hu86597D - GET-Evidence variant report

Variant report for hu86597D

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1APOE-C130RHighWell-establishedWell-established pathogenic

Complex/Other, Heterozygous
0.135392This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).1
2CBS-I278THighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00288158This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment.1
3LRP5-V667MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0413646This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.1
4NPHS1-R256WHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
Reported to cause congenital nephrotic syndrome, a rare recessive disorder that leads to kidney failure in infants and often lethal by a year or two of age. This classification comes from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) (see Clinvar: http://www.ncbi.nlm.nih.gov/clinvar/RCV000049935/). Heeringa et al 2008 (PMID: 18503012) report seeing this variant once in a study of 32 affected children.1
5PEX1-I696MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0270547Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.1
6SLC3A1-M467TModerateWell-establishedWell-established pathogenic

Recessive, Homozygous
0.00213794Causes cystinuria in a recessive manner, which can lead to kidney stones when symptomatic. This variant is one of the most common cystinuria-causing variants, and may be somewhat milder than other causal variants.1
7WNT10A-F228IModerateWell-establishedWell-established pathogenic

Unknown, Homozygous
0.0187907Causes ectodermal dysplasia in a recessive manner (malformations of teeth and nails, abnormal/loss of sweating). Although reports have high statistical significance, allele frequency for this variant is high relative to the incidence of the disease. This suggests it may be milder than other pathogenic variants and cause disease with less than 100% penetrance and/or that the disease is more common than reported. Bohring et al. report heterozygotes for pathogenic variants in this gene often have milder skin, tooth, and nail abnormalities, with males having a higher rate of tooth abnormalities.1
8PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
9COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
10MTRR-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
11rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
12KRT5-G138ELowLikelyLikely pathogenic

Unknown, Heterozygous
0.0521472This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).1
13TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
14SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
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
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
16DPYD-M166VHighLikelyLikely pharmacogenetic

Unknown, Homozygous
0.0778955Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. 1
17FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
18PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Homozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
19CCR5-S185ShiftLowWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.047619Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.1
20CFH-V62ILowLikelyLikely protective

Complex/Other, Homozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
21ABCG5-R50CLowLikelyLikely protective

Unknown, Heterozygous
0.0684142This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.1
22KCNJ11-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
23IL7R-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
24MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
25LPL-S474XLowUncertainUncertain protective

Unknown, Heterozygous
0.0844953This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.1
26OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
27NEFL-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
28FBN2-S2580LLowUncertainUncertain benign

Dominant, Homozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
29ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
30GJB3-R32WLowUncertainUncertain benign

Unknown, Heterozygous
0.022309Probably benign. Although Polyphen 2 predicts it be damaging and some publications suggested it might have a functional effect, others report it to be a fairly common polymorphism and functional studies failed to find a difference between it and wild type.1
31MAPT-Q230RLowUncertainUncertain benign

Unknown, Heterozygous
0.0420019Common polymorphism.1
32TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
33RP1-N985YLowUncertainUncertain benign

Unknown, Homozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
34PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
35MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
36APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
37SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
38USH2A-G4692RLowUncertainUncertain benign

Unknown, Heterozygous
0.00474066Likely benign. Deleterious variants in this gene can cause Usher Syndrome type IIa in a recessive manner, but this variant doesn't appear to be involved.1
39TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
40TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
41GALT-N314DLowUncertainUncertain benign

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

Exome coverage: 31318727 / 33212919 = 94.30%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.5967741935483924756138955553-955753, 957581-957582, 957594-957643, 957656-957662, 957668-957746, 957772-957790, 957810-957842, 970657-970697, 976045-976059, 976069, 976081-976105, 976108-976137, 976171, 976175, 976184-976260, 976553-976572, 976579-976660, 976672-976730, 976736, 976858-976890, 976915-976935, 976939-976940, 977039-977041, 977052-977059, 977062-977066, 977081-977082, 977336, 977385-977398, 977409-977453, 977490, 977493, 977499-977500, 977503-977504, 978619-978634, 978643-978669, 978754-978756, 978760, 978764, 978770-978772, 978775-978784, 978806, 978918-978963, 978996-979074, 979082-979103, 979251-979262, 979290-979307, 979346, 979359, 979391-979398, 979525, 979533, 979560-979567, 980584-980597, 980876-980879, 981207, 981457, 981462, 981788-981817, 981836-981838, 981841, 981844, 981874-981914, 981922-981939, 981944-981951, 981970-981974, 981978-981993, 982021-982029, 982064, 982089-982115, 982204-982258, 982277-982314, 982327, 982737-982746, 982791, 983030-983037, 983156-983161, 983178-983184, 983189-983192, 983194, 983397, 983413-983446, 983474-983535, 983560-983575, 983587-983745, 984247-984261, 984278-984345, 984356-984376, 984406-984424, 984433-984439, 984624, 984641, 984659-984665, 984674-984716, 984826, 985004-985012, 985038-985039, 985068, 985071, 985082-985170, 985283-985294, 985306, 985323, 985331-985351, 985373, 985613-985635, 985661, 985847-985891, 985927-985971, 986134-986143, 986176-986217, 986633-986636, 986690-986708, 986723-986724, 986728-986729, 986833-986907, 986915-986917, 986989, 986997, 987004, 987008-987025, 987108-987113, 989140-989146, 989250, 989860-989875, 990216-990257, 990269-990287, 990292-990321, 990331-990344
2GABRD10.5629139072847759413591950863-1950930, 1956381-1956407, 1956461-1956464, 1956787, 1956795-1956797, 1956810, 1956826-1956830, 1956964-1957003, 1957014-1957040, 1957071-1957077, 1957087, 1957091-1957092, 1957158-1957177, 1959016-1959018, 1959036, 1959039, 1959063, 1959066-1959068, 1959615, 1959620-1959643, 1959648, 1959711-1959713, 1959719-1959729, 1960550-1960553, 1960581-1960599, 1960622, 1960625-1960629, 1960633-1960643, 1960651-1960705, 1960990-1961020, 1961047, 1961086-1961088, 1961134-1961145, 1961170-1961196, 1961423-1961465, 1961478-1961501, 1961529-1961563, 1961586-1961598, 1961637-1961681, 1961708-1961709, 1961712-1961714, 1961717-1961721
3PEX1010.804281345565751929812337205-2337218, 2337238-2337250, 2337923-2337937, 2337974-2337977, 2337982, 2337998-2337999, 2338047-2338052, 2338165, 2338229, 2338269-2338277, 2339991, 2340026-2340038, 2340043, 2340180-2340181, 2340198-2340215, 2340271, 2341814-2341815, 2343830-2343910, 2343927-2343930, 2343939-2343941
4NPHP410.9467414155571122842816027374-6027391, 6038330-6038473, 6046215-6046220, 6046234, 6046237-6046240, 6046245-6046276, 6046294, 6046323-6046344
5ESPN10.9048732943469824425656485037-6485054, 6485061-6485145, 6485151-6485178, 6485198-6485207, 6485212-6485215, 6485223, 6485229-6485232, 6485248-6485253, 6485263, 6485266, 6488378-6488392, 6488426-6488432, 6488467-6488479, 6500770-6500798, 6500864-6500868, 6505849-6505855, 6505858, 6505862-6505863, 6512127-6512133
6PLEKHG510.991846973973032631896529183-6529188, 6529443, 6531121-6531124, 6531152, 6532629, 6534578-6534585, 6534632, 6557380-6557383
7KIF1B10.998494259363828531310425223, 10425546, 10425549, 10425555, 10425560-10425562, 10425656
8TARDBP10.67068273092369410124511073801-11073822, 11073830-11073869, 11073896-11073915, 11073948-11073972, 11073976-11073981, 11076901-11076906, 11076926-11076961, 11076995-11076998, 11077033-11077043, 11078793-11078795, 11078840, 11078846-11078859, 11078891, 11078910-11078930, 11080487-11080497, 11080508-11080511, 11080576-11080609, 11080644-11080653, 11082181-11082188, 11082193, 11082272-11082275, 11082285, 11082326-11082363, 11082431-11082463, 11082471-11082481, 11082519-11082561, 11082594, 11082633
9MASP210.56720038816109892206111087089-11087096, 11087133-11087139, 11087540, 11087687, 11090239-11090259, 11090276, 11090806-11090814, 11090873-11090878, 11090897, 11094885-11094896, 11094926-11094957, 11097750-11097868, 11102932-11103079, 11103409-11103592, 11105485-11105551, 11105562-11105596, 11106620, 11106632-11106694, 11106728-11106790, 11106949-11106984, 11107009-11107048, 11107093, 11107103, 11107106-11107108, 11107129-11107158, 11107175-11107176
10MTHFR10.992389649923915197111853992-11853994, 11854128-11854138, 11863099
11CLCNKA10.94234496124031119206416356497, 16356522, 16356527-16356537, 16356956-16356970, 16356985-16357017, 16357144-16357169, 16358703-16358708, 16358774-16358786, 16358938-16358946, 16358952-16358954, 16360137
12CLCNKB10.90746124031008191206416373044-16373085, 16378036, 16378215, 16378260-16378299, 16378697-16378728, 16378744-16378763, 16378774-16378795, 16378822-16378830, 16378881-16378887, 16380203-16380205, 16383392-16383405
13ATP13A210.92435788879481268354317312737-17312750, 17313000-17313002, 17313048-17313055, 17313107, 17313343, 17313590-17313637, 17313654, 17313703, 17314701-17314702, 17314884, 17314942-17314945, 17316233-17316264, 17318283-17318314, 17318318, 17318620-17318622, 17318810-17318818, 17319044, 17320275, 17322498, 17322511, 17322579-17322623, 17322639-17322642, 17322757, 17322881-17322883, 17322990-17322991, 17323553, 17323563, 17323598, 17326561-17326564, 17326569-17326571, 17326577-17326582, 17326758, 17326777, 17326803, 17327014-17327024, 17331964-17331970, 17332206, 17338224-17338233
14PINK110.99713631156935174620960262-20960265, 20960315
15ALPL10.994920634920638157521890541-21890548
16HSPG210.991499696417731121317622154550-22154585, 22154639-22154645, 22154764-22154768, 22154779, 22263648-22263710
17WNT410.9270833333333377105622469339-22469415
18RPL1110.962756052141532053724019099-24019113, 24019177, 24019202, 24019236, 24020299, 24020369
19FUCA110.997858672376873140124186338, 24186378, 24186386
20LDLRAP110.983818770226541592725870240-25870250, 25870267-25870270
21SEPN110.89028776978417183166826126722-26126904
22YARS10.995589161940777158733256787, 33256796, 33256852, 33282805-33282808
23GJB310.99753997539975281335250794, 35250797
24ZMPSTE2410.998599439775912142840737566, 40751676
25KCNQ410.9722222222222258208841249766-41249804, 41249868-41249886
26CLDN1910.971851851851851967543203942-43203960
27EIF2B310.9845474613686521135945392341-45392361
28MMACHC10.99882214369847184945973928
29STIL10.9485389190587199386747737803, 47737856, 47746230, 47755179-47755188, 47759130-47759164, 47761461-47761464, 47761509, 47761513-47761520, 47765593, 47765597-47765599, 47765695-47765711, 47765719, 47765747-47765748, 47765806-47765824, 47767262-47767269, 47767300-47767347, 47767906-47767932, 47767950, 47767962-47767967, 47767982, 47767985-47767987, 47768016
30ORC110.9880123743232831258652838901, 52838928-52838932, 52838935-52838945, 52839036-52839042, 52841115, 52841157-52841159, 52850287, 52851529-52851530
31DHCR2410.9851708575112823155155352584-55352606
32PCSK910.9889369889369923207955521732-55521733, 55521827-55521828, 55521831, 55521842-55521850, 55524268-55524275, 55529157
33ALG610.9699346405228846153063870140, 63870155, 63872734, 63876826-63876831, 63876837, 63876847, 63876864-63876865, 63876868-63876869, 63881561-63881590, 63885062
34LEPR10.88622069754145398349866058354-66058383, 66058401-66058409, 66058431-66058449, 66058451, 66058461-66058465, 66058502-66058543, 66062136, 66062264, 66062269-66062270, 66064466, 66064470, 66067187-66067188, 66067191, 66067303, 66067308, 66067314, 66067534, 66067565, 66070863, 66074436-66074446, 66074462-66074479, 66074541, 66074544, 66075650, 66075919-66075952, 66075979, 66081727-66081759, 66081782-66081826, 66081883, 66083656, 66083669-66083674, 66083681-66083717, 66083737-66083771, 66083793-66083811, 66083822, 66085657-66085661, 66085681-66085706, 66087140
35CTH10.86453201970443165121870877099, 70877137-70877138, 70877160, 70877179-70877233, 70881649-70881650, 70883628-70883635, 70883639-70883642, 70883681-70883683, 70887279-70887290, 70887323, 70887340-70887345, 70889971-70889988, 70890027-70890028, 70890040-70890047, 70890058, 70890061, 70890084, 70890092, 70895521, 70895530, 70896030, 70897787-70897820, 70904410
36RPL510.99888143176734189493300437
37ABCA410.99985341542071682294528820
38DPYD10.95743989603639131307897847949-97847963, 97847974-97848017, 97981374-97981378, 97981427-97981429, 98187066-98187068, 98187083-98187089, 98187122-98187123, 98187130, 98348820-98348824, 98348848-98348888, 98348911-98348915
39AGL10.9989128071319954599100387120, 100387194-100387197
40COL11A110.975444383360821345457103364286, 103379195-103379243, 103379918, 103379955-103379961, 103380350-103380362, 103381222-103381237, 103385867-103385894, 103388892-103388908, 103400647, 103488514
41GSTM110.4703196347032348657110230496-110230531, 110230792-110230804, 110230854, 110231302, 110231721, 110231728, 110231741-110231751, 110231859-110231947, 110232893-110232988, 110233076-110233126, 110233133-110233179, 110235917
42AMPD110.807486631016044322244115215828-115215839, 115218179, 115218187, 115218194, 115220968, 115221061, 115221072, 115222200-115222216, 115222237-115222253, 115222896, 115222919, 115222933-115222948, 115222982-115223014, 115223044-115223045, 115223065, 115223071-115223089, 115223093-115223096, 115226877-115226883, 115226930, 115226964-115226966, 115229366-115229414, 115229430-115229518, 115229524-115229531, 115231182-115231315, 115236057-115236068
43NRAS10.994736842105263570115251247, 115256458, 115258681
44CASQ210.99561200116269620, 116287480, 116287490-116287493
45HSD3B210.600536193029494471119119958049, 119958060-119958103, 119958114-119958154, 119962048, 119962053, 119962072, 119962102-119962139, 119962156-119962197, 119964439-119964466, 119964521, 119964572-119964605, 119964616-119964622, 119964639-119964685, 119964704, 119964708, 119964778, 119964781, 119964784, 119964805, 119964833-119964853, 119964865-119964866, 119964874, 119964877, 119964883, 119964933, 119964949, 119964977, 119964986, 119964997, 119965019, 119965039, 119965049, 119965056, 119965060, 119965077-119965083, 119965093-119965136, 119965168-119965183, 119965192-119965243
46NOTCH210.984492988133761157416120510833, 120512245-120512249, 120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572547, 120572572, 120611961-120611967, 120612000-120612010
47HFE210.999219359875111281145415568
48PRPF310.98830409356725242052150297510-150297520, 150297528, 150298238, 150305649, 150307406, 150307605, 150307618, 150310736, 150315894-150315895, 150315907, 150316640, 150318576, 150325432
49CTSK10.99595959595964990150772079, 150772177-150772178, 150772183
50FLG10.86804529788282160812186152276135, 152276296, 152276430, 152276454-152276493, 152276626, 152276667-152276676, 152276715-152276742, 152276796, 152277014, 152277095-152277140, 152277243, 152277259-152277260, 152277430-152277432, 152277436-152277443, 152278030, 152278047-152278049, 152278220-152278250, 152278409, 152278431-152278437, 152278612-152278618, 152279192-152279205, 152279366-152279410, 152279584-152279590, 152279661-152279663, 152279666, 152279673-152279676, 152279723-152279749, 152279786, 152279971-152280005, 152280061, 152280065, 152280069, 152280074-152280075, 152280078, 152280169, 152280250, 152280274-152280297, 152280329-152280375, 152280535-152280562, 152280594-152280649, 152280825-152280859, 152280890-152280935, 152281043-152281068, 152281095-152281120, 152281150-152281163, 152281220-152281222, 152281287, 152281291-152281304, 152281400-152281418, 152281464-152281471, 152281565-152281571, 152281581-152281637, 152281761-152281797, 152281872-152281914, 152281992-152282010, 152282060-152282079, 152282105-152282138, 152282158-152282187, 152282245-152282259, 152282291, 152282305-152282306, 152282320-152282322, 152282433-152282443, 152282520-152282533, 152282684, 152282870-152282882, 152282928-152282942, 152283088-152283093, 152283191-152283197, 152283247-152283289, 152283349-152283355, 152283398, 152283467-152283483, 152283512-152283557, 152283798-152283801, 152283804, 152283812, 152283907-152283947, 152283993-152283999, 152284018-152284051, 152284074-152284092, 152284175-152284217, 152284236-152284259, 152284329-152284357, 152284411-152284453, 152284518, 152284523, 152284854-152284856, 152284992-152285031, 152285110, 152285113, 152285119, 152285134-152285155, 152285216-152285218, 152285227, 152285279, 152285362, 152285477-152285523, 152285604, 152285686, 152285722, 152285726-152285736, 152285861, 152285892-152285911, 152285988-152286025, 152286146-152286148, 152286157, 152286166, 152286179-152286193, 152286277, 152286466, 152286784, 152287192-152287198, 152287861
51HAX110.991666666666677840154248129-154248135
52GBA10.9991645781119511197155187144
53LMNA10.9788359788359812567156105008, 156105045, 156105710-156105715, 156105812-156105814, 156105819
54LMNA10.98796992481203241995156105008, 156105045, 156105710-156105715, 156105812-156105814, 156105819, 156107011-156107017, 156107501, 156108287-156108288, 156108300, 156108448
55SEMA4A10.9925634295713172286156131137-156131150, 156131162, 156131182, 156131302
56SDHC10.8901960784313756510161326535-161326539, 161326544-161326556, 161326579-161326616
57DDR210.684190031152658112568162722887-162722889, 162722942-162722987, 162724419-162724421, 162724430, 162724438, 162724454, 162724582, 162724950-162724962, 162724992, 162725032, 162725044, 162725053, 162725087-162725090, 162725476-162725503, 162725513-162725549, 162725554-162725559, 162729706, 162729718, 162729725, 162729736-162729769, 162731001-162731047, 162731090-162731106, 162731112, 162731124, 162731139-162731200, 162731213, 162731224-162731236, 162735791-162735815, 162735829, 162735840-162735853, 162737020-162737022, 162737028, 162737034-162737040, 162737098-162737117, 162740152, 162740155-162740158, 162740228, 162740279-162740302, 162741843-162741880, 162741906-162741908, 162741980, 162743259-162743309, 162743334-162743368, 162743378-162743386, 162745442-162745478, 162745550-162745559, 162745569, 162745573, 162745612-162745617, 162745621, 162745961, 162745976, 162746008-162746038, 162746098-162746107, 162746145-162746160, 162748381, 162748390, 162748418-162748462, 162748503-162748505, 162748511-162748515, 162749902-162749922, 162749929-162749972, 162750026-162750036
58SLC19A210.98995983935743151494169438015-169438017, 169439338-169439348, 169454836
59F510.97617977528091596675169484733, 169497206, 169510269-169510275, 169510337-169510383, 169510472-169510478, 169510499-169510527, 169510666-169510704, 169519906-169519907, 169519910, 169524550-169524574
60LHX410.99147485080989101173180199680, 180217482-180217488, 180217590, 180243524
61RNASEL10.9986522911051232226182544711-182544713
62HMCN110.9769931393423238916908185891614, 185972884-185972887, 185972905, 185972940, 185976305, 185984296-185984318, 185984327-185984367, 185984457-185984506, 185984530-185984554, 185984562-185984569, 185985090-185985100, 185985116, 185985124, 185985128-185985129, 185985149-185985150, 185985162-185985163, 185985182, 185985195, 185985230-185985260, 185985344-185985371, 185986132-185986143, 185987350, 185987355-185987359, 185987441-185987452, 185987467-185987484, 185988673-185988676, 185988683, 185988687, 185988690, 185988693, 185988768-185988780, 185988791-185988797, 185988811-185988816, 185988821-185988827, 185992170, 185992175-185992179, 185992216-185992249, 186007085, 186007098, 186008059, 186010156-186010158, 186010164, 186014921, 186017917-186017919, 186017922, 186017930-186017933, 186017939, 186017945, 186024705-186024707, 186077695, 186086688, 186086691, 186101539
63CFH10.99404761904762223696196643035-196643040, 196659206, 196684746, 196709812, 196712586, 196714954, 196716319, 196716337, 196716356, 196716389-196716396
64CFHR110.996978851963753993196797244, 196801042, 196801078
65CHIT110.9992862241256211401203194186
66CD4610.97416666666667311200207956637-207956664, 207958432, 207958436, 207959006
67USH2A10.9502850919341477615609215820942-215820950, 215820956, 215823959-215823961, 215914769, 215914778-215914779, 215914836-215914879, 215916519-215916677, 215953188, 215953205, 215955384-215955397, 215955487, 215955492, 215956235-215956241, 215960167, 215987078-215987120, 215987131-215987246, 215990339-215990537, 216017780-216017791, 216019167-216019171, 216019181-216019182, 216019222-216019228, 216019361-216019366, 216172380, 216369967, 216380717-216380723, 216496816-216496931, 216496963-216496971, 216497566-216497567, 216497571-216497572, 216497672, 216497675, 216498748
68LBR10.99134199134199161848225607430-225607444, 225607477
69PSEN210.998515219005221347227071479, 227071483
70ADCK310.98353909465021321944227152809, 227152908-227152910, 227152921, 227174314, 227174409-227174434
71GJC210.784090909090912851320228345572-228345574, 228345718-228345752, 228345948-228345949, 228345961-228345962, 228345966-228345971, 228345975, 228345979-228345981, 228346004-228346005, 228346034-228346073, 228346093, 228346096-228346097, 228346107-228346109, 228346115, 228346162-228346163, 228346231-228346244, 228346359-228346409, 228346419-228346488, 228346530-228346575, 228346762
72ACTA110.95767195767196481134229567860-229567881, 229567917-229567932, 229568082, 229568125-229568132, 229568176
73GNPAT10.840920215369553252043231396293, 231396299, 231396346-231396348, 231396377, 231396388, 231398483-231398521, 231398529-231398553, 231398561-231398587, 231401077-231401126, 231401145-231401152, 231401156, 231401162, 231401514, 231401778-231401789, 231401829-231401875, 231402033-231402045, 231402072-231402079, 231402084-231402111, 231402131, 231402136-231402140, 231403541-231403582, 231403641, 231403648-231403649, 231406505, 231406509-231406512, 231406544, 231406624
74LYST10.90636507101526106811406235826240-235826378, 235827284-235827351, 235827765-235827768, 235827794, 235827798-235827818, 235827828-235827831, 235827842-235827871, 235827881-235827921, 235840391-235840417, 235840477-235840488, 235840780-235840813, 235840826, 235840832-235840834, 235840890-235840904, 235860408, 235860518-235860519, 235860522-235860525, 235883972-235883980, 235892915-235892922, 235894170-235894188, 235894230-235894243, 235894384-235894407, 235894442, 235894473-235894476, 235896803-235896926, 235896954-235896991, 235897130-235897165, 235897200-235897206, 235897783-235897853, 235897894-235897905, 235897916-235897959, 235904726, 235904740-235904742, 235904838, 235904864, 235904867, 235904895, 235907313-235907320, 235907336-235907370, 235938244-235938245, 235938260, 235938267, 235938362-235938386, 235940588, 235944185-235944186, 235944189, 235944199-235944205, 235944236-235944251, 235944289, 235944306-235944314, 235944347-235944355, 235945227-235945239, 235945271, 235950500-235950514, 235950575, 235950582, 235950624, 235950631, 235952027, 235952077, 235952105-235952106, 235952145, 235954999-235955032, 235955068-235955079, 235955105, 235955108, 235955203, 235955207-235955221, 235955244, 235955267, 235955412-235955414, 235955417-235955425, 235956818-235956824, 235969210
75RYR210.9891304347826116214904237433909-237433916, 237656263-237656265, 237659942-237659947, 237666589, 237666704-237666713, 237670020-237670047, 237729913-237729925, 237729965, 237729968-237730002, 237730009-237730043, 237872303, 237872307-237872309, 237881770, 237969490-237969506
76FH10.99021526418787151533241661153-241661154, 241661177, 241661228, 241661241-241661242, 241661245, 241665800-241665803, 241669428, 241682902-241682904
77NET1100.987716359575662217915454692, 5454708, 5454711-5454721, 5454724, 5454748-5454754, 5454767
78OPTN100.9665513264129258173413151235-13151269, 13174168-13174190
79DCLRE1C100.73448773448773552207914950441-14950447, 14950497, 14950549, 14950553, 14950637-14950638, 14950679-14950682, 14951047, 14951162-14951163, 14961791-14961826, 14965042-14965068, 14968842-14968849, 14968854, 14970015-14970151, 14974865-14974869, 14974888-14974907, 14974920-14974951, 14976379, 14976396-14976425, 14976461-14976519, 14976702-14976735, 14976742-14976774, 14977478-14977481, 14977485-14977487, 14977496, 14977518, 14977522, 14977533, 14977549-14977557, 14977560, 14978537-14978592, 14981850, 14981867-14981868, 14987126-14987130, 14987172-14987188, 14991035-14991037, 14991042-14991043, 14991082, 14991085, 14995904
80CUBN100.99484915378955561087216967688, 16967709, 16967727, 16970173, 16975124-16975150, 16975178-16975185, 16975267, 16979661, 16979673-16979674, 16979722, 16979752, 16979778-16979783, 16982139, 16982197, 16982213, 16982223, 17156151
81PTF1A100.1256332320162186398723481460-23481486, 23481494-23481554, 23481561-23481987, 23482006-23482048, 23482056-23482057, 23482059-23482204, 23482216-23482243, 23482633-23482650, 23482660-23482705, 23482716-23482722, 23482748-23482750, 23482763-23482766, 23482785-23482835
82MYO3A100.998350855493718485126357744-26357751
83PDSS1100.90625117124826986649-26986650, 26986691-26986697, 26986740-26986741, 26986748-26986750, 27024180, 27024188, 27024210-27024233, 27024395-27024414, 27024426-27024455, 27024502-27024508, 27031444, 27031479-27031497
84MASTL100.999241562381492263727458965, 27459802
85RET100.9781763826606973334543572707-43572779
86ERCC6100.91097724230254399448250667061, 50668431, 50669406-50669411, 50669440-50669470, 50669533-50669550, 50669591, 50679031, 50680503, 50680506, 50680992-50680995, 50681070-50681071, 50682131-50682136, 50682286, 50686484-50686491, 50690733-50690734, 50690761-50690763, 50690768-50690774, 50690788-50690794, 50690797, 50690820-50690845, 50690860-50690909, 50691393-50691429, 50691478-50691523, 50691533-50691536, 50691550, 50691555-50691557, 50708655-50708667, 50708705, 50708735, 50708740-50708742, 50732280, 50732338-50732347, 50736471-50736507, 50738769-50738790, 50738806-50738809, 50738814, 50740673-50740682, 50740794-50740795, 50740800, 50740809-50740827, 50740833, 50740852-50740854, 50740921
87CHAT100.9951045838896311224750822348, 50822358, 50822371, 50822376-50822377, 50822382-50822387
88PCDH15100.92239769060961457588955581655, 55581779-55581781, 55582125-55582129, 55582136, 55582149-55582163, 55582400, 55582968, 55587153, 55587164, 55587180-55587207, 55587255-55587308, 55591177, 55591183, 55591214-55591225, 55591239, 55591254-55591257, 55600224, 55600228, 55782666-55782680, 55782699-55782764, 55782805-55782849, 55782885-55782908, 55826517-55826535, 55826545-55826645, 55839160-55839168, 56128925, 56129005, 56138583-56138584, 56138656-56138670, 56287572-56287597, 56287637
89KIAA1279100.99946409431941186670760273
90PRF1100.9940047961630710166872358353, 72358654-72358656, 72360249-72360251, 72360254-72360255, 72360263
91SLC29A3100.997899159663873142873111481-73111483
92CDH23100.969968178202073021005673437216-73437220, 73439161-73439177, 73439207-73439225, 73439231-73439249, 73442210, 73442311-73442329, 73447416-73447419, 73447425-73447427, 73461917, 73462353-73462383, 73462448-73462451, 73464753-73464799, 73464820-73464847, 73464885-73464887, 73468964-73468966, 73472487-73472494, 73490287-73490288, 73501533, 73537487, 73537954, 73537957, 73550045-73550046, 73550079-73550099, 73550161-73550170, 73550906-73550907, 73550969, 73550976, 73550988, 73551027-73551037, 73571171-73571176, 73571712-73571731, 73573008-73573010, 73573059, 73574847-73574851
93PSAP100.995555555555567157573579515-73579519, 73580043, 73580046
94MRPS16100.9975845410628141475011688
95LDB3100.73763736263736573218488466301-88466311, 88466322-88466346, 88466356-88466379, 88466385-88466451, 88466463-88466476, 88469662-88469696, 88469707-88469747, 88469796, 88469802-88469804, 88476084-88476119, 88476149-88476190, 88476201, 88476210, 88476225-88476246, 88476255-88476262, 88476272-88476307, 88476316, 88476355-88476357, 88476361-88476363, 88476403, 88476415-88476471, 88476482-88476492, 88476518-88476528, 88477763-88477804, 88477871-88477901, 88478484-88478501, 88478529-88478530, 88478573-88478597, 88485963
96BMPR1A100.89993746091307160159988635776-88635782, 88649865, 88649903-88649935, 88651896, 88651899-88651901, 88651906-88651911, 88651952-88651968, 88659551-88659557, 88659615-88659633, 88659641-88659647, 88659784-88659787, 88659797, 88659851-88659882, 88672095-88672098, 88672114, 88683133-88683149
97GLUD1100.9731663685152145167788854419-88854425, 88854450-88854487
98ACTA2100.99735449735453113490697963, 90697966-90697967
99FAS100.9583333333333342100890762856-90762880, 90762936-90762937, 90762949-90762951, 90767486-90767490, 90768727, 90770296-90770301
100LIPA100.89833333333333122120090983457, 90983530, 90983574-90983578, 90983582, 90987957-90988010, 90988020-90988022, 90988046-90988048, 90988055-90988057, 90988082-90988131, 90988151
101ANKRD1100.982291666666671796092680054-92680070
102LGI1100.82855436081243287167495517902-95518109, 95518517-95518555, 95518562-95518577, 95537319-95537327, 95537353-95537365, 95537372, 95553007
103PLCE1100.96149949341439266690995891940-95891946, 95891992, 95892026-95892063, 95892074, 95892118, 95892133, 95892184-95892191, 96005882, 96005922-96005929, 96006358-96006369, 96012126-96012138, 96012180-96012203, 96014775-96014778, 96018604, 96018615, 96018642-96018644, 96018662, 96018670-96018671, 96018675, 96018822-96018845, 96022305-96022354, 96022383, 96022440, 96022448-96022464, 96025453, 96025600, 96039605-96039631, 96043637, 96044716, 96053290, 96053315, 96053358, 96053389, 96053392-96053394, 96058279, 96058316, 96076361-96076362, 96076366-96076367, 96076391
104HPS1100.911680911680911862106100177331-100177348, 100177369, 100177372-100177388, 100177391, 100177984, 100177994-100178014, 100183561-100183563, 100185303, 100189548-100189562, 100189592-100189593, 100189598, 100189605-100189618, 100189622, 100190328-100190357, 100190950-100190951, 100190954-100190962, 100193751-100193798, 100195074
105COX15100.9983779399837821233101486806, 101491764
106ABCC2100.99094437257439424638101552084, 101553433-101553439, 101553694-101553700, 101553742-101553751, 101563815, 101563921-101563931, 101567274-101567278
107FBXW4100.9927360774818491239103454323-103454331
108SUFU100.9786941580756311455104309795, 104309830-104309859
109SHOC2100.99199542595769141749112724243-112724245, 112724575, 112724771, 112724799-112724804, 112724807, 112724812-112724813
110EMX2100.998682476943351759119303006
111BAG3100.999421296296311728121411334
112FGFR2100.9979699553390252463123353295-123353299
113HTRA1100.767151767151773361443124221169-124221380, 124221387-124221414, 124221428, 124221431, 124221445-124221514, 124221523, 124221572-124221574, 124221607-124221626
114ACADSB100.9992301770592811299124768583
115OAT100.97954545454545271320126090398-126090408, 126091611-126091624, 126094104, 126100599
116HRAS110.7171570532636-532662, 532692-532729, 532753-532755, 533463, 533502-533532, 533547, 533766-533806, 533850, 533886-533887, 533898-533901, 533904-533905, 533915, 534226, 534287-534304
117TALDO1110.9970414201183431014747491-747493
118PNPLA2110.99669966996751515819719-819721, 819735, 824555
119CTSD110.979822437449562512391775361-1775368, 1785049-1785062, 1785071, 1785088-1785089
120TNNI2110.9836065573770595491861649-1861651, 1861759-1861762, 1861773, 1861867
121TNNT3110.292149292149295507771944785-1944802, 1946329-1946339, 1947925-1947926, 1947939, 1951040-1951046, 1951054-1951058, 1953734, 1954951-1955067, 1955161-1955238, 1955562-1955634, 1955653-1955659, 1955776-1955855, 1955870-1955885, 1956061, 1956067-1956068, 1956105-1956135, 1956139-1956141, 1956146, 1958193-1958233, 1959668-1959722
122H19110.99719887955182310712018168, 2018358-2018359
123IGF2110.330520393811534767112154217-2154414, 2154425-2154453, 2154762-2154770, 2154785-2154853, 2154861-2154895, 2156597-2156600, 2156608-2156649, 2156657-2156677, 2156728, 2156733-2156742, 2161380-2161402, 2161430, 2161439-2161444, 2161447, 2161450, 2161466-2161491
124TH110.30285714285714109815752185463-2185508, 2185520-2185521, 2185529-2185622, 2186462-2186573, 2186583-2186595, 2186898-2186984, 2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188180, 2188214-2188262, 2188665-2188715, 2189107-2189141, 2189150, 2189321-2189330, 2189345-2189386, 2189397-2189400, 2189721-2189741, 2189748-2189750, 2189754-2189757, 2189770, 2189806-2189811, 2189832-2189839, 2189851, 2189857, 2189860, 2189884-2189895, 2190880-2190884, 2190903, 2190914, 2190929-2190931, 2190954-2191057, 2191920-2191937, 2191948, 2191951-2191974, 2191999-2192000, 2192941-2192947
125KCNQ1110.8173313638601737120312466329-2466588, 2466595-2466663, 2466669-2466684, 2466702-2466714, 2592568, 2593284-2593285, 2593288-2593289, 2594165, 2797277-2797283
126CDKN1C110.202944269190337589512905237, 2905271-2905297, 2905306-2905360, 2905900-2905986, 2906006-2906505, 2906513-2906537, 2906544-2906552, 2906568, 2906577-2906578, 2906582-2906601, 2906621, 2906667-2906687, 2906710-2906718
127SMPD1110.99630801687764718966412717, 6412917-6412921, 6414599
128SBF2110.9362162162162235455509801980, 9801991, 9803056-9803059, 9803065, 9803072, 9803160-9803161, 9803165-9803172, 9806754-9806756, 9806800-9806810, 9806819, 9806822, 9806833-9806834, 9809192-9809212, 9809240-9809242, 9810680, 9810686, 9810721-9810723, 9810738, 9810826, 9810835, 9812111-9812125, 9812150-9812176, 9812190, 9812199, 9812220-9812230, 9817378-9817381, 9817405-9817439, 9817452-9817469, 9817488-9817504, 9829611-9829617, 9829696-9829697, 9989904, 9989923, 9989949, 10013975-10013982, 10014039-10014042, 10050028, 10050045-10050078, 10050102-10050104, 10051328-10051330, 10051373, 10051396, 10051420-10051422, 10052595-10052613, 10052650-10052717
129PTH110.97988505747126734813514050-13514056
130ABCC8110.996839443742115474617498289-17498303
131HPS5110.94719764011799179339018305344, 18305436-18305443, 18306905, 18306958, 18306973, 18306991-18307006, 18308138-18308147, 18308158-18308185, 18309190-18309193, 18309440-18309442, 18313163-18313171, 18313279, 18313282-18313283, 18313324-18313325, 18314469, 18317546-18317547, 18317585, 18317626, 18317638-18317640, 18317667, 18318354, 18318394-18318408, 18320487, 18320490, 18320510, 18326969-18326970, 18326982, 18327025-18327031, 18327684, 18327692, 18327737, 18327753-18327756, 18327799-18327823, 18327887, 18332374, 18339298-18339316, 18339320
132LDHA110.995995995996499918422500-18422502, 18422505
133SLC6A5110.9941520467836314239420636329, 20636337, 20636355, 20658756-20658765, 20673867
134FANCF110.9866666666666715112522646331, 22646492-22646494, 22646988-22646998
135ALX4110.994336569579297123644286683, 44286687, 44286704, 44289059-44289061, 44296981
136PEX16110.9827089337175818104145939266-45939268, 45939274-45939288
137F2110.9903691813804218186946747409-46747418, 46747558, 46748095, 46749549, 46749572, 46750372-46750374, 46750378
138MYBPC3110.9864052287581752382547353663, 47357506, 47360102-47360126, 47360184, 47360218-47360219, 47360875-47360886, 47367871, 47368988-47368996
139SERPING1110.9873586161011319150357365758-57365776
140GIF110.91945773524721101125459596975-59597018, 59599154-59599156, 59599161-59599166, 59599181, 59599203-59599211, 59599216, 59599241, 59603281-59603285, 59603296-59603297, 59603410-59603411, 59604647-59604652, 59604706, 59604711, 59604729, 59604759, 59604809-59604824, 59608670
141SDHAF2110.936127744510983250161213454-61213482, 61213490-61213492
142BSCL2110.9928005759539210138962469951, 62470016-62470021, 62472927-62472929
143SLC22A12110.68652226233454521166264359035-64359043, 64359066-64359115, 64359135-64359201, 64359213-64359233, 64359265, 64359271, 64359286-64359299, 64359324, 64359327, 64359339-64359342, 64359360-64359394, 64359423-64359430, 64360251-64360308, 64360311-64360312, 64360325, 64360334-64360335, 64360877-64360881, 64360927-64360971, 64361107-64361148, 64361153, 64361173-64361216, 64361224-64361230, 64361233-64361237, 64361240-64361242, 64367173, 64367194, 64367204, 64367218-64367224, 64367239-64367289, 64367298-64367299, 64367315-64367338, 64368230-64368236
144PYGM110.95096876235666124252964521038-64521045, 64521054-64521096, 64521145, 64521390-64521421, 64521447, 64521462-64521471, 64521490-64521492, 64521738-64521739, 64521761, 64522975-64522976, 64527153, 64527201, 64527204-64527207, 64527226-64527229, 64527232-64527233, 64527253-64527261
145MEN1110.92694805194805135184864572018, 64572025-64572035, 64572069-64572075, 64572244-64572258, 64572590-64572592, 64573115-64573122, 64573159-64573166, 64574543, 64575025, 64575028-64575038, 64575520, 64575523, 64577237-64577242, 64577259, 64577278-64577285, 64577313-64577335, 64577350, 64577354-64577355, 64577434-64577440, 64577495-64577497, 64577502, 64577506, 64577521-64577522, 64577570-64577581
146RNASEH2C110.9979797979798149565488134
147CST6110.99333333333333345065780398-65780399, 65780403
148SPTBN2110.95887355360379295717366455355-66455361, 66455679-66455682, 66467072, 66468187, 66468300-66468340, 66468637-66468652, 66468726-66468732, 66469155-66469158, 66469177-66469179, 66469185, 66472630, 66472645, 66472649-66472653, 66472676, 66472705-66472709, 66472712-66472713, 66472716-66472717, 66473252-66473254, 66474988-66475003, 66475075-66475124, 66475150-66475192, 66475225-66475261, 66475612-66475627, 66475668, 66476455-66476456, 66478120-66478130, 66478161-66478171, 66481788, 66482826, 66483364
149PC110.9855810008481851353766617427-66617433, 66617860-66617866, 66618217, 66618268-66618269, 66620014, 66620038-66620045, 66620052, 66620065, 66620275, 66633702-66633708, 66638578, 66638904-66638905, 66639162-66639163, 66639187-66639188, 66639193, 66639261-66639262, 66639303, 66639500-66639503
150CABP4110.951690821256044082867222895, 67223085-67223086, 67223093, 67223126-67223128, 67223190-67223208, 67223892-67223893, 67223904-67223908, 67225865, 67225869, 67225911-67225913, 67225977, 67225981
151AIP110.7150050352467328399367256755-67256760, 67256772-67256775, 67256787-67256857, 67256863-67256895, 67256913-67256921, 67257528-67257545, 67257583-67257590, 67257632-67257639, 67257654-67257685, 67257792-67257794, 67257799, 67257805, 67257821-67257841, 67257888, 67257892, 67257904-67257905, 67257922, 67258281-67258298, 67258341, 67258355, 67258359-67258360, 67258380-67258411, 67258424-67258431, 67258453
152NDUFS8110.909952606635075763367800433, 67800645-67800696, 67803955-67803956, 67803997, 67804001
153TCIRG1110.92539109506619186249367808739-67808749, 67809280-67809293, 67810144-67810147, 67810151-67810152, 67810197-67810203, 67810245, 67810248, 67810268-67810286, 67810933-67810939, 67811082, 67811349-67811374, 67811649, 67811652-67811665, 67811772-67811785, 67816400, 67816574, 67816577-67816578, 67816621-67816630, 67816700-67816733, 67817137, 67817175-67817181, 67817624-67817628, 67817954-67817955, 67818077
154LRP5110.9585396039604201484868080183-68080273, 68201291-68201292, 68201295, 68201298, 68204425, 68207252, 68207344-68207364, 68213954-68213966, 68216394-68216410, 68216419-68216421, 68216426-68216431, 68216443-68216476, 68216501-68216510
155IGHMBP2110.9885982562038934298268671427, 68671467-68671477, 68678908, 68696685, 68704333-68704352
156DHCR7110.999299719887961142871149991
157KCNE3110.964743589743591131274168311-74168313, 74168544, 74168549-74168551, 74168600-74168603
158MYO7A110.80851383874851273664876885929-76885935, 76885948-76885960, 76886505-76886510, 76888595-76888607, 76888629-76888631, 76888635-76888644, 76888683, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893104, 76893113-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895641, 76895678-76895691, 76895713-76895715, 76895718-76895733, 76900457-76900459, 76901065-76901072, 76901089-76901103, 76901147-76901148, 76901184, 76901793-76901830, 76901843-76901854, 76901905-76901913, 76903265-76903268, 76922321
159ALG8110.9588867805186665158177812147, 77812160, 77812223, 77812238-77812241, 77815428-77815467, 77820491, 77820523-77820536, 77820616, 77825391-77825392
160FZD4110.9888475836431218161486666102-86666119
161TYR110.9729559748427743159088911247, 88911337, 88911696, 88961059-88961097, 89018061
162MTMR2110.999482401656311193295657109
163TRPC6110.99606580829757112796101325777-101325780, 101454228-101454234
164DYNC2H1110.994978756276556512945102991296, 102991418-102991420, 102991472, 102991498-102991531, 102995838, 102999681-102999683, 103019331, 103029689, 103029736, 103229027, 103270522-103270532, 103327034-103327040
165ACAT1110.9984423676012521284108014712, 108014715
166ATM110.977974048631562029171108114680-108114681, 108119760, 108119797-108119818, 108121428-108121429, 108121523, 108121530-108121531, 108121535-108121536, 108121541-108121546, 108121619, 108121675, 108121784-108121799, 108122615-108122643, 108122696-108122758, 108123567, 108123580-108123585, 108123608-108123625, 108124562, 108124596-108124601, 108124642-108124644, 108124687-108124691, 108124749-108124751, 108124763-108124766, 108126942-108126946, 108204626, 108206633
167RDX110.921803652968041371752110104052-110104053, 110104061, 110104064-110104067, 110104154, 110104164, 110104195, 110106858-110106860, 110106863-110106872, 110106902, 110108217, 110108243-110108247, 110108250-110108299, 110108334-110108345, 110126061, 110126071, 110126077, 110128596-110128636, 110143298
168DLAT110.9969135802469161944111921993-111921997, 111933230
169SDHD110.9437527480111965550-111965576
170DRD2110.99174174174174111332113283278-113283286, 113283459, 113295226
171APOA1110.972636815920422804116706784-116706804, 116706854
172FXYD2110.988584474885845438117693283-117693287
173SLC37A4110.9971910112359631068118897772, 118897778, 118898347
174TECTA110.971693735498841836465120976616, 120979925, 120980055-120980062, 120980097, 120983851-120983857, 120984274-120984281, 120984329, 120984339, 120984378-120984405, 120989015-120989023, 120989090-120989115, 120989182, 120989185, 120989191-120989204, 120989232, 120989242-120989248, 120989288-120989312, 120989335, 120989351-120989363, 120989400-120989408, 120989415-120989422, 120996195-120996206
175ROBO3110.9997596731554914161124735491
176ACAD8110.97516025641026311248134128517-134128518, 134128904, 134129520, 134129538, 134130986, 134131071, 134131208, 134131214-134131231, 134131650, 134131686, 134131710, 134132515-134132516
177WNK1120.9938697318007781305978156-978162, 978211
178WNK1120.8189956637291912947149862894, 862897-862899, 862902-862903, 862914, 862946-862958, 862962-862966, 862987-862989, 863082-863084, 863152, 863169-863174, 863197-863203, 863240, 863246, 863251, 863350-863351, 922831-922836, 922855, 922862, 922888, 922900-922905, 922908-922913, 922917-922918, 936329, 936380, 968504-968506, 970293-970310, 980451, 987379-987380, 987416-987417, 987424, 987444, 987453-987485, 988920-988960, 989106-989127, 989179, 989900-989914, 990005-990006, 990083-990093, 990123-990127, 991111-991112, 991115-991120, 991163-991180, 992125-992127, 992221-992225, 992561-992568, 992618-992624, 992653, 992679-992681, 992684, 992689-992691, 992733-992734, 993397-993409, 993858-993887, 993946, 993951, 993954-993957, 993997, 994003-994005, 994103-994125, 994170-994191, 994215-994246, 994309, 994329-994358, 994379-994441, 994504-994523, 994527-994543, 994556-994557, 994564, 994567-994580, 994597, 994602, 994618-994660, 994667-994699, 994715-994754, 994757-994759, 994778-994846, 994855-994857, 994873-994892, 994907-994909, 994921-994944, 994963-994987, 994999, 995002, 995007-995008, 995015, 995018, 995051-995090, 995102-995147, 995153-995214, 996387-996465, 998307, 998326-998340, 998345-998384, 999620, 999633-999675, 1003728-1003734, 1005551, 1005557-1005568, 1005584-1005587, 1005590, 1005624, 1005787-1005824, 1005838-1005841, 1006693, 1006699, 1006702, 1006705, 1006800, 1006808, 1006819-1006824, 1009682, 1009693, 1009747, 1009787, 1017018, 1017026, 1017113-1017119, 1017153, 1017173-1017184, 1017194-1017200, 1017687, 1017714, 1017772, 1017776-1017785
179CACNA1C120.99908550525834665612676869-2676870, 2676879, 2705132, 2705135, 2717742
180VWF120.9606728263444733284426058307, 6058979-6058980, 6092368, 6092375-6092376, 6121279-6121285, 6122685, 6122789-6122811, 6125338-6125344, 6125718-6125753, 6125813-6125819, 6127532-6127552, 6127640, 6127657-6127658, 6127726-6127762, 6127865-6127881, 6128067, 6128076, 6128081, 6128084, 6128093, 6128231, 6128297-6128303, 6128451, 6128476-6128508, 6128544-6128560, 6128630-6128656, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033, 6138583, 6140743
181TNFRSF1A120.99926900584795113686450945
182SCNN1A120.99954275262917121876458562
183ATN1120.989924433249373635737046131-7046165, 7047143
184GYS2120.9824810606060637211221712057-21712063, 21733360-21733385, 21757460, 21757465, 21757471, 21757474
185ABCC9120.9866666666666762465022005381-22005389, 22025637, 22063868-22063870, 22068608-22068616, 22068643-22068678, 22089479, 22089568-22089570
186BCAT1120.9732988802756231116124982822-24982828, 24985780-24985797, 24989475-24989480
187KRAS120.952631578947372757025380265-25380291
188FGD4120.75445458496306565230132754212, 32754215-32754220, 32754257-32754302, 32755247-32755251, 32760897, 32760914-32760924, 32760932-32761012, 32763710-32763768, 32764071-32764217, 32772682-32772688, 32772720-32772722, 32772725-32772726, 32772729-32772761, 32777356-32777358, 32777366-32777381, 32777919-32777920, 32777946-32778002, 32778591-32778631, 32778651-32778669, 32778689-32778713
189DNM1L120.94075079149706131221132854349-32854350, 32854366, 32854372-32854373, 32854376, 32854381-32854393, 32854404-32854409, 32854426, 32854441-32854455, 32854496, 32860301-32860347, 32861103-32861128, 32866170-32866181, 32866188-32866190, 32866297
190PKP2120.94272076372315144251432949127, 32955419-32955420, 32955423-32955442, 32955445-32955451, 32955477-32955490, 32974462, 32975408-32975409, 32975476, 32977029, 33031365-33031378, 33031854-33031897, 33049443-33049451, 33049466-33049475, 33049484, 33049556-33049561, 33049566, 33049570-33049572, 33049607, 33049642-33049644, 33049649, 33049651-33049652
191KIF21A120.96710790212595164498639695370, 39696907, 39698633-39698637, 39698641, 39698646, 39698673-39698677, 39698719-39698729, 39701433, 39701459, 39701464-39701465, 39701468-39701475, 39703388-39703411, 39703434-39703440, 39703464-39703498, 39703530-39703534, 39703538, 39703542, 39703560-39703568, 39705220-39705236, 39705260-39705268, 39705337-39705340, 39705348-39705355, 39709037-39709042, 39713784
192LRRK2120.9883966244725788758440687347-40687356, 40687368-40687410, 40687461, 40689301-40689302, 40692188-40692194, 40699626-40699631, 40702977, 40713873, 40713878, 40761501-40761516
193IRAK4120.81055676066522262138344161916-44161920, 44162019, 44162030-44162031, 44162037, 44162058-44162075, 44165030-44165033, 44165036, 44166021, 44166108-44166109, 44166116, 44166151-44166157, 44166161, 44166715-44166763, 44166795-44166799, 44166819, 44166831-44166834, 44166873, 44171436-44171438, 44171442, 44171449, 44171490-44171520, 44172027-44172033, 44172069-44172070, 44172078-44172089, 44172100, 44180211-44180222, 44180259, 44180262-44180279, 44180294-44180342, 44180483-44180502
194COL2A1120.96034946236559177446448368478-48368483, 48373307, 48373312, 48375163-48375179, 48377505, 48383033, 48383045-48383047, 48383050, 48383060, 48383064, 48389038-48389048, 48389090, 48389494-48389526, 48390335, 48391469-48391471, 48391961-48391984, 48393709, 48393756-48393772, 48393792-48393793, 48393803, 48393809-48393811, 48393817-48393836, 48393851, 48393854, 48393858-48393859, 48393863-48393868, 48393894-48393908, 48398080, 48398102
195PFKM120.99957319675631234348539450
196MLL2120.99909714698447151661449427652, 49431519-49431520, 49431544, 49431675-49431678, 49431684, 49431751, 49431874, 49431879-49431881, 49434074
197KRT81120.90974967061924137151852680270, 52680275-52680276, 52682999-52683005, 52683862-52683880, 52683946, 52684032-52684061, 52684975-52685000, 52685023-52685026, 52685034, 52685063-52685065, 52685070-52685072, 52685075, 52685117-52685137, 52685184-52685186, 52685194, 52685226-52685239
198KRT86120.9507186858316272146152695887, 52696893-52696935, 52697008, 52697013, 52697074-52697092, 52697949-52697955
199KRT83120.999325236167341148252714966
200KRT6C120.9911504424778815169552865244, 52867102-52867108, 52867372-52867378
201KRT6A120.9864306784660823169552884467-52884482, 52886823-52886829
202AAAS120.9939061547836710164153709521-53709530
203GNS120.998794454490662165965141680, 65152876
204LEMD3120.998538011695914273665563616-65563619
205BBS10120.9917127071823218217276740540-76740546, 76741001, 76741007-76741010, 76741446, 76741450-76741453, 76741545
206CEP290120.97540322580645183744088443138, 88443143-88443144, 88448174, 88472883, 88472939-88472956, 88472959-88472961, 88496648-88496668, 88496680, 88496728, 88500776, 88502932-88502950, 88505124, 88505472-88505473, 88512305-88512306, 88514011, 88519036, 88519049-88519050, 88519058-88519098, 88519120, 88520095, 88520108, 88520120, 88520206, 88522799-88522802, 88523588-88523595, 88524942-88524943, 88530478, 88530538, 88532926-88532935, 88532956, 88534734-88534740, 88534757, 88534770-88534789, 88535081-88535084
207HAL120.94934143870314100197496370222-96370226, 96370236-96370240, 96370247, 96370391, 96370394, 96370397, 96370482, 96371733, 96371739, 96371758-96371765, 96371780-96371799, 96371844-96371845, 96374335-96374379, 96374611-96374618
208TMPO120.402877697841731245208598909733, 98909736-98909738, 98909883-98909918, 98921665, 98921672-98921732, 98921753-98921790, 98925482, 98925485-98925510, 98925554-98925556, 98925559-98925564, 98925588-98925612, 98926601-98926609, 98926615-98926626, 98926632-98926680, 98926700-98926732, 98926744-98926829, 98926849-98926917, 98926943-98926959, 98926974-98927022, 98927029-98927058, 98927069, 98927091, 98927095, 98927101-98927123, 98927145-98927146, 98927159-98927162, 98927166-98927168, 98927219-98927250, 98927274, 98927277-98927343, 98927375-98927396, 98927436-98927437, 98927440-98927444, 98927463-98927473, 98927477-98927491, 98927519, 98927529-98927572, 98927579-98927583, 98927610-98927787, 98927803-98927853, 98927871-98928032, 98928054-98928086, 98928095-98928120
209SLC25A3120.962350780532641108998987821-98987852, 98991723-98991724, 98992369-98992375
210SLC17A8120.9983050847457631770100774585-100774587
211GNPTAB120.9997348183505713771102224394
212MMAB120.9455511288180641753109998845-109998857, 109999260-109999276, 110002973-110002981, 110011283-110011284
213TRPV4120.89602446483182722616110221446, 110230584-110230600, 110234364, 110234476, 110236436-110236445, 110236484, 110236504-110236552, 110236570, 110236581-110236601, 110236638-110236657, 110238498-110238511, 110238517, 110238562-110238563, 110240814-110240818, 110240821, 110240856-110240857, 110240862-110240866, 110246121-110246176, 110246184, 110246199-110246206, 110246230-110246270, 110246273, 110252311, 110252350-110252352, 110252574-110252580, 110252583, 110252586
214ATP2A2120.98178331735379573129110720577, 110729839, 110729844, 110729859-110729860, 110734467-110734470, 110734475-110734479, 110734483-110734485, 110734489, 110734513-110734514, 110770453-110770456, 110770483-110770490, 110771021, 110777149-110777155, 110777333, 110777392, 110777477, 110777482, 110777519-110777525, 110778517-110778519, 110778528, 110780241, 110784200
215ATXN2120.841704718417056243942111963084, 112036589, 112036595, 112036601, 112036615-112036834, 112036867-112037087, 112037103-112037119, 112037129-112037173, 112037186, 112037198-112037235, 112037241-112037318
216SDS120.998986828774061987113835110
217TBX5120.9948619139370681557114793572-114793578, 114793763
218HNF1A120.850210970464132841896121434080-121434117, 121434149-121434169, 121434191-121434202, 121434346-121434399, 121434449-121434478, 121434497-121434519, 121434530-121434533, 121435277-121435301, 121437077, 121437088, 121437093, 121437140-121437144, 121437176, 121437286-121437290, 121437318-121437357, 121437379, 121437382, 121438879, 121438909-121438927, 121438992
219HPD120.9991539763113411182122295335
220PUS1120.94548286604361701284132414272-132414286, 132414505-132414513, 132414534, 132425890, 132425909, 132425971-132425982, 132426043, 132426088-132426100, 132426159-132426164, 132426374-132426376, 132426420, 132426451-132426452, 132426464, 132428091-132428092, 132428097, 132428117
221SGCG130.99885844748858187623894896
222SACS130.8385735080058222181374023904292, 23904428-23904434, 23904692-23904693, 23904709, 23904804, 23905320-23905366, 23905395, 23905417-23905418, 23905522-23905537, 23905607-23905610, 23905662, 23905680, 23905711, 23905738-23905759, 23905784-23905826, 23905856-23905871, 23905977-23905996, 23906054-23906077, 23906332-23906333, 23906350, 23906465-23906474, 23906566-23906567, 23906595-23906617, 23906668, 23906683, 23906701, 23906708-23906716, 23906756-23906758, 23906910, 23906955, 23906977, 23907067-23907073, 23907112-23907125, 23907133, 23907185-23907244, 23907319, 23907334, 23907343-23907344, 23907395-23907429, 23907453-23907471, 23907484-23907494, 23907497-23907498, 23907507, 23907532-23907538, 23907563-23907581, 23907612-23907619, 23907648-23907672, 23907693-23907738, 23907799, 23907802, 23907805-23907812, 23907821, 23907872-23907895, 23907909, 23908000-23908037, 23908099-23908102, 23908105, 23908110, 23908211-23908212, 23908249, 23908335, 23908346-23908358, 23908424-23908438, 23908466, 23908470-23908482, 23908508-23908511, 23908610-23908616, 23908642-23908671, 23908682-23908703, 23908716, 23908768, 23908811-23908847, 23908858-23908867, 23908981-23908982, 23908987, 23909050-23909051, 23909078, 23909093, 23909097, 23909162, 23909188-23909190, 23909235, 23909292, 23909403, 23909496, 23909603, 23909720-23909721, 23909754-23909763, 23909774-23909776, 23910072, 23910076, 23910113-23910122, 23910382-23910404, 23910417-23910420, 23910423, 23910428-23910430, 23910441, 23910536, 23910551-23910592, 23910641, 23910659-23910683, 23910739, 23910742-23910751, 23910777-23910792, 23910811-23910815, 23910830-23910846, 23910877-23910878, 23910937, 23910957, 23911006-23911033, 23911046, 23911069-23911114, 23911174-23911175, 23911207, 23911235-23911238, 23911273-23911291, 23911295-23911296, 23911320-23911321, 23911341-23911378, 23911406, 23911437, 23911480-23911494, 23911525-23911529, 23911586-23911593, 23911682-23911692, 23911699-23911737, 23911751, 23911755-23911779, 23911863, 23911870-23911871, 23911976-23911996, 23912027-23912030, 23912061-23912067, 23912300-23912334, 23912388-23912397, 23912494-23912519, 23912619-23912625, 23912717-23912732, 23912753-23912765, 23912800, 23912833-23912838, 23912850, 23912864, 23912870, 23912920-23912931, 23912958-23912962, 23912969-23912972, 23912982-23913042, 23913070-23913079, 23913098-23913101, 23913106, 23913109-23913111, 23913176-23913218, 23913243-23913274, 23913292-23913340, 23913372-23913382, 23913410, 23913514-23913523, 23913528-23913534, 23913603-23913649, 23913806, 23913841-23913869, 23913914, 23914044-23914046, 23914127, 23914139-23914146, 23914161, 23914201-23914245, 23914260-23914297, 23914418-23914419, 23914459-23914460, 23914597-23914598, 23914638-23914644, 23914687, 23914818-23914839, 23914855, 23915015-23915042, 23915075-23915112, 23915120-23915133, 23915177, 23915260-23915267, 23915271, 23915279-23915281, 23915294, 23915329-23915330, 23915335-23915354, 23915362, 23915367, 23915423, 23915540-23915572, 23915628-23915636, 23915644, 23915696, 23915714, 23928003-23928015, 23928665-23928686, 23928825, 23928837-23928840, 23928999-23929011, 23929607-23929610, 23929757, 23930119, 23930122, 23932483-23932498, 23932533-23932557, 23939310-23939311, 23939318, 23939333-23939371, 23939374-23939376, 23942587-23942610, 23945251, 23945258-23945267, 23945288, 23945300-23945304, 23949261, 23949264, 23949354, 23949372, 23949392-23949408, 23985359-23985378
223CENPJ130.999502116006972401725486735-25486736
224B3GALTL130.975283901135637149731774222-31774230, 31774288-31774291, 31850875-31850898
225BRCA2130.8033538071560920171025732893443-32893445, 32899278, 32900238-32900240, 32900264-32900266, 32900379-32900405, 32900636-32900643, 32900676, 32903612-32903623, 32905072-32905073, 32905109, 32906416-32906438, 32906442, 32906500-32906517, 32906548-32906551, 32906609, 32906612, 32906616, 32906749-32906766, 32906785-32906807, 32906856-32906903, 32906956, 32906990, 32906993-32906995, 32906998, 32907022, 32907026-32907027, 32907064-32907066, 32907107-32907109, 32907118-32907129, 32907137, 32907247-32907291, 32907375, 32907410, 32910415-32910463, 32910482, 32910500-32910503, 32910511-32910525, 32910531, 32910545-32910605, 32910629, 32910650-32910664, 32910721, 32910734-32910735, 32910761-32910766, 32910800-32910801, 32910817-32910818, 32910857, 32910863-32910870, 32910892-32910916, 32910981, 32911008-32911116, 32911123-32911146, 32911174-32911203, 32911210-32911258, 32911282, 32911336, 32911381-32911503, 32911519-32911567, 32911577-32911608, 32911621-32911623, 32911626-32911630, 32911636, 32911646-32911683, 32911694-32911743, 32911779-32911802, 32911839-32911846, 32911905-32911918, 32911938-32911955, 32911996-32912044, 32912065-32912113, 32912176-32912184, 32912228-32912229, 32912246-32912290, 32912323-32912379, 32912383, 32912394, 32912398-32912441, 32912483, 32912526-32912539, 32912554-32912579, 32912606-32912673, 32912685, 32912702-32912706, 32912708, 32912714-32912784, 32912825-32912826, 32912829-32912831, 32912834, 32912842, 32912847, 32912854-32912858, 32912894-32912940, 32913033, 32913072-32913089, 32913097-32913143, 32913212, 32913273-32913312, 32913336-32913341, 32913387-32913430, 32913519-32913523, 32913536, 32913550-32913566, 32913570-32913579, 32913622, 32913643-32913648, 32913684, 32913704, 32913717-32913727, 32913764-32913784, 32913855-32913857, 32913862, 32913866-32913881, 32913903, 32913908, 32913915, 32913944-32913983, 32913990-32914031, 32914057-32914066, 32914119-32914132, 32914285-32914293, 32914352-32914359, 32914424-32914443, 32914591, 32914801, 32914805, 32914945-32914963, 32914981, 32915005, 32915054, 32915208-32915220, 32915245-32915246, 32915250-32915251, 32915285, 32920964-32920984, 32930707-32930710
226SPG20130.999000499750122200136905596, 36909464
227FREM2130.9989484752891710951039265067-39265073, 39266155-39266156, 39450255
228SLC25A15130.953642384105964290641367403-41367415, 41382658-41382684, 41383784, 41383797
229TNFSF11130.99895178197065195443148531
230RB1130.9655543595263796278748916735-48916740, 48916750-48916752, 48916755, 48916769-48916824, 48916850, 48919313-48919314, 48921961-48921981, 48923094, 48923105, 49039341-49039343, 49039442
231RNASEH2B130.972310969116082693951530575-51530600
232EDNRB130.999247554552291132978477654
233SLITRK1130.997130559540896209184453752-84453757
234GPC6130.998800959232612166894482613, 94482643
235ZIC2130.881801125703561891599100634332, 100634335, 100634391, 100634395-100634410, 100634535-100634560, 100634586-100634603, 100637659-100637661, 100637669-100637670, 100637673-100637683, 100637692, 100637733-100637758, 100637788-100637834, 100637847-100637855, 100637862, 100637868-100637871, 100637873-100637894
236PCCA130.98399634202103352187100741410, 100807236, 100807245, 100807277-100807308
237FGF14130.993412384716735759102379096-102379100
238F7130.330337078651698941335113760156-113760192, 113760215-113760219, 113765006, 113765022-113765068, 113765074-113765132, 113768085-113768090, 113768191-113768202, 113768238-113768274, 113769982-113770114, 113771143-113771175, 113771787-113771807, 113771843-113771892, 113772727-113772862, 113772873-113772915, 113772927-113773014, 113773022-113773039, 113773086, 113773100-113773158, 113773169-113773205, 113773229-113773262, 113773286-113773322
239F10130.837082481254262391467113777170-113777224, 113777229-113777239, 113795270, 113795307, 113795346-113795347, 113798226-113798270, 113798301, 113798307-113798341, 113798374-113798378, 113803260-113803266, 113803319, 113803323, 113803401-113803410, 113803415-113803417, 113803541, 113803554, 113803566-113803614, 113803671, 113803674, 113803693, 113803696, 113803806, 113803809, 113803816, 113803820-113803822
240GRK1130.98936170212766181692114325948-114325949, 114325952, 114325960, 114426075-114426088
241TEP1140.98642820903095107788420840953, 20841180, 20841183, 20841270-20841273, 20841520, 20844020, 20844391, 20844394, 20848523, 20848632-20848633, 20850467-20850471, 20851754-20851777, 20854613, 20854617-20854638, 20854696, 20854701-20854709, 20854714, 20854755, 20856088, 20856124-20856150, 20863677
242PNP140.99770114942529287020942981, 20942986
243SLC7A7140.996744791666675153623244711, 23245509-23245511, 23248021
244PABPN1140.934853420195446092123790700-23790702, 23790794-23790800, 23790872-23790888, 23790956-23790957, 23790961-23790985, 23791016-23791021
245TGM1140.9820700896495544245424718598-24718605, 24718608-24718614, 24718707, 24723479, 24723920, 24724252, 24724287-24724289, 24724299, 24724333, 24724395, 24724427-24724434, 24725270-24725272, 24727583, 24728929-24728935
246FOXG1140.84761904761905224147029236674-29236725, 29236749-29236845, 29236854-29236856, 29236867-29236938
247CFL2140.98403193612774850135182099-35182105, 35182696
248NKX2-1140.994195688225547120636986829-36986833, 36986893, 36986900
249FANCM140.9850333496014392614745623966, 45644448, 45644451-45644452, 45644818-45644832, 45645034-45645040, 45645685, 45645895, 45650633-45650645, 45650720, 45650857, 45650902, 45653013-45653015, 45653031-45653032, 45654477-45654504, 45654542-45654550, 45658027-45658028, 45658467-45658469, 45667850
250MGAT2140.9680059523809543134450088120-50088162
251C14orf104140.998011137629285251450100936-50100937, 50101229-50101231
252ATL1140.998796630565582166251057681, 51057691
253PYGL140.94575471698113138254451375616-51375626, 51378475, 51378986-51379018, 51379756, 51379767-51379788, 51381438-51381459, 51381515-51381533, 51382074, 51390687-51390689, 51390733-51390741, 51401874-51401882, 51404488-51404491, 51411086-51411088
254GCH1140.985391766268261175355332079, 55369203-55369211, 55369259
255SIX6140.98920377867746874160976677-60976681, 60977811-60977813
256SYNE2140.954738467477329382072464444706-64444735, 64447385, 64447704-64447710, 64447781, 64449375, 64450455-64450457, 64457192-64457199, 64457265-64457269, 64457765-64457780, 64461762-64461768, 64465046, 64469828, 64483206-64483211, 64484338-64484353, 64488033-64488059, 64488069-64488071, 64488081-64488090, 64488109, 64488113-64488118, 64488124-64488136, 64488139-64488141, 64488143-64488161, 64488178-64488181, 64488184, 64488196-64488197, 64488224, 64488639-64488661, 64488695-64488697, 64488737-64488746, 64489469-64489487, 64489558-64489581, 64490975, 64490998, 64491038-64491039, 64491142-64491171, 64491174, 64491695, 64491717, 64491740-64491749, 64491902-64491945, 64491955, 64491967, 64492019, 64492072-64492081, 64493396-64493402, 64494244-64494250, 64494275, 64494278-64494294, 64494335-64494344, 64496613-64496630, 64496638-64496670, 64496685-64496730, 64496749, 64497734-64497738, 64497776-64497778, 64497790-64497811, 64497814, 64497828, 64497837-64497861, 64497886-64497903, 64497922-64497938, 64497943-64497958, 64497973-64497976, 64497980-64497990, 64498023-64498026, 64498036-64498039, 64498053, 64516472, 64516578, 64518460, 64518466, 64518472-64518473, 64518561-64518564, 64518807-64518809, 64518969-64518971, 64522900, 64529469-64529480, 64529488-64529494, 64529502-64529568, 64529603-64529613, 64532182-64532199, 64532211-64532228, 64532248, 64532251-64532266, 64532335, 64532364, 64537377, 64537456-64537498, 64537525-64537530, 64537549, 64537553, 64556322, 64556375, 64580170-64580173, 64580260, 64580269-64580272, 64588845, 64591797-64591798, 64591922-64591928, 64593045-64593050, 64593060-64593066, 64593070-64593073, 64593113, 64593121-64593123, 64596803-64596817, 64596867-64596870, 64596961, 64685224-64685230
257ZFYVE26140.9906824146981671762068264841, 68265038-68265050, 68271942-68271947, 68272223-68272224, 68274173-68274194, 68274443-68274460, 68274516-68274522, 68274621, 68275918
258PSEN1140.9786324786324830140473637645-73637662, 73637685-73637694, 73637721-73637722
259EIF2B2140.9214015151515283105675469739, 75469744-75469747, 75469845-75469848, 75470283-75470311, 75471463-75471469, 75471497-75471513, 75471558, 75471575, 75471585-75471603
260MLH3140.9972489683631412436275497269-75497270, 75506708-75506717
261ESRRB140.9515389652914274152776964612-76964643, 76964666-76964707
262VIPAR140.9554655870445366148277910621-77910623, 77914882, 77916081, 77917562, 77917570-77917572, 77917610, 77917619, 77917648-77917676, 77919685-77919707, 77919710, 77920441, 77920444
263TSHR140.9938997821350814229581534609-81534622
264GALC140.90816326530612189205888406272-88406286, 88407858-88407861, 88411985, 88414072, 88414177, 88416239-88416262, 88417023-88417049, 88417091-88417092, 88431876-88431885, 88434766, 88434773-88434774, 88448551, 88448554, 88450738-88450757, 88452840-88452877, 88452945, 88459431-88459470
265TTC8140.9418604651162890154889305848, 89307798, 89310159-89310176, 89319369-89319394, 89323548-89323568, 89323571, 89323595-89323601, 89323611-89323621, 89327566-89327567, 89327606-89327607
266ATXN3140.99631675874774108692549599-92549602
267VRK1140.984047019311519119197321689, 97342422-97342438, 97342444
268AMN140.1204111600587411981362103389032-103389068, 103390050, 103390076-103390166, 103390272-103390273, 103390291-103390297, 103394763-103394809, 103394821, 103394847-103394850, 103395095-103395261, 103395275-103395312, 103395458-103395591, 103395765-103395842, 103395862-103395873, 103395992-103396026, 103396045-103396074, 103396261-103396297, 103396303-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
269INF2140.80967143750105167788-105167790, 105167860-105167861, 105167964, 105167969-105167982, 105169644-105169650, 105169756-105169759, 105170270-105170280, 105172401, 105172418-105172458, 105172503, 105172506, 105173285, 105173292, 105173697-105173727, 105173751-105173821, 105173831, 105173848-105174147, 105174167-105174215, 105174229-105174236, 105174261-105174262, 105174309, 105174319, 105174328, 105174336-105174339, 105174890, 105174893-105174896, 105176034, 105176441, 105177313-105177323, 105177330, 105177333, 105177455, 105177472-105177504, 105179247-105179275, 105179589-105179617, 105179802, 105179806, 105180542-105180547, 105180770, 105180773-105180776, 105180837-105180845, 105181013-105181018, 105181024, 105181157-105181172
270NIPA1150.8202020202020217899023086234-23086411
271SNRPN150.986168741355461072325222114, 25222128-25222132, 25222138-25222140, 25222150
272UBE3A150.54375951293761199262825601910-25601931, 25601953, 25601986-25602010, 25602027-25602033, 25605596-25605597, 25605612, 25605642, 25615713-25615817, 25615845-25615856, 25615872-25616010, 25616029-25616125, 25616132-25616202, 25616210-25616221, 25616251-25616306, 25616318-25616365, 25616394-25616442, 25616464-25616588, 25616594-25616639, 25616652-25616824, 25616834-25616890, 25616899-25616959, 25620645, 25620655-25620684, 25620687, 25620740-25620779, 25620790, 25620848-25620854, 25620893-25620895, 25620898-25620902, 25620910
273OCA2150.997218911402467251728230234-28230240
274SPRED1150.997003745318354133538614606, 38643215-38643216, 38643298
275CHST14150.99734748010613113140763527-40763529
276CAPN3150.998774509803923244842678437, 42682250-42682251
277TTBK2150.9973226238286510373543038000-43038007, 43038012, 43103909
278STRC150.9816066066066198532843897034-43897036, 43900150-43900173, 43901476, 43901491, 43907745-43907751, 43908275-43908288, 43910437-43910443, 43910863-43910903
279STRC150.9892307692307721195044007207-44007213, 44007737-44007750
280SPG11150.96576650300055251733244859685, 44865004-44865007, 44867119, 44888998-44888999, 44898223-44898234, 44900675, 44900781-44900783, 44903061-44903068, 44903102-44903136, 44903146, 44918679, 44941064-44941102, 44941120-44941169, 44943695, 44943717, 44943720, 44943846, 44943859-44943864, 44943930-44943965, 44951277, 44951288-44951291, 44951353-44951359, 44951397-44951403, 44951406, 44951412-44951417, 44951431-44951443, 44952718-44952725
281GATM150.9842767295597520127245658308, 45658318, 45658329, 45658355, 45658599-45658604, 45670616-45670621, 45670625-45670628
282SLC12A1150.999696969696971330048551495
283FBN1150.98816155988858102861648719914-48719915, 48729232, 48729528, 48729531, 48730101-48730102, 48737575, 48737662, 48737677-48737680, 48740988, 48740995-48740996, 48741074, 48744780-48744797, 48744812, 48752482, 48752485-48752486, 48752507, 48755319-48755330, 48755401-48755403, 48756181, 48760191-48760194, 48760197-48760205, 48760261-48760262, 48782201, 48791184-48791199, 48797287-48797289, 48808435-48808438, 48905207-48905212, 48905237
284CEP152150.97240684793555137496549059320-49059326, 49059532-49059544, 49059566, 49059578-49059583, 49059633-49059648, 49060478, 49060488, 49061167-49061190, 49061200, 49061261-49061278, 49073430-49073467, 49097776-49097779, 49097840-49097846
285SCG3150.9900497512437814140751974718-51974725, 51981547, 51981551, 51988127-51988130
286TPM1150.9906432748538885563335910, 63335990-63335994, 63336005, 63336008
287SPG21150.6752966558791830192765255961-65255963, 65255976-65255984, 65256008-65256011, 65257661-65257705, 65257731-65257801, 65261594-65261611, 65261621-65261623, 65261638-65261640, 65261692-65261699, 65262452-65262560, 65267032-65267033, 65267041, 65267046-65267047, 65275879-65275901
288CLN6150.974358974358972493668500488-68500500, 68500546, 68504037-68504040, 68504156, 68506700, 68506703, 68510910-68510911, 68510988
289HEXA150.9641509433962357159072668067-72668071, 72668076, 72668079-72668080, 72668125-72668158, 72668207-72668216, 72668309-72668313
290BBS4150.998076923076923156073020328, 73023937, 73023952
291HCN4150.94545957918051197361273614885, 73614911, 73614914, 73614917, 73614922, 73615151-73615168, 73615298, 73615415-73615424, 73615904-73615908, 73659915-73659916, 73660028, 73660032, 73660036-73660037, 73660043, 73660086-73660089, 73660136, 73660141, 73660147-73660155, 73660164-73660166, 73660199, 73660202-73660205, 73660208, 73660211, 73660217, 73660221-73660223, 73660244, 73660253-73660302, 73660343, 73660376, 73660390, 73660394, 73660398-73660402, 73660410-73660421, 73660448-73660453, 73660456-73660458, 73660493, 73660547-73660582, 73660608-73660611
292PSTPIP1150.24380495603517946125177310489-77310491, 77310503-77310505, 77310539, 77310544, 77310552-77310567, 77310570, 77310585-77310589, 77310798-77310799, 77310812-77310816, 77310823-77310825, 77310835-77310838, 77310845-77310872, 77317625-77317648, 77317657-77317659, 77317839-77317845, 77317856-77317860, 77317888-77317945, 77320209-77320239, 77320895-77320929, 77320958, 77320964-77320989, 77321879-77321885, 77321900-77321915, 77322843-77322870, 77322880-77322922, 77323521-77323537, 77323546-77323619, 77324639-77324735, 77325203-77325215, 77325227-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
293FANCI150.9859543516428456398789790879-89790902, 89801943-89801950, 89801999-89802007, 89805052-89805066
294POLG150.998387096774196372089876828-89876833
295MESP2150.9195979899497596119490319596-90319599, 90319759-90319765, 90319769, 90319853, 90319859-90319864, 90319874-90319888, 90319922, 90319996-90320012, 90320016, 90320131-90320142, 90320146-90320151, 90320157-90320158, 90320161, 90320163-90320164, 90320246-90320265
296BLM150.9849553361542164425491303427, 91303996, 91304001, 91304009, 91304164, 91304214, 91304286-91304288, 91304421-91304427, 91312798, 91328168-91328185, 91328206-91328212, 91328221, 91328271, 91328274, 91337400, 91337404-91337410, 91337415, 91337418, 91337461, 91337556, 91337559-91337562, 91337568, 91337584-91337585
297IGF1R150.9975633528265110410499192872-99192875, 99192880-99192881, 99192901-99192904
298HBZ160.68764568764569134429202957-202981, 203922, 203925-203926, 203935, 203959-203976, 203994-204028, 204042-204046, 204058, 204063-204066, 204071-204078, 204271-204274, 204282-204304, 204317-204323
299HBA2160.66433566433566144429222912-222927, 222966-223006, 223162-223168, 223256-223279, 223300, 223303, 223312, 223471-223477, 223490-223535
300GNPTG160.9934640522875869181402003, 1402008-1402011, 1402289
301CLCN7160.931761786600516524181496632-1496638, 1496690, 1497017-1497044, 1497393-1497429, 1497437-1497441, 1497461-1497463, 1497470-1497486, 1497490, 1498750-1498756, 1498987-1498993, 1499044-1499045, 1499277-1499290, 1500606, 1500609-1500611, 1500636, 1500639-1500640, 1500661-1500667, 1502786-1502793, 1506160-1506161, 1506164, 1507338, 1524924-1524931, 1524935, 1524940
302IGFALS160.7862318840579741319321840629, 1840632, 1840638-1840661, 1840691-1840730, 1840770, 1840774-1840777, 1840786, 1840790, 1840794-1840797, 1840822-1840825, 1840839, 1840848, 1840872-1840913, 1840952-1840969, 1841010, 1841015, 1841032-1841063, 1841071-1841112, 1841151-1841181, 1841211-1841233, 1841269-1841318, 1841393-1841398, 1841450, 1841459, 1841464-1841466, 1841470, 1841500-1841506, 1841533-1841540, 1841545, 1841558, 1841567-1841569, 1841572-1841586, 1841616, 1841625, 1841697, 1841702, 1841781, 1841812-1841813, 1841890-1841891, 1841904-1841907, 1841925, 1841953, 1842069, 1842079, 1842094-1842096, 1842199, 1842209, 1842255, 1842274, 1842283, 1842320, 1842323, 1842374-1842380, 1842413, 1842417-1842421, 1842428, 1842431, 1843643
303GFER160.205501618122984916182034220-2034445, 2034454-2034477, 2034748-2034771, 2034791-2034848, 2034857-2034863, 2034887-2034916, 2034926-2034937, 2035867-2035946, 2035954-2035966, 2035971, 2035990-2035997, 2036005, 2036023-2036029
304TSC2160.49115044247788276054242098664-2098670, 2098710, 2098746, 2103404-2103406, 2103414-2103434, 2103443, 2104409-2104410, 2108771-2108800, 2108832, 2110773-2110782, 2114277, 2114284, 2114289-2114293, 2114390, 2114412-2114413, 2114417, 2115572-2115610, 2120503, 2120513-2120514, 2120557-2120563, 2121536-2121537, 2121841-2121877, 2122272, 2122278, 2122288, 2122338-2122363, 2122937, 2124201-2124215, 2124275-2124279, 2124282-2124289, 2124333-2124381, 2125801-2125802, 2126134-2126153, 2126492-2126502, 2126518-2126565, 2127599, 2127603-2127606, 2127633-2127680, 2129033-2129102, 2129113-2129197, 2129277-2129290, 2129296-2129391, 2129397-2129429, 2129558-2129600, 2129613-2129670, 2130193-2130196, 2130224-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134607, 2134615-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138081, 2138089-2138140, 2138228-2138240, 2138243, 2138257-2138326, 2138447-2138611
305PKD1160.02532527881040912585129122139728-2140195, 2140286-2140353, 2140361-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141883, 2141889-2141907, 2142048-2142092, 2142101-2142145, 2142164-2142165, 2142170-2142172, 2142481-2142508, 2142518-2142555, 2142570, 2142581-2142582, 2142592-2142593, 2142955-2143029, 2143050-2143094, 2143545-2143665, 2143701-2143703, 2143706-2143739, 2143812-2143814, 2143827-2143900, 2143909-2143910, 2143960-2144014, 2144093-2144164, 2144174-2144177, 2144187-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165439, 2165449-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169141, 2169159-2169181, 2169308-2169333, 2169344-2169379, 2185497, 2185500, 2185503, 2185511, 2185521-2185690
306ABCA3160.997067448680351551152328979-2328983, 2331473, 2334280-2334283, 2335465, 2348528, 2367688-2367690
307SLX4160.9353315168029135655053633151, 3633263, 3639028-3639034, 3639104-3639106, 3639229-3639245, 3639249, 3639420, 3639423, 3639443-3639454, 3639480-3639489, 3639531, 3639616-3639649, 3639666-3639708, 3639765, 3639771-3639802, 3639815-3639852, 3639872-3639880, 3639908, 3639927-3639930, 3639965, 3639968-3639971, 3639995, 3640003-3640006, 3640010, 3640045, 3640218, 3640503-3640507, 3640842-3640843, 3640911, 3640923-3640931, 3640937, 3641043, 3641152, 3641273, 3642715-3642729, 3642796, 3642799, 3642812-3642840, 3642866, 3645615-3645623, 3647491, 3647536-3647537, 3647551, 3647631, 3647802-3647809, 3647882-3647883, 3647887-3647904, 3647919-3647929, 3651018, 3651022, 3651031, 3651035, 3652140
308CREBBP160.8889343703097381473293777722-3777724, 3777732-3777734, 3777748-3777838, 3777893, 3777896-3777899, 3777981, 3778004, 3778008, 3778037-3778056, 3778090, 3778119, 3778146, 3778159-3778161, 3778168-3778170, 3778203-3778231, 3778287-3778359, 3778376, 3778387, 3778402, 3778415, 3778421, 3778424-3778465, 3778468, 3778532-3778600, 3778640-3778641, 3778678-3778710, 3778787-3778842, 3778881-3778888, 3778896-3778897, 3778911-3778956, 3778974-3779027, 3779037-3779077, 3779085-3779086, 3779104-3779121, 3779136-3779138, 3779141-3779146, 3779173, 3779176-3779186, 3779189-3779196, 3779217-3779223, 3779246-3779284, 3779308-3779309, 3779369-3779370, 3779375, 3779379, 3779395-3779417, 3779449-3779459, 3779482-3779493, 3779560, 3779634, 3779640, 3779704-3779719, 3779729, 3779755, 3819215, 3819223, 3819236-3819238, 3819241, 3820576, 3820590-3820613, 3820642, 3820796-3820802, 3820855-3820857, 3828701-3828708, 3828759
309GLIS2160.17777777777778129515754382282-4382284, 4382316-4382355, 4382387, 4382390, 4382411-4382450, 4383348-4383377, 4383397-4383520, 4384802, 4384807-4384836, 4384851-4384901, 4384906, 4384922-4384978, 4385069-4385071, 4385073-4385094, 4385103-4385178, 4385276-4385286, 4385315-4385376, 4386726-4387035, 4387045-4387089, 4387102-4387230, 4387238-4387264, 4387267, 4387272, 4387279-4387280, 4387289-4387473, 4387484-4387525
310ALG1160.7311827956989237513955121978, 5127920-5127954, 5127982-5128010, 5128795, 5128814-5128820, 5128826-5128879, 5129065-5129096, 5129765-5129784, 5130955-5131007, 5131023-5131057, 5132597-5132606, 5132633-5132662, 5133746-5133758, 5134751-5134758, 5134780, 5134815-5134853, 5134876-5134882
311PMM2160.9973009446693727418898695, 8941597
312ABCC6160.8074024822695869451216244547-16244554, 16248566, 16248780-16248784, 16251599, 16253379-16253411, 16255295-16255321, 16255336-16255353, 16255379-16255386, 16255413-16255416, 16255419, 16256850-16257049, 16259480-16259655, 16259669-16259790, 16263503-16263710, 16267161-16267195, 16267238-16267250, 16302586, 16308229-16308235, 16317271
313UMOD160.999479979199171192320359886
314OTOA160.9950292397660817342021696601-21696603, 21742176-21742182, 21747694-21747700
315SCNN1G160.9641025641025670195023200784, 23200795-23200798, 23200848, 23200851-23200865, 23203767-23203815
316SCNN1B160.998959958398342192323364315, 23391918
317COG7160.95244271508863110231323400241-23400274, 23400278-23400279, 23400309-23400337, 23400362, 23400371, 23400402-23400407, 23403839-23403844, 23404630-23404631, 23409368-23409384, 23409403, 23436235-23436237, 23464166-23464168, 23464171-23464174, 23464176
318PALB2160.9969109800617811356123614780-23614782, 23614894, 23614946-23614947, 23634296, 23635361, 23635381, 23641787, 23647627
319TUFM160.9320175438596593136828854317-28854319, 28856797, 28857274-28857280, 28857303, 28857320-28857323, 28857334-28857344, 28857374-28857396, 28857407-28857427, 28857569-28857590
320ATP2A1160.96540252827678104300628895904-28895921, 28900147, 28900159-28900163, 28900189, 28900200-28900226, 28900251, 28905880-28905887, 28905928, 28906171-28906175, 28909554-28909576, 28909702-28909703, 28911902, 28912007-28912014, 28913200, 28914721, 28915516
321CD19160.997606223818074167128950266-28950268, 28950280
322PHKB160.9939061547836720328247695653, 47698846-47698849, 47703126-47703132, 47703282-47703288, 47723086
323CYLD160.998951781970653286250785648, 50825551, 50827510
324SALL1160.999245283018873397551175656-51175658
325RPGRIP1L160.89969604863222396394853636049, 53653000-53653042, 53653065-53653103, 53656205-53656227, 53670409, 53671627-53671628, 53671675-53671731, 53671763-53671764, 53672247-53672280, 53672290-53672323, 53686499-53686501, 53686761-53686767, 53686830, 53690454, 53690461-53690463, 53690491-53690501, 53691365-53691390, 53691455, 53691476-53691505, 53692347, 53692739-53692741, 53692746, 53692777, 53692781-53692784, 53706824-53706836, 53708943-53708952, 53708976-53708978, 53708984, 53726038, 53730111, 53730116-53730121, 53730136-53730137, 53730144-53730145, 53730148, 53730153, 53734590-53734615
326MMP2160.999495713565311198355513413
327BBS2160.998153277931674216656519641-56519644
328SLC12A3160.989654057549332309356899189, 56899221-56899233, 56899243, 56899253, 56901038, 56901041, 56901063, 56901101, 56901104, 56913513, 56921849, 56921858, 56921890-56921892, 56921915, 56921920-56921922, 56921925
329CETP160.9662618083670750148256996929, 57003298-57003320, 57003396-57003398, 57003400-57003419, 57003551, 57004992, 57005235
330CNGB1160.9874866879659247375657983266-57983312
331TK2160.959956709956713792466583886, 66583998-66584033
332HSD11B2160.91625615763547102121867465152-67465168, 67465204-67465287, 67465291
333LCAT160.73167044595616355132367973859-67973865, 67973910-67973924, 67973934-67973936, 67973943, 67973958-67974044, 67974063, 67974072, 67974093-67974131, 67974164-67974175, 67974189, 67974196-67974197, 67974254-67974288, 67974338, 67974379-67974381, 67976290-67976296, 67976450-67976485, 67976650-67976669, 67976773-67976783, 67976855-67976879, 67976959-67976997, 67977019, 67977028-67977030, 67977079, 67977099, 67977103, 67977885, 67977995
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335CDH1160.9856549641374138264968771319-68771338, 68771346-68771357, 68771361-68771366
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338AARS160.999312005503962290770296258, 70298861
339HP160.9983619983622122172094609, 72094757
340GCSH160.929118773946363752281129788, 81129794, 81129808-81129840, 81129869-81129870
341GAN160.9888517279821620179481348753, 81348762, 81348768-81348771, 81388064-81388068, 81388197, 81388215-81388222
342MLYCD160.84885290148448224148283932844-83932849, 83932867-83932903, 83932946-83932952, 83932980-83933014, 83933033-83933063, 83933069-83933114, 83933153, 83933189-83933238, 83933277, 83941863-83941870, 83945847, 83945880
343LRRC50160.9573002754820993217884199440-84199459, 84199469, 84199553-84199555, 84203682, 84203692, 84203696-84203699, 84203702-84203704, 84203707, 84205955-84205965, 84209841, 84211341-84211380, 84211421-84211427
344FOXF1160.997368421052633114086544211-86544213
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346CYBA160.5153061224489828558888709761-88709903, 88709955-88709979, 88712524-88712526, 88712536-88712537, 88712540-88712541, 88712544, 88712570-88712592, 88713208, 88713236, 88713524-88713571, 88714494-88714496, 88714500-88714501, 88714506, 88714519-88714522, 88717364-88717389
347APRT160.2983425414364638154388876106-88876137, 88876143-88876191, 88876200-88876232, 88876240-88876248, 88876482-88876512, 88876522-88876556, 88876831-88876842, 88876854, 88876866, 88876883, 88876891, 88876899-88876912, 88876933-88876964, 88877958-88877988, 88878016-88878029, 88878037, 88878044, 88878050-88878051, 88878056, 88878228-88878307
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349SPG7160.999162479061982238889613123, 89623467
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352PRPF8170.988727168949777970081577811, 1586845, 1586869, 1586872-1586884, 1586916, 1587772-1587789, 1587800-1587842, 1587864
353ASPA170.9989384288747319423392636
354CHRNE170.99865047233468214824802328-4802329
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357MPDU1170.98521505376344117447489322-7489332
358TP53170.966159052453474011827573929-7573931, 7573993-7574018, 7576854, 7576869, 7576874, 7576888-7576890, 7577080-7577083, 7577087
359GUCY2D170.99909420289855333127906382-7906383, 7906519
360HES7170.9955752212389436788025008-8025010
361MYH8170.9862401100791280581410297658, 10304932, 10307683-10307727, 10309600-10309632
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363PMP22170.948240165631472548315163975-15163978, 15163990-15164007, 15164024-15164026
364TNFRSF13B170.99886621315193188216855828
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366MYO15A170.8745397904276413291059318022135, 18022275-18022320, 18022565-18022570, 18022593-18022612, 18022652, 18022949, 18023059-18023063, 18023243-18023251, 18023328, 18023341, 18023357, 18023415, 18023426, 18023437-18023439, 18023478, 18023547-18023562, 18023627-18023662, 18023686-18023693, 18023704, 18023714, 18023730, 18023734, 18023741-18023752, 18023760, 18023765, 18023783, 18023807-18023809, 18023831-18023834, 18023842-18023879, 18023886-18023920, 18023939-18023966, 18023993-18024062, 18024078-18024210, 18024227-18024247, 18024263-18024335, 18024381-18024594, 18024615-18024640, 18024648-18024652, 18024669-18024687, 18024707-18024800, 18024821, 18024824-18024871, 18024875, 18024896-18024908, 18024921, 18024927, 18024932-18024968, 18025031-18025035, 18025057-18025081, 18025122-18025123, 18025128-18025129, 18025140, 18025184-18025197, 18025224-18025226, 18025273-18025281, 18025314-18025321, 18025339, 18025341, 18025351, 18025362-18025364, 18025392, 18025424-18025441, 18025460-18025465, 18025473-18025476, 18025577-18025578, 18025587-18025607, 18025622-18025623, 18025632, 18025639-18025644, 18025681, 18025695-18025708, 18027837-18027846, 18027852, 18027873, 18028527, 18030483, 18039744-18039746, 18039786-18039789, 18039896-18039911, 18039968, 18043947-18043979, 18044967-18044972, 18045425, 18045429, 18046129, 18046880-18046881, 18047242, 18047284-18047294, 18047827, 18051470, 18061100-18061105, 18070931-18070946, 18070966-18070983
367UNC119170.944674965421854072326879373-26879374, 26879420-26879457
368SLC6A4170.9936608557844712189328543167, 28543171, 28543191-28543199, 28543228
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370PEX12170.995370370370375108033903200, 33904310-33904312, 33904405
371TCAP170.99007936507937550437821645-37821647, 37821974, 37822031
372KRT10170.90655270655271164175538975094-38975149, 38975242-38975248, 38975273-38975373
373KRT14170.9718111346018340141939739509-39739515, 39741304-39741309, 39742846-39742872
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376FKBP10170.998284734133793174939969335-39969337
377STAT5B170.94670050761421126236440359580-40359620, 40359670, 40359689-40359741, 40362430, 40364163-40364165, 40368036-40368039, 40368096, 40368114, 40369444-40369453, 40370197-40370198, 40384046, 40384124-40384131
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379G6PC170.9692737430167633107441055955-41055957, 41059585, 41059589-41059615, 41063269, 41063287
380BRCA1170.737400530503981485565541201184-41201211, 41203080-41203092, 41203108, 41203111-41203124, 41215354, 41215363-41215370, 41215377-41215378, 41215381, 41215900, 41215910-41215913, 41215942-41215964, 41219625-41219667, 41219689-41219712, 41222945-41223171, 41223193-41223255, 41226348-41226366, 41226375-41226398, 41226418-41226433, 41226438-41226478, 41226496, 41226501-41226503, 41226506-41226509, 41226534-41226538, 41228505-41228579, 41228592-41228628, 41231352-41231354, 41231370-41231371, 41231387, 41231401-41231416, 41234492-41234499, 41234515-41234526, 41234577-41234592, 41243486-41243501, 41243574-41243615, 41243690, 41243718-41243719, 41243779-41243792, 41243876, 41244073-41244079, 41244265, 41244289-41244290, 41244293, 41244358-41244362, 41244365-41244376, 41244400, 41244461, 41244624-41244670, 41244718-41244742, 41244829-41244833, 41244839, 41244847, 41244858-41244860, 41244894, 41244900-41244904, 41245000-41245033, 41245046-41245048, 41245088-41245094, 41245118-41245120, 41245142, 41245237, 41245240, 41245341-41245373, 41245407-41245409, 41245513-41245521, 41245599-41245600, 41245650-41245694, 41245720, 41245723, 41245775, 41245844-41245925, 41245942-41245974, 41245990-41245992, 41246040, 41246043, 41246096-41246136, 41246154-41246217, 41246359-41246393, 41246410-41246416, 41246452-41246471, 41246498-41246512, 41246540-41246544, 41246551, 41246582-41246607, 41246659-41246667, 41246729-41246730, 41246758, 41246761, 41246765, 41246773-41246785, 41246815-41246821, 41246841-41246853, 41247880, 41249280, 41249295, 41251804, 41251892-41251897, 41256139-41256140, 41256885-41256886, 41258476-41258490
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383ITGA2B170.998076923076926312042460944-42460946, 42460972, 42460976, 42461051
384GFAP170.993071593533499129942984747-42984752, 42984755, 42985507, 42991410
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388ITGB3170.9890156316011826236745376677-45376678, 45376715-45376737, 45377926
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393ACE170.81611833715889721392161554456-61554532, 61554538-61554571, 61554578-61554621, 61554647, 61554650-61554651, 61554684-61554704, 61555292-61555293, 61555300, 61555332-61555338, 61555442-61555459, 61556440-61556452, 61556459, 61557156-61557163, 61557176-61557208, 61557232-61557244, 61557247-61557249, 61557269-61557273, 61557727-61557746, 61557771-61557841, 61557878-61557884, 61557887, 61558452-61558469, 61558499, 61558507-61558511, 61558536-61558549, 61559063, 61560474, 61560483-61560485, 61560511-61560534, 61560890-61560891, 61561241-61561245, 61561258, 61561311-61561324, 61561328-61561330, 61561691-61561693, 61561699-61561729, 61561782-61561784, 61561814-61561835, 61561842-61561875, 61561884, 61562597-61562602, 61562605, 61562685-61562695, 61564052, 61564368, 61564396-61564397, 61564403, 61564409-61564414, 61564419, 61564423, 61564426, 61566024-61566043, 61566090, 61566143, 61566304-61566307, 61566313, 61566325-61566372, 61566451-61566457, 61568373, 61568380, 61568573-61568577, 61568624-61568640, 61570830, 61570838-61570843, 61571007-61571011, 61571374, 61574555, 61574558
394GH1170.912844036697255765461994703-61994704, 61994731, 61994799, 61995243-61995273, 61995414-61995417, 61995817-61995834
395POLG2170.9609053497942457145862473959-62473962, 62473978, 62474023-62474024, 62474048, 62474051, 62476406-62476425, 62476434-62476445, 62476464-62476474, 62476477-62476481
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397COG1170.998640842677544294371199252, 71199262-71199264
398USH1G170.993506493506499138672916498-72916501, 72919020-72919022, 72919026, 72919113
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400ITGB4170.999817151215941546973753503
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402ACOX1170.999495713565311198373953598
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404GAA170.9951031829310914285978078395-78078401, 78078713, 78079597, 78082498, 78082504, 78083769-78083770, 78092063
405ACTG1170.89804964539007115112879477716, 79477773, 79477785-79477833, 79478003, 79478019, 79478275, 79478295-79478332, 79478345, 79478505-79478506, 79478541-79478551, 79479273-79479281
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407NDUFV2180.9973333333333327509102761, 9102770
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445SLC5A5190.995341614906839193217999183, 17999244-17999250, 18004664
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447COMP190.94766930518909119227418895865, 18896513-18896514, 18896526-18896532, 18899028-18899051, 18899292-18899299, 18899980-18900016, 18900069-18900082, 18900875, 18901659-18901682, 18901709
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449SCN1B190.952912019826523880735521727-35521764
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456PRX190.998176014591888438640909713-40909720
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459ETHE1190.99869281045752176544015713
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461OPA3190.979742173112341154346087891-46087901
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469KCNC3190.82145998240985406227450823503-50823550, 50823559-50823569, 50823582-50823585, 50826353, 50826397, 50826403-50826406, 50826419, 50826426, 50831645-50831678, 50831685-50831738, 50831748-50831752, 50831761, 50831764-50831765, 50831768, 50831917-50831949, 50831975-50832023, 50832184-50832339
470KLK4190.99869281045752176551412666
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472NLRP12190.9934086629001921318654307322, 54313593, 54313618-54313636
473PRKCG190.975644699140451209454385917, 54392892-54392904, 54392930-54392931, 54392964, 54392990-54392996, 54393146, 54393149, 54393180, 54393186, 54393193-54393196, 54393200, 54393203, 54393244-54393248, 54401767, 54401839-54401846, 54409966, 54410089, 54410094
474PRPF31190.98424150054631476, 54632656-54632678
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477TNNI3190.983579638752051060955667688-55667697
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479RPS720.9931623931623945853623263, 3623269-3623271
480KLF1120.9798570500324931153910183844-10183858, 10183870-10183885
481MYCN20.9856630824372820139516082607-16082612, 16082618-16082619, 16082623, 16082673, 16082676-16082684, 16082949
482MATN320.993839835728959146120202929, 20212368-20212375
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485HADHB20.9789473684210530142526496575, 26499999, 26502084-26502087, 26502930-26502939, 26505713-26505716, 26505884-26505893
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487ALK20.998971828089665486329432652-29432656
488SRD5A220.99606299212598376231805880, 31805883-31805884
489SPAST20.9891950297136720185132289144, 32289147, 32289233, 32289241-32289246, 32312639-32312647, 32379545-32379546
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492ABCG520.999488752556241195644040401
493ABCG820.999505440158261202244102384
494LRPPRC20.96821983273596133418544170910, 44171004-44171029, 44173292-44173299, 44174431, 44187738, 44200992, 44202331-44202356, 44203293-44203295, 44203314-44203334, 44204136, 44204164, 44204327, 44206965-44206997, 44207054, 44209477, 44209480-44209481, 44222956, 44222968, 44222990, 44222996-44222997
495MCFD220.97505668934241144147135034-47135043, 47136175
496MSH220.9714795008912780280547630487-47630503, 47656881-47656891, 47656950-47656974, 47672770-47672796
497MSH620.95052657359784202408348010407-48010446, 48010458-48010465, 48010472-48010514, 48010521-48010630, 48023187
498LHCGR20.996666666666677210048982759-48982761, 48982764-48982765, 48982781, 48982785
499FSHR20.9770114942528748208849189872-49189919
500NRXN120.986440677966160442550149326-50149327, 50149337-50149342, 50318465, 50318470, 50318492, 50318506, 50318512-50318517, 50318526-50318529, 50318557-50318572, 50318614-50318632, 51255392-51255394
501EFEMP120.9736842105263239148256094238, 56094280-56094283, 56102109-56102112, 56102148-56102152, 56102155, 56103844, 56144826, 56144864, 56144878, 56144886, 56144946, 56144984, 56144987-56144988, 56145060-56145072, 56145370, 56149535
502FANCL20.78102836879433247112858386911-58386913, 58387247-58387248, 58388657-58388670, 58388680-58388700, 58388727-58388773, 58390048-58390076, 58390186, 58390627, 58392879, 58392976-58393004, 58449087-58449108, 58449124-58449133, 58456988, 58456991-58456992, 58456996-58457003, 58459189-58459244
503PEX1320.9810231023102323121261258563-61258566, 61258699, 61258825-61258830, 61258932, 61258935-61258944, 61259024
504ATP6V1B120.9922178988326812154271188732, 71191568-71191572, 71192101-71192105, 71192250
505DYSF20.9883647798742174636071781060-71781061, 71797828, 71801481, 71825820-71825830, 71825865-71825875, 71847677-71847724
506SPR20.7506361323155219678673114590-73114641, 73114650-73114672, 73114720, 73114748-73114749, 73114754, 73114779-73114780, 73114810-73114811, 73114824, 73114838-73114851, 73115477-73115487, 73115490-73115494, 73115519-73115526, 73115566-73115611, 73115648, 73118476-73118481, 73118533, 73118595-73118603, 73118611-73118621
507ALMS120.8280550223928321501250473613032-73613037, 73675131-73675161, 73675178-73675184, 73675310, 73675466-73675476, 73675551-73675552, 73675621-73675622, 73675627, 73675631-73675635, 73675653-73675655, 73675662-73675664, 73675669, 73675707-73675737, 73675842-73675844, 73675852, 73675882-73675931, 73675995-73676037, 73676067-73676078, 73676172-73676198, 73676231-73676235, 73676409, 73676484-73676517, 73676550-73676585, 73676693-73676715, 73676740-73676746, 73676758-73676826, 73676872-73676895, 73676919-73676954, 73676984-73677008, 73677019-73677042, 73677175, 73677224, 73677326, 73677329-73677333, 73677360, 73677442-73677467, 73677476-73677498, 73677561, 73677652, 73677745-73677768, 73677907-73677909, 73677969, 73678102, 73678158, 73678161-73678163, 73678270-73678271, 73678309-73678324, 73678427, 73678440-73678443, 73678605-73678654, 73678678, 73678682, 73678686, 73678730, 73678769-73678808, 73678866, 73678876-73678879, 73678887-73678892, 73678937-73678984, 73679008-73679051, 73679091-73679096, 73679177-73679189, 73679209, 73679254-73679322, 73679344-73679378, 73679413-73679415, 73679454-73679458, 73679471-73679472, 73679475, 73679483-73679484, 73679517-73679519, 73679534-73679560, 73679569-73679634, 73679647-73679659, 73679675-73679707, 73679723-73679745, 73679849-73679890, 73679906-73679944, 73679972-73679985, 73679991-73680007, 73680016, 73680035-73680074, 73680096-73680109, 73680148-73680193, 73680236-73680275, 73680316-73680348, 73680501, 73680517, 73680536-73680539, 73680587-73680613, 73680619, 73680684, 73680710-73680720, 73680759-73680780, 73680919-73680936, 73681030-73681032, 73681035, 73681060-73681098, 73681115-73681118, 73681123, 73681142-73681147, 73681159-73681194, 73682347-73682348, 73682403, 73716776, 73716860-73716863, 73716902, 73716905-73716919, 73716961, 73717005, 73717059, 73717065, 73717088-73717094, 73717099, 73717112, 73717161-73717198, 73717389-73717425, 73717456-73717462, 73717498-73717541, 73717571-73717577, 73717609-73717615, 73717647-73717673, 73717708-73717716, 73717740, 73717812, 73717815-73717825, 73718050-73718052, 73718096-73718111, 73718153, 73718156, 73718162-73718167, 73718205-73718241, 73718272, 73718384, 73718387, 73718435, 73718464-73718482, 73718577-73718593, 73747126, 73761992, 73762015-73762047, 73777394-73777429, 73777460, 73777469-73777489, 73777530-73777532, 73784438, 73784447, 73784460, 73784463, 73786099-73786124, 73786130, 73786133, 73786157-73786161, 73786164-73786181, 73786188-73786226, 73786255-73786263, 73786269, 73799504, 73826528-73826533, 73826590, 73827996-73828003, 73828342, 73829395, 73835647
508SLC4A520.999121265377863341474542089, 74542098, 74542150
509GGCX20.9942907334211713227785785672, 85785679-85785683, 85787985-85787991
510REEP120.996699669967260686459788, 86459820
511EIF2AK320.998209489704576335188926730-88926735
512TMEM12720.99860529986053171796931088
513RANBP220.989560723514211019675109347230, 109357110-109357116, 109365376, 109368074-109368111, 109368376-109368382, 109370398, 109382787-109382793, 109383268-109383274, 109383672-109383678, 109384628-109384652
514MERTK20.98866666666667343000112656313-112656346
515GLI220.9997899600924214761121747429
516PROC20.914141414141411191386128177544, 128178929-128178946, 128178984-128178986, 128178997, 128179000-128179002, 128179009, 128180499-128180500, 128180610, 128180625, 128180651-128180669, 128180678-128180679, 128180702-128180747, 128180947, 128183689-128183690, 128183697-128183698, 128184761, 128184766, 128184769-128184772, 128186043, 128186048, 128186324-128186331
517CFC120.7797619047619148672131279616-131279649, 131280366-131280392, 131280435-131280477, 131280776-131280803, 131280821-131280835, 131285393
518LCT20.98634163208852795784136590681-136590689, 136590732-136590750, 136594158, 136594210, 136594213, 136594290, 136594398, 136594456, 136594460-136594466, 136594469-136594473, 136594506-136594507, 136594513-136594514, 136594517, 136594604-136594607, 136594646-136594665, 136594668-136594670, 136594678
519MCM620.99472830494728132466136598445-136598456, 136602168
520NEB20.995043556623619919974152393683-152393687, 152421559, 152432792-152432805, 152432809, 152432834-152432835, 152466323-152466330, 152466385, 152466503-152466506, 152466543-152466556, 152467050, 152467338-152467365, 152470871, 152470876-152470877, 152470882, 152470885, 152470936, 152473878-152473889, 152473937, 152476136
521CACNB420.95585412667946691563152695633, 152695724-152695735, 152698577-152698602, 152728948-152728964, 152728982-152728988, 152728993, 152729000-152729001, 152729005-152729006, 152737334
522SCN2A20.8238617480890710606018166152533-166152539, 166165764, 166166957, 166170130-166170131, 166170153-166170172, 166170177, 166170246-166170253, 166170270, 166170416-166170431, 166170459-166170480, 166170511-166170519, 166170529, 166170537, 166170585-166170618, 166171994-166172005, 166172015-166172018, 166172021, 166172027, 166172037, 166172046-166172078, 166172094-166172137, 166172193, 166172211, 166172215-166172220, 166172248-166172268, 166179908, 166179956, 166179959, 166179990-166179993, 166180000, 166183362-166183373, 166183454, 166187840-166187841, 166187862, 166187892-166188023, 166188030-166188034, 166188039-166188047, 166188054-166188078, 166198826, 166198855-166198859, 166198863-166198865, 166198871-166198877, 166198880, 166198947-166198954, 166201091, 166201097, 166201100, 166201163, 166201198, 166201230, 166201243, 166201303, 166201318-166201320, 166201411-166201412, 166201415, 166210762-166210766, 166210873-166210912, 166211024, 166211121-166211150, 166221771, 166223727-166223728, 166223744-166223770, 166223808-166223812, 166223819-166223827, 166223834, 166223838, 166223848-166223881, 166226636-166226664, 166226695-166226697, 166226712-166226744, 166226762-166226807, 166229755, 166229758-166229761, 166229789, 166229799, 166231195-166231263, 166231327-166231342, 166231355-166231412, 166231418-166231434, 166231450-166231476, 166234160, 166237138-166237183, 166237231-166237239, 166237638-166237677, 166237695-166237707, 166245227-166245233
523GALNT320.9978969505783441902166615333, 166615920, 166615969, 166616034
524SCN1A20.838752709688189675997166848050, 166848067-166848070, 166848074, 166848302-166848304, 166848314, 166848742-166848775, 166848820-166848865, 166848888-166848891, 166850759, 166850804, 166850815-166850816, 166850841, 166850844-166850848, 166850919-166850926, 166852569-166852627, 166854565-166854604, 166854644-166854645, 166854653-166854654, 166854667-166854668, 166856252-166856265, 166858988-166858998, 166859067-166859092, 166859133, 166859142-166859143, 166859151, 166859221-166859260, 166866247-166866266, 166866278, 166866290-166866301, 166866351, 166868621-166868628, 166868654-166868695, 166868698, 166868701-166868726, 166868760-166868792, 166870254-166870288, 166870318-166870322, 166870375-166870376, 166872203-166872209, 166872237, 166892566, 166892665, 166892716-166892732, 166892788-166892789, 166892899-166892906, 166892954-166892982, 166894313-166894327, 166895933, 166896050, 166896064-166896073, 166897790, 166897826-166897827, 166897830, 166897905-166897935, 166898803-166898841, 166898906-166898934, 166900299, 166900465, 166900533-166900536, 166900540-166900541, 166901644, 166901689, 166901710, 166901714, 166901718, 166901760-166901761, 166903316-166903318, 166905424-166905441, 166908229-166908262, 166908322, 166908350-166908399, 166908423-166908442, 166908493-166908494, 166909367-166909422, 166909428-166909453, 166911210-166911213, 166911264-166911275, 166912937-166912943, 166912978-166912981, 166912985-166912991, 166929933-166929946
525SCN9A20.909167509268625395934167055222, 167055374-167055405, 167055466, 167055559-167055587, 167055614-167055650, 167055807-167055815, 167055988-167056002, 167056106-167056110, 167056119-167056134, 167056208-167056216, 167060510-167060525, 167060534-167060548, 167060577-167060582, 167060608-167060611, 167060625-167060629, 167060632, 167060646-167060653, 167060658, 167060669-167060684, 167060693-167060724, 167060730-167060735, 167060870, 167060903, 167060913-167060918, 167060926-167060944, 167099158, 167149779, 167159608-167159616, 167159642-167159644, 167159743-167159744, 167159780-167159812, 167160819, 167162349-167162350, 167162371-167162373, 167162376-167162401, 167163069-167163085, 167163466-167163521, 167163564-167163584, 167168010-167168012, 167168015, 167168085-167168087, 167168093-167168095, 167168108, 167168114-167168121, 167168141-167168181, 167168205-167168213, 167168216-167168219
526ABCB1120.932929904185582663966169780157-169780205, 169780214-169780220, 169780247-169780276, 169780297-169780328, 169781176-169781203, 169781225-169781232, 169781244-169781286, 169783667, 169783688, 169783721, 169783730, 169783759, 169783851-169783857, 169787330-169787338, 169788887-169788891, 169788901-169788905, 169788909-169788910, 169791694-169791698, 169791752, 169791757, 169791927-169791935, 169792778, 169792787, 169792899-169792915, 169792936
527SLC25A1220.938144329896911262037172641810, 172650215-172650216, 172690473-172690514, 172690526-172690544, 172690566, 172691249-172691264, 172691271-172691277, 172691281-172691287, 172691312-172691326, 172693659, 172693689-172693694, 172693760-172693761, 172725301, 172750713-172750718
528ITGA620.9990842490842533276173292652, 173292655, 173355823
529CHN120.97246376811594381380175711638-175711652, 175742620-175742623, 175869622-175869640
530HOXD1320.9980620155038821032176957620, 176957673
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179446845, 179446849-179446852, 179446858, 179446914-179446935, 179447031-179447035, 179447042, 179447086-179447134, 179447243, 179447277-179447297, 179447667-179447672, 179447683, 179447705-179447721, 179447730-179447777, 179447790, 179447806-179447810, 179447842-179447878, 179447887-179447892, 179447911-179447913, 179447939-179447954, 179448334-179448387, 179448403, 179448415-179448507, 179448597-179448628, 179449016-179449023, 179449052, 179449057-179449063, 179449068, 179449078, 179449173-179449182, 179449199, 179449204, 179449295-179449296, 179449568-179449615, 179449843, 179449850, 179449854-179449856, 179449876-179449904, 179449907-179449909, 179449932-179449987, 179451316-179451338, 179451424, 179451444-179451447, 179451485-179451491, 179451909-179451955, 179451986-179452024, 179452103-179452117, 179452276-179452308, 179452380, 179452429, 179452441-179452463, 179452503-179452520, 179452639, 179452683, 179452759-179452794, 179452805-179452841, 179452862-179452866, 179452897-179452915, 179453265-179453280, 179453396-179453404, 179453458-179453459, 179453482-179453483, 179453627-179453629, 179453662-179453669, 179453691, 179453750, 179453838, 179453848, 179453886, 179454054-179454056, 179454072, 179454211-179454212, 179454420-179454421, 179454461, 179454464, 179454580-179454591, 179454606, 179454713-179454718, 179454841, 179454856, 179454924, 179455049, 179455052, 179455070, 179455077-179455078, 179455133, 179455188, 179455192-179455193, 179455240-179455241, 179455258, 179455263, 179455313-179455327, 179455364, 179455440-179455445, 179455511-179455514, 179455564-179455576, 179455600-179455604, 179455700, 179455832, 179455877, 179456020-179456043, 179456051, 179456113, 179456140, 179456343-179456378, 179456397, 179456400-179456422, 179456508-179456522, 179456546, 179456573, 179456595, 179456829-179456847, 179457233, 179457362, 179457578-179457579, 179457665-179457697, 179457900-179457921, 179457949-179457956, 179458017, 179458027, 179458180-179458186, 179458386, 179458435-179458478, 179458494-179458499, 179458541, 179458592-179458594, 179458802, 179458872-179458874, 179458912-179458949, 179459078, 179459122-179459143, 179459180-179459211, 179459239-179459255, 179459272-179459307, 179459344-179459349, 179460234-179460245, 179460361-179460366, 179460428, 179460535-179460536, 179462491-179462497, 179462725-179462741, 179463329-179463334, 179463372-179463374, 179463491, 179464011, 179464015-179464016, 179464019, 179464049-179464095, 179464121, 179464124, 179464129-179464138, 179464301-179464331, 179464425-179464445, 179464515-179464521, 179465644, 179465664, 179465771-179465778, 179466489, 179466513, 179466609-179466613, 179466616-179466617, 179466626-179466636, 179466639-179466641, 179466790-179466794, 179466801, 179466853-179466868, 179467021, 179467080-179467087, 179467108-179467151, 179467164-179467201, 179468620, 179468715-179468727, 179468757-179468780, 179468802, 179468809, 179468839-179468848, 179469020-179469029, 179469435-179469455, 179469482-179469507, 179469527, 179469550, 179469724-179469729, 179469745, 179469756-179469757, 179469784-179469802, 179469805, 179469813, 179469822-179469823, 179469826, 179469941, 179470320-179470335, 179470410, 179471756, 179471858-179471901, 179472026, 179473177, 179473348-179473350, 179473997-179474011, 179474018, 179474117, 179474491, 179474495-179474505, 179474511, 179474819-179474856, 179475091, 179475723, 179475749, 179475940-179475980, 179475994-179475998, 179476149-179476187, 179476265-179476266, 179476321-179476334, 179477053, 179477132-179477143, 179477239, 179477254, 179477522-179477552, 179477670, 179478499-179478531, 179478570, 179478629-179478631, 179478817, 179478958, 179478995-179479005, 179479203, 179479206, 179479255-179479256, 179479283, 179479626, 179479630-179479635, 179480205, 179481605-179481613, 179481851, 179482193-179482194, 179482201-179482205, 179482210-179482211, 179483551, 179483579, 179484734-179484757, 179484788-179484802, 179484828, 179484960, 179484978-179484988, 179485021, 179485117-179485119, 179485657-179485659, 179485946-179485952, 179486306-179486327, 179486571-179486599, 179486637-179486643, 179489394-179489396, 179490040-179490069, 179490097, 179494071-179494072, 179495030, 179495037, 179495531-179495559, 179495593-179495594, 179495794, 179495797, 179496945-179496948, 179496973, 179496978-179496979, 179497050-179497056, 179497067-179497069, 179497079, 179497319, 179497326-179497327, 179497482, 179497677-179497685, 179497693, 179497763, 179497937, 179498178-179498193, 179498239, 179498306-179498313, 179498323, 179498352-179498353, 179498544-179498564, 179498594, 179498602, 179498640-179498641, 179498650-179498716, 179498795-179498802, 179499093-179499098, 179499126-179499142, 179499145-179499150, 179499161, 179499166-179499231, 179499238-179499273, 179499288, 179499303, 179499315, 179499318, 179499337, 179499505-179499540, 179499558, 179499567-179499576, 179499892-179499896, 179499923-179499960, 179499970-179500005, 179500206-179500224, 179500246-179500253, 179500266-179500292, 179500342, 179500349, 179500387-179500442, 179500706, 179500720-179500721, 179500724-179500757, 179500775, 179500780, 179500784-179500788, 179500819, 179500842, 179500848-179500860, 179500927-179500932, 179500957, 179501162-179501198, 179501211-179501245, 179501258-179501294, 179501306, 179501325-179501371, 179501413, 179501459, 179501462-179501465, 179501498-179501507, 179502096-179502130, 179504434, 179504439-179504441, 179504469, 179504483, 179504496, 179504501, 179504775-179504815, 179504825-179504837, 179505318, 179505357, 179510733-179510734, 179514895-179514899, 179514914, 179523762, 179537196, 179540674, 179540684, 179542431-179542432, 179542499, 179543152-179543158, 179544686-179544688, 179544696, 179545859-179545872, 179547510-179547531, 179547625-179547630, 179548017, 179550322-179550325, 179552915-179552922, 179552930, 179554301, 179554305, 179554574, 179556756, 179558666, 179559391, 179559597, 179561887, 179566304, 179567286-179567289, 179577526, 179642624-179642672, 179643613, 179643634-179643642, 179643645-179643651, 179644018-179644024, 179644100, 179654117, 179654171-179654177, 179665137-179665140, 179667006-179667010, 179667046-179667048, 179667051
533CERKL20.89743589743591641599182409468, 182412412, 182413278-182413293, 182423305, 182423316, 182423320-182423321, 182423325, 182423329, 182423360-182423373, 182423415-182423417, 182423431, 182430785-182430795, 182430833-182430848, 182438491-182438502, 182468688-182468694, 182468701, 182468767-182468783, 182468803, 182521501, 182521544-182521545, 182521548-182521550, 182521578, 182521602-182521650, 182521682
534NEUROD120.98225957049486191071182542517-182542520, 182542587-182542588, 182542607, 182542612, 182542759, 182542855, 182542864, 182542874, 182543001-182543004, 182543413-182543415
535COL3A120.965689615996361514401189849641, 189849679-189849680, 189854122-189854132, 189854859-189854865, 189856255-189856257, 189856427-189856448, 189856934-189856941, 189858983, 189859535-189859545, 189860422-189860471, 189860851-189860879, 189860901-189860902, 189862476, 189871674-189871676
536COL5A220.943777777777782534500189916948, 189931472, 189932755, 189932783, 189932797-189932836, 189932993, 189936780-189936819, 189940151-189940155, 189943259-189943292, 189943796, 189943811-189943833, 189944704-189944724, 189944738-189944755, 189945716-189945754, 189975069-189975095
537SLC40A120.96853146853147541716190426617, 190426726, 190426861-190426905, 190426911-190426917
538PMS120.99428367274026162799190682830-190682831, 190718972-190718974, 190719042-190719045, 190719113, 190719153, 190719212, 190728573, 190732559-190732561
539MSTN20.91843971631206921128190922029-190922076, 190922098, 190922102-190922103, 190922152, 190922161-190922164, 190922238-190922244, 190922298, 190922323, 190922326, 190924974-190924980, 190925002, 190925025, 190925043-190925048, 190926950-190926956, 190927037-190927038, 190927191-190927192
540STAT120.96893031513538702253191840538-191840564, 191841641, 191841648, 191841653, 191841657, 191841668, 191843655-191843674, 191848385, 191848420-191848422, 191848432, 191848436, 191848466, 191855961, 191859842, 191859845-191859852, 191859890
541HSPD120.772938443670153911722198351805, 198351835-198351853, 198351859-198351899, 198351917-198351922, 198352582-198352635, 198352661-198352724, 198352731-198352760, 198353041-198353069, 198353090-198353125, 198353143-198353159, 198353171-198353215, 198353726-198353727, 198353782-198353793, 198353820-198353822, 198353834, 198353907-198353932, 198353960, 198355017-198355020
542ALS220.922597507036593854974202574747, 202590113-202590116, 202593253-202593256, 202593259-202593279, 202593328, 202593334-202593345, 202593358, 202593786-202593787, 202593797, 202593854-202593866, 202598093, 202598110, 202598113, 202609023-202609050, 202611331, 202611350, 202611415, 202617913, 202617919-202617936, 202617939, 202617957-202617965, 202619244, 202619319, 202619324, 202622126, 202622154, 202622160-202622164, 202622171-202622187, 202622199, 202622246, 202622354, 202622392, 202622396, 202625615, 202625651-202625658, 202625680-202625682, 202625718, 202625749, 202625753, 202625842, 202625845, 202625848, 202625858-202625864, 202625869-202625870, 202625940, 202625947-202625948, 202625957-202625961, 202625980-202625996, 202626039-202626041, 202626222-202626244, 202626255-202626300, 202626325-202626331, 202626343, 202626354-202626403, 202626415, 202626419-202626423, 202626471-202626495, 202626501-202626503, 202626532-202626541, 202631960-202631963
543BMPR220.951876804619831503117203242254-203242273, 203332253-203332318, 203332333-203332335, 203332339, 203332342-203332354, 203332361, 203332408-203332412, 203420783-203420802, 203421152-203421172
544NDUFS120.97893772893773462184207017165-207017210
545ACADL20.9992266047950511293211059989
546CPS120.842771485676227084503211455524-211455537, 211455564-211455571, 211455595, 211455598, 211455601-211455605, 211455608-211455630, 211456637-211456639, 211456646-211456654, 211456678-211456681, 211456687-211456693, 211457603-211457614, 211457651-211457652, 211457679-211457680, 211459232-211459306, 211460211-211460239, 211460258-211460277, 211464115-211464127, 211464134, 211464196-211464198, 211464260-211464285, 211465288-211465312, 211465356-211465415, 211465421-211465429, 211465434, 211466926-211466955, 211467003, 211467031, 211467051, 211467054, 211469846-211469852, 211469865-211469940, 211473198, 211473242, 211476841-211476871, 211476915-211476916, 211476919-211476924, 211477013, 211502547-211502552, 211503884, 211504731-211504734, 211504749, 211504774-211504777, 211507208-211507219, 211507236, 211507245-211507247, 211507296-211507321, 211507351, 211507372-211507389, 211515142, 211525244-211525263, 211525290-211525318, 211527889-211527921, 211532944, 211540512-211540521, 211541736-211541737, 211541785, 211541795-211541796, 211541823, 211542688-211542706
547ABCA1220.98754494093477977788215797418, 215798887-215798890, 215798894-215798895, 215798900, 215843599, 215845322-215845326, 215846911-215846915, 215846957, 215846961-215846964, 215852467, 215852470, 215854107, 215868955-215868956, 215872531-215872570, 215875080-215875082, 215875085, 215876166, 215891599, 215910574, 215910607, 215910612, 215910615-215910618, 215910626-215910627, 215910630, 215910659, 215910732, 215914354, 215914527-215914535
548SMARCAL120.99336823734729192865217339997-217340000, 217340034, 217340077, 217340083, 217343015, 217343018, 217347629-217347638
549DES20.94550601556971771413220283213-220283224, 220283256-220283266, 220283581-220283589, 220283621-220283645, 220283700-220283719
550OBSL120.99771569144263135691220435736-220435746, 220435932, 220435946
551PAX320.9960474308300461518223160355-223160359, 223161770
552COL4A320.98803111909037605013228109705, 228111406-228111436, 228137783-228137784, 228142235, 228145257-228145274, 228153952, 228162439-228162440, 228163429, 228163477-228163479
553CHRND20.999356499356511554233390947
554SAG20.98932676518883131218234224729, 234224734, 234224770-234224773, 234229295, 234238179, 234240326-234240330
555COL6A320.99832179567862169534238234247-238234259, 238234320, 238243333, 238245105
556AGXT20.98303647158609201179241808289-241808294, 241808355, 241810782-241810794
557D2HGDH20.96998722860792471566242695416-242695429, 242707158, 242707308, 242707311-242707341
558C20orf54200.9985815602836921410744308, 746098
559AVP200.69696969696971504953063307-3063361, 3063385-3063435, 3063447-3063448, 3063639-3063644, 3063647, 3063663-3063664, 3063687-3063689, 3063692-3063698, 3063773-3063794, 3063807
560PANK2200.993578517221251117133870127-3870128, 3870262, 3870268, 3870277-3870283
561FERMT1200.99557522123894920346065934, 6096648, 6100159-6100165
562MKKS200.99941622883831171310393413
563JAG1200.9879682800109444365710653349-10653357, 10653472-10653476, 10653572-10653581, 10653608, 10653611, 10653616, 10653621-10653627, 10653632-10653633, 10654159-10654163, 10654167, 10654172-10654173
564THBD200.9502314814814886172823028447-23028448, 23028451-23028452, 23028604, 23028675-23028703, 23029328-23029334, 23029386-23029390, 23029497-23029512, 23029519, 23029676-23029695, 23029801, 23029872, 23029888
565SNTA1200.83333333333333253151831996608-31996613, 31996636, 31998034-31998035, 32000381-32000412, 32000463-32000467, 32000562-32000588, 32031151-32031157, 32031166-32031232, 32031242, 32031260-32031264, 32031268-32031271, 32031290-32031291, 32031311-32031346, 32031355-32031411, 32031426
566SAMHD1200.9473684210526399188135526239, 35526243-35526250, 35526309-35526311, 35539630-35539636, 35540867-35540869, 35540941-35540955, 35547869-35547875, 35547880-35547886, 35555629-35555655, 35559267, 35563545-35563547, 35569501-35569514, 35575142, 35579990-35579991
567HNF4A200.9445614035087779142543047101-43047130, 43052659, 43052724, 43052727, 43052749-43052793, 43052816
568CTSA200.997995991983973149744520238-44520240
569CD40200.952038369304564083444757572-44757583, 44757645-44757672
570STX16200.962167689161553797857246237-57246265, 57246308-57246313, 57246323-57246324
571GNAS200.880758807588088873857415176-57415198, 57415224-57415225, 57415229-57415231, 57415243-57415244, 57415252, 57415317, 57415332-57415340, 57415460-57415504, 57415543, 57415568
572GNAS200.9836223506743751311457429069, 57429083, 57429130-57429140, 57429155-57429158, 57429447, 57429546, 57429680, 57429683, 57429687-57429688, 57429745-57429760, 57429985-57429996
573COL9A3200.7956204379562420205561448417-61448494, 61448926-61448973, 61449870-61449871, 61449902-61449905, 61450579, 61450600-61450628, 61451286-61451288, 61453122, 61453129, 61453144, 61453464-61453514, 61453948-61453956, 61453966, 61453980, 61455797-61455812, 61455837, 61455845-61455848, 61456320-61456327, 61456336-61456373, 61457573-61457609, 61458139-61458163, 61458624-61458627, 61459319, 61461169-61461171, 61461870, 61461882-61461923, 61464413, 61468518-61468526
574CHRNA4200.72186836518047524188461978109, 61978191-61978193, 61978197, 61981028, 61981031-61981032, 61981102-61981104, 61981107, 61981134, 61981291-61981299, 61981320, 61981328-61981334, 61981337-61981338, 61981347-61981356, 61981361, 61981388, 61981468-61981469, 61981491, 61981506, 61981513, 61981546, 61981550, 61981554, 61981558, 61981561-61981582, 61981605-61981615, 61981636-61981637, 61981644-61981651, 61981703, 61981709-61981717, 61981816, 61981900, 61981903, 61982029-61982033, 61982038, 61982069-61982089, 61982124, 61982131, 61982166-61982167, 61982245-61982251, 61982361-61982368, 61987327-61987422, 61987723-61987767, 61990900-61991051, 61992442-61992517
575KCNQ2200.8545246277205381261962038002-62038009, 62038012-62038015, 62038027, 62038039-62038063, 62038271, 62038325-62038328, 62038379-62038397, 62038460, 62038494, 62038570-62038572, 62038579, 62038585, 62038604, 62073759-62073773, 62103521-62103816
576SOX18200.68138528138528368115562680051, 62680056, 62680101-62680103, 62680273, 62680288-62680291, 62680512-62680869
577APP210.94898400345871118231327394178-27394207, 27394236, 27394251-27394284, 27394293, 27394303, 27394310-27394328, 27394338, 27394341, 27542890-27542917, 27542937-27542938
578BACH1210.999547715965631221130715120
579IFNGR2210.9339250493096667101434775851-34775917
580RUNX1210.9348579348579394144336252928, 36252931-36252934, 36259174-36259184, 36259210-36259243, 36259271-36259306, 36259336, 36259374-36259379, 36259392
581CLDN14210.5555555555555632072037833274-37833332, 37833378-37833406, 37833420, 37833424-37833430, 37833440-37833448, 37833456-37833459, 37833497-37833503, 37833531-37833569, 37833590-37833617, 37833676-37833718, 37833788-37833813, 37833827-37833828, 37833831-37833839, 37833923-37833955, 37833967-37833990
582CBS210.8731884057971210165644473990-44474003, 44474014-44474041, 44476918-44476943, 44476946-44476952, 44476963, 44476966, 44478949-44478985, 44480572-44480580, 44482488-44482493, 44482498, 44485313-44485332, 44488705, 44492140-44492196, 44492235, 44492278
583AIRE210.497557997558823163845705890-45705924, 45705938-45705956, 45705975-45706009, 45706440-45706460, 45706488-45706514, 45706518-45706519, 45706542, 45706594-45706614, 45706876-45706896, 45706906, 45706933-45706953, 45706964-45706966, 45706973-45706974, 45706980, 45706985, 45707016, 45707437-45707474, 45708228, 45708279, 45708282-45708288, 45708292, 45708309, 45709603-45709635, 45709656-45709679, 45709875-45709915, 45709924-45709926, 45711001-45711039, 45711059-45711085, 45712876-45712886, 45712921-45712950, 45712961-45713024, 45713042, 45713047-45713058, 45713684-45713734, 45713741-45713786, 45713793, 45714284-45714367, 45714377, 45714380, 45714386, 45716266-45716328, 45717550, 45717569-45717588, 45717591-45717592, 45717605-45717610
584ITGB2210.91515151515152196231046308625-46308629, 46308646-46308685, 46308701-46308712, 46308722-46308723, 46308726, 46308729-46308752, 46308784, 46309191-46309211, 46309245, 46309928-46309936, 46309943, 46309946, 46309993, 46310085-46310092, 46310095-46310100, 46311738-46311775, 46311783, 46311786, 46311817-46311823, 46311878, 46311884, 46311898-46311899, 46313434-46313435, 46313438, 46320375-46320381, 46326971-46326972
585COL18A1210.592022792022792148526546875460-46875491, 46875503-46875509, 46875619-46875622, 46875699-46875740, 46875881, 46875915, 46875923, 46875983-46875989, 46876027, 46876031-46876042, 46876060-46876098, 46876166-46876168, 46876214-46876232, 46876235, 46876238, 46876276-46876316, 46876392-46876424, 46876472, 46876525, 46876527-46876542, 46876555-46876590, 46876595, 46876604-46876607, 46876622-46876623, 46876639, 46876643-46876666, 46876715, 46876738, 46876747, 46876753, 46876781-46876795, 46888179, 46888208, 46888213, 46888218, 46888235-46888237, 46888342-46888383, 46888436-46888456, 46895425-46895442, 46896333-46896334, 46896363-46896394, 46897696, 46899852-46899856, 46899860-46899871, 46899876, 46900407-46900410, 46900632, 46900649, 46906775-46906896, 46907361-46907371, 46907385, 46907405, 46907414, 46908341-46908343, 46908349-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913129, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925338, 46925752-46925787, 46925796-46925861, 46925872-46925880, 46927475-46927507, 46929289, 46929318, 46929328-46929329, 46929357, 46929376, 46929415, 46930011-46930012, 46930016-46930020, 46930046-46930075, 46930078, 46930086, 46930120-46930152, 46930168-46930175, 46931025-46931061, 46931100, 46931103, 46931106-46931128, 46932149-46932151, 46932175-46932210, 46932290-46932312
586COL6A1210.577583414318111304308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406482, 47406488-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409042, 47409045, 47409523-47409528, 47409542, 47409557-47409566, 47409671-47409692, 47410172-47410198, 47410292-47410336, 47410687-47410690, 47410694, 47410699-47410704, 47410709-47410710, 47410717-47410740, 47410901-47410902, 47410931, 47411932, 47411940, 47411982, 47412662-47412668, 47412677, 47412685-47412697, 47414090-47414098, 47414101, 47414132-47414135, 47417394-47417397, 47417614-47417665, 47418065, 47418312, 47418833-47418873, 47419067-47419074, 47419111-47419131, 47419578-47419606, 47420261, 47420264-47420274, 47420676-47420681, 47421262-47421285, 47423452, 47423455, 47423470-47423516, 47423526-47423534, 47423634, 47423653-47423656, 47423797, 47423914-47423920
587COL6A2210.607189542483661202306047531391-47531467, 47531475-47531481, 47531485-47531489, 47531893-47531902, 47531923-47531928, 47531963, 47531976, 47531979-47531985, 47531994, 47531997-47532000, 47532119-47532163, 47532188-47532201, 47532210, 47532262, 47532285-47532286, 47532309, 47532316, 47532324-47532328, 47532331-47532332, 47532339-47532348, 47532473, 47532476-47532482, 47532719-47532721, 47532724, 47533931, 47533937, 47533957, 47533960-47533962, 47533966, 47533982-47533987, 47535800-47535830, 47535931-47535967, 47536291-47536301, 47536312-47536317, 47536568-47536591, 47536701-47536728, 47537314-47537361, 47537788-47537821, 47537831-47537850, 47538528-47538583, 47538944-47538946, 47538970-47538979, 47538984, 47539003, 47539006, 47539032-47539033, 47539707-47539764, 47540429-47540487, 47540975-47541031, 47541470-47541493, 47541505-47541532, 47542022-47542027, 47542410-47542423, 47542789-47542815, 47542826-47542851, 47544587-47544598, 47544622-47544627, 47544813-47544822, 47545221-47545225, 47545515-47545524, 47545699-47545712, 47545768-47545769, 47545776-47545777, 47545913, 47545919-47545930, 47545933, 47545972-47546012, 47546071, 47546124-47546146, 47546439-47546455, 47551873-47551887, 47551925-47551928, 47551970-47551983, 47551988, 47551991-47552020, 47552024, 47552055-47552077, 47552094-47552123, 47552163, 47552174-47552209, 47552276-47552279, 47552284, 47552298-47552300, 47552317, 47552363-47552402, 47552434-47552435, 47552459
588COL6A2210.748538011695918634247552183-47552209, 47552276-47552279, 47552284, 47552298-47552300, 47552317, 47552363-47552402, 47552434-47552435, 47552459, 47552518-47552524
589FTCD210.156826568265681371162647556901-47556913, 47556955-47556964, 47556971, 47556979, 47557154-47557164, 47557169, 47557172-47557173, 47557236-47557248, 47558422-47558435, 47558446-47558461, 47558473, 47558477-47558560, 47558816-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570418, 47570424-47570439, 47571472-47571515, 47571534-47571651, 47571810-47571832, 47571835, 47571840-47571841, 47571844-47571846, 47571851-47571882, 47571892-47571894, 47572821-47572834, 47572850-47572949, 47574063-47574079, 47574086-47574246, 47575384-47575424, 47575433-47575436
590PCNT210.99370692238538631001147744143, 47744172-47744194, 47817237, 47848346-47848369, 47863840-47863853
591PRODH220.89961175818081181180318904410-18904419, 18908929-18908936, 18918547-18918553, 18923528-18923557, 18923566, 18923573, 18923577, 18923581-18923620, 18923637-18923675, 18923732-18923758, 18923775-18923776, 18923779-18923791, 18923799-18923800
592GP1BB220.251207729468646562119711093-19711102, 19711377-19711418, 19711428-19711434, 19711459-19711496, 19711548-19711878, 19711897-19711929, 19711963-19711965, 19711986
593TBX1220.81182795698925280148819747179-19747180, 19747185, 19748428-19748599, 19748620, 19748623, 19748627, 19748634, 19748640-19748641, 19748672-19748673, 19753465, 19753501, 19753912-19753961, 19753975-19754005, 19754029-19754034, 19754037, 19754190-19754196
594SMARCB1220.993955094991367115824145525-24145526, 24145529, 24145532, 24145538-24145539, 24145546
595UPB1220.99913419913421115524906773
596HPS4220.9928977272727315211226859942, 26860036, 26860053, 26860063, 26860269, 26860285-26860294
597CHEK2220.9466212379329994176129083906-29083925, 29083948-29083965, 29085133-29085171, 29091840-29091841, 29126408-29126414, 29126450-29126457
598MYH9220.95495495495495265588336688080, 36688085-36688107, 36688225-36688226, 36689414-36689433, 36689461, 36690247-36690275, 36690296-36690322, 36691581-36691585, 36691634-36691640, 36694967, 36695073-36695075, 36696213, 36696976-36696998, 36697074-36697079, 36697580-36697587, 36697616-36697621, 36697662-36697698, 36700094-36700117, 36700121, 36700127-36700129, 36701119-36701124, 36701137-36701138, 36702008, 36702048-36702066, 36702604-36702612
599TRIOBP220.96055226824458280709838119798-38119804, 38119866-38119905, 38119935-38119962, 38119993-38120019, 38120029-38120052, 38120082-38120088, 38120150-38120199, 38120297-38120346, 38120426-38120432, 38120473, 38120740-38120741, 38121830, 38121834, 38121851, 38122062, 38122122, 38129332, 38129405-38129419, 38130921, 38131224-38131227, 38147782-38147790, 38150984, 38161776
600SOX10220.999286224125621140138379743
601PLA2G622048948938508274-38508312, 38508511-38508584, 38509494-38509869
602PLA2G6220.77488641057414545242138508168-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511560, 38511596-38511610, 38511629, 38511633, 38511657-38511688, 38512082-38512088, 38512098, 38512194-38512218, 38516846-38516853, 38519138-38519141, 38522385, 38522396, 38528885-38528918, 38528927
603ADSL220.83436426116838241145540750260, 40750280, 40750291, 40750329-40750331, 40754872, 40754927, 40754934-40754935, 40755022-40755039, 40755286-40755288, 40755292, 40755309, 40756406-40756446, 40756454-40756487, 40757277-40757283, 40757331-40757346, 40757492-40757515, 40757552-40757585, 40757638-40757639, 40759049-40759075, 40760916, 40760995-40761016
604EP300220.9870255348516294724541531822, 41533712, 41533738-41533785, 41536185, 41536191-41536199, 41536244-41536261, 41537111, 41537149-41537156, 41537162, 41537169, 41545110, 41573492-41573495
605TNFRSF13C220.6792792792792817855542322105-42322109, 42322201-42322244, 42322260-42322335, 42322664-42322715, 42322748
606CYB5R3220.979028697571741990643027452, 43045301-43045318
607ATXN10220.997899159663873142846239549-46239551
608TRMU220.992890995260669126646731697-46731704, 46731708
609ALG12220.77436946148603331146750301555-50301592, 50303568, 50303571, 50303578, 50303582, 50303617, 50303620-50303646, 50303677-50303728, 50304160-50304167, 50304172-50304178, 50304217, 50307073-50307110, 50307122, 50307125, 50307129-50307165, 50307252-50307292, 50307302, 50307305, 50307308, 50307342-50307413
610MLC1220.9382716049382770113450502463-50502474, 50508966-50508967, 50512671, 50512678, 50512682, 50512737-50512758, 50515270-50515273, 50515909, 50518360-50518366, 50518369-50518373, 50518789-50518795, 50523270-50523276
611SCO2220.970037453183522480150962657-50962671, 50962713, 50962716, 50962823, 50962827-50962832
612TYMP220.76535541752933340144950964215-50964223, 50964238, 50964253-50964347, 50964430-50964488, 50964499-50964501, 50964504, 50964509, 50964512-50964546, 50964549-50964550, 50964553, 50964563-50964570, 50964715-50964718, 50964725-50964727, 50964735-50964736, 50964755-50964788, 50964799-50964806, 50964871-50964897, 50964900-50964904, 50965042, 50965086-50965090, 50965136, 50965156-50965162, 50965709, 50967657-50967663, 50967739-50967758
613ARSA220.91404199475066131152451063629-51063635, 51063671-51063677, 51063752-51063761, 51063797-51063834, 51063845-51063880, 51064039-51064042, 51064083, 51064086, 51064107, 51064469-51064473, 51065182, 51065188, 51065991-51066009
614SHANK3220.771548436308161198524451113070-51113132, 51113476-51113562, 51113581-51113679, 51115056, 51115087-51115091, 51115110-51115121, 51117013-51117014, 51117030-51117062, 51117081-51117121, 51117197-51117221, 51117224, 51117233, 51117243-51117272, 51117278-51117348, 51117447, 51117455-51117464, 51117477-51117530, 51117549-51117580, 51117598-51117614, 51117740-51117749, 51117763-51117856, 51121768-51121845, 51123013-51123079, 51133208-51133213, 51133240-51133284, 51133299-51133321, 51133326-51133389, 51133450-51133452, 51133457, 51135675-51135680, 51135703-51135719, 51135951-51136143, 51144569-51144574
615SUMF130.99911111111111111254508874
616ITPR130.99889339727038981334852986, 4853058, 4853071, 4853079, 4854885-4854888, 4854900
617FANCD230.90579710144928416441610085533-10085539, 10091153, 10114600-10114608, 10114630-10114658, 10114944, 10114990-10114996, 10115035-10115046, 10116214-10116291, 10116315-10116331, 10116336-10116338, 10119813-10119860, 10122784-10122787, 10122834-10122863, 10122899-10122912, 10123030-10123044, 10123068-10123071, 10123098-10123135, 10130168-10130172, 10132066-10132067, 10133901-10133916, 10135973, 10136897-10136904, 10136958, 10138141-10138147, 10140447-10140474, 10140477, 10140498-10140527
618VHL30.894080996884746864210183575, 10183583-10183591, 10183609, 10183623-10183674, 10183703-10183705, 10183735-10183736
619PPARG30.996047430830046151812434132, 12434145-12434149
620RAF130.99948638931691194712647770
621CRTAP30.9684908789386438120633155759-33155765, 33155886, 33155956-33155985
622SCN5A30.9886228561725367588938616795-38616797, 38616800-38616815, 38639307-38639320, 38645264-38645289, 38645483, 38648277, 38651357-38651362
623TMIE30.812636165577348645946742904, 46742926-46742974, 46742987-46742992, 46743010-46743014, 46743023-46743029, 46743053-46743070
624TMIE30.91719745222933947146742987-46742992, 46743010-46743014, 46743023-46743029, 46743053-46743070, 46751074-46751076
625TREX130.57927927927928467111048507908, 48507966-48508005, 48508031-48508033, 48508039-48508046, 48508060-48508067, 48508086-48508107, 48508112-48508137, 48508142, 48508154-48508180, 48508199-48508216, 48508266-48508268, 48508277-48508329, 48508400-48508401, 48508406, 48508417-48508426, 48508432, 48508463-48508475, 48508479-48508480, 48508507-48508525, 48508582, 48508585, 48508635-48508670, 48508701-48508706, 48508714, 48508717, 48508721, 48508725, 48508759-48508776, 48508790-48508810, 48508831-48508869, 48508881-48508882, 48508893-48508942, 48508969-48508999
626COL7A130.742388228636112276883548601846, 48602219-48602234, 48602299-48602342, 48602389, 48602565-48602616, 48602619-48602621, 48602843-48602862, 48605286, 48605952-48605953, 48606808-48606824, 48607043, 48607046-48607063, 48607072-48607081, 48607174-48607190, 48607322, 48607337-48607348, 48607589, 48607604, 48607766-48607767, 48608078, 48608084-48608089, 48608099-48608136, 48608298, 48608306, 48608549, 48608552-48608553, 48608566-48608569, 48608676-48608679, 48609813-48609834, 48609964-48609971, 48610364, 48610369-48610374, 48610473-48610475, 48610631-48610657, 48610754, 48610758, 48610765-48610773, 48610987-48610988, 48611123-48611140, 48611318-48611323, 48611932, 48611974-48611981, 48612112, 48612134, 48612149-48612154, 48612245, 48612660, 48612667, 48612816-48612817, 48612902-48612951, 48612971, 48613068, 48613084-48613115, 48613118, 48613142, 48613152, 48613157-48613171, 48613300-48613319, 48613707-48613729, 48613833-48613868, 48613970-48613973, 48614124-48614150, 48614165-48614200, 48614341-48614352, 48615761, 48615886-48615940, 48616352, 48616379-48616387, 48616662-48616682, 48616690-48616710, 48616831-48616837, 48616913-48616931, 48616937-48616948, 48617021-48617038, 48617041, 48617088-48617101, 48617476-48617490, 48617767, 48618014-48618017, 48618027, 48618058, 48618315-48618316, 48618319, 48618324, 48618555-48618557, 48618589-48618590, 48618695-48618730, 48618767, 48618881-48618900, 48618909-48618916, 48619006-48619018, 48619037-48619043, 48619057, 48619060, 48619153, 48619157-48619158, 48619163, 48619169-48619170, 48619181-48619184, 48619362-48619376, 48619756-48619784, 48619918-48619946, 48620045-48620083, 48620446-48620465, 48620835, 48621025-48621048, 48621151-48621171, 48621347-48621348, 48621376-48621386, 48621773-48621781, 48622542-48622544, 48622990-48623026, 48623166-48623167, 48623263-48623289, 48623550-48623551, 48623568-48623570, 48623578-48623580, 48623593-48623655, 48623781, 48623792, 48623807-48623833, 48623846-48623850, 48623856, 48623859, 48623884, 48623889-48623901, 48623906, 48624009-48624058, 48624090-48624122, 48624443-48624527, 48624629-48624666, 48624672-48624714, 48624750, 48624757, 48624870, 48624892, 48624899-48624917, 48624922, 48624930, 48624934-48624943, 48624946-48624948, 48624954, 48624986-48624987, 48625240-48625320, 48625331-48625343, 48625725-48625737, 48625742, 48625765-48625767, 48625771-48625777, 48625780-48625781, 48625794-48625799, 48625820-48625822, 48625825-48625837, 48626075-48626086, 48626092-48626136, 48626141-48626143, 48626159-48626194, 48626343-48626351, 48626422-48626424, 48626760-48626787, 48626822-48626863, 48626871-48626903, 48627033-48627072, 48627091-48627151, 48627657, 48627662, 48627694-48627695, 48627699-48627709, 48627727-48627750, 48627764-48627786, 48627892-48627910, 48628010, 48628106-48628107, 48628112-48628114, 48628118, 48628140-48628160, 48628201-48628226, 48628944, 48628948, 48629131-48629158, 48629669-48629673
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628AMT30.995874587458755121249459570, 49459592, 49459597, 49459602-49459603
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630TNNC130.954732510288072248652485296, 52485305, 52486123-52486126, 52488016-52488031
631RFT130.9895448954489517162653153921-53153935, 53153939-53153940
632HESX130.98745519713262755857232225-57232230, 57233836
633FLNB30.98655397618133105780957994520-57994564, 58080601-58080613, 58081899, 58081903-58081911, 58081914, 58081918, 58083557-58083559, 58083652, 58084446, 58084510-58084531, 58084535, 58084613, 58084616, 58134060-58134061, 58135948, 58139254, 58141713
634PDHB30.998148148148152108058416538, 58416547
635ATXN730.91331923890063246283863898287-63898330, 63898340, 63898357-63898542, 63898577-63898591
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639GBE130.9710763394973961210981539577, 81539583, 81548267-81548272, 81548311-81548363
640ARL13B30.9829059829059822128793754202, 93761964-93761965, 93762013, 93762028-93762039, 93768250-93768253, 93768258, 93768261
641CPOX30.99780219780223136598304467, 98312150, 98312153
642HGD30.9992526158445411338120347229
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644CASR30.9993821439604623237122003673-122003674
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646CNBP30.70037453183521160534128889329, 128889922-128889926, 128889946-128889948, 128889976-128890017, 128890055-128890101, 128890289-128890331, 128890350-128890353, 128890485, 128890533-128890539, 128890547, 128890555, 128890558-128890559, 128890598-128890600
647ATP2C130.98035087719298562850130672738, 130672806-130672807, 130672817, 130674988, 130678126, 130678134-130678135, 130678166-130678177, 130683796, 130683850-130683878, 130686012-130686016, 130699498
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649PLOD230.9969257795344872277145788532-145788537, 145794598
650HPS330.945605306799341643015148847655, 148857934, 148858033, 148858062-148858063, 148858067-148858068, 148858071, 148858226-148858227, 148858804-148858840, 148858849-148858904, 148858928-148858942, 148858974, 148859105-148859146, 148863211, 148863267, 148872987
651GFM130.9977836879432652256158362441, 158383141, 158384166, 158399812, 158399897
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653BCHE30.9657269209508621809165491210, 165491246-165491283, 165548315, 165548490, 165548493, 165548496-165548501, 165548529, 165548697, 165548702, 165548706, 165548726, 165548813-165548821
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655PLD130.9996899224806213225171406642
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661TP6330.97258932941752562043189455559-189455574, 189455610-189455615, 189456485-189456492, 189585641-189585666
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664RPL35A30.9969969969971333197680876
665PDE6B40.9812865497076482565619501-619514, 619543-619545, 619551, 619591-619593, 619600, 619835-619840, 648627-648630, 648635, 648643, 651159, 651168, 651178, 651227-651234, 651246-651247, 651278
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668SH3BP240.904146472805617818572819954-2819975, 2820017-2820050, 2820059-2820077, 2829339, 2831229, 2831237, 2831373-2831379, 2831383-2831392, 2831579, 2831647-2831649, 2831815, 2831826-2831828, 2831831-2831834, 2833382-2833394, 2834093, 2834096, 2834104-2834107, 2834132-2834138, 2835469-2835503, 2835525, 2835540-2835548
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676CNGA140.9785087719298249228047954627-47954631, 47954676-47954677, 47972931-47972965, 47973008-47973013, 47973067
677PDGFRA40.9889908256880736327055152098-55152117, 55153692, 55153699-55153701, 55155041, 55156560-55156570
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681COQ240.99913419913421115584193309
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924NOTCH190.5966353677621330937668139390526-139390598, 139390614-139390659, 139390677-139390683, 139390773-139390774, 139390783-139390788, 139390793-139390805, 139390841-139390943, 139390968-139391016, 139391028-139391061, 139391128-139391129, 139391177-139391189, 139391195, 139391198, 139391203-139391215, 139391247, 139391278-139391334, 139391360, 139391389-139391395, 139391422-139391442, 139391450-139391490, 139391498-139391540, 139391578-139391579, 139391588-139391590, 139391613, 139391679-139391682, 139391737-139391779, 139391799, 139391823-139391874, 139391940-139391950, 139391980-139391992, 139391996-139391997, 139393583-139393591, 139395022-139395036, 139395093-139395094, 139395103, 139395123-139395153, 139395178-139395224, 139395248-139395273, 139396200, 139396228, 139396298-139396327, 139396453-139396477, 139396484, 139396488, 139396521-139396527, 139396724-139396727, 139396832, 139396852-139396912, 139396936-139396940, 139397707, 139397713, 139397721, 139399129, 139399132, 139399143-139399144, 139399153-139399156, 139399160-139399164, 139399191-139399226, 139399262, 139399313, 139399397-139399426, 139399477, 139399493-139399497, 139399508, 139399514-139399519, 139399522-139399546, 139399847-139399877, 139399911-139399924, 139399963, 139399968-139399983, 139399985-139399991, 139400011-139400013, 139400019-139400025, 139400094, 139400140-139400146, 139400183, 139400186, 139400189, 139400205-139400225, 139400237, 139400246-139400291, 139400321-139400333, 139401003, 139401008-139401009, 139401037, 139401048, 139401080-139401091, 139401187, 139401215, 139401224, 139401285-139401291, 139401398, 139401837, 139401841-139401843, 139402417, 139402472, 139402546-139402552, 139402590, 139402729, 139402733, 139402760, 139402827, 139403337, 139403393-139403403, 139403432-139403466, 139403475, 139403495-139403504, 139405122, 139405159-139405162, 139405168, 139405174, 139405196-139405226, 139405257, 139405661-139405663, 139405707-139405723, 139407473-139407586, 139407890, 139407893-139407895, 139407900-139407915, 139407922-139407933, 139407943, 139408962-139408979, 139409049-139409068, 139409142, 139409147-139409151, 139409742-139409852, 139409935-139409965, 139409981-139409992, 139410003-139410009, 139410019-139410042, 139410087-139410132, 139410141-139410168, 139410445, 139410461-139410466, 139410499-139410546, 139411727-139411837, 139412204-139412206, 139412222-139412236, 139412243-139412248, 139412254, 139412264-139412313, 139412334-139412347, 139412352, 139412370, 139412373-139412389, 139412595-139412602, 139412622-139412654, 139412694-139412728, 139412734-139412744, 139413043-139413080, 139413086-139413106, 139413129-139413131, 139413136-139413178, 139413204-139413207, 139413218-139413219, 139413226, 139413234-139413238, 139413261-139413272, 139413895-139413976, 139413988-139414009, 139417302-139417640, 139418169-139418431, 139440182-139440238
925AGPAT290.53643966547192388837139568204, 139568214-139568231, 139568258-139568277, 139568287-139568323, 139568336, 139568351-139568379, 139569223-139569241, 139571109, 139571116, 139571125-139571127, 139571450, 139571456-139571474, 139571519-139571564, 139571574, 139571898-139571902, 139571904-139571923, 139571965-139571983, 139571995, 139571998, 139581640-139581666, 139581671-139581681, 139581703-139581809
926SLC34A390.943333333333331021800140128327-140128358, 140128576-140128605, 140128614-140128642, 140128681-140128683, 140128888, 140130446-140130447, 140130509-140130510, 140130518, 140130543, 140130606
927EHMT190.846548627149095983897140513481-140513501, 140605419-140605430, 140605440-140605445, 140605448-140605449, 140611078-140611634
928SHOXX0.58589306029579364879591633-591716, 591734-591883, 591891-591895, 595353-595371, 595391-595405, 595416, 595419, 595426-595442, 595454-595484, 595521-595561
929CSF2RAX0.5877394636015353813051401628-1401667, 1404671-1404694, 1404731, 1404735, 1404740, 1404745-1404748, 1404774-1404813, 1407685-1407701, 1409267-1409276, 1409281-1409293, 1413221-1413300, 1413312-1413323, 1413330-1413354, 1414320-1414323, 1414335-1414349, 1419384-1419387, 1419399-1419417, 1419446-1419464, 1419469-1419470, 1419508-1419519, 1422154-1422252, 1422816-1422841, 1422866-1422869, 1422872-1422909, 1424394-1424411, 1424420, 1428297-1428305
930ARSEX0.99943502824859117702852951
931GPR143X0.99921568627451112759728767
932TRAPPC2X0.4657210401891322642313732547-13732555, 13732588, 13732598-13732624, 13734125, 13734133-13734144, 13734154-13734183, 13734204, 13734207-13734209, 13734666-13734674, 13734688-13734797, 13737990-13737991, 13738008-13738028
933OFD1X0.86475814412636411303913753201, 13754608-13754627, 13754640, 13754654-13754656, 13754681-13754683, 13754689-13754694, 13754697, 13754743, 13754762-13754797, 13756990-13757011, 13757135, 13764527, 13764533, 13764990-13765001, 13769430, 13771511-13771512, 13771526, 13773298, 13774752, 13774755, 13775815-13775818, 13775821, 13775832, 13775855-13775909, 13776456-13776457, 13776490-13776501, 13776518-13776523, 13776526, 13776537, 13776547-13776556, 13778243, 13778264, 13778267, 13778277, 13778287-13778288, 13778394-13778406, 13778606-13778608, 13778661-13778663, 13778685, 13778690, 13778703, 13778742-13778748, 13778789, 13778799, 13779226, 13779247-13779296, 13779311, 13780463-13780530, 13781881, 13781886, 13781929-13781949, 13781956-13781974, 13785347, 13786300, 13786883
934FANCBX0.94806201550388134258014863112-14863113, 14863117-14863119, 14863192, 14863242-14863243, 14871161-14871170, 14871178-14871180, 14871183-14871189, 14871192-14871193, 14871278-14871289, 14876000, 14876029-14876030, 14876035, 14877304-14877342, 14877404-14877424, 14877427-14877428, 14882933, 14883027, 14883164, 14883213-14883215, 14883467, 14883477, 14883539-14883552, 14883615-14883618
935CDKL5X0.9912706110572327309318593492-18593497, 18593550-18593551, 18593556-18593559, 18593563-18593564, 18593570-18593571, 18593591, 18593604-18593610, 18600066, 18602463-18602464
936RS1X0.99703703703704267518660140-18660141
937PHKA2X0.997842502696878370818912397, 18912446, 18912492-18912496, 18912514
938SMSX0.9709355131698532110121958943-21958974
939PHEXX0.94311111111111128225022112185-22112189, 22231029-22231035, 22263450-22263461, 22263471-22263484, 22263513-22263517, 22265968-22265980, 22265999-22266070
940ARXX0.9763173475429240168925031468, 25031575, 25031646-25031678, 25031769-25031770, 25031777-25031779
941IL1RAPL1X0.9736967957914955209129301218-29301221, 29301314, 29301319, 29301328, 29301332-29301333, 29417298-29417299, 29417321-29417323, 29417341-29417344, 29417349-29417350, 29417358-29417362, 29417396-29417425
942NR0B1X0.999292285916491141330326639
943GKX0.9735258724428444166230671657-30671658, 30671698, 30736705-30736733, 30738196-30738200, 30745618, 30745626-30745629, 30745632, 30745636
944DMDX0.948363175981195711105831224706-31224712, 31525402-31525458, 31986456-31986498, 31986516, 31986592-31986602, 31986627, 31986631, 32360397-32360399, 32361289-32361304, 32361340-32361349, 32364066, 32364102, 32364126, 32366523-32366540, 32366552, 32366628-32366645, 32380921, 32380925-32380928, 32380996, 32382724, 32382729-32382751, 32382806-32382821, 32383153-32383164, 32383175, 32383198, 32383261-32383262, 32383282, 32383300-32383316, 32398627-32398635, 32398649, 32398677-32398681, 32398689-32398703, 32398793, 32404429-32404435, 32407702-32407708, 32407786, 32490330, 32490362, 32490368-32490370, 32490421, 32490425-32490426, 32503155, 32503159-32503179, 32503194, 32503206-32503216, 32509394-32509475, 32509498-32509526, 32509540-32509583, 32509622-32509635, 32519872-32519891, 32519901, 32519905, 32563297, 32583915, 32827641-32827644, 33229399-33229414
945CYBBX0.99941622883831171337658270
946RPGRX0.555651922520961537345938144825, 38144976-38144990, 38145013-38145039, 38145061-38145089, 38145099-38146162, 38146169-38146170, 38146173-38146229, 38146257-38146258, 38146269-38146272, 38146301-38146360, 38146372-38146498, 38147164-38147294, 38150212-38150221, 38150249, 38150277, 38150650, 38150662-38150664, 38156574, 38182659
947OTCX0.9530516431924950106538226639, 38226645, 38229049, 38240595-38240603, 38240631, 38240641-38240642, 38240648, 38260603, 38262885-38262889, 38271216, 38271219, 38271222, 38280276-38280282, 38280292-38280309
948TSPAN7X0.9642775038533475-38533483, 38534972, 38534975, 38534978-38534982, 38534987, 38535027, 38535032, 38535038-38535039, 38535044-38535048, 38535074
949BCORX0.999810174639331526839913532
950NYXX0.7088520055325421144641332848, 41332864-41332867, 41332877, 41332893-41332909, 41332918-41332924, 41332978-41332982, 41333132-41333165, 41333236-41333241, 41333257, 41333261-41333266, 41333272-41333284, 41333337-41333478, 41333500-41333525, 41333534-41333555, 41333643-41333674, 41333679, 41333682, 41333717-41333722, 41333736-41333765, 41333900, 41333908-41333912, 41333939-41333998
951CASKX0.9927693420101220276641394022-41394029, 41419091-41419100, 41420814, 41646493
952MAOAX0.9924242424242412158443571956-43571960, 43571984-43571990
953ZNF674X0.999427262313861174646359806
954RP2X0.83760683760684171105346712935-46712936, 46712979-46713001, 46713005-46713008, 46713057-46713060, 46713071, 46713128, 46713185-46713224, 46713304-46713313, 46713365-46713410, 46713436-46713474, 46719521
955ZNF41X0.564957264957261018234047306829-47306830, 47306968-47307009, 47307020-47307058, 47307074-47307098, 47307103, 47307135, 47307174-47307204, 47307373, 47307394-47307408, 47307429-47307473, 47307532-47307559, 47307584-47307609, 47307666-47307670, 47307752-47307796, 47307813-47307833, 47307839-47307867, 47307904-47307930, 47307953-47307995, 47308041-47308090, 47308114-47308116, 47308143-47308178, 47308188-47308212, 47308216-47308227, 47308234-47308255, 47308264-47308292, 47308319-47308355, 47308361-47308401, 47308463-47308471, 47308495-47308527, 47308547-47308659, 47308697-47308711, 47308718, 47308728, 47308740-47308746, 47308755-47308828, 47315353-47315368, 47315373-47315376, 47315388-47315390, 47315393-47315402, 47315405, 47315414-47315415, 47315679-47315706, 47315755-47315761, 47315765-47315776, 47315781
956SYN1X0.94759206798867111211847433751, 47464387, 47464431, 47464434-47464436, 47464455, 47464717-47464719, 47464727, 47464770-47464774, 47466344-47466387, 47466399, 47466408, 47466422-47466432, 47466435, 47466541-47466562, 47466583-47466597
957ZNF81X0.9702920443101759198647747406-47747427, 47747460-47747494, 47775249-47775250
958EBPX0.99422799422799469348386644-48386647
959CACNA1FX0.9900572969329359593449076191-49076249
960CLCN5X0.94859241126071126245149806925-49806963, 49806971-49807013, 49807024-49807067
961SMC1AX0.9948676391139919370253410036, 53423456, 53423526, 53430749, 53432562, 53432703-53432705, 53432721, 53432778-53432781, 53432784-53432786, 53432789-53432791
962FGD1X0.9909909909909926288654476161, 54482775, 54482779, 54497056, 54521733-54521746, 54521838-54521845
963ARX0.9923995656894721276366765159-66765169, 66863186-66863187, 66863242-66863248, 66941758
964IGBP1X0.995098039215695102069366586-69366589, 69370172
965DLG3X0.999592502037491245469665400
966MED12X0.9918885827976753653470361133-70361185
967TAF1X0.9688489968321177568270586180-70586238, 70586319-70586333, 70601636, 70602472-70602476, 70603901-70603916, 70617108-70617123, 70641167-70641168, 70641198-70641222, 70643850-70643883, 70643898-70643900, 70644062
968PHKA1X0.9934640522875824367271904349, 71915633-71915652, 71915682-71915684
969SLC16A2X0.9913137893593916184273641259-73641266, 73641566-73641572, 73744362
970ATRXX0.9895707982350678747976938922, 76939687-76939689, 76939725-76939727, 76939884-76939924, 76940038, 76940431-76940438, 76953103-76953123
971ATP7AX0.85654008438819646450377227165, 77243786-77243787, 77243798, 77243847-77243888, 77243899-77243907, 77244009, 77244026, 77244029, 77244067-77244074, 77244131-77244140, 77244221, 77244864-77244891, 77244918, 77244932-77244992, 77245011-77245034, 77245058, 77245067, 77245080, 77245170-77245217, 77245290-77245327, 77245387-77245395, 77245400, 77254099-77254123, 77258570-77258611, 77258630-77258670, 77258685-77258720, 77258730, 77264620-77264656, 77264711, 77266703-77266704, 77266972-77266974, 77267016-77267037, 77267072, 77267099-77267141, 77268410-77268411, 77268547-77268548, 77270229-77270250, 77271290-77271291, 77271329-77271343, 77275741-77275747, 77275809, 77276455-77276477, 77276488, 77276497, 77276499-77276520, 77276543, 77276557-77276559
972PGK1X0.999202551834131125477378798
973TBX22X0.999360204734481156379277892
974BRWD3X0.9942688112405331540980064940-80064970
975ZNF711X0.75546806649169559228684519316-84519319, 84525009-84525020, 84525064-84525065, 84525091, 84525658-84525664, 84525709-84525731, 84525754, 84525775-84525777, 84525788, 84525793-84525821, 84525890-84525925, 84525942-84525987, 84526023, 84526068-84526108, 84526130-84526203, 84526298-84526316, 84526321-84526323, 84526326-84526327, 84526366-84526430, 84526437-84526499, 84526538, 84526543-84526546, 84526552-84526555, 84526560, 84526566, 84526580-84526598, 84526607-84526631, 84526636-84526638, 84526674-84526679, 84526697, 84526750-84526762, 84526771-84526809, 84526826-84526834
976CHMX0.94444444444444109196285119685-85119691, 85119761-85119770, 85119793-85119809, 85128081-85128088, 85128099-85128148, 85128156-85128170, 85133972, 85134002
977SRPX2X0.998569384835482139899901370-99901371
978BTKX0.98686868686869261980100608955, 100609663, 100613379-100613393, 100614325-100614329, 100615679, 100617605-100617607
979GLAX0.998449612403121290100652805, 100653010
980PLP1X0.998800959232611834103042882
981PRPS1X0.9895506792058510957106871877-106871880, 106871912, 106882530-106882534
982COL4A5X0.98695136417556665058107782976-107782997, 107783018, 107802294, 107812030-107812038, 107816828-107816834, 107816881, 107819144, 107840228-107840230, 107840665, 107840720, 107840726, 107845201-107845205, 107858220, 107865113-107865120, 107865970, 107867476-107867477, 107867525
983ACSL4X0.98408239700375342136108906524, 108906542-108906546, 108906552, 108921217-108921242, 108924326
984AGTR2X0.98809523809524131092115303696-115303701, 115303717-115303718, 115303730-115303732, 115304498, 115304569
985UPF3BX0.98415977961433231452118968900, 118968910-118968913, 118972458-118972459, 118975135, 118975142-118975148, 118975193-118975199, 118979213
986NDUFA1X0.8450704225352133213119007295-119007296, 119007302, 119007305-119007312, 119007315, 119010477-119010497
987CUL4BX0.944201312910281532742119672014-119672015, 119672019, 119674375, 119674379, 119677978, 119678367, 119678370-119678371, 119678382, 119679332-119679338, 119680409-119680410, 119680421, 119680434, 119681022, 119681034, 119681052, 119681059, 119691801, 119691848, 119691878-119691894, 119694035-119694036, 119694072-119694075, 119694079-119694081, 119694094, 119694274, 119694287-119694328, 119694355-119694374, 119694439-119694474
988XIAPX0.98795180722892181494123019679-123019682, 123019688, 123019741-123019750, 123025133-123025134, 123025163
989OCRLX0.9996304508499612706128674436
990FRMD7X0.997202797202862145131211976-131211978, 131220057, 131261846, 131261866
991GPC3X0.99254159495123131743132887510-132887512, 132887539, 132887612, 132888016-132888023
992PHF6X0.9972677595628431098133527544, 133527588, 133527619
993SLC9A6X0.96866096866097662106135067696, 135067703, 135080323, 135081015-135081040, 135081081-135081113, 135092629, 135092632, 135095556, 135095572
994FHL1X0.998971193415641972135292030
995F9X0.9949494949494971386138630522-138630528
996SOX3X0.98806860551827161341139586141-139586154, 139586501-139586502
997FMR1X0.99052132701422181899147022102-147022119
998AFF2X0.998475609756163936148062270-148062272, 148062311, 148062314, 148062319
999IDSX0.9957652752571171653148564604-148564610
1000MTM1X0.99448123620309101812149814303, 149818273, 149818310-149818317
1001FAM58AX0.9836734693877612735152864477-152864480, 152864483-152864486, 152864516-152864519
1002SLC6A8X0.648322851153046711908152954030-152954291, 152956759-152956772, 152956876, 152956880, 152956904-152956933, 152956958-152956987, 152957448-152957482, 152957554, 152958496-152958502, 152958520-152958555, 152958723-152958724, 152958917-152958939, 152959470-152959472, 152959585-152959586, 152959621, 152959632-152959635, 152959648, 152959690, 152959701-152959703, 152959799-152959813, 152959823-152959851, 152959897-152959901, 152959995-152960032, 152960075-152960088, 152960213-152960231, 152960243-152960276, 152960285, 152960547-152960553, 152960588-152960630, 152960661-152960669
1003ABCD1X0.99195710455764182238152990834, 152990982-152990995, 153002675, 153008984, 153008994
1004L1CAMX0.9989401165871843774153129004, 153135859, 153135889, 153136512
1005MECP2X0.95056780227121741497153296205-153296218, 153363063-153363122
1006OPN1LWX0.95707762557078471095153418511-153418545, 153420074-153420080, 153420159, 153420167-153420169, 153420176
1007OPN1MWX0.91780821917808901095153453279-153453285, 153455583-153455602, 153455641-153455668, 153457204-153457210, 153458979-153459006
1008OPN1MWX0.92694063926941801095153490400, 153492701-153492719, 153492759-153492786, 153494297-153494328
1009FLNAX0.9991188318227677944153581726, 153588102, 153588387, 153588398, 153599528, 153599534, 153599596
1010EMDX0.9751633986928119765153608064-153608082
1011TAZX0.997465145754122789153640283, 153640478
1012G6PDX0.99328449328449111638153760252, 153760295-153760304
1013DKC1X0.9993527508090611545154001469
1014F8X0.98696145124717927056154090000-154090007, 154091358-154091371, 154091403-154091447, 154091466-154091490
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5SLC3A1-M467Thomozygous0.002Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.977 (probably damaging), Testable gene in GeneTests
5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
5WNT10A-F228Ihomozygous0.019Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
4DPYD-D949Vhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
4DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
4DPYD-M166Vhomozygous0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3COL4A1-V7Lhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3PRNP-M129Vhomozygous0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
3APOE-C130Rhet unknown0.135Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
2TGIF1-P83Shifthomozygous0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
2TGIF1-P292Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
2ARMS2-A69Shomozygous0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2EDNRB-S305Nhet unknown0.010Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
2USH2A-G4692Rhet unknown0.005Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview
2USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2USH2A-E2238Ahomozygous0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
2USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
2USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2CFH-V62Ihomozygous0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ABCG8-D19Hhet unknown0.058Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
2ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihomozygous0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5AKAP10-I646Vhomozygous0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5KRT5-G138Ehet unknown0.052Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AURKA-F31Ihomozygous0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADRB2-G16Rhomozygous0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1BRCA2-N289Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-DTD362EYFhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-E953Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1BRCA2-TAASR1325PAASShet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
1NHLRC1-P111Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ABCG5-R50Chet unknown0.068Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FERMT1-R526Khomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FERMT1-V241Ahet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1MUS81-R350Whomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.919 (probably damaging)
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1WNK1-T665Ihomozygous0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CD3G-V131Fhomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
1ATP6AP1L-Y89Hhomozygous0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
1HEATR7B2-L1179Phomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HEATR7B2-N918Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HEATR7B2-D648Vhomozygous0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1HEATR7B2-R526Hhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.947 (probably damaging)
1HEATR7B2-V496Ihet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HEATR7B2-W191Rhet unknown0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HEATR7B2-M11Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
1DSG2-E713Khomozygous0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
1DSG2-R773Khomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SCARF2-A832Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-A814Ghet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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-T425Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TTR-G26Shomozygous0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C20orf54-T278MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C20orf54-P267LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-I317Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PKD2-R28Phomozygous0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CPN2-Q509WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1XDH-R607QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TBX22-E187Khet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IFIT2-R109*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ATG9B-S794Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ATG9B-A790Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HCCS-A72Vhet unknownDominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AGL-G1115Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GFI1-S36Nhomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ECHDC3-A69Thomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ECHDC3-A151Thomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ECHDC3-D162Nhomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1ECHDC3-P246Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
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
1HRNR-C1414Yhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-G427Dhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhomozygous0.481Unknown
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
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HPS1-V4Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.827 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-A859Vhomozygous0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shomozygous0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.75ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75OCA2-H615Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625MYO7A-H133Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFS2-P20Thet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5NDUFS2-P352Ahet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPOX-R304Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-E453Qhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NCF2-K181Rhomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5GH1-DT173YKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GH1-K171Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HMCN1-A294Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-T1056Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-M2327Ihet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-H4084Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-A4720Thet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-D5087Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5OR1E1-A143Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1658Hhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TAF1C-R722Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-P699Lhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC50-E432Dhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-D435Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOB1-Y366Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging)
0.5NOB1-R231Qhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5RRP15-K149Nhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5ZNF19-R224Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF19-Q218Hhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASPM-Q2620Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2557Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLX4-N44Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCC3-R1297Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CLTC-R1498Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNJ12-S15Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.5KCNJ12-V36Lhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-R43Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.5KCNJ12-E56Ahet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5KCNJ12-M71Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-I100Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-E139Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5KCNJ12-G145Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KCNJ12-P156Lhet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-R261Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.837 (possibly damaging)
0.5KCNJ12-I262Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-S343Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.041 (benign)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5KCNJ12-E430Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5PRG4-R180Whomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRG4-K205Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRG4-T604Ahomozygous0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT33B-E85Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5MAN2B1-R337Qhet unknown0.373Unknown
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
0.5NDUFS7-P23Lhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CLCNKB-R27Lhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-I419Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR35-R1018Chet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-T653Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5TARDBP-V255Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TARDBP-M311Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TARDBP-F313Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MERTK-S118Nhomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBI-M71Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.297 (possibly damaging)
0.5GLI2-A1156Shet unknown0.626Unknown
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
0.5CLSTN1-G176Ehet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5VWA3B-E372*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWA3B-L677Vhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-D1223Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5VWA3B-R1245Khomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MPHOSPH10-L425Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTF2-K167Ehet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5TTF2-R838Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OVGP1-E676Qhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF562-N301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF562-G141Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF77-Q100*het unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF317-Q19Hhomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF317-Q19Hhomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5RYR1-G2060Chet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.345 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHDH-V247Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-G282Rhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CTH-S403Ihomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DMPK-L423Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POLR3E-S46Ahet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.221 (possibly damaging)
0.5POLR3E-T275Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RBL2-Y210Chet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5RBL2-E575Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UNC5B-I242Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5KRT74-E271Dhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5KRT74-L178Qhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT74-N165Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MLL2-S4010Phet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-R83Qhet unknown0.023Unknown
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-I723Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSG1-F39Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5SLCO1B3-AES11PEMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCDH15-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
0.5MPHOSPH8-T401Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MPHOSPH8-D460Yhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5SKA3-D335Ehet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SKA3-A28Vhet 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
0.5KNTC1-K245Nhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT78-T306Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5KRT78-L92Phet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.5KRT78-G46Rhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.679 (possibly damaging)
0.5ANKRD52-S1061Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GNPTAB-T644Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S23Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5A2ML1-D850Ehomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-R1122Whomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-A1226Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A2ML1-H1229Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-M1257Vhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF18A-L391Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIF18A-F76Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-G921Shet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS5-L417Mhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CALHM1-L86Phomozygous0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5POLA2-G583Rhomozygous0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DCP1B-N195Dhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging)
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RGR-S245Fhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC87-L738Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE27-V82Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE27-G138Vhet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMP8-Q450*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNFSF11-P36Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.976 (probably damaging), Testable gene in GeneTests
0.5CYP19A1-T201Mhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-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
0.5SERPINA13-R301Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5SERPINA13-Q322Hhet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhomozygous0.356Unknown
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
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOD2-V955Ihet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5NOD2-L1007Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1A1-T461Nhet unknown0.036Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5ETFA-T171Ihet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5OR2C1-G16Shet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VASN-R161Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.862 (probably damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-R125Hhomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TOX4-Q449*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TOX4-P455Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TOX4-Q457Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
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
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTCHD3-*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
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKR1C3-H5Qhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKR1C3-P180Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CHGA-G382Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5TSHR-E93Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-E4913Khet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.251 (possibly damaging), Testable gene in GeneTests
0.5MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNC3-E343Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNC3-D63Ghomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IQCF1-R114Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POMZP3-L8Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5TLR6-V427Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MANBA-V253Ihomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR3-L412Fhomozygous0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5DNAH5-I4450Vhomozygous0.528Unknown
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-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-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
0.5MCPH1-P828Shomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLHL38-K508Ehet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.784 (possibly damaging)
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-G394Rhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.292 (possibly damaging)
0.5KLHL38-R346Khet unknown0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhet unknown0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RDH10-C108Ghet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ABHD10-I251Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RETNLB-P20Lhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FLNB-D1157Nhomozygous0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLNB-V1471Mhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-R66Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GGH-A31Thomozygous0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HTT-T1720Nhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-E2643Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BST1-R145Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5IDUA-A361Thomozygous0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN2-E718Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN2-R688Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2B5-I587Vhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LPL-S474*het unknown0.084Unknown
protective
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SIM1-A371Vhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIM1-P352Thet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
0.5GPX5-L85Phet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G217Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BVES-M127Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SYNE1-G8323Ahomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A8168Shomozygous0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5LYRM2-Y44Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-C2422Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRIM2-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-Q265Lhet unknown0.119Unknown
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-S464Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LMBRD1-D469Ehomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-C172Yhomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MDC1-R1883Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T400Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A568Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LNPEP-V359Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-S2580Lhomozygous0.078Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-P326Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-A68Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A665Phet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5THSD7A-R841Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5THSD7A-N583Dhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SH3TC2-V1158Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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)
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I816Lhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehomozygous0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-R525Qhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5DFNB31-V783Ahomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFRS15-P295Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SFRS15-A284Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CXCR1-R335Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CXCR1-M31Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GAB4-W206Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GAB4-G163*homozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF673-E64Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF673-Q88Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF673-L103Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF673-P104Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF673-K151Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF673-A152Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF673-W164*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FKTN-R203Qhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5PTGS1-W8Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGS1-L237Mhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PSCA-W118*het unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MYLK2-P144Ahet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A2960Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2654Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5AGXT-P11Lhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNRH2-A16Vhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5GNRH2-S116Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PNPLA7-V828Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNPLA7-S8Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-M25Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KCNQ2-N780Thomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5SETX-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
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-Q448Ehet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-A1033Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.712 (possibly damaging), Testable gene in GeneTests
0.5SNX21-A154Thomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5SNX21-H179Phet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-P155Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A2-S399Nhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CSF2RB-P603Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC25A5-R138Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC25A5-G158Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC25A5-R263Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC25A5-F271Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC25A5-E293*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SLC25A5-K296Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC25A5-T298Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-R3791Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5BAIAP2L2-P407Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5TTN-QV30993HLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A30989Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-EP18594DShet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-RTY14524SPNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-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
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCD2-P714Lhomozygous0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1644-S197Lhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIAA1644-R148Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OPN1LW-T65Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-I111Vhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S116Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD72-V50Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.289 (possibly damaging)
0.5TTLL3-M502Rhomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTLL3-R561*het unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GGT1-R257Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GGT1-V272Ahet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-H1300Rhet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5TEX10-P922Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEX10-Q920Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TEX10-H918Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SSX1-F101Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
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-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM83H-G902Ehet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5FAM83H-D405Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM83H-Q201Hhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEC-G3458Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A3171Vhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-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
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-A1970Phet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.375MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MUT-W425Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.375FREM2-F2253Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.375MKKS-G532Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.375MKKS-R517Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375MKKS-A242Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375UMPS-ETK99VTRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ATXN3-G306QQQQQQQQQQQQQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQQQQQQQQQQQQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNKS1BP1-P1448Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TNKS1BP1-T322Shomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q571Rhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-K532Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AHNAK-I5483Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.729 (possibly damaging)
0.25AHNAK-S3724Phet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHNAK-D1785Ghet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AHNAK-K1763Rhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHNAK-K1481Rhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AHNAK-I813Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AHNAK-N812Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KAL1-V534Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25OR8U8-A9Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-IS109TAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-S112Chet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L131Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-T137Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F153Ihet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-M155Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR8U8-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-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
0.25OR8U8-E296Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC7A2-R16Qhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.25SLC7A2-D28Hhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC7A2-A131Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC7A2-A570Thet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THNSL1-Q399Rhomozygous0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25THNSL1-T559Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-V159Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNJ5-C60Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KCNJ5-P273Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KCNJ5-Q282Ehomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL15RA-V196Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IL15RA-N182Thomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHIT1-A442Ghet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM75C1-A278Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-I304Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-G336Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-R350Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-Y462Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-L712Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-M869Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-E1024Qhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-D1109Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-Q1141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RP1-N985Yhomozygous0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HKDC1-T124Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HKDC1-W721Rhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HKDC1-E751*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GVINP1-AA1028VPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GVINP1-A1026Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GVINP1-S993Nhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-H773Nhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-Q573Rhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-M483Vhet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-D321Nhet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-I269Mhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LSP1-A100Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LSP1-Q108Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LSP1-R243Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SLC35C1-I227Vhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), 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
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25ITGA10-A81Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ITGA10-T224Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25PDE4DIP-D1910Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE4DIP-R1867Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25PDE4DIP-A1757Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PDE4DIP-L1729Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PDE4DIP-P1726PPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PDE4DIP-W1396Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE4DIP-C708Rhet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PDE4DIP-R25Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AEBP1-P273Thomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.759 (possibly damaging)
0.25AEBP1-I388Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTSG-N125Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTSG-A16Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC16A6-I399Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC16A6-R328Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC16A6-G307*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC16A6-F303Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC16A6-M265Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC16A6-L257Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC16A6-F204Ihet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRMU-A10Shet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.78 (possibly damaging), Testable gene in GeneTests
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SGSH-V361Ihet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.049 (benign), Testable gene in GeneTests
0.25SLC19A1-H27Rhet unknown0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25APOL4-A318Ehet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25APOL4-R222Hhet unknown0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25APOL4-M158Vhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25APOL4-W116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25APOL4-V12Lhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25APOL4-I9Vhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ESCO1-T820Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ESCO1-T221Mhet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-Q230Rhet unknown0.042Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.895 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFT80-L590Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25IFT80-T584Shet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC9A10-Q732Khet unknown0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.25SLC9A10-V690Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLFN5-R404Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLFN5-P787Lhomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25SLFN5-S823Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATAD5-E135Ghomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.566 (possibly damaging)
0.25ATAD5-K1736*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ATAD5-LGR1737FA*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO15A-C1977Rhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-C4Yhet unknown0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GP6-F606Lhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GP6-R573Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GP6-R573Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GP6-K323Thomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GP6-P314Ahomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.121 (benign)
0.25GP6-A249Thomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GP6-E237Khomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GP6-P219Shomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNS1-G1196Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TNS1-R1004Whet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNS1-T528Ihet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANKRD36-K5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKRD36-G675AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD36-L825Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD36-M1144Thet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD36-W1280Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HK2-D73Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HK2-Q142Hhet unknown0.190Unknown
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
0.25FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF607-K531Rhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF607-K531Rhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LTN1-M1103Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LTN1-V807Ihet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LTN1-G611Chet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LTN1-L449Shomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-R335Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.785 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25ASXL1-F272Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ASXL1-L814Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BPIL1-K31Mhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.508 (possibly damaging)
0.25BPIL1-F83Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CAMTA2-A867Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CAMTA2-A267Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HERC2-S1680Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HERC2-R61Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HERC2-E57*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-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
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25C5orf42-R898Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf42-Q895Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CELA1-L210Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-R18Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AP3B1-V585Ehet unknown0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-E825Dhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RNF39-E338Ghet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-G263Chet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-P260Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRP1-Q2900Phomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP1-D4193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP10B-I1222Thomozygous0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25ATP10B-C217Rhet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP10B-R153*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CCDC110-L815Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC110-I614Mhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC110-Y500Dhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC110-S409Fhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC110-L299Mhet unknown0.484Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC110-P209Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBXO8-D151Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FBXO8-T145Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SH2B1-A663Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.25ABCC6P1-S9Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCC6P1-K68Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PHF3-V525Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.25PHF3-S1091*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PHF3-T1367Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC030111-C15RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC030111-C106*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUC4-A4693Shomozygous0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC4-M4309Ihomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC4-T945Shomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC4-R917*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CGNL1-Q47*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CGNL1-T380Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CGNL1-S459Fhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CGNL1-T511Ahet unknown0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
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
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-G713Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ADAMTSL3-L869Fhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SHROOM3-L147Hhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-G279Ahomozygous0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-P469Ahet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-V999*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SHROOM3-E1014Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SHROOM3-L1225Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25FRAS1-D32Ghomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FRAS1-K630Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FRAS1-G1023Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FRAS1-A1042Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FRAS1-K2378Ehomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FRAS1-V3566Ihomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CSPG4-R1842Qhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.695 (possibly damaging)
0.25CSPG4-R1703Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25CSPG4-S1610Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0TAF1-A931Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0BBS9-L733Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0FANCL-T347Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0PEX1-I696Mhet unknown0.027Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0CCR5-S185Shifthet unknown0.048Recessive
protective
Insufficiently evaluatedPrioritization score: 2
Frameshift
0CBS-I278Thet unknown0.003Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview
0NYX-A196*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0LRP5-V667Mhet unknown0.041Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,624,841,486 bases (92.7% of callable positions, 86.8% of total positions)

Coding region coverage: 31,318,727 bases (94.3% of all genes, 95.0% 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

Gene search

"GENE" or "GENE A123C":

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