22068611-22068639, 22068655-22068678, 22068747-22068748, 22068800, 22068831, 22069877, 22069880-22069885, 22069899, 22069961, 22069967, 22078876-22078935, 22078944, 22078970-22078972, 22078982, 22078985-22078986, 22089556-22089571
153BCAT1120.9819121447028421116124995034-24995054
154DNM1L120.998643147896883221132866245, 32866300, 32866303
155KIF21A120.97312474929803134498639701485, 39701488-39701501, 39701505, 39701519-39701520, 39703434-39703482, 39705255-39705273, 39705277, 39705283, 39705289, 39705300, 39705303, 39705315-39705323, 39705331, 39705335, 39709742-39709756, 39711882, 39711906-39711913, 39713740, 39730950-39730956
156LRRK2120.9872099156118197758440716257-40716263, 40745436-40745450, 40757204-40757206, 40757259, 40757266-40757269, 40757280, 40758652, 40758667, 40758685, 40758691, 40758808-40758810, 40758817, 40760808-40760825, 40760849-40760854, 40760870, 40761446-40761459, 40761486-40761487, 40761505-40761506, 40761518-40761526, 40761532-40761536, 40761548
157IRAK4120.999276934201011138344166716
158VDR120.996105919003125128448258957, 48272761-48272762, 48272796, 48272892
159TUBA1A120.940789473684212745649522269, 49522287, 49522386, 49522411, 49522441-49522460, 49522544, 49522585, 49522624
160KRT81120.9934123847167310151852681056, 52681416, 52681437, 52682999-52683005
161KRT86120.9760438056125935146152696884-52696915, 52697952, 52699548, 52699861
162KRT6B120.9917404129793514169552845571-52845577, 52845798-52845804
163KRT6C120.9651917404129859169552867091-52867135, 52867230-52867236, 52867457-52867463
164KRT6A120.9439528023598895169552885482-52885512, 52886475-52886493, 52886553-52886559, 52886681-52886687, 52886823-52886829, 52886858-52886873, 52886907-52886914
165KRT5120.997179921037795177352908899-52908902, 52912768
166KRT2120.9770833333333344192053038896, 53039339, 53040524, 53040605-53040607, 53040610, 53041957, 53042835-53042840, 53042876-53042882, 53043698-53043707, 53043741, 53044306-53044315, 53045824-53045825
167SUOX120.9975579975584163856397946-56397947, 56398176-56398177
168TSFM120.99488752556237597858176591-58176595
169GNS120.999397227245331165965152955
170LEMD3120.9915935672514623273665632505, 65639539-65639552, 65639648, 65639665, 65639713, 65640029, 65640048, 65640054-65640055, 65640061
171BBS10120.999539594843461217276740217
172CEP290120.9932795698924750744088443044-88443093
173HAL120.9630192502532973197496370232, 96370271-96370274, 96370409-96370448, 96371826, 96374335-96374354, 96384196-96384202
174SLC17A8120.9994350282485911770100774585
175GNPTAB120.9997348183505713771102163913
176MMAB120.996015936254983753109994877, 109999279-109999280
177MVK120.99076406381192111191110034241-110034251
178ATXN2120.859208523592095553942112036601-112036682, 112036689-112036820, 112036831, 112036880, 112036890-112036939, 112036952-112037157, 112037199-112037235, 112037256-112037301
179PTPN11120.9949494949494991782112891185-112891186, 112893805-112893810, 112942546
180TBX3120.97132616487455642232115109682, 115109877-115109881, 115109884-115109932, 115109970, 115112065-115112068, 115112238, 115115411, 115115423, 115120788
181HNF1A120.9789029535865401896121434095-121434098, 121434196, 121434347-121434359, 121434477-121434478, 121437074, 121437129-121437135, 121437336, 121437374, 121437382, 121437397, 121437412, 121438963-121438969
182HPD120.93231810490694801182122286959-122286982, 122287593-122287594, 122292675, 122294302-122294303, 122294309, 122294312, 122294492-122294498, 122294508-122294531, 122295270-122295283, 122295299, 122296727-122296729
183ATP6V0A2120.9996110462854912571124197135
184SACS130.9997816593886531374023911352, 23911987, 23949267
185B3GALTL130.997995991983973149731774226, 31774259-31774260
186SPG20130.997501249375315200136905640, 36905648, 36909664, 36909931, 36909943
187FREM2130.999684542586753951039262057-39262059
188TNFSF11130.98113207547171895443148473, 43148565, 43155262, 43155315, 43155356, 43155362, 43155372-43155382, 43155395
189SUCLA2130.993534482758629139248528382-48528384, 48547465-48547467, 48547525-48547527
190RB1130.997488338715467278749039182-49039188
191ATP7B130.999545247839932439852523878, 52523885
192EDNRB130.996990218209184132978492415-78492418
193GPC6130.9808153477218232166893879721-93879746, 94482688-94482693
194ZIC2130.94183864915572931599100634398-100634405, 100634408, 100634532-100634541, 100634585, 100634591-100634600, 100635008-100635010, 100637646, 100637730-100637732, 100637738-100637746, 100637755, 100637767-100637776, 100637790-100637791, 100637805-100637812, 100637820-100637825, 100637829-100637831, 100637834-100637847, 100637850-100637852
195PCCA130.98856881572931252187101101506-101101519, 101101538-101101548
196COL4A1130.999800399201615010110959363
197F7130.278651685393269631335113760156-113760199, 113760218-113760219, 113765005-113765026, 113765037-113765040, 113765055, 113765060, 113765073-113765128, 113765158-113765164, 113768074-113768090, 113768218-113768241, 113768254, 113768264-113768274, 113769974-113770041, 113770051-113770114, 113771080-113771090, 113771112-113771113, 113771151, 113771154-113771177, 113771787-113771788, 113771811-113771883, 113772727-113772990, 113773011-113773055, 113773065-113773066, 113773086-113773193, 113773209-113773312, 113773318-113773322
198F10130.858895705521472071467113777174-113777188, 113777191, 113777196-113777198, 113777204-113777208, 113777214-113777239, 113795361-113795362, 113798208-113798241, 113798268, 113798286, 113798324-113798359, 113798386-113798409, 113801702-113801710, 113801737, 113801744-113801745, 113803263-113803264, 113803269, 113803305, 113803359-113803364, 113803393, 113803564, 113803575-113803576, 113803608-113803615, 113803621, 113803627, 113803631, 113803682, 113803685, 113803697-113803698, 113803708, 113803730-113803739, 113803825-113803831
199GRK1130.871749408983452171692114321745, 114321770, 114321798-114321834, 114321843-114321853, 114321926-114321927, 114321930-114321931, 114321959, 114322060-114322090, 114322118-114322153, 114322210-114322213, 114322224, 114322227-114322228, 114322384, 114325869-114325906, 114325927-114325942, 114325949-114325956, 114325970-114325971, 114426047-114426055, 114426081-114426083, 114426087-114426089, 114426097-114426098, 114426117, 114426121, 114426125-114426128
200TEP1140.9984779299847812788420841279, 20851765-20851772, 20851775-20851777
201RPGRIP1140.96348096348096141386121756136, 21756197-21756220, 21762855-21762859, 21762870-21762872, 21769150-21769151, 21769166, 21769292, 21769354, 21769368-21769396, 21770701, 21770705-21770707, 21770730, 21771521, 21771524, 21771692, 21775966, 21775983, 21775994-21775995, 21792811, 21793026, 21793191-21793194, 21794119-21794127, 21794320, 21795794-21795796, 21795910-21795920, 21796749, 21796777, 21796784, 21819316-21819344
202PABPN1140.99674267100977392123790681-23790683
203MYH6140.9867697594501777582023852521-23852529, 23854136, 23854168-23854173, 23854250, 23855142-23855143, 23855146, 23855320, 23857393-23857413, 23858182-23858184, 23858191-23858193, 23858199-23858200, 23858206-23858208, 23858232, 23858235-23858236, 23859449-23859456, 23861841-23861843, 23862929-23862930, 23863314, 23863511, 23868126-23868127, 23869525, 23871674-23871676
204MYH7140.999655647382922580823888401-23888402
205NRL140.99579831932773371424550555-24550557
206FOXG1140.90408163265306141147029236624-29236626, 29236647, 29236700, 29236748-29236755, 29236766-29236771, 29236774-29236812, 29236818-29236850, 29236875-29236900, 29236903, 29236933-29236955
207COCH140.9842710223835526165331344286, 31344292, 31344295, 31348062, 31348661, 31349702, 31353843, 31353858-31353859, 31355259-31355260, 31355272, 31355325, 31355328-31355330, 31355446, 31355504-31355505, 31358822-31358828
208FANCM140.9925166748007246614745665375-45665394, 45665458-45665463, 45665722-45665735, 45667857-45667861, 45669191
209MGAT2140.9851190476190520134450088111-50088120, 50088125-50088127, 50088451-50088456, 50089002
210C14orf104140.998806682577573251450092471, 50094779, 50101092
211L2HGDH140.9734195402298937139250713779-50713780, 50713785-50713791, 50713835-50713853, 50713901-50713905, 50713911-50713913, 50713941
212ATL1140.98555956678724166251054571, 51054689-51054690, 51054695-51054698, 51054740-51054754, 51062318, 51094988
213PYGL140.9956761006289311254451376771-51376777, 51381428-51381430, 51390791
214OTX2140.8814317673378110689457268493, 57268528, 57268606-57268615, 57268811-57268831, 57268852-57268861, 57268890-57268891, 57268977, 57268987, 57269020-57269023, 57270917-57270918, 57270956-57270982, 57271063-57271071, 57272078-57272094
215SYNE2140.988901756417682302072464443281, 64496700, 64496703, 64497734, 64497902-64497903, 64497915, 64497926, 64497930, 64498005, 64498059, 64514843-64514848, 64516406-64516447, 64518480-64518490, 64518524-64518525, 64518531-64518532, 64518598-64518601, 64518826, 64518962-64518973, 64529479-64529486, 64529515-64529548, 64532198-64532199, 64532204, 64532207, 64532292-64532302, 64537489-64537536, 64547304-64547309, 64554412, 64556377-64556389, 64556393-64556394, 64580254, 64685220-64685230
216ZFYVE26140.9955380577427834762068241750-68241755, 68241758, 68242692-68242697, 68271943-68271944, 68274151, 68274295, 68274551, 68275917, 68275996-68276001, 68282487-68282494, 68282547
217VSX2140.993554327808477108674706327-74706332, 74706470
218EIF2B2140.9649621212121237105675471567-75471603
219MLH3140.9853278312700664436275483812-75483814, 75485669-75485675, 75500172-75500179, 75505043-75505057, 75506666-75506682, 75506689, 75506706-75506718
220TGFB3140.994350282485887123976446992-76446998
221VIPAR140.997975708502023148277917610, 77917649, 77919682
222TSHR140.999128540305012229581562998, 81610583
223GALC140.9941690962099112205888434804-88434806, 88454866-88454867, 88459375-88459381
224SPATA7140.997222222222225180088852166, 88892895, 88893046-88893047, 88895716
225ATXN3140.993554327808477108692537344, 92537355-92537360
226AMN140.348017621145378881362103389035-103389046, 103390059, 103390098-103390099, 103390103, 103390166, 103394763-103394808, 103394844-103394850, 103395099, 103395156-103395168, 103395194, 103395205-103395207, 103395212-103395215, 103395233-103395312, 103395458-103395483, 103395499-103395595, 103395765-103395812, 103395842-103395873, 103395995-103396012, 103396019-103396022, 103396037-103396043, 103396057, 103396071-103396074, 103396261-103396332, 103396348-103396423, 103396502-103396664, 103396743-103396786, 103396792-103396830, 103396913-103396932, 103396945-103396958, 103396967-103397017
227INF2140.3581333333333324073750105167703-105167717, 105167726, 105167764-105167777, 105167794, 105167811-105167813, 105167821-105167833, 105167858-105167904, 105167924-105167972, 105167978-105167981, 105168044-105168053, 105168069, 105169442-105169472, 105169495-105169523, 105169655-105169790, 105170253-105170281, 105172372-105172398, 105172432-105172434, 105172470, 105172473-105172478, 105172501-105172512, 105173247-105173260, 105173266-105173308, 105173320, 105173345-105173388, 105173590-105173657, 105173676-105173714, 105173720-105173832, 105173844-105174339, 105174773-105174793, 105174802-105174847, 105174853-105174859, 105174869-105174906, 105174923-105174924, 105175019-105175034, 105175042-105175046, 105175049-105175050, 105175054-105175055, 105175060-105175069, 105175618-105175626, 105175635-105175650, 105175673-105175677, 105175683-105175693, 105175707, 105175957-105175959, 105175970-105175977, 105176008-105176042, 105176429, 105176433, 105176437-105176440, 105176488-105176525, 105177274-105177283, 105177310-105177344, 105177416-105177438, 105177444-105177523, 105177966-105177979, 105177999-105178018, 105178024-105178036, 105178770-105178781, 105178793-105178797, 105178820-105178821, 105178834-105178888, 105179189-105179198, 105179247-105179263, 105179284-105179322, 105179544-105179549, 105179560-105179643, 105179782-105179804, 105179829-105179868, 105179895, 105179918-105179943, 105180540-105180550, 105180553-105180577, 105180597-105180629, 105180663-105180673, 105180706, 105180719-105180729, 105180766-105180814, 105180843-105180869, 105180885-105180934, 105180941, 105180984-105181001, 105181004-105181006, 105181032-105181066, 105181076-105181086, 105181093-105181115, 105181160, 105181185-105181186, 105181622-105181670
228NIPA1150.8202020202020217899023086234-23086411
229UBE3A150.9726027397260372262825615777-25615783, 25616038-25616044, 25616171-25616177, 25616250-25616257, 25616391-25616397, 25616620-25616626, 25616812-25616840
230TRPM1150.999792186201161481231294994
231CHST14150.99469496021226113140763501-40763503, 40763517, 40763529-40763530
232TTBK2150.997858099062928373543103946-43103953
233STRC150.9859234234234275532843906394-43906427, 43910863-43910903
234SPG11150.9920894708128858733244900672-44900678, 44912438-44912445, 44912478-44912485, 44914048-44914062, 44914130, 44914515-44914524, 44914534, 44925738-44925745
235DUOX2150.9944049924682626464745399052, 45401097-45401099, 45403441-45403462
236GATM150.999213836477991127245670619
237TPM1150.955555555555563885563335056-63335091, 63335107, 63335982
238SPG21150.965480043149953292765257670-65257701
239CLN6150.99893162393162193668500485
240HCN4150.96373200442968131361273614877-73614917, 73615049, 73615056, 73615212-73615231, 73615254-73615259, 73615265, 73615322, 73615325, 73615538-73615545, 73615608-73615611, 73615699, 73615742, 73616142, 73616161-73616163, 73616167, 73616462, 73660237-73660239, 73660389-73660391, 73660429-73660461
241ETFA150.998003992015972100276523732, 76523739
242PSTPIP1150.48201438848921648125177310489-77310511, 77310571, 77310586, 77310840-77310872, 77320235-77320240, 77320950, 77320958-77320980, 77321910, 77322858-77322905, 77322922, 77323541, 77323549-77323552, 77323597-77323616, 77324639-77324661, 77324673-77324735, 77325208-77325284, 77327849-77327904, 77328143-77328276, 77329386-77329517
243FAH150.88888888888889140126080445416-80445419, 80445423-80445432, 80450484-80450496, 80452766, 80454588-80454592, 80454633-80454634, 80460618, 80467358, 80467375-80467376, 80467387, 80467418-80467433, 80472474-80472484, 80472487-80472488, 80473417-80473440, 80473452-80473487, 80478472-80478482
244POLG150.99892473118284372089871714, 89876828-89876830
245MESP2150.9430485762144168119490320116-90320176, 90320182-90320188
246BLM150.9971791255289112425491337397, 91354600-91354610
247IGF1R150.99902534113064410499440033, 99440129-99440130, 99451934
248HBZ160.72727272727273117429202955-202959, 202978, 203959-203998, 204030-204058, 204095, 204271-204309, 204367-204368
249HBA2160.904428904428941429222961-223001
250GNPTG160.89324618736383989181401967-1401975, 1401987-1402018, 1402136, 1402143-1402145, 1402240-1402253, 1402280, 1402290-1402307, 1411792, 1412039-1412041, 1412208-1412214, 1412267-1412275
251CLCN7160.8660049627791632424181496650-1496669, 1497017-1497053, 1497067-1497072, 1497393-1497397, 1497428-1497458, 1497465-1497497, 1497656-1497687, 1497699, 1497706-1497715, 1498744-1498747, 1498999, 1499010, 1499017, 1499022, 1499031, 1499034, 1499056-1499058, 1499079-1499081, 1499084-1499091, 1500511-1500514, 1500572, 1500597-1500615, 1500649-1500667, 1501635, 1502894, 1505138-1505147, 1505236-1505245, 1506140, 1509108-1509132, 1524850, 1524888-1524920
252IGFALS160.5465838509316887619321840601-1840690, 1840712-1840723, 1840733-1840749, 1840764-1840771, 1840822, 1840855-1840862, 1840874-1840975, 1841002-1841004, 1841010-1841012, 1841035-1841081, 1841101, 1841115, 1841132-1841164, 1841219-1841241, 1841267-1841317, 1841389, 1841451, 1841461, 1841464-1841471, 1841500-1841509, 1841518, 1841554-1841597, 1841605-1841606, 1841617-1841638, 1841664-1841698, 1841716-1841722, 1841816-1841839, 1841842-1841846, 1841849, 1841868-1841936, 1841967-1841990, 1842016-1842021, 1842063-1842066, 1842069-1842070, 1842073, 1842078, 1842099-1842115, 1842131-1842172, 1842195-1842198, 1842209, 1842221-1842280, 1842314-1842316, 1842324-1842329, 1842335-1842342, 1842349, 1842373-1842374, 1842404, 1842415, 1842428-1842475, 1842491, 1842505, 1842509-1842513, 1843638-1843643
253GFER160.407766990291263666182034220-2034226, 2034230-2034231, 2034234-2034253, 2034285-2034477, 2034748-2034763, 2034771-2034779, 2034789-2034826, 2034835, 2034860-2034899, 2034910, 2034926-2034944, 2035873, 2035924, 2035932-2035948, 2035951
254TSC2160.34531710914454355154242098648-2098671, 2098677-2098754, 2100459, 2100486-2100487, 2103343-2103347, 2103387-2103390, 2103393-2103394, 2103427-2103434, 2106221-2106233, 2108748-2108768, 2108794-2108796, 2108809, 2110681-2110689, 2110710-2110729, 2110771-2110804, 2110814, 2111872, 2111876, 2111942-2111985, 2112498-2112505, 2112519, 2112525, 2112553, 2112574, 2112584-2112587, 2112975-2113001, 2113016-2113029, 2114300, 2114313, 2114327-2114331, 2114376-2114428, 2115520-2115528, 2115570-2115580, 2115582-2115583, 2115591-2115603, 2115606-2115636, 2120457-2120470, 2120477-2120535, 2120574-2120579, 2121511-2121565, 2121616-2121617, 2121787-2121917, 2121933-2121935, 2122245-2122247, 2122250, 2122272-2122273, 2122279-2122281, 2122288-2122290, 2122308-2122319, 2122329, 2122340-2122364, 2122850-2122890, 2122902-2122984, 2124201-2124259, 2124265-2124390, 2125808-2125817, 2125834-2125882, 2126069-2126079, 2126093-2126116, 2126136-2126171, 2126492-2126499, 2126560-2126571, 2126575-2126581, 2127606, 2127638-2127653, 2127659, 2127678-2127681, 2127694-2127727, 2129033-2129052, 2129065-2129095, 2129113, 2129125, 2129178-2129197, 2129277-2129336, 2129342-2129429, 2129558-2129581, 2129604-2129629, 2129641-2129670, 2130166-2130187, 2130196, 2130208-2130251, 2130257-2130378, 2131596-2131780, 2132437-2132505, 2133696-2133795, 2133807-2133817, 2134229-2134468, 2134478-2134716, 2134952-2135027, 2135231-2135318, 2136194-2136380, 2136733-2136812, 2136819-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
255PKD1160.01277881040892212747129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144106, 2144113-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147735, 2147745-2147781, 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, 2158253-2158502, 2158512-2161400, 2161410-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2167839, 2167858-2167988, 2167994-2168090, 2168100-2168463, 2168677-2168756, 2168770, 2168790, 2168793, 2168845-2168846, 2169115-2169181, 2169308-2169379, 2185476-2185545, 2185556-2185690
256ABCA3160.8525904203323675451152326751, 2326760-2326766, 2326789-2326806, 2327605, 2327614-2327624, 2327632-2327643, 2327923-2327964, 2328064-2328070, 2328289-2328313, 2328381-2328409, 2328437-2328459, 2328979-2329009, 2329014, 2329043-2329046, 2331028-2331032, 2331047-2331056, 2331089, 2331114, 2331137, 2331217-2331222, 2331416, 2331430, 2331508, 2333192-2333207, 2333230, 2333233-2333256, 2333293-2333295, 2333333-2333334, 2333343-2333344, 2333348-2333359, 2334280-2334281, 2334289-2334296, 2334328-2334331, 2334334-2334336, 2334338, 2334343, 2334349-2334367, 2334381-2334414, 2334893-2334897, 2334920, 2334955-2334958, 2334961-2334974, 2334980, 2335458-2335469, 2335485, 2335515-2335516, 2335520-2335526, 2335562, 2335566, 2335580-2335583, 2336698, 2336776-2336789, 2336839, 2336914, 2338087-2338089, 2338169-2338194, 2339529, 2339538, 2339580-2339591, 2339597-2339601, 2345591-2345602, 2345670, 2347378-2347380, 2347407, 2347416, 2347421-2347427, 2347473, 2347780-2347781, 2347849-2347856, 2347904, 2348427-2348428, 2348486-2348502, 2348519, 2349452, 2349458-2349478, 2349488, 2350011, 2350015-2350026, 2350030, 2354058, 2354106-2354110, 2358492-2358493, 2358522-2358534, 2358542, 2358547, 2367392-2367398, 2367698, 2367726-2367756, 2369590-2369611, 2369649-2369651, 2369655, 2369659, 2369674-2369720, 2369744, 2369763-2369795, 2373554
257MEFV160.978260869565225123463293414-3293415, 3293527-3293531, 3293868, 3293871, 3297050-3297053, 3297056, 3304675-3304688, 3306341-3306351, 3306358, 3306364, 3306416-3306425
258SLX4160.9803814713896510855053639429, 3639438, 3639451, 3639834-3639836, 3639848-3639849, 3639894-3639905, 3640230, 3640236, 3640319-3640320, 3640738-3640739, 3640946, 3642811-3642812, 3644557, 3644596, 3646160-3646165, 3647464, 3647530, 3647539-3647554, 3647879, 3647888, 3647897-3647899, 3647902, 3647906-3647907, 3647910, 3647960, 3650990-3651020, 3651064, 3652141-3652142, 3652157-3652158, 3652179, 3652244-3652249
259CREBBP160.992495565561475573293777775-3777777, 3778452-3778454, 3778894, 3778897-3778901, 3778907, 3778994, 3778997, 3779112, 3779115, 3779139, 3779147-3779172, 3779452, 3779455-3779457, 3779464, 3779493-3779498
260GLIS2160.26666666666667115515754382282-4382306, 4382336, 4382367-4382382, 4382387-4382389, 4382396-4382413, 4382420-4382453, 4383350-4383364, 4383396-4383397, 4383457-4383474, 4383495-4383520, 4384802-4384804, 4384817-4384856, 4384867-4384908, 4384918-4384967, 4384974-4384978, 4385061, 4385088-4385089, 4385094, 4385108-4385118, 4385128, 4385135-4385176, 4385185, 4385276-4385280, 4385291-4385314, 4385337-4385364, 4385382-4385394, 4386726-4386727, 4386736-4386765, 4386779-4386790, 4386807-4386830, 4386847, 4386852-4386853, 4386856-4386865, 4386872-4386944, 4386952-4387525
261ALG1160.898924731182814113955128014-5128018, 5128835-5128839, 5128848-5128850, 5128857, 5130959-5130999, 5131015-5131057, 5133683, 5134751-5134754, 5134802-5134821, 5134831-5134846, 5134877, 5134881
262ABAT160.964071856287435415038829597-8829617, 8829652, 8841967-8841994, 8844293, 8844377, 8860109-8860110
263MYH11160.999831649831651594015917197
264ABCC6160.86524822695035608451216244032, 16244478-16244484, 16244536-16244548, 16253339-16253351, 16253394-16253396, 16253404-16253426, 16255315-16255323, 16255336-16255380, 16256855-16256868, 16256916-16256926, 16256985-16256996, 16257017, 16257040-16257049, 16259480-16259599, 16259621-16259638, 16259674-16259679, 16259712, 16259722-16259724, 16259751-16259790, 16263520-16263572, 16263578-16263599, 16263625-16263628, 16263632-16263645, 16263666-16263710, 16267141-16267142, 16267158-16267172, 16267186-16267231, 16267249, 16269768-16269770, 16269780, 16271347-16271349, 16271357-16271360, 16271363-16271364, 16271367, 16271374-16271375, 16271409, 16271462-16271479, 16272744, 16276719-16276721, 16302585-16302589, 16313411-16313415, 16315605-16315611
265OTOA160.9903508771929833342021696630-21696631, 21696634, 21698859, 21726437-21726441, 21734260-21734261, 21737960-21737979, 21742179, 21747639
266SCNN1G160.9882051282051323195023221084, 23221093-23221099, 23221161, 23223355, 23224158-23224168, 23226481, 23226509
267COG7160.999135322092522231323464212-23464213
268PALB2160.9868014602639747356123614829, 23614918, 23619199-23619215, 23619268, 23619271-23619278, 23619285, 23619328, 23634421-23634437
269CLN3160.997722095671983131728497673-28497675
270TUFM160.9883040935672516136828857575-28857590
271CD19160.999401555954521167128950276
272PHKG2160.9901719901719912122130760144-30760146, 30760179-30760187
273FUS160.999367488931061158131196377
274PHKB160.999390615478372328247581428, 47722970
275NOD2160.9945565161703517312350744823-50744826, 50745059-50745060, 50745066, 50745249, 50745378, 50745521-50745523, 50745526, 50745863, 50745889, 50745892-50745893
276SALL1160.999748427672961397551172677
277SLC12A3160.85321694148076454309356899194-56899229, 56899256, 56899262, 56899339-56899340, 56900995, 56901092, 56901128, 56904008-56904041, 56904614-56904622, 56906676-56906681, 56911989-56911990, 56912028, 56912036-56912038, 56912051-56912073, 56913000-56913036, 56913070-56913073, 56913077, 56913098-56913100, 56913103-56913107, 56913454-56913456, 56913513-56913516, 56913544-56913551, 56914070-56914093, 56914124-56914127, 56914165, 56916380-56916382, 56919180, 56920276-56920310, 56920376-56920387, 56920865-56920911, 56920940-56920954, 56920977-56921001, 56921838-56921914, 56921921-56921943, 56924237
278COQ9160.99164054336468895757481458-57481459, 57485066, 57486818, 57486822-57486825
279GPR56160.999515503875971206457684220
280CNGB1160.95926517571885153375657984352-57984355, 57992384, 57993799-57993816, 57993851, 57994769-57994788, 57994804-57994810, 57996878-57996881, 57996940-57996963, 58001032-58001069, 58001083-58001096, 58001121-58001132, 58001162-58001170, 58001177
281TK2160.9978354978355292466584005, 66584020
282HSD11B2160.8431855500821191121867465152-67465312, 67465320-67465343, 67465346-67465347, 67465356, 67465364-67465366
283LCAT160.88813303099017148132367973877, 67973945-67973951, 67973970, 67974069-67974110, 67974168, 67974266, 67974313-67974339, 67976404-67976415, 67976436-67976468, 67976781, 67976874, 67976970-67976985, 67976994-67976997, 67977945
284CDH3160.9947791164658613249068725797-68725798, 68725818-68725828
285CDH1160.998112495281245264968867380-68867384
286CIRH1A160.9951479864143610206169184518-69184527
287COG8160.87873844480696223183969364742-69364799, 69364807-69364881, 69364888-69364891, 69364976-69364987, 69366777-69366778, 69368594-69368598, 69373143, 69373158-69373161, 69373206-69373247, 69373266, 69373308-69373325, 69373414
288GCSH160.915708812260544452281129803-81129827, 81129861-81129879
289GAN160.999442586399111179481348760
290MLYCD160.87314439946019188148283932822, 83932825-83932840, 83932875-83932923, 83932973-83933000, 83933021-83933042, 83933091-83933120, 83933231-83933246, 83940621-83940638, 83941857-83941863, 83941867
291LRRC50160.998622589531683217884199444, 84203819, 84205979
292FOXF1160.992982456140358114086544211-86544213, 86544219-86544221, 86544232, 86544921
293FOXC2160.8871181938911170150686600976-86600981, 86601111, 86601344-86601350, 86601401, 86601405-86601406, 86601433-86601443, 86601447, 86601507, 86601512, 86601554, 86601573-86601574, 86601614, 86601657-86601680, 86601778-86601780, 86601788, 86601831-86601834, 86601906, 86601944, 86601968-86602011, 86602027-86602043, 86602096, 86602116, 86602153-86602154, 86602181-86602216
294JPH3160.72140631953716626224787636916, 87677911, 87678085-87678087, 87678131-87678135, 87678291-87678320, 87678483-87678485, 87717756, 87717859-87717872, 87723262-87723395, 87723401-87723428, 87723435-87723470, 87723477-87723495, 87723510-87723522, 87723541-87723567, 87723582-87723621, 87723644-87723664, 87723679-87723698, 87723701, 87723709-87723710, 87723713-87723744, 87723767-87723788, 87723819-87723839, 87723887-87723933, 87723959-87723992, 87724003-87724019, 87724053-87724093, 87724110-87724114, 87724117, 87730216-87730222
295CYBA160.1479591836734750158888709761-88709879, 88709896-88709979, 88712536-88712605, 88713163-88713167, 88713185-88713192, 88713213-88713246, 88713509-88713583, 88714453-88714500, 88717364-88717421
296APRT160.08655616942909849654388876118-88876235, 88876478-88876556, 88876831, 88876834-88876837, 88876853-88876964, 88877958-88878064, 88878228-88878265, 88878271-88878307
297GALNS160.49394518801785794156988880862-88880863, 88880878-88880928, 88884415-88884532, 88888997-88889046, 88889093-88889118, 88891175-88891277, 88893137-88893194, 88893219-88893246, 88898414-88898457, 88898480-88898486, 88898490, 88901651-88901657, 88901709-88901730, 88901737, 88901744-88901760, 88902133-88902162, 88902183, 88902187-88902202, 88902225, 88902664-88902675, 88904057, 88904067, 88904086, 88904135, 88907411-88907412, 88907424-88907426, 88907439-88907466, 88907480, 88908305-88908367, 88909114-88909121, 88909202-88909214, 88909220-88909237, 88923166-88923193, 88923255-88923285
298SPG7160.86557788944724321238889574833-89574835, 89574913, 89574956-89574960, 89574993, 89576898, 89576956-89576957, 89576960, 89576963, 89576977-89577000, 89579368-89579371, 89579374, 89579389-89579428, 89590605, 89592746-89592752, 89592792, 89595885-89595895, 89595942-89595948, 89598347-89598381, 89598427, 89611060, 89613066-89613072, 89614411-89614412, 89614451-89614466, 89614474-89614487, 89614493-89614498, 89616920-89616929, 89616968, 89616998-89616999, 89617005-89617012, 89619389, 89619442, 89619490-89619492, 89619510, 89620268-89620276, 89620279, 89620302-89620324, 89620359-89620363, 89620367, 89620899, 89620903-89620911, 89623296, 89623406-89623451, 89623465, 89623477-89623480
299FANCA160.94322344322344248436889805009-89805019, 89805029-89805035, 89805103-89805116, 89805342-89805344, 89805542-89805551, 89805610, 89805690, 89805922-89805948, 89806465, 89806469, 89807221-89807261, 89809220-89809233, 89809236, 89809302-89809329, 89837023-89837031, 89842198, 89865608, 89877348-89877357, 89877366-89877367, 89880928-89880938, 89882285-89882290, 89882297-89882298, 89882310-89882314, 89882963-89882965, 89882971-89882982, 89882991-89882995, 89883003-89883023
300TUBB3160.80044345898004270135389989817-89989818, 89999877, 89999885, 89999903, 90001367, 90001375, 90001387, 90001432-90001453, 90001480-90001486, 90001676-90001701, 90001729-90001752, 90001794-90001829, 90001858-90001866, 90001890-90001924, 90002052-90002093, 90002152-90002212
301CHRNE170.99797570850202314824802176, 4802771, 4804430
302GP1BA170.989583333333332019204837153-4837168, 4837212-4837213, 4837231, 4837243
303ENO3170.949425287356326613054858386, 4859239-4859240, 4859377-4859395, 4859407-4859415, 4859897-4859918, 4859964-4859976
304AIPL1170.99393939393939711556330065-6330071
305PITPNM3170.972649572649578029256373615-6373655, 6374496-6374497, 6374500, 6374531, 6374549, 6374602, 6374637-6374644, 6441314-6441316, 6459705-6459726
306MYH8170.9453044375645318581410297577-10297578, 10299706, 10301761-10301762, 10301798-10301811, 10301898-10301919, 10301939-10301957, 10302090-10302091, 10302096-10302112, 10302167-10302170, 10302181-10302187, 10302195, 10304195, 10304382, 10304483, 10304865, 10304922-10304944, 10304993-10305002, 10305053-10305056, 10307666-10307672, 10307680, 10307723-10307725, 10307780, 10307895-10307896, 10309364-10309388, 10309489-10309494, 10309606-10309607, 10309626, 10309630-10309638, 10309643-10309645, 10309651, 10309659, 10310027-10310031, 10310035, 10310039, 10310122, 10310209-10310242, 10312599-10312609, 10312620-10312624, 10314157-10314180, 10314232, 10315927-10315943, 10315947-10315954, 10317281, 10317796, 10317801, 10318635-10318636, 10318699-10318701, 10318998-10319004, 10323370
307MYH2170.99914177823555582610446424-10446428
308MYH3170.9891808346213363582310534972, 10538704, 10538879, 10541528, 10541569, 10543013-10543048, 10543384, 10543387-10543395, 10544470, 10545848, 10551926-10551934, 10555817
309SCO1170.99227373068433790610600648-10600654
310TNFRSF13B170.908163265306128188216842946-16842993, 16843082, 16843706, 16843762, 16852124, 16852135, 16852153, 16852225-16852241, 16855878, 16855883-16855890, 16855894
311FLCN170.9890804597701119174017127429-17127430, 17127438, 17127442, 17131235-17131249
312RAI1170.98164656528579105572117696366, 17697094-17697108, 17697111-17697127, 17697614-17697622, 17698254-17698256, 17698778, 17698878-17698879, 17698951, 17699141-17699155, 17699163, 17699278, 17699498, 17699614, 17699751, 17699827-17699834, 17699845-17699848, 17700933, 17701152, 17701565-17701586
313MYO15A170.947890116114425521059318023280, 18023897, 18023900-18023905, 18023913, 18023977, 18023981-18023985, 18024007-18024055, 18024115, 18024122, 18024132, 18024150-18024170, 18024207, 18024221-18024238, 18024253, 18024263-18024270, 18024347-18024391, 18024405-18024428, 18024444-18024481, 18024527-18024528, 18024546, 18024567-18024584, 18024620-18024626, 18024670, 18024728-18024734, 18024759-18024788, 18024806-18024807, 18024813-18024816, 18024883-18024919, 18025030, 18025069-18025080, 18025180-18025183, 18025194-18025197, 18025232-18025234, 18025238-18025240, 18027834-18027837, 18043946, 18043955, 18045393-18045411, 18046070, 18046079, 18046088-18046090, 18046898, 18046905-18046912, 18047040, 18047246, 18047257, 18047299, 18047845-18047853, 18047892, 18049291-18049292, 18049324, 18049352, 18049364, 18051435, 18052248, 18053809-18053812, 18054585, 18057459-18057466, 18061059, 18061065-18061067, 18061078-18061124, 18061198-18061214, 18064637-18064638, 18070933-18070982
314ALDH3A2170.999345121152591152719554984
315UNC119170.8450899031811911272326879360, 26879364, 26879382, 26879393-26879434, 26879449-26879464, 26879489, 26879515-26879564
316NEK8170.9990379990382207927067962, 27067968
317SLC6A4170.9688325409403159189328543122, 28543127-28543134, 28543172-28543208, 28543222-28543234
318TCAP170.954365079365082350437822075, 37822190-37822208, 37822341, 37822348-37822349
319KRT10170.9914529914529915175538975242-38975248, 38975328, 38978459-38978465
320KRT9170.998931623931622187239728008-39728009
321KRT14170.76321353065539336141939738752, 39738760, 39739347, 39739487-39739515, 39739531-39739557, 39739575-39739602, 39739912, 39740015, 39741307, 39742570-39742588, 39742627-39742658, 39742682, 39742704-39742721, 39742757-39742763, 39742787, 39742829-39742872, 39742883-39742940, 39742958-39742973, 39742985-39743014, 39743043-39743054, 39743079-39743086
322KRT16170.77637130801688318142239766192-39766225, 39766240-39766246, 39766265-39766281, 39766639, 39766647-39766648, 39766761-39766767, 39767225-39767231, 39767423-39767429, 39767597, 39767642-39767648, 39767684, 39768410-39768453, 39768489-39768497, 39768556-39768577, 39768632-39768664, 39768691-39768730, 39768740-39768771, 39768819, 39768833, 39768883-39768927
323KRT17170.7490377213241326129939776919-39776962, 39776973-39777025, 39777862-39777868, 39777896-39777923, 39777974-39778004, 39778681-39778725, 39779203-39779232, 39779263-39779269, 39779277-39779284, 39780434-39780471, 39780516-39780540, 39780561-39780567, 39780611, 39780624, 39780761
324JUP170.999106344950852223839927993-39927994
325FKBP10170.9782732990280238174939969297-39969298, 39969301-39969304, 39969331-39969352, 39969389-39969392, 39969398-39969399, 39969433-39969434, 39973410, 39978603
326NAGLU170.9870071684587829223240688378-40688400, 40688426, 40688429, 40688502-40688503, 40688559, 40688589
327WNK4170.99892818863884373240947242-40947245
328BRCA1170.999823165340411565541246686
329GRN170.9663299663299760178242426562, 42428103, 42428926-42428933, 42429083-42429091, 42429422-42429439, 42429730-42429738, 42429867-42429868, 42429921-42429930, 42430054, 42430059
330ITGA2B170.9913461538461527312042449789, 42460942, 42460951, 42461032-42461052, 42462691, 42462984, 42466815
331MAPT170.9974259974266233144055747, 44055759, 44055793-44055795, 44055798
332WNT3170.87546816479401133106844845701, 44845738, 44845773-44845790, 44845795, 44845798, 44845825-44845826, 44845873, 44845922-44845924, 44845980, 44845987-44846000, 44847377, 44847382-44847384, 44851035, 44851045, 44851050-44851053, 44851072-44851118, 44851191-44851193, 44851246-44851275
333ITGB3170.999155048584712236745369856, 45376715
334PNPO170.99745547073791278646023341, 46024098
335SGCA170.9879725085910714116448252631, 48252673, 48252679, 48252683, 48252749-48252758
336COL1A1170.90147895335609433439548262875-48262876, 48262879-48262888, 48262918-48262927, 48262974-48262977, 48263139-48263143, 48263175-48263209, 48263247, 48263255, 48263380, 48263726-48263751, 48264014-48264021, 48264081-48264100, 48264139, 48264145, 48264192-48264198, 48264275, 48264420-48264438, 48264450-48264483, 48264861-48264865, 48264883-48264884, 48264893-48264898, 48265242-48265258, 48265332, 48265336-48265344, 48265495, 48265499, 48265891-48265907, 48266126-48266130, 48266149-48266156, 48266289, 48266315, 48266560, 48266613-48266616, 48266738-48266742, 48266751, 48266764-48266837, 48266894, 48267065, 48267069, 48267072, 48267075, 48267420-48267435, 48267913, 48268200-48268202, 48270159-48270162, 48271304-48271319, 48271339, 48271539-48271542, 48271716, 48271737, 48272082-48272083, 48272134-48272158, 48272460, 48273714-48273715, 48274589-48274594
337TRIM37170.95474956822107131289557119216, 57119230, 57125073, 57125105-57125109, 57128629-57128673, 57134236-57134260, 57134297-57134316, 57134375-57134381, 57134397-57134415, 57138451-57138455, 57141766, 57161398
338CA4170.99574014909478493958227396-58227399
339TBX4170.9792429792429834163859557570-59557603
340ACE170.96863045141546123392161554456, 61554465-61554527, 61554557-61554571, 61557151-61557155, 61557254, 61558987, 61561298-61561308, 61561818-61561840, 61562639-61562640, 61564433
341SCN4A170.9838504808564789551162018372, 62018627, 62018681-62018689, 62018896-62018943, 62019166-62019182, 62019227, 62019253-62019261, 62020347-62020348, 62020350
342COG1170.999320421338772294371189268, 71189339
343DNAI2170.9669966996699760181872277957-72277974, 72277979-72277980, 72278069-72278081, 72278113-72278139
344USH1G170.9956709956716138672916211-72916216
345TSEN54170.87286527514231201158173512652-73512667, 73512689-73512697, 73512829-73512834, 73512855, 73512860, 73512899-73512941, 73513107-73513153, 73513728-73513729, 73518291, 73518304-73518331, 73518354-73518400
346ITGB4170.94752239897605287546973726991-73727000, 73727035, 73749936, 73749939, 73749942-73749947, 73749970-73750000, 73750010, 73751782-73751797, 73751847-73751849, 73751872, 73751883-73751896, 73751918-73751922, 73752510-73752525, 73752564-73752587, 73752605, 73752656-73752662, 73752785-73752816, 73752866-73752882, 73753047, 73753051-73753062, 73753090-73753092, 73753101-73753105, 73753114-73753144, 73753323-73753334, 73753388-73753391, 73753503, 73753509, 73753547-73753554, 73753592-73753613
347GALK1170.89821882951654120117973754142, 73754180-73754185, 73754291-73754313, 73754319-73754337, 73754377, 73754404, 73754530-73754538, 73754587, 73754616-73754631, 73754637-73754640, 73754644, 73754653-73754656, 73754660-73754662, 73754668-73754669, 73759168-73759169, 73759176, 73759182-73759184, 73759223-73759224, 73760127-73760139, 73761172-73761177, 73761181, 73761205
348UNC13D170.98075160403363327373824164, 73824882, 73825049-73825064, 73826455-73826462, 73826659-73826664, 73827205, 73827212, 73827218, 73827383-73827385, 73830175, 73830498, 73832759, 73832769-73832772, 73832775, 73838530-73838534, 73838982-73838987, 73839127-73839128, 73839135, 73839275, 73840398, 73840403
349ACOX1170.998487140695923198373975057-73975059
350SEPT9170.85576377058489254176175478289, 75478292, 75478301-75478302, 75478323-75478328, 75478358-75478376, 75483601-75483634, 75484856-75484870, 75484909-75484946, 75486889, 75488703, 75494605-75494740
351SGSH170.994035785288279150978184673-78184681
352ACTG1170.998226950354612112879477954, 79478351
353FSCN2170.112237998647731313147979495558-79495614, 79495632-79495708, 79495718-79495722, 79495730-79495900, 79495912-79496117, 79496139-79496177, 79496187-79496221, 79496231-79496261, 79496270-79496322, 79496350-79496368, 79502078-79502189, 79502198-79502230, 79503172-79503293, 79503648-79503657, 79503667-79503803, 79503901-79504106
354NDUFV2180.9986666666666717509126834
355NPC1180.9908782903309935383721118550, 21119339, 21119409, 21119803-21119804, 21119811, 21121067, 21123440-21123465, 21125051, 21166280
356LAMA3180.99640071985603361000221269660, 21485545, 21489219, 21489222-21489229, 21489234, 21494405-21494425, 21494763, 21494767, 21495382
357LOXHD1180.998794454490668663644104516-44104522, 44104537
358MYO5B180.9893636199747659554747352944-47352980, 47364149-47364155, 47365663, 47373521, 47373539-47373545, 47721158-47721163
359SMAD4180.9909584086799315165948593495, 48603059-48603064, 48603098-48603105
360TCF4180.999503968253971201653018150
361FECH180.994573643410857129055221569-55221575
362ATP8B1180.999201277955273375655315740, 55315812, 55315905
363CCBE1180.992628992628999122157134050-57134058
364TNFRSF11A180.9643435980551166185159992586-59992651
365CTDP1180.94109494109494170288677439968-77439999, 77440014-77440036, 77440045-77440067, 77440128, 77440142-77440177, 77440219, 77474538, 77474746-77474767, 77474892, 77475464, 77477835-77477839, 77496355-77496375, 77496411, 77496422, 77496462
366ELANE190.24502487562189607804852329-852380, 852383-852385, 852876-853010, 853023-853032, 853262-853275, 853293-853403, 855580-855638, 855676, 855679-855680, 855687-855714, 855717-855719, 855740-855763, 855766-855768, 855793, 855958-855968, 855977-856055, 856086-856098, 856107-856164
367KISS1R190.98579782790309171197918567, 918582, 918654-918668
368STK11190.9032258064516112613021207036, 1219346, 1220372-1220377, 1220635, 1220649-1220653, 1220666-1220669, 1221230-1221253, 1221262-1221310, 1221321-1221339, 1223043, 1223049, 1223079, 1223142-1223148, 1226473-1226474, 1226589, 1226638-1226639, 1226644
369GAMT190.98765432098765108101398873, 1398882-1398885, 1399187, 1401434-1401436, 1401442
370RAX2190.169369369369374615553770619, 3770631-3770861, 3770892, 3770895, 3770900-3770901, 3770904-3770924, 3770940-3770957, 3771526-3771573, 3771587-3771714, 3771731-3771740
371MAP2K2190.7971737323358324412034090596-4090601, 4090634-4090679, 4094495-4094496, 4095401-4095426, 4097324-4097341, 4099204-4099226, 4099241, 4099321, 4099362-4099384, 4101064-4101065, 4110606, 4117463, 4117567, 4117585, 4123781-4123872
372TUBB4190.940823970037457913356495185-6495232, 6495418-6495447, 6502170
373C3190.9573317307692321349926693488-6693494, 6696408-6696414, 6702154-6702160, 6707089-6707101, 6707107-6707158, 6707828-6707831, 6707871, 6707880, 6709717-6709757, 6709781-6709807, 6709848, 6710766-6710769, 6710773-6710774, 6713277-6713286, 6713503, 6714005, 6714033-6714034, 6714177-6714180, 6714185, 6714207-6714233
374INSR190.987466859484215241497152771, 7152792-7152831, 7152844, 7152929-7152938
375MCOLN1190.946643717728069317437587654, 7591404-7591412, 7594008-7594042, 7594476-7594486, 7594513, 7594527, 7595181, 7595191, 7595214, 7598419-7598434, 7598481-7598482, 7598524-7598532, 7598645-7598648, 7598652
376PNPLA6190.9618473895582315239847600895, 7601408, 7605814-7605816, 7606906-7606937, 7606948, 7607467-7607476, 7607719, 7607722, 7607961, 7615215, 7615262, 7615281, 7615499-7615506, 7615880-7615885, 7615893-7615933, 7615953-7615977, 7616276-7616278, 7616281-7616287, 7616294, 7620195-7620201
377STXBP2190.971941638608315017827702036-7702069, 7706985, 7707136, 7707189, 7707195, 7707198, 7707924-7707934
378ADAMTS10190.992753623188412433128651579, 8654167, 8654218-8654223, 8654236, 8654240-8654241, 8654386, 8654390-8654394, 8670152-8670154, 8670162, 8670165-8670166, 8670200
379TYK2190.94416386083053199356410464221-10464225, 10476390, 10488890-10489082
380DNM2190.999617298124761261310912976
381LDLR190.87185443283004331258311210999-11211005, 11215935-11215937, 11216006, 11216150-11216153, 11216165, 11216168, 11217252, 11217307-11217317, 11218069-11218085, 11218179-11218180, 11218184-11218190, 11221328-11221334, 11221359-11221360, 11221369-11221372, 11221382, 11221431, 11222196-11222207, 11222258, 11222300-11222315, 11223977-11224029, 11224049, 11224058-11224062, 11224075, 11224096-11224111, 11224247-11224330, 11224342-11224348, 11224432-11224438, 11226852, 11227596, 11227656-11227662, 11231195-11231196, 11234003, 11234009-11234020, 11238754, 11240250-11240251, 11240313-11240331, 11240337-11240346, 11241970-11241971
382LDLR190.891228070175443128511240313-11240331, 11240337-11240346, 11241970-11241971
383PRKCSH190.9590422180214265158711546957, 11546960, 11547210-11547225, 11547233-11547252, 11548888-11548896, 11558341-11558346, 11558508-11558519
384CACNA1A190.94974072596729378752113318243, 13318292, 13318351-13318370, 13318402-13318413, 13318438-13318469, 13318497-13318499, 13318507, 13318536, 13318540-13318541, 13318568-13318581, 13318615-13318628, 13318634-13318716, 13318774-13318816, 13318862-13318867, 13319603-13319605, 13319608-13319610, 13319614-13319615, 13319692-13319700, 13409380-13409404, 13409462-13409467, 13409480, 13409483, 13409518-13409524, 13409591, 13409594, 13409598-13409603, 13409606, 13409652, 13409785, 13409853, 13409883-13409899, 13411467, 13414374-13414391, 13414407, 13414414, 13414427, 13414610-13414618, 13414665-13414667, 13414674, 13414698, 13418612-13418630, 13427944, 13445208-13445210
385JAK3190.90162962962963332337517940917-17940922, 17940929-17940956, 17940962-17940979, 17940991-17941027, 17941312-17941352, 17941374-17941393, 17941424, 17942054-17942080, 17947940, 17948765, 17950381-17950384, 17953142-17953152, 17953155-17953159, 17953192, 17953197-17953199, 17953203, 17953223-17953258, 17953347-17953365, 17953844-17953847, 17953864, 17953890-17953922, 17954288, 17954634-17954663, 17955067, 17955151, 17955226
386SLC5A5190.82453416149068339193217983194-17983195, 17983212-17983220, 17983226-17983254, 17983257, 17983356-17983367, 17983451-17983454, 17983469-17983471, 17984947-17984954, 17984967, 17984978-17984988, 17984994-17985012, 17985303-17985335, 17985473-17985483, 17985493-17985526, 17985539-17985540, 17986761-17986762, 17986767-17986768, 17986895-17986896, 17988656-17988672, 17988874-17988902, 17991675-17991699, 17992868-17992877, 17992980-17992982, 17992987-17992988, 17992998, 17993014-17993015, 17993022-17993028, 17994517, 17994520-17994530, 17994675, 17994706-17994716, 17994720, 17994730, 17994833-17994834, 17994843-17994849, 17999165-17999179, 17999256-17999263
387IL12RB1190.52790346907994939198918177369-18177373, 18177376, 18177404-18177422, 18177456-18177462, 18177506-18177507, 18179199-18179211, 18179229-18179238, 18179253-18179274, 18179304-18179318, 18179326, 18180383, 18180449-18180450, 18180465, 18180499, 18182924-18182954, 18182965-18182995, 18183006-18183009, 18183020-18183037, 18183047-18183106, 18183118, 18184327-18184365, 18184400, 18184403-18184404, 18186559-18186678, 18187107-18187137, 18188326-18188452, 18191642-18191811, 18192960-18192967, 18192979, 18192985-18192993, 18193001-18193050, 18193063-18193074, 18194242-18194301, 18197570-18197633
388COMP190.86411609498681309227418896504-18896507, 18896545-18896546, 18896573, 18896585, 18896785-18896820, 18896830-18896860, 18896905-18896912, 18896951, 18898405-18898411, 18899044-18899045, 18899122, 18899449-18899450, 18899457-18899460, 18899464-18899465, 18899471, 18899482, 18899509-18899540, 18899675-18899676, 18900012, 18900015, 18900033, 18900036, 18900040-18900041, 18900049, 18900064-18900072, 18900076-18900085, 18900099, 18900751-18900764, 18900807, 18900838-18900844, 18900850-18900876, 18900905-18900923, 18901403-18901422, 18901659-18901676, 18901681-18901691, 18901721-18901744, 18902015-18902017
389CEBPA190.48189415041783558107733792480-33792500, 33792642-33792689, 33792712-33792772, 33792790-33792831, 33792840-33792884, 33792901-33792949, 33792955-33793083, 33793121-33793169, 33793188-33793265, 33793275-33793279, 33793286, 33793291-33793320
390SCN1B190.950433705080554080735521725-35521764
391HAMP190.98039215686275525535773520-35773522, 35773531, 35775730
392MAG190.64593301435407666188135786516-35786533, 35786548-35786576, 35786596-35786602, 35786691-35786714, 35786726-35786736, 35786777-35786792, 35786824, 35786848-35786857, 35786879-35786884, 35790457-35790503, 35790516-35790527, 35790537-35790571, 35790577-35790753, 35791060-35791274, 35791302-35791307, 35793355, 35793377-35793405, 35793423, 35793516, 35800822, 35802902-35802920
393PRODH2190.996275605214156161136303280, 36303312, 36303315, 36303334-36303335, 36303368
394TYROBP190.1002949852507430533936395471, 36395474-36395478, 36395491-36395536, 36398120-36398163, 36398348-36398356, 36398377-36398482, 36398632-36398664, 36399070-36399130
395SDHAF1190.925287356321842634836486181-36486198, 36486354-36486361
396WDR62190.94050743657043272457236572393-36572396, 36572416-36572418, 36577638, 36579966-36579967, 36579978-36579988, 36580006-36580007, 36580155-36580162, 36581361-36581384, 36582102-36582115, 36582359-36582367, 36583642, 36583707-36583708, 36584933-36584978, 36584997-36584999, 36590321, 36590329-36590331, 36591700-36591701, 36592998-36593001, 36593898-36593902, 36594101-36594102, 36594453-36594500, 36594634-36594635, 36594858-36594883, 36595471, 36595730, 36595735-36595751, 36595852, 36595855, 36595869, 36595876-36595883, 36595892-36595904, 36595925-36595930
397RYR1190.983528477872592491511738931401-38931420, 38931470-38931486, 38931503-38931504, 38933020, 38987542, 39055725-39055745, 39055756-39055863, 39055872-39055878, 39055910-39055962, 39055988, 39055991, 39056009, 39056018, 39056021-39056023, 39056161, 39056166, 39056177, 39056227, 39056230, 39056233, 39056291, 39075583-39075584, 39075596, 39076582-39076583
398ACTN4190.9689327485380185273639138497, 39214660, 39214679, 39214685-39214692, 39216454, 39218655, 39219718-39219748, 39219922-39219929, 39219969-39219994, 39220015-39220021
399PRX190.97104423164615127438640901307-40901314, 40901592, 40901772, 40902685-40902686, 40902689-40902691, 40902837, 40903411, 40903414-40903416, 40903431, 40903866, 40904558, 40909613-40909614, 40909625-40909627, 40909635-40909658, 40909673, 40909680-40909701, 40909715-40909766
400TGFB1190.83802216538789190117341837008-41837010, 41837092, 41837095, 41838105-41838112, 41838170-41838183, 41850682-41850688, 41850723-41850726, 41854200, 41854207, 41854211-41854213, 41854244-41854295, 41854330-41854333, 41854344-41854348, 41858642-41858686, 41858716-41858719, 41858726-41858728, 41858731, 41858762, 41858868-41858871, 41858879-41858881, 41858887, 41858913-41858932, 41858936-41858939
401BCKDHA190.78251121076233291133841903777-41903783, 41916542, 41916576-41916577, 41916632-41916648, 41916658, 41916661, 41916675, 41916901-41916907, 41919959-41919966, 41919970-41919984, 41920005-41920033, 41920046-41920062, 41925040-41925042, 41925105, 41925116-41925132, 41925138, 41925166-41925167, 41928159, 41928216-41928217, 41928221-41928232, 41928261-41928275, 41928618, 41928652-41928656, 41928670-41928675, 41928903-41928910, 41928926-41928964, 41929008-41929023, 41929061-41929069, 41930356-41930357, 41930416-41930453, 41930500-41930503, 41930509-41930511
402ATP1A3190.96057640021751145367842470744-42470773, 42470782-42470818, 42470849-42470850, 42470860-42470894, 42470933, 42470944-42470950, 42470953-42470956, 42470963-42470972, 42471029, 42471235, 42471254-42471265, 42471357, 42480589, 42489481, 42490038-42490039
403ETHE1190.972549019607842176544012096-44012115, 44015711
404BCAM190.9798622151563338188745312409-45312410, 45312413-45312415, 45312419-45312443, 45312446, 45323993-45323999
405ERCC2190.993429697766115228345867100, 45867112, 45867164-45867165, 45867312-45867315, 45873459-45873465
406SIX5190.9896396396396423222046270151-46270153, 46270368, 46271838, 46271841-46271845, 46272038-46272050
407DMPK190.9947089947089910189046281854-46281862, 46281865
408FKRP190.9737903225806539148847258825, 47259081, 47259248-47259257, 47259384-47259408, 47260134, 47260137
409CRX190.99888888888889190048342661
410DBP190.8220858895705517497849134116-49134124, 49138837-49138902, 49138965, 49139012-49139023, 49139047-49139057, 49139082-49139141, 49139149-49139157, 49139174, 49139177-49139180, 49140197
411BCAT2190.997455470737913117949302932-49302934
412GYS1190.9914182475158119221449494621-49494628, 49496323-49496333
413MED25190.998663101604283224450339183, 50340104-50340105
414MYH14190.9905089183439758611150747522-50747524, 50752992-50753014, 50753037, 50760713-50760719, 50764804-50764823, 50770217-50770220
415KCNC3190.90061565523307226227450823517, 50823567, 50826388-50826391, 50826458, 50831522, 50831723-50831725, 50831811-50831819, 50831855, 50831943-50831944, 50831946-50831954, 50832088, 50832093, 50832101, 50832149-50832339
416KLK4190.99869281045752176551411905
417NLRP12190.93345888261142212318654297308, 54297319, 54299155-54299161, 54301515, 54301534, 54304490-54304527, 54304580-54304586, 54304615-54304638, 54307376, 54312871-54312873, 54312964, 54312982, 54313334-54313342, 54313402-54313436, 54313475, 54313594-54313612, 54313617, 54313628-54313637, 54313642-54313643, 54313657-54313682, 54313707, 54313860-54313861, 54313868, 54313945, 54314026-54314028, 54314152, 54314305, 54314414, 54314420-54314427, 54314430-54314432, 54327355
418PRKCG190.996657115568297209454410086-54410092
419PRPF31190.45533333333333817150054621676-54621721, 54621832, 54625251, 54625266, 54625275, 54625308, 54625876-54625878, 54625954-54625973, 54626842-54626864, 54626926, 54627133, 54627144-54627145, 54627148-54627150, 54627161-54627175, 54627196-54627202, 54627878-54627886, 54627926-54628010, 54628014-54628016, 54629903-54629912, 54629925-54629992, 54631448-54631575, 54631680-54631752, 54632432-54632524, 54632536-54632560, 54632647-54632745, 54634747-54634763, 54634768-54634815, 54634831-54634863
420TSEN34190.9989281886388193354695359
421NLRP7190.93866409762364191311455438992, 55439063, 55439125-55439126, 55439141, 55442034, 55444937-55444953, 55444977-55445016, 55445045-55445072, 55445086-55445098, 55445857, 55445924-55445926, 55445935, 55445941-55445943, 55445951, 55445956, 55445980, 55447655, 55447658-55447661, 55447676, 55447695, 55447798-55447799, 55450670, 55451167-55451216, 55451238, 55451249, 55451253, 55451537, 55453042-55453047, 55453051-55453054, 55453058-55453059
422TNNT1190.7541191381495619478955644286-55644294, 55644302-55644309, 55644318-55644328, 55645268-55645269, 55645289-55645291, 55645295, 55645434-55645445, 55645472-55645517, 55648489-55648493, 55648526-55648575, 55649377-55649378, 55649421-55649430, 55652251-55652271, 55652291-55652292, 55652297-55652307, 55652609
423TNNI3190.99671592775041260955665564, 55666174
424TPO20.8890078515346231128021481002-1481033, 1481062-1481096, 1481131, 1481155-1481156, 1481222-1481224, 1481231, 1481285-1481330, 1520655-1520657, 1520660-1520663, 1520671, 1520683-1520684, 1520698-1520703, 1520715-1520742, 1544366-1544383, 1544399-1544495, 1546201-1546202, 1546205-1546210, 1546223-1546246
425KLF1120.9720597790773243153910183844-10183885, 10192357
426LPIN120.999251777029552267311911803-11911804
427MYCN20.996415770609325139516082307-16082311
428POMC20.99378109452736580425384430-25384433, 25384435
429OTOF20.9881548214881571599426688662, 26697430, 26699762, 26699781, 26699788-26699790, 26699798, 26699805, 26699815-26699858, 26699896, 26699902, 26699907, 26700044-26700045, 26700109, 26703075, 26712603-26712608, 26739352, 26739378, 26739430-26739432
430C2orf7120.9971554176364111386729287923-29287933
431ALK20.982932346288383486329430037-29430039, 29430053-29430101, 29430108-29430135, 29443668-29443669, 30143509
432SPAST20.9794705564559738185132289061, 32289207, 32289300, 32339845-32339846, 32340771-32340772, 32340827-32340855, 32341224, 32341240
433CYP1B120.92647058823529120163238298093-38298099, 38298432, 38301784-38301787, 38301792, 38301922-38301942, 38301972-38301984, 38302012-38302018, 38302191-38302224, 38302414-38302445
434SOS120.91404297851074344400239212980-39212988, 39213017-39213021, 39213030-39213043, 39213271-39213281, 39213326-39213327, 39213331-39213332, 39214623-39214640, 39214669, 39214673-39214675, 39214683, 39214698, 39222295-39222329, 39222382-39222423, 39222515-39222528, 39224101-39224117, 39224178-39224179, 39224394-39224426, 39224438-39224479, 39224547-39224566, 39233645, 39234191, 39234217-39234218, 39234254, 39234257, 39234314, 39237759-39237766, 39240625-39240645, 39240701-39240704, 39241906-39241912, 39250172, 39251194, 39281919-39281930, 39285891-39285897, 39294809, 39347528, 39347531-39347532
435ABCG520.9882413087934623195644040401, 44055139-44055153, 44058979-44058984, 44059100
436ABCG820.9678536102868465202244099164, 44099178-44099183, 44099362-44099369, 44099400, 44099405-44099429, 44100928-44100931, 44100989-44100992, 44101117-44101125, 44102353, 44102359-44102360, 44102368-44102371
437LRPPRC20.93643966547192266418544128530-44128537, 44139607, 44170834, 44174913, 44175327-44175337, 44176789-44176798, 44187680-44187683, 44187733-44187747, 44187772-44187773, 44190771, 44200810-44200845, 44200967-44200975, 44201289-44201316, 44201397, 44201768-44201795, 44202230-44202234, 44202271-44202319, 44202350-44202351, 44203348-44203349, 44204164-44204166, 44204173, 44204317-44204321, 44204396, 44206969, 44206973-44206996, 44207016, 44207058, 44209467-44209480, 44223033
438SIX320.99199199199199899945171721-45171727, 45171842
439MSH220.9950089126559714280547630494-47630495, 47707867, 47707871, 47707901, 47707979-47707987
440MSH620.9968160666176813408348010381, 48010385-48010386, 48010493, 48010509, 48010513, 48010523, 48010535, 48010540-48010541, 48010544, 48010616-48010617
441NRXN120.997966101694929442550850592-50850600
442EFEMP120.997300944669374148256094278-56094281
443PEX1320.9810231023102323121261258618, 61258633, 61258641-61258655, 61258871-61258876
444ATP6V1B120.998702983138782154271163089, 71163092
445MCEE20.98681732580038753171351515-71351521
446DYSF20.9970125786163519636071839853, 71839888-71839903, 71840517, 71883420
447SPR20.941475826972014678673114574, 73114617-73114619, 73114625-73114626, 73114731, 73114795-73114821, 73114833-73114843, 73115506
448ALMS120.99792066538708261250473613032-73613034, 73651771, 73651776, 73651782, 73676776-73676779, 73676924-73676928, 73676937, 73680645, 73761998, 73827996-73828002, 73828342
449MOGS20.94908512330947128251474688471, 74688817-74688839, 74688842, 74688923-74688925, 74688940, 74689062, 74689151-74689157, 74689324, 74689824, 74689945-74689952, 74689973, 74689989, 74690061, 74690089, 74690092-74690106, 74691791, 74692111, 74692125, 74692144, 74692191, 74692207-74692208, 74692231, 74692254-74692307
450EIF2AK320.9704565801253499335188861824-88861834, 88861892, 88870424-88870430, 88874202-88874210, 88874803-88874807, 88879095, 88882948-88882984, 88883004, 88883011, 88883017-88883023, 88887504, 88888312-88888322, 88888329, 88888367-88888368, 88926730-88926732, 88926743
451TMEM12720.99721059972106271796930984, 96931106
452SNRNP20020.9920449227889651641196955541-96955545, 96959137-96959140, 96959143, 96959244-96959247, 96968974-96969010
453ZAP7020.998387096774193186098340579, 98349767-98349768
454RANBP220.943772609819125449675109357110-109357116, 109365376-109365379, 109365391, 109365452-109365498, 109367725-109367775, 109370343-109370363, 109378557-109378566, 109378648-109378651, 109379718, 109382635-109382641, 109382700-109382734, 109383039-109383086, 109383268-109383315, 109383354-109383360, 109383667-109383684, 109383753-109383798, 109383885-109383921, 109384154-109384178, 109384462-109384490, 109384523-109384567, 109384628-109384641, 109384781-109384809, 109398588-109398591, 109399066-109399070, 109400323
455MERTK20.97966666666667613000112656313-112656373
456GLI220.9997899600924214761121746441
457BIN120.942199775533111031782127806116-127806123, 127808014-127808018, 127808456-127808488, 127808730, 127808771-127808777, 127811558, 127815101-127815146, 127834224, 127834228
458CFC120.997023809523812672131280372, 131285313
459MMADHC20.9169472502805874891150427600, 150427603-150427620, 150427676-150427685, 150432251-150432253, 150432260-150432268, 150432271, 150432290, 150432354, 150433018-150433037, 150435983, 150435986-150435988, 150436120, 150438655-150438657, 150438679, 150438699
460NEB20.999249023730851519974152432809, 152499297, 152500449, 152507248-152507255, 152520181, 152524379-152524381
461CACNB420.9974408189379441563152695818, 152698512, 152698524-152698525
462SCN2A20.99734130940512166018166171999-166172001, 166211020-166211028, 166223866, 166231196, 166231394, 166237675
463SCN1A20.9994997498749435997166892788, 166895933-166895934
464ABCB1120.956379223398891733966169780316, 169783751, 169783756-169783759, 169783852-169783872, 169792877-169792880, 169814486, 169814497-169814499, 169820802, 169824965, 169825934-169825943, 169825948, 169825980-169826029, 169826605, 169826622, 169828367-169828398, 169828497, 169828505, 169830227, 169833098-169833135
465SLC25A1220.9985272459499332037172690506, 172700974-172700975
466ITGA620.9984737484737553276173335798, 173338912, 173355954, 173356024, 173362718
467CHRNA120.98908296943231151374175618328-175618333, 175618372, 175618378, 175619045, 175624231-175624236
468AGPS20.99241274658574151977178257587-178257598, 178257626, 178301565, 178301568
469PRKRA20.998938428874731942179314985
470DFNB5920.93201133144476721059179318216-179318218, 179318221-179318223, 179318321-179318347, 179319059-179319081, 179319162-179319167, 179319232-179319239, 179325113, 179325999
471TTN20.9996608411140434100248179431553-179431554, 179431962-179431965, 179433549, 179434076, 179435523, 179438606, 179440081, 179442715-179442718, 179444917, 179446845, 179563640-179563641, 179628976-179628980, 179629273, 179633453-179633455, 179643639-179643644
472COL3A120.99704612588048134401189870932-189870937, 189872276-189872278, 189872619, 189876410, 189876413, 189876497
473COL5A220.9982222222222284500189904246, 189915380, 189916898-189916901, 189916921, 189925492
474PMS120.9935691318328182799190738298-190738314, 190738318
475HSPD120.98373983739837281722198351859, 198352621, 198353176-198353194, 198358166-198358170, 198358895, 198359428
476CASP1020.98470363288719241569202050658-202050673, 202050705, 202050770-202050776
477CASP820.97835497835498351617202137464-202137469, 202141675, 202149550, 202149563, 202149612, 202149663-202149680, 202149683-202149687, 202149691, 202149897
478BMPR220.961180622393331213117203378535-203378550, 203379613-203379615, 203379687-203379688, 203379694-203379695, 203383758, 203383767, 203384810-203384829, 203384885, 203384890, 203384906-203384915, 203384918-203384924, 203395567-203395616, 203397430, 203420773-203420776, 203420801, 203421186
479ICOS20.996666666666672600204820550, 204821481
480NDUFS120.99542124542125102184207017162-207017170, 207017180
481FASTKD220.9981247069854742133207631532-207631533, 207631904, 207632105
482CPS120.98445480790584704503211421458, 211421479, 211421539, 211421542, 211421578-211421580, 211455596-211455600, 211455612-211455613, 211459234-211459267, 211460211-211460218, 211464096-211464097, 211464153, 211464217, 211469897, 211507213-211507214, 211525304-211525310
483ABCA1220.9998715973292217788215854183
484SMARCAL120.99336823734729192865217315620-217315634, 217315759-217315762
485PNKD20.9965457685664941158219204782-219204785
486BCS1L20.9976190476190531260219525921, 219525944, 219525953
487DES20.9950460014154371413220283277, 220283704-220283709
488OBSL120.9998242839571315691220435375
489PAX320.9986824769433521518223084919, 223086020
490COL4A420.9806477093207985064227958846-227958851, 227958854-227958863, 227958867-227958869, 227958880-227958892, 227958897-227958909, 227958914, 227958948-227958954, 227964336, 227966254, 227966262, 227966596, 227966617, 227967541-227967555, 227967912-227967913, 227968693-227968714, 227968768
491COL4A320.959505286255742035013228111435, 228128593, 228142208, 228142238, 228144579, 228145257, 228145264-228145265, 228148979, 228149027-228149033, 228153894-228153917, 228155540-228155541, 228162459, 228162490-228162520, 228163420, 228163424, 228163433-228163479, 228163501-228163528, 228167777-228167820, 228174027-228174034
492SLC19A320.9986586183769321491228563535, 228563539
493CHRND20.98906048906049171554233390927-233390940, 233390944-233390946
494COL6A320.986049926578561339534238249095, 238249292-238249317, 238249450, 238249455, 238249516, 238271954, 238283111, 238285538, 238303296, 238303300, 238303436, 238303446, 238303458, 238303461-238303462, 238303505, 238303533-238303534, 238303543-238303548, 238303588-238303635, 238303648-238303656, 238305371-238305391, 238305421, 238305424-238305426, 238305432-238305433
495AGXT20.487701441899926041179241808283-241808308, 241808324-241808331, 241808335-241808343, 241808349-241808447, 241808587-241808667, 241808674-241808779, 241810061-241810125, 241810766-241810816, 241810822-241810850, 241810864-241810866, 241812399, 241812407, 241812414-241812437, 241812439, 241812443, 241812450-241812466, 241813409, 241813430-241813477, 241814578-241814580, 241814606, 241814613-241814616, 241815364-241815369, 241816976-241816983, 241816999, 241817441, 241818131-241818138, 241818218
496D2HGDH20.98212005108557281566242707308-242707335
497AVP200.563636363636362164953063296, 3063320-3063374, 3063390-3063433, 3063446-3063447, 3063623-3063652, 3063663-3063664, 3063687-3063692, 3063706, 3063719-3063723, 3063728-3063737, 3063740, 3063750, 3063770-3063823, 3065316-3065319
498PANK2200.99708114419148517133891375-3891379
499PROKR2200.989583333333331211525294708-5294719
500FERMT1200.990658800393311920346060116-6060122, 6069679, 6077652-6077661, 6077671
501MKKS200.88441330998249198171310385906-10385953, 10386024, 10386035, 10388264-10388294, 10388329, 10388351-10388374, 10389277-10389280, 10389324, 10389398-10389413, 10393210, 10393213, 10393335, 10393467, 10393640-10393648, 10393741-10393764, 10393788-10393801, 10393821-10393824, 10393933, 10393984-10393985, 10394043-10394055
502SNTA1200.87812911725955185151832000222, 32005561-32005568, 32031158-32031237, 32031248-32031264, 32031304, 32031310-32031356, 32031365-32031367, 32031380-32031407
503GDF5200.9548472775564468150634022219-34022228, 34022361-34022364, 34022387, 34022400, 34022461-34022476, 34025108-34025141, 34025271, 34025278
504SAMHD1200.998405103668263188135579852-35579854
505HNF4A200.9901754385964914142543052787, 43052795-43052807
506CTSA200.999331997327991149744520227
507DPM1200.99233716475096678349574979-49574982, 49575036-49575037
508SALL4200.9946236559139817316250418821-50418837
509GNAS200.998715478484264311457429643, 57429646-57429647, 57429683
510COL9A3200.9649635036496472205561448417-61448468, 61456369-61456373, 61461904-61461918
511CHRNA4200.44479830148621046188461978133-61978155, 61978164-61978166, 61978191-61978215, 61981005-61981008, 61981013-61981019, 61981036-61981051, 61981069-61981090, 61981097-61981141, 61981164-61981173, 61981178-61981186, 61981235, 61981238-61981244, 61981247-61981251, 61981259, 61981267, 61981280-61981301, 61981325-61981327, 61981330, 61981335-61981338, 61981342-61981380, 61981451-61981460, 61981469-61981470, 61981507-61981554, 61981565-61981567, 61981585-61981639, 61981663, 61981667-61981693, 61981745-61981749, 61981779-61981825, 61981848-61981908, 61981938-61981939, 61981942-61981954, 61982000, 61982041, 61982054, 61982078-61982080, 61982083-61982085, 61982124, 61982138-61982142, 61982162-61982203, 61982265-61982299, 61982305-61982329, 61982352-61982375, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
512KCNQ2200.505154639175261296261962037997-62038026, 62038037-62038087, 62038212-62038285, 62038338-62038353, 62038365, 62038371, 62038391, 62038404-62038446, 62038498-62038511, 62038527-62038544, 62038546, 62038552-62038553, 62038564, 62038570-62038593, 62038607, 62038681-62038697, 62038712, 62038719-62038723, 62039766-62039774, 62039797-62039826, 62039854-62039889, 62044849-62044889, 62044908-62044934, 62046257, 62046266-62046278, 62046420, 62046424, 62059720-62059725, 62059749-62059788, 62065193-62065226, 62070007-62070051, 62070951-62070985, 62071010, 62071022-62071038, 62071040-62071061, 62073759-62073787, 62073797-62073861, 62073867-62073884, 62076012-62076051, 62076065-62076123, 62076144, 62076157, 62076165-62076179, 62076591-62076674, 62076697-62076707, 62078155, 62078169-62078176, 62078179-62078186, 62103521-62103816
513SOX18200.42424242424242665115562679541-62679566, 62679677-62679684, 62679687-62679690, 62679709-62679717, 62679766-62679772, 62679812-62679851, 62679886, 62679893-62679896, 62679951, 62679956, 62679961-62679964, 62679982, 62680021-62680071, 62680084-62680151, 62680165-62680213, 62680246-62680258, 62680267, 62680288-62680305, 62680314, 62680512-62680869
514APP210.993514915693915231327326961-27326971, 27394164, 27394170, 27394177, 27394258
515BACH1210.9950248756218911221130715028, 30715066-30715075
516IFNGR2210.9270216962524774101434775850-34775922, 34799292
517RCAN1210.985507246376811175935895845, 35987172, 35987252-35987260
518HLCS210.99587345254479218138128898-38128902, 38309168-38309170, 38309409
519TMPRSS3210.9838827838827822136543795852-43795872, 43805533
520CBS210.99939613526571165644492241
521CSTB210.966329966329971029745196085-45196094
522AIRE210.44383394383394911163845705891-45706007, 45706440-45706456, 45706477-45706479, 45706482-45706505, 45706540-45706542, 45706590, 45706594-45706601, 45706604-45706614, 45706864-45706908, 45706959-45706963, 45707015-45707016, 45707414-45707474, 45708228-45708262, 45708278-45708285, 45708289-45708301, 45708307, 45708334-45708341, 45709592-45709605, 45709639-45709650, 45709683-45709685, 45709871-45709884, 45709905-45709940, 45710990, 45710999-45711020, 45711030-45711035, 45711039, 45711057, 45711083, 45712276-45712277, 45712280, 45712876-45712905, 45712929, 45712941-45712997, 45713007-45713011, 45713029, 45713033-45713034, 45713037-45713058, 45713672-45713776, 45713790-45713793, 45714284-45714386, 45716281-45716328, 45717539-45717595
523ITGB2210.95108225108225113231046308643-46308690, 46308697-46308740, 46308757, 46308766-46308780, 46308809, 46311757-46311760
524COL18A1210.725925925925931443526546875447-46875462, 46875529, 46875699-46875703, 46875781-46875784, 46875973, 46876071-46876087, 46876107, 46876227-46876229, 46876232-46876233, 46876270, 46876282, 46876285, 46876379-46876381, 46876429, 46876457-46876461, 46876527-46876531, 46876556-46876575, 46876578-46876581, 46876619, 46876634, 46876651, 46876655-46876677, 46876684-46876685, 46876733-46876754, 46876770-46876777, 46888491, 46888623-46888627, 46895406-46895407, 46896324-46896344, 46897870-46897873, 46906775-46906836, 46906844-46906856, 46906866-46906868, 46906877-46906880, 46907403-46907412, 46908332-46908358, 46909404-46909429, 46910189-46910260, 46910763-46910785, 46911139-46911228, 46912477, 46912601-46912627, 46913077-46913104, 46913130-46913134, 46913137-46913139, 46913419, 46913440-46913489, 46914459-46914467, 46914478, 46914783-46914811, 46915272-46915346, 46916414-46916440, 46916467-46916482, 46916964-46917006, 46917516-46917561, 46917571-46917575, 46923925-46923931, 46923946-46923960, 46924336, 46924354-46924403, 46924410-46924452, 46924461-46924470, 46925048-46925192, 46925288-46925345, 46925752-46925827, 46925850-46925863, 46925874-46925880, 46927475-46927484, 46927502-46927505, 46929362, 46929464, 46929997, 46930024-46930058, 46930103, 46931025-46931053, 46931059-46931087, 46932167-46932173, 46932210-46932220, 46932272-46932280, 46932307
525COL6A1210.91415613864593265308747401765-47401861, 47402548-47402558, 47402572-47402604, 47402640-47402650, 47402659, 47402676-47402677, 47404205-47404217, 47404238, 47404243-47404246, 47404269-47404291, 47404301-47404310, 47404326-47404340, 47404352, 47406473, 47406574, 47406858-47406868, 47406928-47406932, 47406940, 47406951-47406961, 47406970, 47407418, 47407432, 47407549, 47407552, 47407555, 47410176-47410181, 47410305
526COL6A2210.236601307189542336306047531395, 47531407-47531463, 47531489-47531500, 47531922-47531933, 47531940-47531994, 47532006, 47532069-47532093, 47532150-47532151, 47532174, 47532233, 47532271, 47532322-47532343, 47532346-47532348, 47532459-47532491, 47533951-47533970, 47535809-47535832, 47535923-47535952, 47536291-47536303, 47536582-47536591, 47536684-47536728, 47537314-47537363, 47537788-47537841, 47538528-47538590, 47538944-47539006, 47539013-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542445, 47542789-47542851, 47544565-47544627, 47544799-47544834, 47545180-47545225, 47545379-47545406, 47545410-47545439, 47545460-47545482, 47545497-47545531, 47545699-47545950, 47545959-47546033, 47546053-47546151, 47546417-47546455, 47551868-47551956, 47551967-47552466
527COL6A221034234247552183-47552524
528FTCD210.00307503075030751621162647556901-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571503, 47571509-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
529PCNT210.988812306462891121001147744183-47744186, 47754416-47754466, 47754499-47754513, 47754538-47754579
530PEX26220.99891067538126191818561224
531PRODH220.91514143094842153180318901004, 18904405-18904434, 18905853-18905856, 18907278-18907279, 18908872-18908878, 18908902-18908936, 18909875-18909905, 18910372, 18910376-18910377, 18910444-18910446, 18910652, 18912674-18912678, 18923539-18923549, 18923557, 18923581, 18923585, 18923599, 18923609, 18923659-18923664, 18923670, 18923676, 18923738, 18923745, 18923751, 18923754, 18923771-18923772, 18923800
532GP1BB220.1481481481481552962119711093-19711102, 19711377-19711443, 19711462, 19711479, 19711486-19711500, 19711507-19711919, 19711949-19711970
533TBX1220.58870967741935612148819747167-19747187, 19748428-19748634, 19748644-19748651, 19748660-19748709, 19753302-19753305, 19753312, 19753443-19753451, 19753458-19753511, 19753912-19753929, 19753945-19754049, 19754059-19754101, 19754111-19754151, 19754192, 19754197-19754199, 19754208, 19754279, 19754296, 19754299, 19754309-19754310, 19754313-19754353
534SMARCB1220.997409326424873115824145580, 24175820, 24175826
535HPS4220.9867424242424228211226859961, 26859969-26859973, 26859993, 26859997-26859998, 26860269, 26860492, 26860669, 26860683, 26860691, 26862211-26862214, 26862221-26862228, 26864523-26864524
536CHEK2220.83929585462805283176129083885-29083888, 29083906-29083927, 29083945-29083966, 29085123-29085144, 29085165-29085171, 29090020-29090058, 29091157, 29091197-29091203, 29091715-29091739, 29091778-29091819, 29091837-29091844, 29092923-29092925, 29092932-29092934, 29095851, 29095906-29095925, 29099508, 29106015, 29115383-29115385, 29115414-29115462, 29121288, 29121291, 29126419
537NF2220.9619686800894968178829999994-30000002, 30000015, 30000018, 30000028-30000032, 30000039-30000090
538DRG1220.9791666666666723110431796619-31796641
539SLC5A1220.998997493734342199532495261, 32506143
540MYH9220.9942206357300734588336688033, 36688087, 36688114, 36689381-36689387, 36689413, 36689417-36689426, 36689430, 36690204-36690206, 36690213, 36690251, 36690984-36690985, 36690988, 36691030-36691031, 36697592-36697593
541TRIOBP220.89320935474782758709838119192, 38119213, 38119449-38119494, 38119520-38119526, 38119643, 38119676, 38119713, 38119798-38119836, 38119889-38119905, 38119976-38119999, 38120041, 38120048-38120049, 38120140-38120156, 38120342-38120343, 38120348, 38120426-38120450, 38120474-38120481, 38120622, 38120688-38120710, 38120863-38120897, 38120965, 38120970, 38120980, 38121219, 38121416, 38121419-38121421, 38121514, 38121523, 38121558, 38121561, 38121568-38121569, 38121588-38121599, 38121674, 38121751-38121766, 38121783, 38121786, 38121842-38121871, 38121898-38121936, 38121968-38121971, 38121987, 38122005-38122020, 38122085-38122094, 38122106, 38122123-38122166, 38122181-38122223, 38122301-38122346, 38122359, 38122363-38122367, 38122371, 38122405-38122434, 38122469-38122503, 38129340, 38129384, 38129395-38129396, 38129405-38129406, 38130494, 38130498, 38130524-38130526, 38130748-38130775, 38130934, 38131011-38131039, 38131078, 38131257-38131260, 38131292-38131294, 38131303, 38131401-38131437, 38136905-38136906, 38147818, 38153916-38153949, 38161733, 38165175
542SOX10220.999286224125621140138379667
543PLA2G6220.02044989775051147948938508274-38508312, 38508511-38508584, 38509494-38509799, 38509810-38509869
544PLA2G6220.65551425030979834242138508168-38508194, 38508200-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511538, 38511548-38511563, 38511586-38511610, 38511650-38511688, 38512082-38512137, 38512149-38512218, 38516844-38516850, 38516853, 38516888-38516890, 38519102-38519145, 38519151-38519226, 38519250, 38522430-38522440, 38522444-38522456, 38524321-38524327, 38524344-38524373, 38524393-38524399, 38524402-38524432, 38525534-38525538, 38525566, 38528915, 38529001-38529002, 38531067
545EP300220.999723947550032724541574210-41574211
546TNFRSF13C220.2324324324324342655542321371-42321394, 42321414-42321436, 42321471-42321475, 42321478, 42321504-42321511, 42321524, 42321557-42321558, 42322105-42322335, 42322642-42322651, 42322657-42322777
547CYB5R3220.871964679911711690643015945, 43019867-43019877, 43023391-43023394, 43024169-43024175, 43024201-43024204, 43024220, 43026912-43026913, 43026918, 43026929, 43026947-43026949, 43026971-43026972, 43026979-43026987, 43027399-43027401, 43027405-43027456, 43045301-43045305, 43045312-43045321
548ATXN10220.997198879551824142846239040, 46239549-46239551
549ALG12220.9890933878663916146750307354-50307369
550MLC1220.9400352733686168113450502463-50502494, 50502512-50502515, 50502567-50502570, 50502593-50502595, 50502624, 50506935-50506953, 50512715, 50523270, 50523273-50523275
551SCO2220.968789013732832580150962215, 50962520-50962527, 50962758, 50962768, 50962799, 50962814, 50962822-50962832, 50962840
552TYMP220.81780538302277264144950964199-50964210, 50964243, 50964275-50964347, 50964434-50964435, 50964444, 50964453-50964459, 50964467, 50964479-50964510, 50964522, 50964532-50964542, 50964685, 50964708-50964728, 50964740-50964771, 50964805-50964808, 50964812-50964813, 50964845, 50964889-50964905, 50965008-50965019, 50965091-50965094, 50965109-50965110, 50965120-50965128, 50965601, 50965668, 50965712, 50967027, 50967032-50967033, 50967623, 50967750, 50967753, 50967970-50967972, 50967975-50967979, 50968094
553ARSA220.54330708661417696152451063576-51063592, 51063605-51063704, 51063707-51063736, 51063743, 51063753, 51063763, 51063774-51063892, 51064007-51064009, 51064025, 51064039, 51064066, 51064071, 51064080-51064109, 51064392-51064415, 51064427-51064479, 51064619-51064638, 51064655, 51064706, 51065023, 51065028-51065050, 51065064, 51065089, 51065099, 51065110-51065144, 51065152-51065155, 51065262-51065266, 51065299, 51065306, 51065317, 51065333, 51065336, 51065339, 51065371-51065383, 51065402-51065453, 51065716-51065738, 51065753-51065782, 51065984-51066040, 51066068, 51066075, 51066085, 51066117-51066119, 51066151-51066182, 51066186
554SHANK3220.660945842868041778524451113070-51113132, 51113476-51113653, 51113672-51113679, 51115065-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117483, 51117490-51117520, 51117538-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133240-51133469, 51135671-51135719, 51135951-51136143, 51137119-51137122, 51137154, 51137210-51137224, 51142594-51142600, 51143232-51143241, 51143252-51143264, 51144552-51144576, 51158700-51158715, 51158769-51158776, 51158803-51158804, 51158822-51158832, 51158869-51158886, 51158919-51158923, 51158926, 51159140-51159148, 51159185-51159211, 51159238-51159258, 51159329-51159330, 51159401-51159421, 51159789-51159790, 51160047-51160059, 51160286-51160289, 51160533-51160537, 51160774-51160802, 51169293-51169295, 51169326-51169328, 51169558-51169580, 51169666-51169699
555SUMF130.99911111111111111254508847
556CAV330.93859649122807284568787270-8787297
557FANCD230.82653985507246766441610085533-10085548, 10088266, 10088299, 10088308, 10088343, 10088400-10088407, 10089723, 10091150-10091157, 10094091-10094097, 10103835-10103843, 10106532, 10107090, 10107110-10107116, 10107135-10107171, 10107644, 10107650, 10108911-10108916, 10108946-10108974, 10114557, 10114589, 10114654, 10114665, 10114944, 10115018, 10115038-10115040, 10116214, 10116237, 10116244, 10116249-10116256, 10116281, 10116286, 10116306, 10116335-10116336, 10116339, 10116342-10116343, 10119802-10119838, 10122784-10122788, 10122828, 10122831, 10122852-10122863, 10122884-10122898, 10123030-10123032, 10123044-10123049, 10123063-10123068, 10123083-10123112, 10123132-10123136, 10127512-10127521, 10127558-10127604, 10128861, 10128878-10128888, 10128930-10128934, 10130163-10130176, 10130200-10130201, 10130210-10130226, 10130533-10130578, 10130606-10130611, 10130618-10130628, 10130632, 10131978-10132034, 10132052-10132054, 10132057-10132069, 10133865-10133887, 10133920-10133933, 10134969-10135007, 10135973-10135974, 10136003-10136013, 10136884-10136888, 10136902-10136906, 10136913-10136914, 10136939-10136940, 10138020-10138024, 10138069-10138111, 10138121, 10138127, 10140431-10140475, 10140507, 10140527-10140561, 10140611-10140612, 10140630
558VHL30.760124610591915464210183543, 10183546, 10183595-10183633, 10183660-10183721, 10183728-10183749, 10183809-10183826, 10183848-10183858
559RAF130.91371340523883168194712627214, 12641214-12641215, 12641651-12641664, 12641717-12641734, 12645651-12645657, 12645669-12645701, 12645708-12645710, 12647722-12647735, 12647762-12647798, 12650281-12650288, 12650291-12650292, 12650296-12650297, 12650361, 12650398-12650417, 12650791-12650793, 12653466, 12653471, 12660150
560TMEM4330.997506234413973120314172371-14172373
561XPC30.9741409847679873282314187445, 14200093-14200098, 14200254, 14201272, 14208698, 14208742, 14208746, 14209807-14209850, 14211986-14212002
562TGFBR230.999437886453061177930713560
563GLB130.9867256637168127203433099617-33099620, 33099652-33099662, 33099672, 33099754-33099761, 33138544, 33138549-33138550
564CRTAP30.9917081260364810120633155632-33155638, 33155856-33155858
565MLH130.9652135623073579227137045900-37045903, 37045909-37045919, 37045928, 37048534-37048549, 37048554, 37050340, 37050367-37050396, 37053311-37053313, 37061894-37061905
566SCN5A30.9910001698081253588938616900-38616932, 38618207-38618212, 38622519, 38645277-38645285, 38648162, 38648299-38648301
567TMIE30.98039215686275945946742952-46742953, 46742956-46742960, 46742998, 46743019
568TMIE30.98938428874735547146742998, 46743019, 46751074-46751076
569TREX130.84774774774775169111048507907-48507909, 48507943-48507964, 48508043-48508045, 48508102-48508135, 48508163-48508170, 48508245, 48508286-48508289, 48508421-48508423, 48508620-48508621, 48508662-48508673, 48508686, 48508691-48508707, 48508713-48508715, 48508785, 48508807, 48508819-48508820, 48508853, 48508866-48508911, 48508930, 48508935, 48508938, 48508971-48508972
570COL7A130.9988681380871510883548627106, 48627128, 48627133-48627140
571SLC25A2030.871964679911711690648895148-48895161, 48895940-48895941, 48895953-48895955, 48895993, 48895998-48896000, 48896011-48896015, 48896020-48896024, 48896531-48896540, 48896551, 48897028-48897039, 48897052, 48900025-48900026, 48900037, 48900085-48900092, 48916821-48916826, 48921494-48921504, 48921522, 48921526, 48929469, 48936158-48936176, 48936198-48936199, 48936205, 48936222-48936227
572LAMB230.763572355012041276539749158664-49158690, 49159023-49159025, 49159119-49159126, 49159243-49159270, 49159394-49159415, 49159458-49159506, 49159617-49159619, 49159624, 49159633, 49159695-49159697, 49159700-49159711, 49159723, 49159729, 49159733-49159743, 49159778, 49159787, 49159795, 49160142-49160170, 49160208-49160212, 49160215, 49160253-49160254, 49160265-49160281, 49160304-49160313, 49160331-49160336, 49160342-49160350, 49160375, 49160407, 49160451-49160453, 49160458, 49160649-49160682, 49160688-49160699, 49160722-49160779, 49160919-49160926, 49160957-49160988, 49161047, 49161174, 49161177, 49161183-49161189, 49161202, 49161231, 49161340-49161389, 49161419, 49161422-49161444, 49161484, 49161628-49161647, 49161660, 49161701-49161702, 49161718-49161719, 49161883-49161891, 49161943-49161992, 49161999-49162012, 49162015-49162026, 49162045, 49162138, 49162166-49162202, 49162211-49162220, 49162223-49162234, 49162245, 49162267-49162274, 49162284-49162285, 49162291, 49162296, 49162309-49162349, 49162446-49162448, 49162472-49162475, 49162525, 49162534, 49162588-49162602, 49162816-49162848, 49162889-49162917, 49163264, 49163415-49163420, 49163556, 49163559, 49165927-49165929, 49165941-49165945, 49166108-49166110, 49166188, 49166453-49166475, 49166479, 49166550, 49166553, 49166708, 49167049, 49167067-49167069, 49167075-49167079, 49167135, 49167291, 49167323, 49167350-49167379, 49167389-49167409, 49167421-49167423, 49167442-49167451, 49167691, 49167743-49167749, 49167818, 49168179, 49168202-49168255, 49168383-49168389, 49168393-49168419, 49168431-49168449, 49168508-49168520, 49168575-49168585, 49168837, 49168842, 49168852-49168875, 49169014, 49169107-49169108, 49169120-49169136, 49169140, 49169621-49169622, 49169724-49169745, 49169796, 49169822-49169825, 49169830, 49169929-49169974, 49169993-49169999, 49170009-49170048, 49170062-49170096, 49170233, 49170241, 49170294-49170297
573AMT30.999174917491751121249458973
574GNAT130.84995251661918158105350229193, 50230577, 50231058-50231064, 50231245, 50231542-50231595, 50231616-50231640, 50231994-50231996, 50232027-50232032, 50232035, 50232226-50232277, 50232305, 50232312, 50232317, 50232334-50232337
575HYAL130.999235474006121130850339615
576HESX130.99283154121864455857232229-57232232
577FLNB30.9987194263029810780957994407-57994413, 57994534-57994536
578ATXN730.9277660324172205283863898291-63898305, 63898320-63898346, 63898385, 63898388-63898399, 63898401-63898405, 63898431-63898556, 63898570-63898588
579PROK230.98717948717949539071834148-71834152
580ROBO230.9746192893401105413777147309, 77600060-77600061, 77629181-77629184, 77637902-77637930, 77637937-77637988, 77638033-77638040, 77638059-77638060, 77638075-77638080, 77645858
581GBE130.9924134660976816210981692006-81692010, 81692024-81692030, 81692082-81692084, 81698087
582PROS130.9798129000492441203193596018, 93605199-93605205, 93615435-93615441, 93617388-93617413
583ARL13B30.82828282828283221128793758777-93758780, 93758823-93758832, 93761859-93761894, 93761905-93761920, 93761928-93761954, 93761967-93762084, 93768255-93768256, 93768269-93768271, 93768315-93768317, 93768359, 93769736
584CPOX30.89450549450549144136598304432-98304434, 98307565-98307576, 98307583, 98307662, 98309871-98309882, 98311861, 98311875-98311885, 98312136-98312163, 98312176-98312205, 98312220-98312264
585HGD30.9992526158445411338120352095
586ACAD930.999464094319411866128622922
587RHO30.9923591212989581047129251465, 129251529-129251535
588NPHP330.882794891059354683993132400806, 132402318, 132403443-132403454, 132405113-132405125, 132409433-132409474, 132409484-132409494, 132410081, 132411600-132411648, 132413731, 132418209, 132418216-132418224, 132418227, 132418231, 132418779-132418793, 132418808, 132418856, 132419287, 132420309-132420317, 132427003, 132431995, 132432058, 132435616-132435617, 132435675-132435681, 132435685-132435708, 132435727, 132435741, 132435744-132435753, 132437844, 132437856, 132437873, 132437877, 132437983-132437988, 132438549-132438609, 132438620-132438656, 132438672-132438674, 132440838-132440839, 132440848-132440850, 132440854-132440856, 132440896-132440899, 132440978-132441017, 132441028-132441034, 132441045-132441053, 132441055, 132441063-132441109, 132441122-132441131, 132441136-132441137, 132441149, 132441156-132441164, 132441169
589PCCB30.9956790123456871620136012686, 136019952-136019953, 136045709-136045712
590FOXL230.95667550839965491131138664475, 138664486, 138664612-138664614, 138664667, 138664803-138664806, 138664830-138664840, 138664863-138664890
591PLOD230.99077733860343212277145788611, 145789190-145789196, 145794572-145794584
592GFM130.9968971631205772256158362438-158362444
593IFT8030.999570446735412328160018809
594BCHE30.998341625207331809165491196, 165491229-165491230
595SLC2A230.96634920634921531575170715703-170715704, 170716925, 170723195-170723232, 170723738-170723742, 170723752-170723754, 170723782, 170723857-170723858, 170725014
596DNAJC1930.9515669515669517351180702487, 180704731-180704732, 180705818-180705819, 180705988-180705993, 180706006, 180706009-180706013
597MCCC130.99494949494949112178182735105, 182737973-182737982
598KLHL630.97909967845659391866183209866-183209896, 183209949-183209954, 183209957, 183226083
599EIF2B530.9995383194829212166183861243
600ALG330.9977220956719831317183960401, 183966617, 183966624
601CLCN230.9996292176492412697184070086
602TP6330.999021047479222043189526098, 189590708
603OPA130.999671916010513048193365894
604CPN230.97985347985348331638194061794-194061806, 194061906, 194061912-194061916, 194061953, 194062172, 194062181, 194062193-194062198, 194062201, 194062210, 194062519, 194062565, 194063021
605PDE6B40.9968810916179382565663889-663896
606IDUA40.1549439347604516581962980873-981030, 981597-981737, 994400-994408, 994420-994470, 994478-994485, 994676-994688, 994701-994777, 995271-995284, 995291-995351, 995467-995496, 995504-995557, 995569-995571, 995586-995593, 995604-995627, 995632, 995639, 995651-995661, 995770-995772, 995776-995787, 995815-995824, 995830, 995856, 995860, 995872-995949, 996057-996100, 996109-996130, 996165-996273, 996520-996527, 996535-996537, 996540-996614, 996627-996732, 996824-996945, 997133-997258, 997337-997413, 997800-997816, 997837-997874, 997888-997894, 998048-998181
607FGFR340.39390193654718147124271795662-1795664, 1795666-1795668, 1795677-1795708, 1795719-1795730, 1795734, 1795738, 1795747, 1800981-1801127, 1801134-1801211, 1801220-1801250, 1801474, 1801478-1801486, 1801490-1801491, 1801510, 1803094-1803126, 1803142-1803208, 1803219-1803220, 1803240-1803263, 1803349-1803385, 1803395-1803470, 1803563-1803569, 1803579, 1803590-1803612, 1803639-1803645, 1803657, 1803661, 1803691-1803705, 1803712-1803713, 1803717-1803719, 1803741-1803742, 1804685-1804694, 1804714, 1804724-1804741, 1804782-1804785, 1804790, 1806057-1806087, 1806151, 1806155-1806179, 1806224, 1806228, 1806558-1806593, 1806641-1806655, 1806658-1806684, 1807083-1807091, 1807096, 1807115-1807161, 1807184-1807185, 1807286-1807298, 1807336, 1807339-1807342, 1807345-1807348, 1807351-1807353, 1807364, 1807374-1807396, 1807480-1807523, 1807549, 1807552, 1807570, 1807605-1807619, 1807659, 1807778-1807900, 1807984-1808000, 1808038-1808053, 1808273-1808401, 1808556-1808566, 1808574-1808661, 1808846-1808878, 1808884-1808956, 1808968-1808972, 1808979-1808989
608SH3BP240.990845449649971718572819966-2819977, 2820015, 2820022-2820023, 2820028, 2831545
609HTT40.9819705164916717094293076600-3076603, 3076604-3076707, 3076713-3076740, 3138051, 3142366, 3144608-3144613, 3213789-3213798, 3213804, 3240552, 3240555-3240560, 3240666-3240673
610DOK740.5900990099009962115153465148-3465156, 3465233-3465255, 3465260, 3475139, 3475142-3475145, 3475158, 3475303-3475315, 3475321-3475322, 3478069-3478120, 3478138-3478269, 3487272-3487299, 3487343, 3494565, 3494569-3494570, 3494578-3494585, 3494597-3494598, 3494610-3494659, 3494665-3494695, 3494710-3494778, 3494816-3494860, 3494892, 3494942-3494983, 3494994-3495072, 3495095, 3495108, 3495111-3495113, 3495144-3495145, 3495159, 3495162, 3495214-3495228
611DOK740.441624365482233305913494565, 3494569-3494570, 3494578-3494585, 3494597-3494598, 3494610-3494659, 3494665-3494695, 3494710-3494778, 3494816-3494860, 3494892, 3494942-3494983, 3494994-3495072
612EVC240.995161701044051939275570285-5570291, 5710213-5710224
613EVC40.99060087277612829795713108-5713109, 5713141, 5713191-5713214, 5755542
614WFS140.99812944257389526736279183-6279186, 6293718
615SLC2A940.982747997535432816239998421-9998432, 9998522-9998523, 9998529, 10020652, 10022907, 10022991-10023001
616CC2D2A40.92021385975735388486315517491-15517510, 15518287-15518288, 15529078-15529083, 15530253, 15534878-15534885, 15538581-15538584, 15538652-15538655, 15538659-15538661, 15539637-15539645, 15539662, 15542460-15542465, 15542552-15542559, 15542570, 15542598, 15542602-15542605, 15554826-15554830, 15556702-15556707, 15558947-15558970, 15559003-15559011, 15559086, 15559111-15559112, 15560873-15560880, 15562192, 15562229, 15569058-15569098, 15570920, 15570978-15570981, 15571011, 15572030, 15575773-15575789, 15575838, 15581591-15581630, 15581712, 15581760, 15581764, 15589439, 15589480, 15591177, 15591199, 15591213-15591252, 15597713-15597743, 15597771-15597798, 15599085-15599088, 15601170, 15601224, 15601259-15601261, 15601304, 15601307-15601308, 15601319-15601322, 15601325-15601326, 15602881, 15602902, 15602924-15602940, 15602999-15603001, 15603015
617PROM140.997305619707477259816000086, 16014930, 16020011-16020015
618SGCB40.99895506792059195752899677
619PDGFRA40.999694189602451327055139829
620KIT40.998635278062094293155524241, 55599299, 55599303, 55599306
621ENAM40.96937882764654105342971497440-71497451, 71498372-71498387, 71498400-71498402, 71500037-71500048, 71500200-71500208, 71500247-71500249, 71500260-71500262, 71500277, 71500280, 71501549-71501578, 71503507-71503521
622SLC4A440.999086757990873328572215708-72215709, 72222886
623COQ240.9913419913419910115584205898-84205907
624PKD240.998968008255933290788928929-88928931
625MTTP40.9977653631284962685100504562-100504565, 100515957-100515958
626CISD240.68137254901961130408103806401, 103806439-103806470, 103806485-103806537, 103808506-103808522, 103808561-103808587
627CFI40.9988584474885821752110673658-110673659
628PITX240.991794871794878975111542411-111542414, 111542420, 111542423-111542425
629BBS740.99255121042831162148122782702-122782705, 122782752-122782763
630MFSD840.72768143866414241557128841785-128841825, 128841845, 128841883-128841929, 128841938-128841954, 128841984, 128841988-128841991, 128842697-128842735, 128842752-128842762, 128842786-128842788, 128842798-128842834, 128842851-128842867, 128842872, 128842882, 128842897, 128842900-128842905, 128843015-128843083, 128851838-128851841, 128851934, 128851953-128851956, 128851961-128851962, 128854140-128854145, 128854163, 128859938-128859945, 128859949-128859969, 128859978-128859993, 128861073-128861095, 128861127-128861137, 128863236, 128864939, 128878657-128878685
631CTSO40.9813664596273318966156850794, 156850848, 156863499-156863506, 156863548-156863554, 156874990
632GLRB40.98728246318608191494158041708-158041725, 158060073
633GK40.99157641395909141662166199345, 166199389, 166199600-166199610, 166199939
634SLC25A440.998885172798221897186067016
635F1140.96219382321619711878187188291-187188302, 187192808, 187196942, 187197406-187197411, 187197467, 187205295-187205344
636SDHA50.97293233082707541995218504, 233706-233712, 236673-236681, 251173-251179, 251505-251511, 251562-251568, 254606-254621
637SLC6A1950.31601049868766130319051201766-1201967, 1208861-1208924, 1208959, 1208962-1209001, 1210559-1210579, 1210587-1210696, 1212418-1212434, 1212457-1212537, 1212544-1212590, 1213578-1213688, 1214068-1214180, 1216683-1216698, 1216720, 1216740-1216801, 1216915-1216926, 1216932-1216938, 1216965-1216975, 1217024-1217060, 1219022-1219069, 1219082-1219084, 1219121-1219155, 1219163-1219171, 1219184-1219194, 1219199, 1219211-1219213, 1219620-1219651, 1219661-1219774, 1221271-1221315, 1221369, 1221399-1221428, 1221820, 1221828, 1221876, 1221887, 1221896, 1221912-1221920, 1221924, 1221928, 1221981, 1221984
638TERT50.7102088849661798533991253878, 1253908, 1253915-1253922, 1253934, 1254504-1254539, 1254555-1254570, 1254588, 1254602-1254603, 1255419, 1255423, 1255491-1255521, 1258713-1258774, 1264519-1264527, 1264555-1264565, 1264569-1264580, 1264592, 1264601-1264619, 1264646-1264690, 1266589-1266603, 1266608-1266613, 1266618-1266626, 1266648, 1268635-1268732, 1268740-1268748, 1271234-1271319, 1272300-1272395, 1278756-1278757, 1278783-1278784, 1278822, 1278851-1278852, 1279421-1279456, 1279477-1279488, 1279503-1279561, 1279575-1279577, 1279581, 1280297-1280330, 1280348-1280388, 1280445, 1294248, 1294258, 1294261-1294264, 1294286, 1294296-1294297, 1294310-1294311, 1294371-1294379, 1294567-1294574, 1294577-1294581, 1294637-1294649, 1294675-1294708, 1294722-1294751, 1294767-1294781, 1294927, 1294947, 1294983, 1294996-1295038, 1295042, 1295045, 1295058-1295096, 1295104
639SLC6A350.8228663446054833018631406320, 1409171, 1409175, 1409836-1409846, 1409907-1409917, 1409930, 1409933, 1409936, 1409943-1409957, 1411368-1411415, 1414825-1414840, 1414866-1414892, 1414907, 1414911, 1416238-1416242, 1420684-1420704, 1420713-1420722, 1420737, 1420747-1420753, 1420764, 1420772, 1420789-1420805, 1421991-1421999, 1422018-1422129, 1432579-1432581, 1432608, 1432638-1432640, 1432708, 1443152-1443153
640SDHA50.9785932721712573271593261-1593267
641NDUFS650.9786666666666783751801557-1801564
642MTRR50.99862258953168321787897324-7897326
643CCT550.994464944649459162610250485-10250491, 10250547, 10254798
644DNAH550.98760360360361721387513737456, 13737460, 13753518-13753524, 13759087-13759092, 13766207-13766208, 13769234, 13769637-13769638, 13769657-13769659, 13769688, 13769691, 13769704, 13769715, 13769718, 13771052-13771063, 13788886, 13788991-13788997, 13792103-13792112, 13792166-13792192, 13792264-13792266, 13793800-13793801, 13794073-13794075, 13794087, 13794141-13794145, 13900432, 13901495, 13901535-13901538, 13901653-13901662, 13902220, 13913870, 13913873, 13916470-13916489, 13916527-13916528, 13917252-13917253, 13922236-13922256, 13923405, 13923480-13923482, 13923545-13923549
645ANKH50.993914807302239147914769100-14769106, 14871492, 14871502
646AMACR50.9843342036553518114933998753-33998755, 33998768, 34007995-34008001, 34008097-34008103
647NIPBL50.999762329174092841536975930, 36976370
648OXCT150.9686500319897649156341807447-41807495
649GHR50.9655712050078266191742629140-42629205
650ITGA250.9870276367738346354652322634-52322635, 52322647-52322650, 52379212-52379217, 52382868, 52385785, 52385878, 52386367, 52386383-52386384, 52386402-52386429
651MOCS250.897707231040565856752396253, 52396311-52396318, 52396342-52396344, 52396362-52396364, 52397279, 52397973-52398002, 52398024-52398035
652MOCS250.94382022471911526752405544-52405558
653ERCC850.916876574307399119160186736-60186770, 60186803, 60186806-60186807, 60186819, 60194121, 60199517, 60199523-60199527, 60200639-60200690, 60214128
654NDUFAF250.960784313725492051060448587-60448606
655SMN250.980790960451981788569362945-69362961
656SMN250.980790960451981788570238369-70238385
657MCCC250.9929078014184412169270883253-70883263, 70883349
658HEXB50.999401555954521167173981233
659AP3B150.9914764079147628328577330217, 77330220, 77334915-77334916, 77334970, 77334975, 77563379-77563400
660ARSB50.9787765293383334160278281029-78281062
661VCAN50.99411245216367601019182817352, 82833452-82833454, 82833932, 82833981-82833990, 82834299, 82834319-82834341, 82834874, 82834878-82834880, 82834885, 82836258-82836262, 82836345-82836351, 82836550, 82836742, 82837812, 82841428
662GPR9850.99846731145288291892189914969-89914975, 89923386-89923389, 89924524-89924529, 90144602-90144605, 90144609, 90149962, 90151608, 90151673-90151674, 90281222, 90445988-90445989
663WDR3650.9996498599439812856110454771
664APC50.9997655883731828532112111369, 112111372
665ALDH7A150.98765432098765201620125890006-125890021, 125904023, 125918586, 125918610, 125918621
666LMNB150.96252129471891661761126113207-126113249, 126113354-126113363, 126113463-126113474, 126113484
667FBN250.99427852156997508739127637115, 127638738, 127638741, 127644992-127645001, 127645731-127645732, 127863613-127863617, 127873127, 127873268-127873296
668TGFBI50.98099415204678392052135392370-135392408
669MATR350.868317610062893352544138643105, 138643133, 138643145, 138643159-138643162, 138643187-138643234, 138643295, 138643322, 138643405-138643414, 138643588-138643604, 138643679, 138643692-138643693, 138643892-138643896, 138643953, 138650421, 138651790, 138651800-138651801, 138651852, 138653352, 138653399-138653407, 138657587-138657591, 138657607-138657627, 138657682, 138658152-138658180, 138658287-138658313, 138658343-138658400, 138658413, 138658422-138658431, 138658436-138658438, 138658444, 138658453-138658460, 138658464, 138658484-138658519, 138658545, 138658548-138658552, 138658598, 138658619, 138658642, 138661885, 138665034-138665035, 138665048-138665061
670SPINK550.9975646879756583285147475456-147475462, 147477488
671ADRB250.9991948470209311242148207447
672TCOF150.99517906336088214356149755068, 149755811, 149755823-149755825, 149771665, 149771669-149771670, 149773107-149773108, 149775974-149775978, 149775982, 149776036, 149776053-149776055, 149778000
673GM2A50.998281786941581582150639439
674ITK50.98819108964036221863156649922-156649928, 156649979-156649992, 156659363
675NIPAL450.9935760171306291401156887228-156887230, 156887233, 156887352-156887355, 156887360
676IL12B50.998986828774061987158747407
677GABRA150.996353026987651371161292745-161292749
678GABRG250.99031007751938151548161529560-161529574
679MSX250.8781094527363298804174151713-174151742, 174151754, 174151757, 174151767-174151773, 174151823-174151868, 174156322, 174156431, 174156536-174156546
680NSD150.99802249412928168091176562294-176562305, 176562351, 176562885-176562887
681F1250.9398625429553335582176830267-176830301
682F1250.943722943722941041848176830267-176830301, 176830502-176830504, 176830536-176830562, 176830575-176830592, 176830618, 176830887, 176830930-176830936, 176831024, 176831042, 176831050, 176831197, 176831221, 176831567-176831568, 176831586, 176831617-176831619, 176831627
683GRM650.9981017463933252634178413684, 178421667, 178421685-178421687
684SQSTM150.923658352229781011323179247992, 179247995-179248035, 179248043-179248084, 179248122, 179250035-179250039, 179250049, 179260118, 179260138-179260139, 179260669-179260675
685FLT450.306940371456528364092180043367-180043396, 180043432-180043449, 180043477-180043489, 180043979, 180045770-180045862, 180045871-180045920, 180046021-180046109, 180046253-180046291, 180046313-180046324, 180046340-180046366, 180046665-180046769, 180047173-180047219, 180047229, 180047243-180047301, 180047308, 180047609-180047715, 180047876-180048007, 180048106-180048189, 180048205, 180048216-180048224, 180048228-180048238, 180048252, 180048542-180048563, 180048594-180048657, 180048668-180048669, 180048679-180048706, 180048725-180048801, 180048824-180048837, 180048856-180048904, 180049731-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053228, 180053236-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
686FOXC160.9097472924187715016621610713-1610728, 1610761-1610794, 1610846-1610850, 1611184-1611186, 1611191, 1611194, 1611198, 1611307-1611310, 1611338-1611351, 1611420-1611435, 1611462-1611479, 1611502-1611504, 1611519-1611520, 1611543-1611560, 1611641-1611649, 1611705-1611706, 1612018-1612020
687TUBB2B60.5852017937219755513383224992-3225015, 3225027-3225070, 3225085-3225141, 3225151-3225157, 3225186, 3225216, 3225227-3225298, 3225308-3225316, 3225319-3225330, 3225340, 3225364, 3225367, 3225385, 3225421-3225427, 3225434-3225499, 3225511-3225543, 3225592, 3225689, 3225711-3225750, 3225783-3225810, 3225843, 3225846-3225847, 3225852, 3225855, 3225867, 3225931, 3225935, 3225951-3225989, 3226017-3226018, 3226024, 3226034-3226038, 3226423-3226449, 3226470-3226503, 3226803-3226807, 3226852, 3226862-3226883, 3227759-3227762
688F13A160.963165075034118121996167808-6167809, 6167820, 6174813-6174814, 6174817, 6174845, 6174866, 6174902-6174927, 6175043-6175053, 6196118, 6222312, 6222368-6222374, 6224931-6224934, 6248547, 6248599-6248612, 6248648-6248651, 6251092-6251093, 6266908-6266909
689DSP60.995473537604463986167555951-7555961, 7555996-7556001, 7558355, 7565696-7565707, 7568682, 7579636-7579642, 7583745
690DTNBP160.997159090909093105615663071-15663073
691ATXN160.95669934640523106244816306619-16306620, 16306731, 16306859-16306862, 16306866, 16327862-16327959
692ALDH5A160.9611414693381964164724495225, 24495249, 24495268, 24495290-24495293, 24495345-24495367, 24495376-24495406, 24495433, 24495440-24495441
693HFE60.9751671442215926104726087714, 26091774, 26091777-26091799, 26091817
694HLA-H60.981575029855817-29855821, 29856406, 29856415, 29856418, 29856510-29856516
695NEU160.999198717948721124831829830
696CFB60.999736911339121380131911522
697TNXB60.85847589424572273192931976410-31976416, 31976840, 31976844, 31976929, 31977054-31977082, 31977511, 31977514, 31977581, 31977605-31977645, 31977766, 31977769, 31977817, 31977864-31977874, 31978003-31978004, 31978025, 31978227, 31978236, 31978348, 31978358, 31978494-31978535, 31979359-31979370, 31979385-31979430, 31979440-31979484, 31979549-31979560, 31979597, 31979614, 31979624-31979632, 31979937
698CYP21A260.83400537634409247148832006200-32006262, 32006291-32006303, 32006312, 32006400, 32006499-32006504, 32006871-32006890, 32006902, 32006913, 32006918-32006923, 32006948, 32006966, 32007018, 32008183-32008201, 32008724, 32008733, 32008741-32008770, 32008796-32008833, 32008865-32008907
699TNXB60.972896535470193451272932009133, 32009197-32009198, 32009204, 32009664, 32009672-32009696, 32009813-32009814, 32009851-32009860, 32009863, 32009882, 32009887, 32009891-32009892, 32009896, 32009912, 32010239-32010289, 32010307, 32010315, 32010339-32010379, 32010503, 32010541-32010557, 32010737-32010738, 32010759, 32010961, 32010970, 32011082, 32011085-32011092, 32011228-32011269, 32011302, 32012213-32012224, 32012262, 32012281, 32012300-32012336, 32012358, 32012411, 32012466-32012468, 32012475, 32012791, 32012962, 32013069-32013073, 32014065, 32020693, 32023874, 32024600, 32024642, 32026089, 32029205-32029207, 32029322-32029324, 32029335-32029338, 32032613-32032633, 32032866, 32032869, 32035490, 32036170, 32036186, 32036821-32036840, 32039871
700HLA-DQA160.986979166666671076832609329, 32609779, 32609783, 32609789, 32609852-32609855, 32609859, 32610009
701COL11A260.999232393014784521133143381-33143384
702SYNGAP160.982886904761969403233388042-33388108, 33393633, 33393636
703RPS1060.975903614457831249834392567-34392578
704FANCE60.999379267535691161135423640
705TULP160.9650092081031357162935479574, 35479958-35479970, 35479983-35480022, 35480435, 35480438, 35480444
706MOCS160.79120879120879399191139893422-39893451, 39893463-39893537, 39893546-39893589, 39895068-39895317
707RSPH960.885679903730459583143612843-43612847, 43612852-43612855, 43612860-43612862, 43612874-43612888, 43612925-43612959, 43612984-43613010, 43613019-43613021, 43613025-43613027
708RUNX260.9578544061302766156645390463-45390527, 45480104
709MUT60.997336884154466225349409562-49409564, 49409573-49409575
710PKHD160.9994274028629971222551909781-51909785, 51913405, 51915033
711EYS60.999894011658721943566094378
712LMBRD160.998767714109672162370447842, 70447884
713COL9A160.9953000723065813276670991126-70991133, 71004090, 71009877-71009878, 71010045, 71010049
714RIMS160.998621775940157507972889493, 73001689, 73017029-73017032, 73023321
715SLC17A560.999327956989251148874304816
716LCA560.9360076408787134209480196737, 80203376, 80222980, 80223041, 80223045-80223068, 80223118, 80223257, 80223279, 80223292-80223302, 80223341, 80223357-80223363, 80223376, 80223392, 80223426-80223449, 80228422-80228446, 80228460-80228483, 80228518, 80228527-80228531, 80228605, 80228610-80228611
717SIM160.937853107344631432301100838247-100838254, 100838303-100838312, 100838449, 100838457, 100838467, 100838477, 100838488-100838489, 100838611-100838642, 100838687-100838728, 100838798-100838841, 100841371
718PDSS260.997531200107780260, 107780300-107780301
719FIG460.999632892804712724110037652
720RSPH4A60.9995350999535112151116944040
721LAMA260.9998931966250119363129722425
722ENPP160.99316054715623192778132172381-132172392, 132186074, 132189162, 132189166-132189169, 132195417
723EYA460.9875241920133783477, 133783532-133783550, 133783594, 133783902, 133827246-133827247
724PEX760.995884773662554972137143917, 137167211-137167213
725IFNGR160.97074829931973431470137524712-137524729, 137525487, 137525491-137525492, 137525528, 137525539, 137527399, 137527404-137527420, 137528199-137528200
726PEX360.97682709447415261122143784053-143784060, 143792111-143792112, 143792115-143792123, 143792184, 143792706, 143792709, 143793403, 143793413-143793414, 143793438
727STX1160.9432870370370449864144507841-144507868, 144507942-144507946, 144508104, 144508266, 144508272-144508282, 144508302, 144508587, 144508597
728EPM2A60.9598393574297240996146056350-146056353, 146056475-146056476, 146056589-146056622
729SYNE160.999280139425631926394152454426, 152725374-152725382, 152751617-152751623, 152751652, 152751670
730TBP60.897058823529411051020170871009-170871023, 170871031-170871069, 170871076, 170871079, 170871082, 170871085-170871088, 170871097-170871131, 170871135, 170871138-170871145
731LFNG70.471929824561460211402559496-2559690, 2559697-2559927, 2564338-2564345, 2564353-2564359, 2564873, 2564888, 2564892, 2564928, 2565059-2565107, 2565112-2565131, 2565157, 2565396-2565397, 2565400-2565404, 2565878-2565891, 2565909, 2565920-2565932, 2566481-2566486, 2566495, 2566500, 2566535-2566555, 2566780-2566789, 2566798-2566803, 2566806, 2566810-2566812, 2566815, 2566839, 2566846
732PMS270.99034376207032525896013099-6013121, 6026607, 6026988
733TWIST170.750410509031215260919156567, 19156571, 19156683-19156687, 19156691, 19156696, 19156762-19156763, 19156782-19156783, 19156786, 19156789-19156883, 19156897-19156907, 19156909-19156911, 19156914-19156942
734DNAH1170.9991895078102111357221923909-21923917, 21924013-21924014
735KLHL770.997160704145375176123191741-23191744, 23207494
736HOXA1370.85347043701799171116727239206, 27239295, 27239306-27239307, 27239310, 27239322-27239367, 27239382-27239385, 27239390-27239422, 27239444-27239468, 27239508, 27239518, 27239526-27239579, 27239611-27239612
737BBS970.9962462462462510266433192409, 33195314, 33423282, 33423357, 33423360-33423364, 33423428
738TXNDC370.997170345217885176737936512-37936516
739GCK70.84511063526053217140144186064-44186123, 44186216, 44187260-44187264, 44187268, 44187292-44187314, 44187362, 44189359-44189364, 44189398, 44189653, 44190649, 44190664, 44191870-44191882, 44191926-44191960, 44192014-44192017, 44192905-44192913, 44192965-44192971, 44192992-44193035, 44193059-44193062
740CCM270.57378277153558569133545039933-45039962, 45104128-45104133, 45104159, 45104238, 45108072, 45108118-45108149, 45108175, 45109471, 45109491, 45109511-45109532, 45113059-45113111, 45113121-45113135, 45113142-45113170, 45113869-45114007, 45115376-45115435, 45115443-45115488, 45115526-45115656
741EGFR70.9903660886319835363355221765-55221772, 55223548-55223552, 55223592-55223594, 55227952-55227954, 55228009, 55229192-55229197, 55231465, 55233127, 55240795-55240800, 55266417
742GUSB70.82668711656442339195665429391, 65432835-65432877, 65439291, 65439338-65439383, 65439389-65439405, 65439539-65439540, 65439544-65439545, 65439562-65439563, 65439576, 65439583, 65439657-65439658, 65439665, 65439683-65439690, 65439933-65439980, 65440037, 65441049, 65441057, 65441168-65441183, 65444412-65444413, 65444420-65444423, 65444429, 65444441, 65444478, 65444519-65444528, 65444725, 65444729-65444749, 65444872-65444879, 65445211-65445248, 65445258-65445277, 65447052-65447089
743ASL70.5426523297491638139565546830, 65546836-65546854, 65546895-65546942, 65546973-65546984, 65547362-65547438, 65547881, 65547887, 65547921-65547923, 65548070-65548118, 65548133-65548134, 65548140-65548158, 65551572-65551590, 65551601-65551631, 65551731-65551772, 65551804-65551806, 65552328-65552329, 65552361-65552373, 65552716-65552729, 65552739-65552746, 65552753-65552754, 65552774-65552778, 65553827-65553836, 65553887-65553908, 65554079-65554080, 65554125-65554140, 65554147-65554155, 65554269-65554300, 65554306-65554308, 65554320-65554322, 65554599-65554602, 65554661-65554682, 65556993-65557018, 65557058-65557072, 65557544-65557599, 65557626-65557629, 65557638, 65557755-65557762, 65557783-65557784, 65557794, 65557840-65557854, 65557884-65557899
744KCTD770.945977011494254787066094072-66094091, 66094125-66094140, 66094161, 66094175-66094184
745NCF170.978181818181821882572639983-72639989, 72640033-72640039, 72643630, 72644264, 72648700-72648701
746ELN70.93103448275862150217573442518-73442570, 73442575-73442576, 73442579, 73442588-73442593, 73462862, 73462865, 73466154, 73466159, 73466263, 73466266-73466267, 73466273, 73466276-73466289, 73466296, 73467540-73467602, 73477483-73477484
747NCF170.86700767263427156117374191613-74191614, 74193639-74193671, 74197308-74197314, 74197911-74197948, 74202380-74202381, 74202903-74202938, 74202989-74203026
748POR70.86441507586882277204375613097, 75613172-75613174, 75614123-75614165, 75614198-75614270, 75614383, 75614430-75614431, 75614434, 75614470-75614512, 75614523-75614525, 75614921-75614923, 75614926, 75614953, 75614986-75615019, 75615036, 75615042, 75615059-75615102, 75615157, 75615160, 75615164, 75615264, 75615287, 75615290, 75615328, 75615381-75615386, 75615513-75615516, 75615744-75615748
749CD3670.998590556730092141980302155, 80302694
750ABCB470.998697916666675384087031481-87031485
751AKAP970.984646878198571801172491630252, 91630567-91630576, 91630579, 91631993, 91660883-91660886, 91682049-91682050, 91682056, 91682073-91682109, 91682156-91682195, 91682213-91682235, 91690574-91690599, 91690616-91690626, 91690678-91690680, 91690684-91690689, 91691661, 91691681, 91691705, 91691748, 91694622-91694626, 91700308, 91706255, 91708458, 91708543, 91709417
752COL1A270.999268471104613410194030927, 94050354, 94056324
753SLC25A1370.999507631708521203195751307
754SLC26A570.9995525727069412235103061242
755RELN70.9522019851594949610377103123339-103123349, 103123377-103123386, 103123411-103123412, 103123416-103123418, 103124106-103124113, 103124138-103124170, 103124186-103124227, 103124249-103124284, 103126644-103126658, 103126665-103126717, 103126745-103126770, 103126800-103126852, 103130197-103130233, 103130283-103130289, 103130320-103130346, 103131225, 103132425, 103132472-103132473, 103136286-103136304, 103137007-103137015, 103138327, 103141200, 103141235, 103141321, 103143490-103143496, 103143508, 103143565, 103175766, 103175837, 103179590-103179592, 103179656-103179660, 103180665-103180667, 103180670, 103180696-103180721, 103180822-103180828, 103185678, 103185715-103185717, 103191551-103191556, 103191637-103191658, 103193938-103193941, 103197573-103197575, 103244849, 103368633
756SLC26A470.99445155783184132343107303829-107303838, 107314668, 107314682, 107314717
757SLC26A370.9995642701525112295107432365
758MET70.99688473520249134173116339587-116339599
759CFTR70.959711906369571794443117120178, 117188713-117188753, 117188760-117188800, 117188842-117188853, 117232037-117232041, 117232046, 117232109, 117232128, 117232231-117232248, 117234991-117234992, 117235003-117235058
760AASS70.921970514203522172781121718943, 121718982, 121726121, 121731832-121731845, 121732982-121733003, 121733187, 121738513-121738533, 121738626, 121738807-121738808, 121741447-121741452, 121741456-121741457, 121766443-121766449, 121769419-121769425, 121769444-121769484, 121769491-121769542, 121769554-121769591
761LEP70.994047619047623504127894679, 127894694, 127894698
762IMPDH170.97944444444444371800128038554-128038555, 128045868-128045873, 128045881, 128049826-128049853
763FLNC70.99351919784788538178128470787, 128477252-128477300, 128483474-128483476
764BRAF70.930465015210781602301140449123, 140476729, 140477801-140477838, 140481387-140481423, 140481434-140481439, 140481464-140481470, 140482847-140482877, 140482928, 140494118-140494119, 140494180-140494206, 140501354, 140624404-140624410, 140624420
765PRSS170.998655913978491744142460313
766CNTNAP270.9997497497497513996146825887
767KCNH270.97758620689655783480150671855, 150671858, 150674926-150675001
768PRKAG270.94912280701754871710151269757-151269759, 151269770-151269795, 151271986-151272033, 151329195-151329202, 151329205, 151329217
769SHH70.892008639308861501389155595594, 155595606-155595640, 155595772-155595807, 155595846-155595848, 155595851, 155595855, 155595866-155595868, 155595887-155595900, 155595926, 155595932-155595947, 155596048-155596058, 155596146-155596154, 155596184, 155596283-155596300
770MNX170.805140961857382351206156799256-156799275, 156802402, 156802520-156802521, 156802605, 156802661-156802753, 156802797-156802841, 156802870-156802919, 156802960-156802974, 156802981, 156803009, 156803016-156803020, 156803041
771CLN880.9930313588850268611719459-1719463, 1728719
772MCPH180.979665071770335125086264196-6264201, 6266842-6266858, 6266864-6266866, 6272390, 6272398, 6289095-6289101, 6302635-6302649, 6338306
773GATA480.996237772761475132911566176-11566180
774ESCO280.973421926910348180627650267-27650309, 27657130-27657132, 27657173-27657174
775FGFR180.99959399106781246338277096
776ADAM980.999593495934961246038854671
777ANK180.9942044257112733569441530221-41530232, 41530268, 41530281, 41530349-41530355, 41559606-41559612, 41583418-41583421, 41585438
778THAP180.5124610591900331364242693105-42693109, 42693126-42693127, 42693161-42693192, 42693235-42693271, 42693301-42693314, 42693323-42693373, 42693393-42693397, 42693417-42693429, 42693433, 42693442-42693443, 42693460-42693479, 42694344-42694366, 42694387-42694388, 42694405, 42694414, 42694418-42694421, 42694455-42694465, 42694486-42694507, 42694518-42694524, 42698167-42698168, 42698180-42698237
779HGSNAT80.989517819706520190842995682, 42995689-42995704, 42995715, 42995729, 42995754
780RP180.999845464379541647155534679
781CHD780.99966644429623899461713046-61713048
782CYP7B180.999342537804081152165528493
783DECR180.926587301587374100891054972, 91054983, 91057077-91057088, 91057113-91057116, 91057140-91057159, 91057178-91057213
784TMEM6780.992971887550221298894777694-94777703, 94777827-94777834, 94784850, 94784859, 94827558
785GDF680.996345029239775136897157326, 97157410-97157411, 97157464, 97157566
786VPS13B80.9899116224779112111994100108584-100108586, 100286483, 100287409, 100287456-100287457, 100287462-100287463, 100673624, 100789036, 100789111, 100791020, 100791163, 100829844-100829851, 100831056-100831080, 100831802, 100833657, 100844701, 100844745-100844758, 100844785-100844799, 100844850, 100844854-100844856, 100847462, 100847476, 100847544, 100847864-100847870, 100847919-100847928, 100861027, 100861032-100861033, 100861048-100861049, 100861053-100861054, 100861068, 100871674, 100874136-100874142, 100880676-100880677
787GRHL280.9952076677316391878102555624-102555632
788RRM2B80.9990530303030311056103220363
789EXT180.9941990182954132241118812126, 118812129, 118817003-118817007, 118817070, 118819456, 118819516, 118819524-118819525, 118819578
790TNFRSF11B80.99170812603648101206119945287-119945295, 119964052
791KCNQ380.9996181748759112619133142115
792TG80.9989165763813798307133984984-133984986, 133995604-133995609
793NDRG180.9991561181434611185134251214
794SLURP180.125273312143822561-143822694, 143823221-143823237, 143823256-143823260, 143823282-143823340, 143823746-143823803
795CYP11B180.9993386243386211512143960597
796CYP11B280.773809523809523421512143993405, 143993408, 143993474-143993505, 143993946-143993969, 143993988-143994032, 143994064-143994082, 143994100-143994120, 143994266, 143994279, 143994701-143994730, 143994803-143994822, 143995789-143995812, 143996314, 143996595-143996625, 143998532-143998548, 143998582, 143998615, 143999032-143999038, 143999054-143999112, 143999125, 143999135, 143999138, 143999150, 143999190, 143999196
797PLEC80.9398078975453684614055144996227-144996286, 144996543, 144997101-144997103, 144997467, 144997858-144997861, 144997887, 144998038, 144998251, 144998469-144998473, 144998639, 144998679, 144998732, 144998785-144998794, 144998907-144998979, 144999054-144999061, 144999082, 144999093-144999100, 144999107, 144999132-144999174, 144999234-144999239, 144999281-144999290, 144999385, 144999444, 144999478, 144999484, 144999492-144999496, 144999538, 144999541, 144999547, 144999575, 144999580, 144999708-144999711, 144999715, 144999758-144999764, 144999796, 144999808, 144999867-144999869, 144999874, 144999877, 144999884, 144999887, 145001226, 145001864-145001877, 145003582-145003593, 145003816-145003841, 145003934, 145004123-145004129, 145004316-145004349, 145004380-145004387, 145004678, 145006124-145006130, 145006139-145006200, 145006300-145006325, 145006335-145006343, 145006370, 145006568, 145006608-145006624, 145006849, 145006857, 145006878, 145006967, 145007008-145007022, 145007163-145007171, 145008177-145008179, 145008247, 145008506-145008529, 145008545-145008550, 145008816-145008819, 145008993-145008999, 145009003, 145009007, 145009033-145009064, 145009077-145009097, 145009179-145009190, 145009231-145009261, 145009381, 145009416-145009458, 145010016-145010029, 145010039-145010059, 145010095-145010096, 145010123, 145010128, 145010131, 145010142-145010151, 145010164-145010182, 145011205-145011239, 145011336-145011355, 145012342, 145012349, 145024512, 145024864, 145024870
798GPT80.2085848423876611801491145729708-145729722, 145729732-145729746, 145729763-145729822, 145729830-145729832, 145729836, 145729841, 145729844-145729849, 145729987-145729993, 145730031-145730038, 145730046, 145730069-145730076, 145730154-145730160, 145730261-145730262, 145730381-145730405, 145730425-145730482, 145730488-145730514, 145730629-145730861, 145730872, 145731231-145731310, 145731378-145731457, 145731463-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732169, 145732194-145732226, 145732293-145732348, 145732361, 145732371-145732383
799RECQL480.3214778053487724613627145736814-145736938, 145737064-145737123, 145737143-145737172, 145737301-145737450, 145737527-145737707, 145737775-145737802, 145737813-145737944, 145738025-145738109, 145738120-145738154, 145738230-145738255, 145738261-145738521, 145738606-145738768, 145738770-145738864, 145738955-145739047, 145739056-145739096, 145739312-145739341, 145739351-145739406, 145739448-145739490, 145739598, 145739630, 145739670-145739702, 145739719, 145739733-145739738, 145739869, 145739886, 145739889-145739891, 145739906-145739909, 145740320-145740364, 145740413-145740454, 145740534-145740600, 145740612-145740626, 145740722, 145740729-145740732, 145740738-145740743, 145740768-145740803, 145740837-145740841, 145741152, 145741262-145741264, 145741376-145741409, 145741431-145741450, 145741537-145741560, 145741585-145741586, 145741592, 145741620-145741665, 145741721-145741752, 145741765, 145741804-145741847, 145741864-145741900, 145741931-145741954, 145741959-145741988, 145742007, 145742010-145742019, 145742042, 145742045-145742049, 145742071, 145742078, 145742081, 145742092-145742096, 145742117-145742123, 145742148, 145742434, 145742441, 145742486-145742511, 145742514, 145742528, 145742531-145742534, 145742554-145742574, 145742798-145742834, 145742841, 145742847, 145742863-145742892, 145743000-145743014, 145743085-145743168
800DOCK890.975396825396831556300396798-396821, 396858-396876, 396918, 396928, 399146-399152, 399160, 399175-399207, 399230-399246, 429719-429723, 429778, 446463, 446579-446606, 449920, 452034-452042, 452045-452051
801VLDLR90.99885583524027326222622223, 2652948-2652949
802GLIS390.97028284998218327934117792-4117796, 4117890-4117901, 4117927, 4117940, 4117945-4117947, 4117955-4117956, 4117961, 4117965, 4118024-4118069, 4118111, 4118143, 4118148-4118149, 4118213-4118214, 4118227-4118230, 4118768
803JAK290.9629302736098912633995029824-5029829, 5029894, 5054857, 5064943-5064984, 5066716-5066744, 5069104, 5069121-5069158, 5070045-5070052
804GLDC90.994449885732941730636645387-6645395, 6645492-6645499
805TYRP190.9838909541511826161412694054-12694063, 12694078, 12694248, 12702366-12702374, 12702377, 12704620, 12704626-12704627, 12709158
806TOPORS90.99936265137032313832544232, 32544245
807GNE90.999557913351021226236246037
808TMC190.998685939553223228375303626-75303627, 75406943
809TRPM690.999505684626793606977376633, 77376647, 77415284
810VPS13A90.99947506561685952579981643-79981646, 79981651
811AUH90.999019607843141102094124158
812ROR290.9897598870056529283294485999-94486000, 94495424-94495448, 94495647-94495648
813SPTLC190.99437412095648142294843203-94843210
814FANCC90.998211091234353167797933362-97933363, 97933417
815PTCH190.96431860036832155434498209357, 98209503, 98209512, 98209515-98209524, 98209608, 98218674, 98231135, 98232126, 98268690, 98270472, 98270501-98270573, 98270581-98270643
816HSD17B390.974276527331192493399003153, 99003159-99003166, 99003179, 99007701-99007708, 99012043, 99013720, 99013737, 99015085-99015087
817XPA90.933090024330955822100437731, 100449406-100449407, 100449410, 100449474, 100451836-100451869, 100455931, 100455962-100455964, 100455971-100455974, 100455978, 100455981, 100456024-100456029
818FOXE190.96345811051693411122100616230, 100616694-100616696, 100616700-100616706, 100616786, 100616882, 100617116-100617143
819TGFBR190.9980158730158731512101867538-101867540
820ALG290.9392486011191761251101980276, 101980340, 101980572-101980578, 101980614-101980622, 101980685-101980711, 101980840-101980867, 101980901, 101981012, 101981118
821INVS90.963414634146341173198102988360-102988361, 102988365-102988372, 102988457-102988461, 102988464-102988468, 102988489, 102988508, 103009034-103009045, 103035343-103035349, 103046723-103046729, 103046758, 103054683-103054706, 103054727-103054759, 103054780, 103054905, 103055126, 103055170, 103055264-103055267, 103055310, 103059348, 103060253
822ALDOB90.9954337899543451095104189765, 104189768-104189771
823ABCA190.99498968464486346786107620812-107620824, 107620848-107620850, 107620896-107620909, 107620917, 107624011-107624012, 107624069
824MUSK90.877011494252873212610113530295-113530307, 113538068-113538070, 113538074-113538087, 113538117-113538136, 113538240-113538243, 113538927-113538935, 113547095-113547114, 113547147-113547194, 113547233, 113547259-113547279, 113547807-113547833, 113547842-113547876, 113547889-113547962, 113547987-113547998, 113550002-113550018, 113550116-113550118
825ALAD90.9667673716012133993116150599, 116153814, 116153823, 116155742-116155748, 116155817-116155839
826DFNB3190.98678414096916362724117240844-117240867, 117241014-117241015, 117266853, 117266862-117266866, 117266931-117266933, 117267046
827CDK5RAP290.99612812390004225682123253651, 123253664, 123253668-123253669, 123280762-123280779
828GSN90.99574286930609102349124064244-124064246, 124065269-124065275
829NR5A190.816738816738822541386127245156-127245190, 127255322-127255336, 127255368, 127255373, 127262369-127262371, 127262450, 127262509, 127262518, 127262551, 127262594-127262611, 127262716-127262759, 127262765, 127262796, 127262805, 127262811, 127262814, 127262857, 127262862, 127262922, 127265358-127265364, 127265378-127265414, 127265468-127265491, 127265495, 127265573-127265600, 127265619-127265623, 127265626-127265632, 127265659-127265674
830ENG90.97774405665149441977130577961-130578002, 130578038, 130587164
831DOLK90.96907854050711501617131708074-131708104, 131708132, 131708139, 131708399, 131708480, 131709035-131709036, 131709056, 131709062, 131709233, 131709328, 131709387-131709395
832TOR1A90.992992992992997999132586295, 132586347, 132586352-132586356
833ASS190.9959644874899151239133346235, 133370372-133370375
834POMT190.99035812672176212178134379649, 134393865-134393868, 134394225, 134394818-134394831, 134398324
835SETX90.999128703012278034135221658-135221664
836TTF190.99448123620309152718135251315-135251324, 135251328-135251329, 135251336-135251337, 135254508
837TSC190.9982832618025863495135771988-135771990, 135779798-135779800
838CEL90.695288419198596922271135937410, 135937414-135937417, 135937421-135937423, 135937426, 135937447-135937455, 135940041, 135940448, 135940532, 135940538-135940539, 135940595, 135940600, 135940605, 135941982, 135942009, 135942232-135942237, 135942243, 135944075-135944119, 135944521-135944534, 135945920-135945947, 135946471-135946475, 135946502, 135946507-135946509, 135946513, 135946520, 135946537-135946581, 135946593-135946642, 135946649-135947110, 135947122, 135947128
839SURF190.9590254706533837903136223276-136223286, 136223304-136223329
840ADAMTS1390.913165266106443724284136289464-136289469, 136291099-136291109, 136293754-136293891, 136295059-136295147, 136295158-136295219, 136297709-136297724, 136297812-136297813, 136298519-136298554, 136298592-136298594, 136298597-136298599, 136298791, 136298798, 136298819, 136301982, 136302062, 136314952
841DBH90.525889967637548791854136501495, 136501509-136501511, 136501518, 136501534-136501590, 136501604-136501670, 136501690, 136501696-136501723, 136501741-136501754, 136501773-136501774, 136501777-136501797, 136501801, 136504968-136504971, 136504991-136505054, 136505114, 136507329-136507333, 136507344, 136507378-136507413, 136507429, 136507432, 136507484, 136507535-136507563, 136508568, 136508593-136508595, 136508609-136508631, 136508660, 136508671-136508673, 136508702-136508711, 136509370, 136509426-136509433, 136509439-136509442, 136513034, 136513050-136513054, 136513058-136513059, 136513095-136513097, 136513118, 136513121, 136516756-136516852, 136516871-136516896, 136517368-136517406, 136518068-136518094, 136518097, 136521645-136521664, 136521679-136521745, 136521770-136521772, 136522192-136522219, 136522229-136522297, 136522300-136522345, 136523458-136523461, 136523465-136523468, 136523478-136523491, 136523518-136523534, 136523551-136523559, 136523568-136523569
842SARDH90.75444323540086772757136529011-136529026, 136529045-136529088, 136529091-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136577752-136577785, 136578174-136578188, 136582448-136582470, 136582525, 136582537, 136584092-136584098, 136584115-136584126, 136584130-136584133, 136599045, 136599263-136599267
843COL5A190.843574406380288635517137534045, 137534051-137534052, 137534060-137534061, 137534068-137534098, 137534104, 137534123-137534129, 137582758-137582819, 137582834-137582838, 137582841, 137582849-137582851, 137582867-137582925, 137591817-137591871, 137591890-137591927, 137591935, 137591948-137591968, 137593039-137593044, 137593047-137593077, 137593097-137593179, 137619114, 137619173, 137619238, 137620641, 137623482, 137623495, 137642389, 137642428, 137642432, 137642647, 137642704-137642728, 137644463-137644471, 137645718-137645748, 137653804-137653824, 137658875, 137666756-137666758, 137671963-137671992, 137674513-137674552, 137674562-137674566, 137676835-137676840, 137676852-137676873, 137676895-137676935, 137677841-137677894, 137681001-137681007, 137681026, 137686935-137686936, 137686948, 137687108-137687128, 137688235, 137688256-137688264, 137688694-137688704, 137690299-137690300, 137690306-137690307, 137693838-137693847, 137693850-137693853, 137694787-137694825, 137696909, 137697042, 137698040, 137701065, 137701068-137701069, 137702126-137702131, 137703367-137703369, 137704330, 137704456-137704461, 137704540-137704546, 137705874-137705882, 137707830-137707834, 137710571-137710573
844LHX390.88337468982631411209139089208, 139089283, 139089341, 139089444, 139089514-139089541, 139090555, 139090782-139090799, 139090880, 139090883, 139090902-139090905, 139091680, 139094792-139094869, 139094877, 139094881-139094884
845INPP5E90.4227390180878611171935139324214-139324220, 139324734-139324742, 139324747, 139325502-139325517, 139325539-139325560, 139326276-139326277, 139326288-139326360, 139326374-139326375, 139326394-139326437, 139326931-139326943, 139326970, 139327006-139327010, 139327017-139327038, 139327417-139327448, 139327495-139327514, 139327607-139327611, 139327624, 139327660-139327725, 139328489-139328529, 139328538-139328553, 139328567-139328586, 139329192-139329193, 139329217-139329236, 139329253, 139329262-139329270, 139329297, 139329311-139329315, 139333060-139333086, 139333092, 139333115-139333118, 139333132-139333170, 139333178-139333182, 139333198-139333325, 139333340-139333343, 139333347-139333348, 139333370-139333392, 139333422-139333446, 139333469-139333871
846NOTCH190.620761606677129087668139390544-139390584, 139390652-139390654, 139390680, 139390714-139390746, 139390797-139390852, 139390885-139390890, 139390893-139390895, 139390909-139390935, 139390941-139390988, 139391023, 139391034-139391078, 139391085, 139391151, 139391167, 139391171, 139391174-139391175, 139391178, 139391184, 139391209-139391210, 139391232-139391281, 139391293-139391350, 139391395, 139391428-139391432, 139391461, 139391477-139391478, 139391503-139391504, 139391508-139391511, 139391516-139391525, 139391532-139391588, 139391606-139391662, 139391685-139391686, 139391690-139391691, 139391775-139391776, 139391795-139391799, 139391817-139391823, 139391843-139391875, 139391895-139391913, 139391928-139391930, 139391934, 139391944-139391948, 139391952, 139391968-139392010, 139395022-139395023, 139395028-139395030, 139395152-139395154, 139395212, 139395242-139395251, 139395284, 139396467-139396495, 139396724-139396756, 139396787, 139396856, 139396867-139396873, 139396906-139396911, 139399170-139399176, 139399208-139399213, 139399216-139399223, 139399282-139399310, 139399441-139399456, 139399462, 139399779, 139399783-139399788, 139399848, 139399861-139399871, 139399880, 139399942-139399979, 139400000-139400028, 139400109, 139400121-139400125, 139400150-139400154, 139400186, 139400212-139400223, 139400285-139400307, 139400979-139400980, 139401019, 139401086-139401091, 139401312, 139401874-139401877, 139402432-139402474, 139402684-139402702, 139402728, 139402747, 139402756, 139402780-139402810, 139402830-139402837, 139403322-139403334, 139403354-139403378, 139403398-139403415, 139403485-139403500, 139403520-139403522, 139404314, 139404320, 139405132-139405133, 139405154-139405194, 139405255-139405257, 139405617, 139405667-139405692, 139405715, 139405718, 139405723, 139407473-139407519, 139407529-139407558, 139407845-139407872, 139407901, 139407980-139407989, 139408968-139408990, 139409005, 139409023-139409053, 139409081-139409094, 139409100-139409101, 139409115-139409153, 139409742-139409769, 139409788-139409817, 139409842-139409852, 139409935-139409949, 139409977-139410024, 139410045, 139410087-139410098, 139410124, 139410130, 139410146-139410168, 139410441, 139410449-139410451, 139410471-139410486, 139410523, 139410545-139410546, 139411724-139411750, 139411774-139411828, 139411835-139411837, 139412204-139412303, 139412314, 139412323-139412375, 139412388-139412389, 139412589-139412605, 139412650-139412686, 139412694-139412705, 139412729-139412744, 139413043-139413110, 139413141-139413236, 139413252-139413257, 139413260-139413262, 139413271, 139413895-139413942, 139413961-139414000, 139414006-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438491, 139440178-139440238
847AGPAT290.25925925925926620837139568216-139568226, 139568248-139568251, 139568254-139568290, 139568319-139568352, 139568379, 139569187-139569259, 139571041-139571102, 139571113-139571122, 139571423-139571428, 139571451-139571498, 139571516-139571521, 139571524-139571526, 139571529-139571532, 139571542-139571579, 139571588, 139571875-139571991, 139581637, 139581646-139581809
848SLC34A390.692777777777785531800140127050-140127054, 140127702-140127712, 140127750, 140127849-140127856, 140128085, 140128129-140128131, 140128134-140128136, 140128155-140128174, 140128315-140128352, 140128369-140128379, 140128561-140128650, 140128665-140128696, 140128702, 140128705, 140128712, 140128941-140128984, 140129061, 140129099, 140129144-140129152, 140130404-140130405, 140130415-140130456, 140130468, 140130476-140130485, 140130488, 140130504-140130629, 140130764-140130791, 140130800-140130803, 140130811-140130868
849EHMT190.810110341288177403897140513485, 140513496-140513501, 140605442-140605482, 140611078-140611634, 140669696, 140669699, 140671173, 140671214-140671247, 140671255-140671293, 140672334, 140672355-140672391, 140672420, 140672423, 140672453, 140672485, 140672489, 140672497-140672499, 140674103, 140708946, 140729382-140729391, 140729405
850SHOXX0.45961319681456475879591633-591909, 595353-595366, 595378-595561
851CSF2RAX0.4153256704980876313051401597-1401607, 1401634-1401672, 1404671-1404699, 1404705-1404813, 1407444-1407449, 1407452, 1407704, 1407727, 1407731, 1409263, 1409273-1409370, 1409393, 1413221-1413286, 1413312-1413328, 1413335-1413354, 1419384-1419456, 1419466-1419519, 1422154-1422255, 1422816-1422852, 1422860, 1422872-1422912, 1424339-1424356, 1424386-1424420, 1428361
852ARSEX0.99830508474576317702852951, 2852954-2852955
853NLGN4XX0.975928192574465924515947331-5947357, 5947440-5947471
854OFD1X0.9851924975320845303913774785-13774793, 13778266-13778272, 13778450-13778452, 13778698-13778705, 13779274-13779282, 13780554-13780562
855FANCBX0.9879844961240331258014862030-14862031, 14862054-14862061, 14862781-14862784, 14863165-14863173, 14863267, 14863270-14863272, 14863278, 14883462-14883464
856CDKL5X0.95958616230197125309318593474-18593500, 18593563-18593570, 18597968-18597971, 18600051-18600070, 18606116-18606131, 18606156-18606172, 18606212-18606244
857PDHA1X0.90110826939471116117319367465-19367489, 19368055-19368057, 19368107-19368130, 19372622-19372633, 19372636, 19372664-19372676, 19373598-19373599, 19375796-19375804, 19377686-19377690, 19377732-19377741, 19377750, 19377761-19377771
858RPS6KA3X0.999100314889792222320222156-20222157
859SMSX0.997275204359673110121958946-21958948
860ARXX0.9928952042628812168925031654-25031659, 25031662-25031664, 25031777-25031779
861IL1RAPL1X0.9646102343376474209129972645, 29972648-29972670, 29972693-29972701, 29972781-29972802, 29973414-29973420, 29973510-29973513, 29973516, 29973931-29973937
862DMDX0.9958401157533461105831792086, 31838151-31838154, 31838157, 31893341-31893350, 31893403-31893407, 32398676-32398682, 32398739-32398744, 32398796-32398797, 32591672, 32591682-32591690
863RPGRX0.85862966175195489345938145153-38145162, 38145242, 38145304-38145310, 38145324-38145778, 38145791-38145799, 38145950-38145954, 38146024, 38146033
864OTCX0.9295774647887375106538262908-38262954, 38280288-38280301, 38280322-38280335
865BCORX0.97608200455581126526839911456-39911462, 39911620-39911636, 39913253, 39913280-39913284, 39913294, 39913546-39913586, 39914694-39914701, 39931903-39931912, 39931950-39931961, 39932058-39932059, 39932188, 39932290-39932293, 39933544-39933548, 39933898-39933909
866ATP6AP2X0.9477682811016155105340440323-40440347, 40448238, 40448273-40448280, 40450520-40450521, 40450546-40450564
867NYXX0.9806362378976528144641333938-41333965
868CASKX0.9689081706435386276641419043-41419044, 41420860-41420870, 41420894-41420897, 41428971-41428999, 41437739-41437757, 41604822-41604842
869PORCNX0.994227994227998138648370977-48370979, 48372518-48372522
870EBPX0.974025974025971869348385543, 48385546, 48385553, 48386661, 48386664-48386677
871PQBP1X0.962406015037593079848755820-48755824, 48759270-48759278, 48759659-48759674
872CACNA1FX0.999325918436134593449065756-49065759
873FOXP3X0.9907407407407412129649110517-49110528
874CLCN5X0.9873521011831931245149806980-49807010
875KDM5CX0.999145846679484468353239691-53239694
876SMC1AX0.999459751485682370253439862-53439863
877ALAS2X0.9597505668934271176455035663-55035673, 55040036-55040037, 55043919-55043940, 55043977-55043997, 55044077-55044091
878ARHGEF9X0.994842037395238155162858043-62858050
879ARX0.9721317408613877276366765155-66765231
880OPHN1X0.9916977999169820240967429995-67430014
881MED12X0.999540863177233653470360680-70360682
882TAF1X0.9957761351636724568270586201-70586218, 70678167-70678172
883PHKA1X0.9779411764705981367271813061-71813065, 71830954, 71839136-71839137, 71842975-71842986, 71855014, 71855017-71855018, 71855026-71855061, 71855065-71855067, 71855101-71855106, 71856213, 71864263-71864274
884ATRXX0.999866292285061747976940431
885ATP7AX0.9973351099267212450377227198-77227208, 77298857
886TBX22X0.9808061420345530156379277921-79277927, 79278559-79278563, 79282306-79282323
887ZNF711X0.9855643044619433228684525091-84525096, 84525772-84525775, 84525896, 84526231-84526237, 84526308-84526317, 84526452, 84526604-84526607
888CHMX0.84046890927625313196285166280-85166305, 85211277-85211284, 85212884-85212887, 85212969-85212980, 85213866, 85213935-85213982, 85218670-85218711, 85218795-85218796, 85218810-85218852, 85218859-85218865, 85218873-85218978, 85219008-85219021
889TIMM8AX0.993197278911562294100603651-100603652
890BTKX0.98131313131313371980100608220-100608228, 100608239, 100608249-100608251, 100608254-100608262, 100608291-100608296, 100608913-100608916, 100609643, 100613412-100613415
891COL4A5X0.98616053776196705058107782976, 107783000-107783006, 107783010, 107783022, 107783027-107783033, 107802294-107802298, 107807112-107807156, 107811883-107811885
892XIAPX0.97523427041499371494123040945-123040981
893GPC3X0.9959839357429771743132670205-132670211
894ARHGEF6X0.98798798798799282331135754271-135754275, 135758871-135758874, 135764085-135764086, 135770131-135770138, 135772788-135772796
895ZIC3X0.95726495726496601404136649688-136649692, 136651084-136651094, 136651121-136651135, 136651139-136651140, 136651162, 136651169-136651185, 136651216-136651224
896FMR1X0.97577672459189461899147026432-147026465, 147026507, 147026537-147026538, 147027102-147027109, 147030216
897SLC6A8X0.874213836477992401908152954030-152954106, 152954118-152954241, 152954274-152954291, 152955890-152955900, 152959470-152959472, 152960086-152960088, 152960287-152960290
898ABCD1X0.9995531724754212238152991026
899L1CAMX0.9986751457339753774153135312-153135316
900OPN1LWX0.785388127853882351095153416132-153416154, 153416171-153416179, 153416413, 153416416, 153418413-153418484, 153418527-153418531, 153421782-153421801, 153421854-153421877, 153421999-153422008, 153424291-153424326, 153424359-153424365, 153424375-153424401
901OPN1MWX0.76894977168952531095153448176-153448179, 153448187, 153448242, 153448257, 153453259-153453285, 153453331-153453343, 153453477-153453480, 153453487, 153453493, 153453496, 153453544, 153453547, 153455543-153455563, 153455569-153455570, 153455668-153455688, 153455694, 153457285-153457296, 153458902-153458937, 153458959-153458995, 153459039-153459041, 153461421-153461450, 153461489-153461495, 153461505-153461531
902OPN1MWX0.781735159817352391095153485294-153485297, 153485305, 153485360, 153485375, 153490377-153490403, 153490449-153490461, 153490595-153490598, 153490605, 153490611, 153490614, 153490662, 153490665, 153492661-153492681, 153492687-153492688, 153492786-153492806, 153492812, 153492817-153492820, 153494403-153494414, 153496020-153496061, 153496090-153496096, 153496157-153496159, 153498539-153498574, 153498607-153498613, 153498623-153498649
903FLNAX0.99118831822759707944153581740-153581754, 153583399, 153583402, 153588157-153588162, 153590938-153590940, 153595765-153595766, 153595882-153595900, 153599431-153599437, 153599526-153599527, 153599538, 153599572-153599584
904EMDX0.997385620915032765153609508-153609509
905G6PDX0.995726495726571638153760233-153760239
906USP9YY0.98695878977569100766814870458-14870480, 14870512-14870518, 14870550-14870572, 14872421-14872428, 14872477, 14872490-14872506, 14872537-14872547, 14883029-14883031, 14883058-14883062, 14885581, 14885584
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
2.5SDHD-G12Shet unknown0.008Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FMO3-P153Lhet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5HEXA-R504Chet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5HEXA-I436Vhomozygous0.867Unknown
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
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-A206Vhomozygous0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2CASP10-V410Ihet unknown0.047Dominant
protective
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.874 (probably damaging), Testable gene in GeneTests with associated GeneReview
2CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2ALAD-K59Nhet unknown0.059Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2MEFV-R202Qhomozygous0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-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
2APOB-LAL12DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ERCC6-Q1413Rhomozygous0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
2ERCC6-R1213Ghomozygous0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
2ERCC6-M1097Vhomozygous0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1.5CHRNA5-V134IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5CHRNA5-D398Nhomozygous0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5SFTPA1-R219Whet unknown0.085Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1.5TLR4-D299Ghet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1GJA1-A253Vhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ALG12-I393Vhomozygous0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
1XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1XPC-A499Vhomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1XPC-R492Hhomozygous0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SIX5-P635Shomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SYNE1-T7973Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-C4021Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1SLC5A1-N51Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.043 (benign), Testable gene in GeneTests
1SLC5A1-A411Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SLC5A1-H615Qhomozygous0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AKAP9-M463Ihomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-KD656NYhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TMPRSS3-V53Ihet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests
1TJP1-I790Vhomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PMS2-T485Khet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TLR5-F616Lhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1TLR5-N592Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TLR5-R392*het unknown0.044Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TLR5-Q181Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P174Shomozygous0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RAPSN-R205Qhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1OSMR-H187Qhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.117 (benign)
1OSMR-G578Dhomozygous0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
1SLC38A10-E676Dhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
1SLC38A10-K559Rhomozygous0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.813 (possibly damaging)
1GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-P1987Lhomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-Y2232Chomozygous0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2345Shomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-P3037LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3867Khomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
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
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PKD2-R28Phomozygous0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1TSEN54-R490Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1LAMC2-D247Ehet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.328 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1DCDC2-P152Ahomozygous0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PEX6-A809Vhomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP2B6-Q172Hhomozygous0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
1CYP2B6-K262Rhomozygous0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DPYD-I543Vhomozygous0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FLT4-R1146Hhomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1FLT4-L893Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1IL12B-V33IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK054965-K22ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABO-P353Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABO-P155Lhomozygous0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HDAC6-R832Hhomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-Q1169Rhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-K1355QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RGPD4-T1410Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RGPD4-A1676Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RGPD4-S1680Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SSX1-F101Chomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CROCC-R841Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-G845Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-R901Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-R903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-R918Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-LE1031RKhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-E1037Qhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
1CROCC-R1049HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-T1072Mhomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
1CROCC-R1097Phet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1IKBKAP-E312Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IKBKAP-S251Ghet unknown0.017Unknown
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
1ATG9B-R141Whomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1AK300656-R11*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1DCLRE1C-S184ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-R3632Qhomozygous0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-S2995Ghomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-L2980Hhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-G2225Shomozygous0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-V1967Ihomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-R1200PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ADA-D8Nhomozygous0.030Dominant
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-N289Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-N991Dhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-A2951Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-I81VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-C194*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TUBB1-T274Mhomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
1TUBB1-R307Hhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1USP9Y-E65DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1PLXNA3-R350Qhomozygous0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.604 (possibly damaging)
1ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ADAMTS13-A1033Thomozygous0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.712 (possibly damaging), Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1FAM58A-G4ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM48A-T773Mhomozygous0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.732 (possibly damaging)
1FAM48A-C289ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KRT14-R336Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KRT14-R335Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KRT14-R282Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KRT14-A274Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KRT14-Y248*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.75KRT14-L96Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75COL9A3-P143Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75COL9A3-A606Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75DOLK-W60Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75DOLK-Q57*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75USH2A-R3037Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75USH2A-S3033Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.75USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.625ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ALMS1-I2331Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625LRRC50-E540Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625LRRC50-L659Vhomozygous0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.625RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625RSPH4A-N566Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFS7-P23Lhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRIN3B-R404Whet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
0.5GRIN3B-G466Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRIN3B-T577Mhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GRIN3B-A832Ehet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5GRIN3B-APAEAPPHS1028Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GRIN3B-P1039Rhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-E612EPLSPEhet unknownUnknown
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
0.5LMAN1-M410Lhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALR2-W249Lhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CALHM1-L86Phomozygous0.798Unknown
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
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA3-P1208Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-L243Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chomozygous0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ETFB-T245Mhet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-P52Lhet unknown0.061Unknown
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)
0.5PCDH15-R934Qhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSG-T236Shomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5ARSG-W274Rhomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ARSG-R398Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CACNG6-C252Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPN1-H39Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPN1-G523Ahet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDHR1-H53Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5DMPK-R469Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMPK-L423Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH6-V141Mhet unknown0.928Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-G1694Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5DNAH6-V2898Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.931 (probably damaging)
0.5BRD4-P252Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF844-V658Ihet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MAN2B1-R337Qhomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RGR-S245Fhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HKR1-V526Ihet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HKR1-T628Ihet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5MSH6-L7Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSH6-SP65PRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSH6-S1329Lhet 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
0.5FSHR-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
0.5LHCGR-N291Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LHCGR-Y113Nhet unknownUnknown
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
0.5SCN4A-S524Ghomozygous0.916Unknown
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
0.5DHRS4L1-R5Ghet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHRS4L1-R63Shet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHRS4L1-R122Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K368Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
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-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-V7Lhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UPF3A-P92Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5UPF3A-D95Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CMA1-H66Rhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.963 (probably damaging)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5GIF-Q23Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5ESRRB-P386Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.069 (benign), Testable gene in GeneTests
0.5MLH3-S966Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-P4733Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RDH11-E79Khet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5PABPC3-N111Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-P191Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-I195Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5PABPC3-RQTEL272Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R278Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-T279Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R287Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-Q292*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PABPC3-V293Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-F335Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-V365Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R424Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R469Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5PABPC3-T539Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R544Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N551Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ACSM4-Q357*het unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TIRAP-S180Lhomozygous0.115Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-P480Lhomozygous0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-G381Shomozygous0.161Unknown
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
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COL2A1-E142Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLAT-E19Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-Q209Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-YS658HPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-P1243Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM132C-V160Ihomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-V332Ihet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-T618Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TMEM132C-G698Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-R806Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5UTP20-R693Khet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5UTP20-L1882Qhomozygous0.991Unknown
not reviewed
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
0.5KRT78-Q431*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KRT78-T306Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5CTDSP2-V146Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CTDSP2-K142Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RCOR1-R15Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RCOR1-S21Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR10V1-Q123Rhet unknown0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OR10V1-Q123Rhet unknown0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OR10V1-V117Ahomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-A67Ehet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLHDC4-L155Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ACSF3-L2Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACSF3-A17Phet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ACSF3-V372Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K4087Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A4025Thet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-V3898Mhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T2520LEREKAERERLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2275Rhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-V1717Mhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-M15Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZFP90-H114Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF778-K164Thet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF778-A317Vhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF778-I534Thet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF778-Q553Hhet unknown0.781Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF778-N683Dhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ANKRD11-P2263Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5ANKRD11-A2023Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ANKRD11-A971Vhet unknown0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BRCA1-S1634Ghomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-Q230Rhet unknown0.042Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.895 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-S318Lhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.578 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NR_027336-P160LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-V73FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-W23*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNB1-E32Ghomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), 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
0.5SH2B1-T484Ahomozygous0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPING1-V480Mhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCG3-S125Nhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.655 (possibly damaging), Testable gene in GeneTests
0.5OR5A1-I52Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.974 (probably damaging)
0.5OR5A1-D183Nhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OCA2-R419Qhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PLA2G4E-G36Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-E140Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-M163Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CYP1A1-I462Vhet unknown0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.488 (possibly damaging)
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALKBH3-R164Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ALKBH3-D228Ehet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PDHX-R24Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.055 (benign), Testable gene in GeneTests
0.5PDHX-T101Ahet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.381 (possibly damaging), Testable gene in GeneTests
0.5OTOA-V508Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OTOA-Y806Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLX4-ES1242GRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-S146Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TBC1D24-F295Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE8A-L55Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEIL3-P117Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-P443Lhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRIM2-E181Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-D204Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S259Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-L286Phet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y287Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H289Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-N298Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRIM2-C302Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G304*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRIM2-V310Dhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-T323Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Q325*het unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PRIM2-D342Ghet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y345Chet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-R349Chet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G434Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H445Qhet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-R452Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S464Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF354C-Y524Chet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5ZNF354C-F546Lhomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF354C-E553Khomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.057 (benign)
0.5LEPR-Q223Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EIF2AK1-K558Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T438Ahet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-E463Qhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-Q1003Ehet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-D1180Ehet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.5FNDC1-L1261Phet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.38 (possibly damaging)
0.5FNDC1-Q1280Rhet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-T1504Khet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZYG11A-E76Dhomozygous0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZYG11A-M343Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZYG11A-N606Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ORC1-S269Lhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.825 (possibly damaging), Testable gene in GeneTests
0.5LAMA2-G600Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-V1138Mhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HIVEP2-L1538Phomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HIVEP2-R792Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HIVEP2-V640Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y3105Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARHGAP22-T410Khet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EMB-S39Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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-E3293Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-K859Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH10-Y730Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GEMIN5-R682Qhomozygous0.837Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5GEMIN5-R319Ghet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5ESPN-R422Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESPN-R550Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SVEP1-A2750Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-L1648Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-I1157Vhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5SVEP1-R229Ghet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MRPL50-L127Fhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5INVS-R815Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5INVS-LQ962QVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CYP11B2-I248Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAI1-A8Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DFNB31-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
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-YK461P*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH1-R1279Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOTCH1-H523Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ABL1-S972Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5SARDH-M648Vhomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SARDH-R614Hhomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-A13Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-A13Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYOM2-A219Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYOM2-T304Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYOM2-S523Nhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYOM2-N869Shet unknown0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLNC-EN98GHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLNC-FL106LPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ACHE-P592Rhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACHE-H353Nhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELN-G581Rhet unknown0.073Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AL157420-L130Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AL157420-P58Lhomozygous0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-T151Ihet unknown0.083Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.846 (possibly damaging)
0.5GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5RP1-R872Hhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-R1595Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-S1691Phomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-D124Ehet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HR-Q528Rhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-C397Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5HR-G337Dhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NKX3-1-R52Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.788 (possibly damaging)
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
0.5CPN2-V536Mhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.5MTR-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5BPIL1-D359Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5C10orf18-C499GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C10orf18-L557Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C10orf18-V1679AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C10orf18-T2100Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C10orf18-I2108Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C10orf18-E2193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C10orf18-K2288Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C10orf18-S2404NhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLCN2-T668Shomozygous0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM25-W25Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAJC13-L1460Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAJC13-A1463Shomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAJC13-P1515Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP24A1-R396Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CFHR2-C72Yhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5CHEK2-E493Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHEK2-E262Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTLL3-M502Rhet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTLL3-R561*het unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5PCNT-G704Ehet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5PCNT-A1194Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.078 (benign), Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-S2191Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2659Hhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5SLC2A11-R235Qhet unknown0.284Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC2A11-K472Ehet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FANCD2-K770Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCD2-P852Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITIH3-Q315Khet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITIH3-T340Mhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
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
0.5NRIP1-R448Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5TTC21A-R91Qhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5TTC21A-R290Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5TTC21A-E293Khet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5TTC21A-R1056Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTC21A-R1317Khet unknown0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAV1-Q937Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5TRA2B-K140*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TRA2B-E136*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RHBG-G76Dhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TET2-L34Fhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5TET2-V218Mhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TET2-H1778Rhomozygous0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BANK1-W40Chet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD244-G287Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VEGFC-M419Delhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VEGFC-R61Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K11752Ehet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6352Hhet unknown0.028Unknown
not reviewed
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-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH7-L3319Phomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-VY2215GChet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH7-T2114Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5DNAH7-K825Ehet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.208 (possibly damaging)
0.5DNAH7-S632Chet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DNAH7-R545Chet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
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
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP21-P91Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging)
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-E2968Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DARS2-G338Ehet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5WFS1-R818Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PER2-V903Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5PDGFRA-G79Dhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests
0.5GPRIN3-V446Ahet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPRIN3-P390Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5GPRIN3-L39Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375MYO15A-C1847Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.375MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ROR2-S557Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375WDR36-I625Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375AXIN2-L662Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PCK1-L300Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM55D-A451Vhet unknown0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25FAM55D-Y398Hhomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM55D-L177Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DYNC2H1-SD173NChet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-T1288Ahet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.149 (benign), Testable gene in GeneTests
0.25DYNC2H1-K1413Rhet unknown0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.25DYNC2H1-R2871Qhet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-A3687Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TNFRSF8-L4Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TNFRSF8-R297Chomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25INTS4-P562Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25INTS4-G355Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25INTS4-Q254*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM5B-C282Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM5B-L390Vhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25MUC6-Q2126*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MUC6-H1666Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-M1648Thomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-S1644Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-A1637Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-V1416Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNH1-P170Lhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RBMXL2-A66Vhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RBMXL2-T134Ahomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25RBMXL2-R260Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25AK160367-D257Ehomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK160367-D315Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK160367-M356Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KNCN-Q127*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KNCN-S77Phomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRXN2-A270Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NRXN2-L81Qhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPLP0P2-N36Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPLP0P2-C48Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPLP0P2-A51Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPLP0P2-D131Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPLP0P2-S185Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPLP0P2-I206Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPLP0P2-Y212Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPLP0P2-D243Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPLP0P2-G307Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FOXD2-R49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FOXD2-H293HPHhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FOXD2-A368Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RBMXL1-P301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RBMXL1-L296Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-D233Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-V205Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25SYDE2-V1157Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SYDE2-R591*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SYDE2-V569Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SYDE2-Q175Phet unknown0.215Unknown
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-V91Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F94Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OR8U8-I109Vhet unknown0.105Unknown
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-F153YSIhet unknownUnknown
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-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
0.25CEP55-T99Ahomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CEP55-Q257*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CEP55-H378Lhet unknown0.607Unknown
not reviewed
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
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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
0.25SLC2A9-R300Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-V282Ihet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.138 (benign), Testable gene in GeneTests
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-R454Qhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DROSHA-L612Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DROSHA-S321Lhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK126213-M228Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK126213-R224Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MANBA-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
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-G279Ahomozygous0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-P469Ahomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-V1054Lhomozygous0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-A1214Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SHROOM3-P1290Lhomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYT1-D274Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYT1-E297Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYT1-T782Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RALGAPA2-N1488Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RALGAPA2-Y1347Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPCPD1-L186*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GPCPD1-S185Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC19A1-H27Rhet unknown0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25MST1-R653Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MST1-T159Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-V121Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH12-M2540Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAH12-K1754Nhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH12-D1549Nhomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH12-T467Phomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL7A1-P595Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25XKR3-H442Nhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XKR3-F255Lhomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25XKR3-L244Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GOLGA4-Q632Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GOLGA4-Q1028Khomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.25GOLGA4-M1793Khomozygous0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), 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
0.25MTUS1-E1186Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MTUS1-E1105Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MTUS1-K911Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MTUS1-W208Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.928 (probably damaging)
0.25MTUS1-C148Rhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25TXNDC3-C208Rhet unknown0.787Unknown
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
0.25CSMD3-N3621Hhet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.25CSMD3-R1574Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CSMD3-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (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
0.25DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.25PARP10-Q929Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PARP10-V630Ahomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PARP10-L395Phomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.263 (possibly damaging)
0.25PARP10-I249Vhomozygous0.484Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPT-H14Nhet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C6orf97-A269Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C6orf97-R272Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C6orf97-V604IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C6orf97-V683IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL10A1-G455Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL10A1-M27Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25REV3L-S1886Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25REV3L-T1224Ihet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASCC3-G164Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ASCC3-L146Fhomozygous0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.09 (benign)
0.25LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH8-W1692Rhet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH8-L658Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP8B4-A472Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATP8B4-H452Nhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CDC42BPB-D1152Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDC42BPB-Q568*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-V338Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-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-N1330DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-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-T492Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-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
0.25CPO-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
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD19-R514Hhomozygous0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.944 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC6P1-G7Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCC6P1-S9Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCC6P1-K68Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FUT8-T267Khomozygous0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.25FUT8-E280Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRP1-A217Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25LRP1-Q2900Phomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP1-D4193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1B-C295Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1B-C295Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1B-M154Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25A2ML1-D850Ehomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25A2ML1-W1224Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25A2ML1-H1229Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25A2ML1-M1257Vhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25AVIL-K204Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AVIL-D41Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C12orf51-D3948Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C12orf51-IS1074TVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25DHX37-R1081Qhet unknown0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.136 (benign)
0.25DHX37-I928Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DHX37-M96Ihet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLSCR3-V293Ihomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLSCR3-L243Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C19orf29-R445Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C19orf29-WES437RERhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25ZNF708-K122Thomozygous0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.25ZNF708-A71Vhomozygous0.975Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF708-N31Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH3-A1637Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH3-A1192Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF578-L218Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF578-E238Khet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP7-A481Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25AGRN-Q852Rhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25AGRN-A1514Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25RNF43-L418Mhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KIAA1267-P1010Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1267-R525Phomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1267-V261Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PIGW-W75Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PIGW-L80Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TEKT3-G282Ahet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TEKT3-Y12Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TEKT3-R3Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25TCEB3B-Q617Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TCEB3B-P615Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TCEB3B-P612Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TCEB3B-A446Thet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25TCEB3B-A403Shet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCEB3B-C254Fhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25CCDC57-Q810Khet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC57-D776Nhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC57-R774Ghet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC57-E308*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25DNAI2-A558Thet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0MBL2-R52Chet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0RYR2-G1886Shet unknown0.061Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0HPS6-G340Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0FANCI-E689Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0CC2D2A-S1146Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,716,121,925 bases (95.0% of callable positions, 88.2% of total positions)

Coding region coverage: 31,653,490 bases (95.1% of all genes, 96.2% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in