hu2B8562 - GET-Evidence variant report

Variant report for hu2B8562

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
2CCDC40-A83ShiftHighWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
Causes primary ciliary dyskinesia in a recessive manner. Becker-Heck et al. report seeing this homozygously twice and heterozygously four times in patients from 24 families. Antony et al. report this variant accounts for 69% of disease mutations found in patients of North European ancestry.1
3RYR2-G1886SHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0613424Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.1
4SLC3A1-M467TModerateWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
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
5BCHE-D98GModerateWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
A well-established recessive variant causing "Butyrylcholinesterase deficiency" or "pseudocholinesterase deficiency". According to Yen, et al. this is the most well-studied variant causing that deficiency. This causes increased sensitivity to choline esters and certain other drugs.1
6WNT10A-F228IModerateWell-establishedWell-established pathogenic

Unknown, Heterozygous
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
7DRD2-S311CLowLikelyLikely pathogenic

Dominant, Heterozygous
0.0168247Various studies report this variant in a dopamine receptor is associated with increased risk for schizophrenia. Assuming an average 1% chance of schizophrenia in the general population, combined data suggests carriers of this variant have a risk of 1.4% (0.4% increased risk above average).1
8MTRR-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
9rs5186LowLikelyLikely 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
10AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
11MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
12BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Homozygous
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
13RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
14TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
15SP110-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
16ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
17MAD1L1-R59CLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.00356043Hypothesized to be involved in prostate cancer, but no statistically significant data. Using more detailed variant frequency information, the variant does not appear to be enriched in the cancer samples reported by Tsukasaki et al.1
18TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
19ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
20rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
21PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
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
22CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
23IL7R-T244ILowLikelyLikely protective

Unknown, Homozygous
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
24DTNBP1-P272SLowUncertainUncertain protective

Recessive, Carrier (Heterozygous)
0.0351366Possibly a slight protective effect against colorectal cancer if homozygous.1
25MC4R-V103ILowUncertainUncertain protective

Unknown, Heterozygous
0.016174This variant was associated with a reduced incidence of obesity in a large meta-analysis of more than 55,000 individuals. 1
26IRS2-G1057DLowUncertainUncertain protective

Unknown, Heterozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
27ADA-D8NLowLikelyLikely benign

Dominant, Heterozygous
0.0295359This common variant is reported to reduce adenosine deaminase enzyme activity. It has been associated with an increased tendency for non-REM sleep -- more slow wave sleep, less nocturnal wakings, and a stronger negative impact of sleep deprivation. A role for this gene and variant was previously proposed for autism susceptibility, but this is controversial and was not replicated by later studies.1
28JAK3-P151RLowLikelyLikely benign

Unknown, Heterozygous
Reported in ClinVar to cause Severe Combined Immunodeficiency Disease (aka "bubble boy disease"). However the variant is carried by nearly 1 in 100 individuals with European ancestry, and 1 in 12,000 are predicted to be homozygous. The disease is extremely rare -- highest estimate is 1 in 50,000 -- the high frequency of this variant means it cannot be a cause of this disease.1
29NEFL-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
30NLRP3-V200MLowLikelyLikely benign

Unknown, Heterozygous
Reported to cause familial cold urticaria by Hoffman et al, in a dominant manner. However the variant is quite common (1 in 50 Europeans is a carrier) while the disease is extremely rare (<1 in 1 million) -- therefore the variant can't be causing this effect.1
31PMS2-P470SLowLikelyLikely benign

Unknown, Homozygous
0.374884Benign, common variant.1
32FANCI-P55LLowLikelyLikely benign

Unknown, Heterozygous
0.0507529Probably benign.1
33CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
34RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Homozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
35GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
36AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
37DSPP-R68WLowUncertainUncertain benign

Unknown, Homozygous
0.143045Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism.1
38APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
39POLG2-G416ALowUncertainUncertain benign

Unknown, Heterozygous
0.0119025Rare but presumed benign. It was believed to be non-causal in a patient with a different mutation, and functional analysis found no difference from wild type.1
40PCCA-I475VLowUncertainUncertain benign

Unknown, Heterozygous
0.0377394Reported as a polymorphism, tentatively presumed benign.1
41TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
42SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
43RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
44PCSK9-G670ELowUncertainUncertain benign

Unknown, Heterozygous
0.888269This variant is likely benign. 1
45PALB2-E672QLowUncertainUncertain benign

Unknown, Heterozygous
0.0244469Probably benign.1
46TCIRG1-R56WLowUncertainUncertain benign

Unknown, Heterozygous
0.0441778Probably benign. One publication implicates the variant in causing osteopetrosis, but this is contradicted by the relatively high allele frequency for the variant in Caucasians (5%, 1 in 400 homozygous) while that disease is extremely rare (1 in 250,000).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30680176 / 33212919 = 92.37%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.1645487129358151286138955553-955753, 957582-957842, 970657-970704, 976054-976260, 976553-976769, 976869-976928, 976942-976976, 977018-977082, 977336-977380, 977398, 977421-977440, 977485, 977495-977498, 977512-977541, 978619-978667, 978681-978822, 978928, 978949-978991, 978998, 979013-979112, 979203-979223, 979242-979244, 979249-979279, 979305-979338, 979349-979403, 979489-979493, 979518-979614, 979625-979637, 979714-979769, 979775-979816, 980541-980553, 980564-980657, 980739-980820, 980828-980858, 980875-980903, 981114-981189, 981208-981213, 981234-981250, 981351-981354, 981367-981428, 981438-981456, 981468, 981540-981569, 981581-981645, 981777-981807, 981816-981852, 981873-982115, 982200-982337, 982707-982733, 982744-982769, 982779, 982790-982834, 982957-982959, 982964-983016, 983050, 983056-983067, 983156-983213, 983220-983275, 983392-983570, 983577-983745, 984247-984272, 984281, 984294-984363, 984374-984377, 984385-984391, 984401-984439, 984616-984814, 984821-984831, 984946-984967, 984993-985175, 985283-985417, 985613-985660, 985691-985709, 985824, 985836, 985840-985883, 985886, 985909-985923, 985954, 985965-985966, 986106-986122, 986138, 986163-986217, 986633-986657, 986664-986749, 986833-986974, 986986-987002, 987108-987126, 987132-987183, 989133-989159, 989169-989224, 989230-989258, 989274-989355, 989828-989848, 989858-989880, 989886-989921, 990204-990206, 990216-990219, 990225-990299, 990305-990316, 990328-990331, 990341-990357
2GABRD10.23988226637233103313591950863-1950930, 1956381-1956394, 1956410, 1956420-1956493, 1956773-1956783, 1956803, 1956814-1956840, 1956957-1956994, 1956997-1957000, 1957015, 1957019-1957049, 1957070-1957148, 1957162-1957177, 1959022-1959059, 1959077, 1959594-1959610, 1959619, 1959625, 1959631-1959638, 1959642, 1959646, 1959661, 1959673-1959731, 1960550-1960705, 1960990-1961021, 1961032-1961071, 1961094, 1961099, 1961107, 1961127-1961201, 1961422-1961451, 1961456-1961464, 1961476-1961498, 1961503, 1961509-1961510, 1961522-1961563, 1961579-1961615, 1961632-1961721
3PEX1010.727828746177372679812337923-2337960, 2337976, 2338033-2338035, 2338165, 2338173, 2338180-2338183, 2338248-2338249, 2338262-2338270, 2338291, 2338314, 2339970, 2339996-2340048, 2340051, 2340148-2340150, 2340153-2340159, 2340162-2340164, 2340200, 2340228, 2340266, 2340270-2340279, 2340288-2340297, 2341822, 2341830, 2341875, 2343830-2343941
4NPHP410.8993225881803343142815923971-5924008, 5924522-5924564, 5934557, 5934563, 5934646-5934650, 5934962, 5935060-5935108, 5947458, 5950956-5950958, 5964679-5964685, 6012782-6012786, 6021889-6021892, 6021897, 6027408, 6027413-6027414, 6029147-6029178, 6029192-6029202, 6029232-6029247, 6029283-6029294, 6029312, 6038330-6038473, 6046215-6046265, 6046293, 6046296
5ESPN10.53099415204678120325656485016-6485148, 6485170-6485194, 6485203-6485302, 6485305, 6485309, 6488286-6488293, 6488300-6488341, 6488372-6488401, 6488429, 6488433-6488464, 6488466-6488467, 6500314-6500325, 6500352-6500394, 6500410-6500425, 6500451-6500489, 6500499, 6500686-6500868, 6500994-6500999, 6501008-6501047, 6501074, 6504669, 6504736-6504742, 6505726-6505753, 6505776-6505798, 6505813-6505941, 6508720-6508746, 6508760-6508766, 6508828-6508864, 6508885, 6508922-6508946, 6508973-6508982, 6509017-6509060, 6509100-6509106, 6509139-6509151, 6511706, 6511907-6511942, 6511953-6511959, 6512037-6512052, 6512106-6512148, 6520059-6520070, 6520087, 6520154-6520157, 6520163-6520165, 6520202-6520206
6PLEKHG510.7623079335214875831896527885-6527913, 6527917-6527928, 6527961, 6527966-6527986, 6528022-6528059, 6528076-6528105, 6528160-6528174, 6528252-6528258, 6528262-6528274, 6528309-6528326, 6528377, 6528380, 6528390-6528393, 6528508-6528511, 6528515-6528519, 6528522-6528532, 6528537-6528542, 6528548, 6529112-6529113, 6529183-6529185, 6529188, 6529209, 6529212, 6529215, 6529219-6529224, 6529398-6529402, 6529439, 6529443, 6529470-6529510, 6529677, 6529680, 6529686, 6529699-6529704, 6529727-6529736, 6530337-6530348, 6530675, 6530849-6530859, 6530862-6530865, 6530893, 6530939-6530944, 6531050-6531087, 6531093-6531096, 6531105, 6531116-6531126, 6531599, 6531602, 6531618-6531630, 6531648, 6531832-6531867, 6532627-6532631, 6532638-6532639, 6532657-6532662, 6533327-6533328, 6533405-6533419, 6533504, 6534085, 6534098-6534100, 6534163-6534170, 6534194-6534216, 6534511-6534521, 6534543-6534551, 6534562-6534564, 6534577-6534578, 6534611-6534647, 6535116, 6535122, 6535130-6535154, 6535181-6535198, 6535522-6535582, 6535991, 6536015, 6537616-6537628, 6537690, 6537699, 6556554-6556579, 6556593-6556629, 6557380-6557383
7PARK710.9877192982456175708030954-8030958, 8030961-8030962
8KIF1B10.9932241671372136531310292465-10292466, 10328275-10328291, 10351152-10351159, 10384928-10384929, 10397260-10397261, 10402223-10402226, 10425593
9PEX1410.74603174603175288113410659331, 10659335, 10659341-10659342, 10683178, 10684410-10684413, 10684424-10684427, 10684433, 10684440-10684461, 10687362-10687374, 10687394-10687420, 10689599, 10689644-10689683, 10689704-10689723, 10689752, 10689755-10689756, 10689772-10689802, 10689815-10689840, 10689850-10689914, 10689953-10689963, 10689966, 10690013-10690026
10TARDBP10.86104417670683173124511076926-11076957, 11078790-11078794, 11080616-11080622, 11082275-11082287, 11082322-11082362, 11082530, 11082573-11082609, 11082630-11082666
11MASP210.43425521591461166206111086953-11086979, 11087205-11087207, 11087213, 11087222, 11087233-11087253, 11087299, 11087373-11087390, 11087430, 11087509, 11087524, 11087527, 11087570, 11087598-11087614, 11087665-11087667, 11087699, 11090805-11090823, 11090837-11090838, 11090845-11090854, 11090896-11090899, 11090907, 11090916, 11094885, 11094902-11094944, 11097750-11097803, 11097815-11097816, 11097822-11097868, 11102932-11103079, 11103396-11103592, 11105465-11105596, 11106613-11106790, 11106948-11107043, 11107049-11107176, 11107260-11107264
12MTHFR10.89548452562151206197111852370-11852371, 11853987, 11854101-11854116, 11854484-11854487, 11854532-11854538, 11854558-11854562, 11854593-11854595, 11854791-11854814, 11854846-11854868, 11855375-11855405, 11861218, 11861255-11861271, 11861309-11861331, 11861354-11861379, 11862987-11862999, 11863084-11863093
13PLOD110.88095238095238260218411994849, 11994853, 11994880, 12008041, 12008045-12008047, 12009847-12009851, 12009861, 12009953, 12012687-12012691, 12012748, 12012753, 12012774, 12012777-12012782, 12014887, 12017971, 12018585, 12018686, 12020742-12020744, 12020760, 12020779-12020800, 12023591, 12023606, 12023634, 12023667-12023693, 12024232, 12024240-12024243, 12024275, 12024312, 12024325, 12024339, 12024723, 12024733-12024745, 12024754, 12024833-12024834, 12024838-12024842, 12025543-12025548, 12026310-12026311, 12026314-12026343, 12026348-12026350, 12026365-12026373, 12027044-12027057, 12027126-12027128, 12030728, 12030750, 12030758-12030782, 12030804, 12030814, 12030826, 12030830-12030834, 12030843-12030873, 12033002, 12034787-12034792, 12034795
14MFN210.9771328056288552227412049255, 12052698-12052701, 12059130, 12066595-12066616, 12066701-12066708, 12066734-12066744, 12067112-12067113, 12067168, 12067191, 12069649
15CLCNKA10.71366279069767591206416349115-16349119, 16353085-16353091, 16353221-16353260, 16353893-16353899, 16354391-16354397, 16354590, 16354598-16354600, 16355307-16355320, 16355712, 16355771-16355794, 16356274-16356275, 16356284, 16356475-16356485, 16356497, 16356501-16356505, 16356508-16356536, 16356956-16356997, 16357020-16357133, 16357144-16357169, 16358205-16358254, 16358698-16358786, 16358938-16358966, 16359681-16359716, 16360106-16360152
16CLCNKB10.64583333333333731206416370988-16371014, 16371053-16371059, 16372053-16372071, 16372081-16372101, 16372134-16372152, 16373035-16373062, 16373079-16373085, 16373124, 16373129-16373146, 16374430, 16374433, 16374533, 16374536, 16374999-16375006, 16375014, 16375042, 16375652-16375654, 16375659-16375660, 16375664, 16376113-16376119, 16376149-16376193, 16376392-16376401, 16377033-16377057, 16377087-16377095, 16377370-16377390, 16377421-16377464, 16377481, 16378026-16378042, 16378223-16378248, 16378278-16378310, 16378693-16378737, 16378766-16378848, 16378855-16378887, 16380134-16380140, 16380156, 16380163, 16380193, 16380196, 16380210-16380216, 16380228-16380233, 16380240, 16381930-16381938, 16381961-16382005, 16382170-16382203, 16382224-16382240, 16382954-16382969, 16382976-16382979, 16382986, 16383364-16383377
17ATP13A210.89387524696585376354317312740-17312768, 17312846-17312853, 17313047-17313058, 17313348-17313354, 17313405, 17313578-17313580, 17313584-17313621, 17314879-17314886, 17314942, 17314949-17314966, 17316239, 17316492-17316495, 17318556, 17318619-17318624, 17318783, 17318807-17318813, 17318816-17318818, 17319011-17319012, 17320266-17320281, 17322477-17322488, 17322530, 17322589-17322591, 17322600-17322602, 17322619-17322625, 17322884-17322916, 17322984, 17322987-17322991, 17323515-17323538, 17323556, 17323586-17323610, 17323651-17323656, 17326510-17326513, 17326540-17326546, 17326574-17326612, 17326619-17326637, 17326895-17326902, 17328840-17328847, 17331214, 17332047, 17332209-17332210
18SDHB10.947805456702254484317350527-17350537, 17354309, 17355114-17355120, 17355209, 17371319-17371342
19ALDH4A110.93735224586288106169219201922-19201941, 19203713-19203733, 19208194-19208218, 19208238, 19208249-19208255, 19208343, 19209812-19209834, 19212967, 19215918-19215924
20PINK110.995990836197027174620960385, 20971160-20971165
21ALPL10.99682539682545157521900158-21900162
22HSPG210.8850182149362515151317622149827-22149836, 22149918, 22149922, 22149926-22149937, 22149951, 22150118, 22151048-22151059, 22151252, 22154540-22154544, 22154585, 22154624-22154645, 22154753-22154757, 22154831-22154832, 22155343, 22155467-22155468, 22155511-22155512, 22155548, 22155946-22155968, 22155994, 22156095-22156097, 22156583-22156584, 22161209-22161213, 22163430-22163432, 22165412-22165416, 22165898-22165902, 22167634-22167642, 22167648-22167659, 22167710-22167724, 22168040-22168048, 22168068-22168071, 22168076-22168084, 22168090-22168091, 22168106, 22168112, 22168118-22168122, 22169815, 22169919-22169925, 22170708, 22170785-22170786, 22172636-22172641, 22172720-22172742, 22172993, 22173089-22173092, 22173893, 22173907-22173909, 22174566-22174569, 22174577-22174586, 22175148-22175166, 22175279-22175287, 22175432-22175433, 22175482-22175505, 22176602, 22176644-22176650, 22176856-22176872, 22176897-22176933, 22176949-22176953, 22176964-22176966, 22178184, 22178189, 22178358, 22178581-22178582, 22178601-22178603, 22179211, 22181104, 22181160-22181164, 22181196-22181212, 22181217-22181226, 22181341-22181346, 22181350-22181351, 22181417-22181442, 22181812, 22181816-22181819, 22182016-22182043, 22182046-22182047, 22182050, 22183647-22183653, 22183797, 22183813-22183817, 22183845-22183861, 22186059-22186077, 22186101-22186109, 22186167-22186169, 22186328-22186405, 22186462-22186495, 22186670-22186675, 22186678, 22186723, 22188257-22188261, 22188298, 22188481-22188488, 22190603, 22190615, 22190638-22190645, 22191364-22191373, 22191448-22191474, 22191522-22191532, 22191820-22191858, 22192210-22192223, 22192235-22192237, 22192248-22192256, 22192271-22192277, 22198679-22198683, 22198708-22198726, 22198775-22198809, 22198825-22198848, 22198869-22198870, 22199117, 22199124-22199183, 22199220-22199227, 22199236-22199253, 22199497-22199530, 22199558-22199584, 22200435-22200446, 22200932-22200957, 22201011-22201013, 22201189-22201205, 22201479, 22202150-22202151, 22202155, 22202180, 22202191, 22202356-22202366, 22202427-22202440, 22202461-22202465, 22202490-22202492, 22202518-22202524, 22202737-22202741, 22202778-22202787, 22203015-22203051, 22204982-22204984, 22205076, 22205614, 22206600-22206616, 22206643, 22206674, 22206742-22206747, 22206881-22206930, 22206951-22206958, 22206997-22207012, 22207149-22207157, 22207185, 22207271-22207278, 22207328, 22207848-22207855, 22207915-22207918, 22211141-22211152, 22211295, 22211364-22211372, 22211409, 22211540-22211551, 22211871-22211872, 22213782-22213803, 22213933-22213946, 22214009-22214012, 22214557-22214559, 22216634, 22217094-22217122, 22263648-22263710
23WNT410.9270833333333377105622469339-22469415
24RPL1110.906890130353825053724019099-24019112, 24019162-24019193, 24020377-24020380
25HMGCL10.969325153374233097824134625-24134626, 24134721, 24134752-24134755, 24134803-24134809, 24137233, 24137237, 24137242-24137254, 24151851
26FUCA110.83940042826552225140124175160-24175164, 24180858-24180864, 24186315, 24186359-24186375, 24189704-24189710, 24189725, 24194409-24194446, 24194547-24194640, 24194674-24194698, 24194715, 24194729-24194740, 24194749, 24194754-24194756, 24194764-24194776
27LDLRAP110.960086299892133792725870235-25870266, 25890269-25890273
28SEPN110.88908872901679185166826126722-26126904, 26127537, 26139238
29YARS10.9848771266540624158733244991, 33252004-33252010, 33252580-33252588, 33256809-33256815
30ZMPSTE2410.999299719887961142840747115
31KCNQ410.9161877394636175208841249766-41249776, 41249812-41249859, 41249869-41249889, 41249922-41249964, 41249987-41250025, 41250043-41250049, 41284251-41284255, 41300690
32CLDN1910.940740740740744067543201605-43201615, 43203961-43203977, 43204241-43204252
33LEPRE110.9823609226594339221143212386-43212391, 43212399-43212400, 43212402-43212403, 43212509, 43212516, 43212521-43212523, 43212947-43212948, 43213440, 43213952-43213965, 43215885-43215890, 43232372
34SLC2A110.995943204868156147943394608-43394610, 43395653-43395655
35UROD10.9465579710144959110445478617-45478618, 45478866-45478887, 45479392-45479406, 45479426, 45479437-45479438, 45479446-45479448, 45479462-45479463, 45479680-45479690, 45479700
36MMACHC10.99882214369847184945974483
37POMGNT110.998991427130612198346660229, 46661557
38STIL10.9968968192397212386747728584, 47748054-47748057, 47748112-47748113, 47759151-47759154, 47765702
39ORC110.95939675174014105258652838920-52838928, 52839040, 52840563-52840566, 52841118-52841140, 52841148, 52841153, 52841165-52841176, 52841184-52841195, 52841199, 52841202, 52841257, 52847343, 52849208-52849211, 52849607, 52850323, 52850325-52850331, 52850920, 52854154-52854155, 52854163, 52854300-52854307, 52854920-52854931, 52859349
40DHCR2410.9858156028368822155155340767-55340770, 55340775, 55341718-55341719, 55352593-55352607
41PCSK910.9591149591149685207955505553-55505555, 55505658, 55509682, 55521666-55521667, 55521701-55521725, 55521749-55521760, 55521762-55521769, 55521847-55521850, 55523157-55523164, 55524205-55524206, 55524215, 55524237, 55524271, 55525301-55525313, 55525333-55525335
42ALG610.9764705882352936153063836674-63836680, 63876811-63876833, 63881623-63881628
43CTH10.9474548440065764121870881715-70881717, 70887309, 70895511-70895518, 70895532-70895534, 70896069, 70897799, 70897828, 70897901-70897904, 70904393-70904433, 70904508
44ACADM10.995305164319256127876205742-76205745, 76226815-76226816
45GLMN10.9669467787114859178592731976-92731979, 92737111-92737114, 92754524, 92754606-92754626, 92757037, 92762967-92762975, 92763518-92763535, 92763556
46RPL510.99888143176734189493299194
47ABCA410.998827323365588682294476908-94476915
48DPYD10.9866796621182641307897915756, 98058878, 98144702, 98187066-98187096, 98293670-98293674, 98293685-98293686
49AGL10.98369210697978754599100340736-100340740, 100340743, 100340780-100340782, 100347173-100347199, 100357234, 100357239-100357244, 100357279, 100358010-100358013, 100361911-100361915, 100387186-100387207
50DBT10.98757763975155181449100696354-100696371
51COL11A110.975994135972151315457103343632, 103343636, 103343639-103343648, 103345263-103345282, 103345356, 103364222-103364284, 103364324, 103364497-103364509, 103388892-103388896, 103488388-103488392, 103544344-103544353, 103548361
52GNAT210.9990610328638511065110155406
53GSTM110.27701674277017475657110230496-110230531, 110230795, 110230797-110230799, 110230804, 110230819-110230861, 110231295-110231325, 110231350-110231356, 110231686-110231746, 110231847-110231858, 110231876-110231947, 110232893-110232988, 110233076-110233186, 110235917
54AMPD110.99554367201426102244115215881-115215889, 115217386
55HSD3B210.94995531724754561119119964599-119964605, 119964930-119964967, 119965095-119965096, 119965100, 119965110, 119965218-119965224
56NOTCH210.9908306364617687416120464997-120464998, 120510766, 120512264-120512270, 120539837, 120539955, 120548022-120548068, 120572544-120572550, 120572609-120572610
57HFE210.9929742388758891281145414853, 145414856, 145414860, 145416339-145416344
58PRPF310.99512670565302102052150307539-150307546, 150310726-150310727
59FLG10.79189233546693253612186152276195-152276206, 152276210-152276213, 152276404-152276406, 152276447-152276493, 152276540-152276546, 152276651-152276656, 152276683-152276729, 152276868-152276880, 152276942-152276949, 152277035, 152277038, 152277260-152277275, 152277310, 152277318, 152277338, 152277430-152277443, 152277655-152277698, 152277800-152277829, 152277879-152277920, 152277936-152277981, 152278186-152278192, 152278237-152278250, 152278291-152278293, 152278351-152278384, 152278399-152278438, 152278775, 152279210-152279222, 152279371-152279420, 152279452-152279478, 152279617, 152279628-152279634, 152279666, 152279674-152279677, 152279791-152279819, 152279901-152279923, 152279966-152279981, 152280070, 152280151, 152280157-152280158, 152280176-152280178, 152280200-152280219, 152280297-152280309, 152280338-152280381, 152280423-152280441, 152280478, 152280535-152280542, 152280666-152280704, 152281095-152281121, 152281198-152281241, 152281281, 152281309-152281312, 152281315-152281327, 152281349-152281362, 152281383-152281418, 152281447, 152281484-152281511, 152281519-152281537, 152281546-152281605, 152281651-152281700, 152281742, 152281770-152281782, 152281798-152281824, 152281838-152281840, 152281857, 152281911, 152281944-152281973, 152281995-152282026, 152282071-152282077, 152282107-152282144, 152282241-152282248, 152282382-152282440, 152282463-152282471, 152282539-152282562, 152282565, 152282757-152282789, 152282807-152282808, 152282852, 152282911, 152282978, 152283001-152283005, 152283057-152283075, 152283090-152283111, 152283174-152283182, 152283193-152283194, 152283211, 152283238-152283277, 152283338-152283374, 152283438-152283479, 152283525, 152283528-152283533, 152283540, 152283568, 152283605-152283612, 152283633-152283666, 152283730-152283778, 152283796-152283812, 152283863-152283870, 152283905-152283918, 152284007, 152284010-152284011, 152284031-152284124, 152284159-152284184, 152284193-152284247, 152284308, 152284317-152284328, 152284334-152284335, 152284339, 152284344, 152284350, 152284354-152284366, 152284388-152284413, 152284429-152284436, 152284489, 152284496-152284497, 152284500-152284501, 152284509-152284511, 152284516, 152284519-152284526, 152284547-152284553, 152284618-152284620, 152284675-152284696, 152284721-152284749, 152284770, 152284851-152284858, 152285033-152285053, 152285077, 152285106, 152285112-152285113, 152285118-152285119, 152285133-152285140, 152285167-152285170, 152285204-152285210, 152285213, 152285216-152285218, 152285221-152285223, 152285244, 152285276-152285283, 152285322-152285333, 152285387-152285388, 152285401, 152285409, 152285413-152285416, 152285463-152285496, 152285569-152285570, 152285573-152285585, 152285588, 152285665-152285702, 152285708-152285725, 152285816-152285835, 152285882-152285891, 152285900-152285941, 152285979-152285983, 152286036-152286045, 152286119-152286123, 152286155-152286166, 152286354-152286362, 152286387-152286404, 152286541, 152286545-152286555, 152286723, 152286790-152286791, 152286856-152286908, 152286949-152286950, 152286956-152286967, 152286994-152287048, 152287192-152287197, 152287200-152287207, 152287866-152287931
60TPM310.99650349650353858154164407-154164409
61GBA10.9950341402855481611155204838, 155205013-155205019
62PKLR10.97971014492754351725155269973-155270007
63SEMA4A10.99343832020997152286156131162-156131176
64NTRK110.99372647427854152391156830748-156830758, 156830764-156830766, 156830769
65SLC19A210.99330655957162101494169437905-169437914
66F510.99520599250936326675169510380, 169510499-169510528, 169510650
67DARS210.923116615067081491938173794368-173794377, 173794396-173794402, 173794442-173794470, 173795825, 173795840-173795860, 173795920-173795921, 173799798-173799819, 173800724, 173802515-173802521, 173802554, 173807388-173807397, 173808571, 173810019-173810022, 173810035, 173814367-173814372, 173819539-173819549, 173823025-173823026, 173826697-173826703, 173826838-173826843
68SERPINC110.9942652329749181395173876651-173876652, 173878812, 173878914-173878915, 173879912-173879914
69NPHS210.9973958333333331152179544843-179544844, 179544874
70NCF210.9993674889310611581183532675
71HMCN110.9925479063165412616908185892574-185892614, 185892632, 185892671-185892673, 185892699-185892707, 185892742-185892743, 185892748-185892758, 185894317-185894323, 185970816-185970832, 185972878-185972889, 185972951, 185987439-185987449, 186062678-186062688
72CFH10.97862554112554793696196682894-196682913, 196682982-196682996, 196684885, 196716353-196716395
73CFHR110.994964753272915993196797292, 196801042, 196801049, 196801053, 196801078
74CFHR510.98304093567251291710196967317, 196967333-196967360
75ASPM10.9746981023576826410434197055984-197055990, 197057511-197057530, 197059109, 197060134-197060143, 197061115, 197069608, 197069637, 197069731, 197069835-197069856, 197069912-197069927, 197069938, 197069941, 197070015-197070016, 197070049-197070064, 197070071, 197070415-197070420, 197070490, 197070530, 197070697-197070711, 197070830-197070842, 197070845, 197070897-197070901, 197070982, 197071108-197071109, 197071330, 197071342, 197071606-197071618, 197071735-197071750, 197071828-197071843, 197071991-197071997, 197072105, 197072833, 197072919-197072925, 197073399, 197073449-197073452, 197073561, 197073956, 197073964, 197073975, 197074130-197074132, 197074226, 197074256-197074288, 197074291, 197086978, 197111998-197112000, 197112735-197112738
76CACNA1S10.9989327641408865622201030517-201030520, 201081325-201081326
77PKP110.9995414947271912181201263169
78REN10.99918099918111221204128721
79USH2A10.997885835095143315609215807845, 216138775, 216251467-216251472, 216251475-216251477, 216369924, 216371919-216371926, 216390764, 216390772, 216424348, 216496831, 216496837, 216496846-216496853
80LBR10.9994588744588711848225611661
81PSEN210.98589458054937191347227071416-227071417, 227071525, 227071529-227071531, 227073361-227073370, 227076622-227076623, 227083279
82ADCK310.902777777777781891944227152821-227152828, 227152847-227152851, 227152863-227152872, 227152878, 227152918, 227153012-227153014, 227153372-227153375, 227169743-227169749, 227169792-227169798, 227170444-227170464, 227170648, 227171269-227171279, 227171307-227171334, 227171797-227171808, 227171843, 227171870, 227171873, 227171882-227171927, 227172290-227172294, 227172335-227172337, 227174419-227174431
83GJC210.400757575757587911320228345460-228345462, 228345482-228345514, 228345538-228345575, 228345636, 228345676, 228345679-228345681, 228345684, 228345689, 228345716-228345787, 228345826-228345827, 228345846-228345855, 228345887-228345937, 228345961-228345982, 228346001-228346014, 228346020-228346118, 228346126-228346162, 228346165-228346170, 228346178-228346211, 228346247, 228346266, 228346281-228346330, 228346358-228346450, 228346454, 228346465-228346497, 228346502, 228346516-228346538, 228346580-228346584, 228346602-228346681, 228346705-228346779
84ACTA110.712522045855383261134229567255, 229567268, 229567295-229567325, 229567520, 229567524, 229567528, 229567546, 229567555, 229567597-229567637, 229567761-229567762, 229567782-229567809, 229567872-229567932, 229568028, 229568069-229568104, 229568110-229568155, 229568321-229568327, 229568395-229568421, 229568453-229568454, 229568483-229568514, 229568776-229568777, 229568786-229568788
85AGT10.99039780521262141458230845780-230845790, 230845794, 230845855-230845856
86LYST10.995440995967035211406235856765, 235875411, 235880043-235880045, 235897928, 235907279-235907287, 235907360-235907361, 235909643, 235916495-235916501, 235933499, 235933505-235933524, 235971915-235971920
87EDARADD10.995370370370373648236645661-236645663
88ACTN210.9985102420856642685236889300-236889303
89MTR10.9986835176408653798236959007-236959009, 236973881, 237024537
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91FH10.99021526418787151533241669367-241669372, 241672046-241672049, 241672057-241672061
92NLRP310.9996785599485713111247587169
93NET1100.99944165270798117915498551
94IL2RA100.99877899877918196063457
95GATA3100.99625468164794513358100737-8100741
96OPTN100.9942329873125710173413151246-13151253, 13178865-13178866
97CUBN100.99586092715232451087216941161-16941162, 17083146-17083150, 17083198-17083204, 17085899, 17085914-17085917, 17142007, 17142010, 17146467-17146490
98PTF1A100.7862208713272521198723481460, 23481509-23481539, 23481590-23481592, 23481648-23481676, 23481737-23481767, 23481792-23481807, 23481841-23481847, 23481852-23481875, 23481897, 23481903, 23481908-23481914, 23481940-23481953, 23481956, 23482081-23482121, 23482703-23482706
99MYO3A100.9975262832405712485126414394, 26414401-26414402, 26414504-26414512
100MASTL100.998483124762994263727456166-27456167, 27459011, 27475444
101RET100.979671150971668334543572707-43572768, 43595947, 43598048-43598051, 43600604
102ERCC6100.97634984381972106448250732267-50732273, 50732331-50732337, 50732348, 50732667, 50732670-50732676, 50740655, 50740667-50740685, 50740785-50740821, 50740851-50740876
103PCDH15100.9855663100696285588955582215, 55582218-55582228, 55582524-55582527, 55587163-55587177, 55591122-55591124, 55591176-55591187, 55663015, 55663026-55663028, 55698709, 55755518, 55826562-55826590, 55826641-55826642, 55944995, 55996691
104EGR2100.9818308874912626143164573467-64573492
105KIAA1279100.99839228295823186670760270-70760272
106NODAL100.9760536398467425104472201242-72201254, 72201292-72201301, 72201356, 72201406
107SLC29A3100.9726890756302539142873082566, 73082569-73082578, 73082602-73082615, 73082708-73082715, 73111346-73111349, 73115950, 73121945
108CDH23100.977426412092282271005673206117-73206121, 73439144-73439146, 73439169-73439180, 73439199-73439229, 73439245-73439249, 73442232-73442261, 73447448-73447453, 73447457-73447462, 73447476, 73455259-73455270, 73455273, 73455282, 73461870, 73461873, 73462364, 73464684-73464691, 73464766-73464791, 73464819-73464821, 73464872, 73464876-73464887, 73468889, 73472422, 73490274, 73490280-73490286, 73537509-73537539, 73569814-73569817, 73571162-73571166, 73571174-73571177, 73573083-73573089
109PSAP100.99682539682545157573578868, 73587862, 73587865, 73590993-73590994
110VCL100.9917767988252628340575834605-75834606, 75849953, 75854127, 75854189-75854197, 75857075, 75873957, 75873983-75873995
111RPS24100.986206896551721287079795436-79795447
112MAT1A100.995791245791255118882043692-82043696
113LDB3100.875273218488428452, 88428457, 88441498, 88451819, 88466318-88466351, 88466406-88466433, 88466464-88466466, 88469675-88469721, 88469789-88469806, 88476088-88476109, 88476128, 88476137, 88476140, 88476153, 88476182-88476212, 88476250-88476272, 88476317-88476335, 88476338, 88476406-88476416, 88476496-88476512, 88476519-88476528, 88477780
114GLUD1100.9677996422182554167788827892, 88854376-88854377, 88854417-88854423, 88854431-88854433, 88854442-88854444, 88854451-88854488
115PTEN100.999174917491751121289624286
116LIPA100.9908333333333311120090974602-90974611, 90988029
117LGI1100.9940262843488610167495517936-95517945
118PLCE1100.999855261253441690996073076
119ZFYVE27100.9741100323624632123699517405, 99519011-99519041
120HPS1100.97245963912631582106100177379-100177415, 100177951-100177956, 100185600-100185608, 100189554-100189559
121COX15100.98296836982968211233101486777-101486797
122ABCC2100.999784389823214638101552082
123C10orf2100.9990267639902722055102750215-102750216
124FBXW4100.97578692493947301239103371134-103371162, 103371426
125HPS6100.9965635738831682328103825443-103825448, 103825747, 103826740
126SUFU100.93470790378007951455104263997-104264009, 104264027-104264050, 104264072-104264091, 104309849-104309861, 104352406, 104353414-104353428, 104356897-104356899, 104357011-104357016
127CYP17A1100.97314996725606411527104590459-104590460, 104592362-104592363, 104593810-104593811, 104593814-104593817, 104595083-104595106, 104596897-104596903
128COL17A1100.99488206497552234494105794073-105794079, 105795110, 105816908-105816922
129SHOC2100.9954259576901181749112769471-112769472, 112769583-112769588
130HABP2100.9964349376114161683115341871-115341876
131EMX2100.9762845849802418759119302793-119302810
132BAG3100.9982638888888931728121411365-121411367
133FGFR2100.9991879821356122463123263304-123263305
134HTRA1100.920997920997921141443124221189-124221237, 124221256, 124221263-124221270, 124221276, 124221352-124221389, 124221430-124221446
135OAT100.9977272727272731320126086532-126086534
136UROS100.9837092731829613798127477437-127477444, 127477456-127477459, 127484681
137HRAS110.62105263157895216570532655, 532666-532677, 532697-532708, 532715, 532719-532721, 532744-532755, 533458, 533462, 533486-533511, 533553-533565, 533599-533601, 533605-533606, 533766-533809, 533842-533868, 533907-533918, 533935-533944, 534212-534241, 534300, 534316-534320
138TALDO1110.624260355029593811014747485-747502, 747534-747561, 755916-755926, 755947, 755963-756002, 758999-759005, 760122-760137, 760224-760226, 763344-763473, 763497, 763509-763511, 763765-763785, 763822, 763854, 763868-763940, 764327, 764347, 764364, 764410-764433
139SLC25A22110.23559670781893743972791915, 791919-791920, 791960-791976, 792023-792068, 792142-792158, 792165-792217, 792310, 792319, 792338-792350, 792353-792373, 792376, 792398-792404, 792420-792458, 792553-792557, 792567-792727, 792877-792909, 792929-792988, 793529-793585, 793592-793614, 793619, 794458-794513, 794776-794827, 794838-794863, 794872-794901, 794987-795006
140PNPLA2110.544554455445546901515819719-819896, 821628-821638, 821668-821683, 821687, 821699, 821702-821703, 821720-821744, 821752-821754, 821764, 821820-821839, 822001-822002, 822005, 822016, 822493, 823527-823587, 823749-823758, 823781-823807, 823809, 823823-823855, 823998-824049, 824055-824088, 824101-824129, 824359, 824364-824365, 824372, 824389-824400, 824523-824537, 824594-824605, 824615-824616, 824634-824678, 824684-824731, 824751-824754, 824788-824789, 824805, 824828-824862
141CTSD110.4729620661824165312391774738-1774743, 1774765-1774767, 1774770-1774786, 1774799-1774846, 1774876, 1774882-1774891, 1774899-1774900, 1775033-1775055, 1775079, 1775085, 1775118-1775131, 1775224-1775238, 1775264, 1775269, 1775272, 1775297-1775327, 1775335-1775368, 1776194-1776200, 1778563, 1778574-1778602, 1778612-1778625, 1778673-1778675, 1778682, 1778709-1778710, 1778765-1778786, 1780199-1780218, 1780228, 1780240-1780285, 1780296-1780317, 1780746, 1780751, 1780754-1780783, 1780789-1780820, 1780827-1780864, 1782539-1782601, 1782620-1782662, 1785022-1785089
142TNNI2110.661202185792351865491861459-1861468, 1861633-1861673, 1861758-1861806, 1861826-1861848, 1861872, 1862054-1862067, 1862081, 1862270-1862296, 1862352-1862354, 1862711, 1862714-1862729
143TNNT3110.223938223938226037771944786-1944794, 1946329-1946345, 1947925-1947939, 1950350-1950373, 1951040-1951057, 1953709, 1953738-1953740, 1954951-1955011, 1955018-1955067, 1955161-1955238, 1955562-1955566, 1955575-1955675, 1955776-1955783, 1955805-1955809, 1955813-1955814, 1955817-1955825, 1955830, 1955836-1955840, 1955850-1955885, 1956059-1956093, 1956100-1956138, 1958193, 1958201-1958205, 1958214-1958233, 1959668-1959722
144H19110.8972922502334311010712017646-2017647, 2017775, 2017788, 2017791, 2017826, 2017829, 2017981-2017988, 2017990-2018029, 2018040-2018043, 2018207-2018247, 2018284, 2018359-2018367
145IGF2110.0661040787623076647112154217-2154453, 2154751-2154895, 2156597-2156689, 2156695-2156759, 2161367-2161430, 2161452-2161500, 2161516-2161526
146TH110.083809523809524144315752185463-2185622, 2186462-2186468, 2186474-2186595, 2186898-2186930, 2186958-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189100-2189163, 2189321-2189339, 2189349-2189409, 2189727-2189732, 2189735-2189780, 2189786-2189792, 2189798-2189864, 2189886-2189895, 2190880-2191094, 2191920-2192000, 2192927-2192928, 2192934-2192951, 2192966-2192993, 2193009
147KCNQ1110.7488921713441751020312466329-2466344, 2466355-2466385, 2466392, 2466408-2466409, 2466414-2466416, 2466420-2466421, 2466433-2466517, 2466526-2466666, 2466710-2466714, 2591930, 2592568-2592581, 2593249, 2593257-2593263, 2593271-2593275, 2593315-2593339, 2604665-2604696, 2604726-2604759, 2606474, 2606485, 2606532-2606537, 2608832-2608852, 2608883-2608898, 2610072-2610084, 2683191-2683212, 2790130, 2790135-2790147, 2797217-2797224, 2869062-2869064
148CDKN1C110.168243953732917919512905237, 2905240, 2905247, 2905253, 2905281, 2905313-2905358, 2905900-2906378, 2906388-2906426, 2906437-2906544, 2906565-2906644, 2906659, 2906662-2906674, 2906700-2906719
149SMPD1110.99683544303797618966411931-6411936
150SBF2110.997837837837841255509838403-9838408, 9838530, 9838535, 9850956, 9867244, 9871690, 10013971
151USH1C110.998518518518524270017548821-17548824
152HPS5110.999705014749261339018318411
153LDHA110.972972972972972799918422496-18422505, 18427054-18427070
154SLC6A5110.998746867167923239420648297-20648299
155ANO5110.998541210795044274222277064-22277066, 22297684
156FANCF110.998222222222222112522646848, 22646984
157WT1110.90862290862291142155432417803-32417807, 32449515-32449522, 32456386-32456389, 32456550-32456556, 32456588, 32456593, 32456603, 32456622-32456625, 32456628, 32456662-32456710, 32456721-32456746, 32456752, 32456767-32456800
158EXT2110.9888734353268424215744146367-44146383, 44228457, 44228465-44228470
159ALX4110.9741100323624632123644286498-44286502, 44286569, 44286582-44286591, 44286604-44286612, 44286733, 44331279-44331281, 44331286-44331287, 44331290
160SLC35C1110.9554924242424247105645827437-45827457, 45827725-45827729, 45827861-45827881
161PEX16110.88472622478386120104145932449-45932475, 45935372-45935377, 45935466-45935467, 45935954-45935961, 45935984-45935996, 45937363-45937381, 45939262-45939306
162F2110.9534510433386887186946740847-46740856, 46744755-46744767, 46745011-46745018, 46747418-46747422, 46747466, 46747474-46747477, 46747505, 46747508-46747511, 46747622-46747631, 46748066-46748071, 46748086, 46749551, 46749561-46749568, 46750330-46750331, 46751019-46751031
163DDB2110.9688473520249240128447237977, 47237981, 47237992, 47238016-47238023, 47256478, 47259689-47259716
164MYBPC3110.95921568627451156382547353680-47353687, 47365047-47365086, 47367888, 47367895-47367905, 47368986, 47370031-47370039, 47371470-47371473, 47371584-47371600, 47372079-47372108, 47372118, 47372122, 47372146-47372152, 47372790-47372809, 47372847-47372852
165SLC39A13110.9283154121863880111647431826, 47433563, 47433908-47433931, 47435009-47435010, 47435048-47435058, 47436007, 47436373-47436395, 47436427-47436436, 47436891-47436897
166RAPSN110.78208232445521270123947459529, 47459536-47459598, 47460285-47460319, 47460375-47460376, 47460410-47460413, 47460439, 47460467-47460482, 47463178-47463211, 47463225-47463252, 47463375-47463381, 47463410, 47464294, 47469549-47469556, 47469614-47469620, 47469693-47469696, 47470344-47470368, 47470383-47470388, 47470406-47470431, 47470447
167NDUFS3110.884276729559759279547602174, 47602411-47602419, 47602428, 47602435, 47602466-47602505, 47603654-47603691, 47603703, 47603990
168TMEM216110.99242424242424226461161413, 61165447
169BEST1110.9738339021615546175861722624-61722631, 61723278-61723279, 61724398-61724410, 61724465-61724470, 61724910-61724925, 61729934
170ROM1110.9611742424242441105662381093-62381095, 62381224-62381236, 62381293-62381304, 62381906-62381917, 62382201
171BSCL2110.9805615550755927138962469940, 62472945-62472970
172SLC22A12110.283393501805051191166264359029-64359046, 64359062-64359117, 64359133, 64359135-64359223, 64359267-64359293, 64359301-64359305, 64359310, 64359329-64359356, 64359367-64359418, 64360251-64360346, 64360877-64360959, 64360983-64361031, 64361107-64361118, 64361132, 64361145-64361226, 64361250-64361275, 64365989-64366023, 64366030-64366032, 64366035, 64366047-64366081, 64366104, 64366283-64366338, 64366349-64366351, 64367148-64367216, 64367226-64367362, 64367839-64367862, 64367884-64367932, 64368207-64368218, 64368228-64368276, 64368289-64368352, 64368406-64368410, 64368966, 64368994-64369014
173PYGM110.85448793989719368252964514270, 64514821, 64518026, 64518798-64518804, 64519090-64519091, 64519099, 64520545-64520561, 64520625, 64521016-64521049, 64521056-64521089, 64521107-64521116, 64521400, 64521418, 64521433-64521449, 64521479-64521486, 64522258, 64522295, 64522302-64522308, 64522817-64522827, 64522919, 64525251-64525270, 64525285, 64525304-64525305, 64525355, 64525718-64525722, 64525741-64525750, 64525955-64525956, 64525986-64525987, 64526075-64526095, 64526136-64526176, 64527128-64527170, 64527205-64527206, 64527228-64527267, 64527303, 64527332-64527351
174MEN1110.91666666666667154184864571835-64571855, 64571875-64571878, 64571971, 64572047, 64572126-64572134, 64572274-64572288, 64572550, 64572557, 64572585, 64572614, 64573146-64573169, 64573197-64573218, 64573801-64573826, 64574564, 64574570, 64575025-64575028, 64577171, 64577174-64577175, 64577244, 64577255, 64577258, 64577300-64577307, 64577358-64577360, 64577363, 64577575-64577576, 64577579
175EFEMP2110.84534534534535206133265634406-65634413, 65634547-65634550, 65635400, 65635425-65635427, 65635460-65635463, 65635766-65635773, 65635861-65635892, 65635993-65636013, 65636078-65636082, 65637331-65637333, 65637345, 65637350-65637351, 65637447, 65637596-65637598, 65637604-65637610, 65637614, 65637667-65637675, 65637686-65637687, 65637705-65637708, 65638047-65638056, 65638646-65638691, 65638831-65638834, 65639728-65639750, 65639822-65639825
176CST6110.897777777777784645065780304-65780342, 65780416-65780422
177BBS1110.997755331088664178266281906, 66281988, 66281991, 66291198
178SPTBN2110.98201589293183129717366468307-66468316, 66468464-66468471, 66468479-66468503, 66468515-66468519, 66472235, 66472247-66472248, 66472251-66472265, 66472578, 66472581-66472583, 66475054-66475060, 66475116-66475124, 66475220-66475229, 66475251-66475262, 66475691-66475694, 66478481, 66481171, 66481174, 66481633, 66481787-66481799
179PC110.96098388464801138353766616465-66616479, 66617202, 66618189, 66618220-66618223, 66618226-66618230, 66618269, 66618309, 66618531, 66618581, 66618666-66618676, 66619333, 66620041-66620043, 66620099-66620131, 66620301-66620307, 66633818, 66637802, 66638597-66638599, 66638647-66638648, 66638812, 66638853-66638855, 66638943-66638951, 66639207-66639213, 66639504-66639529
180CABP4110.6932367149758525482867222922, 67222934-67222935, 67222949-67222992, 67223057-67223059, 67223068-67223075, 67223085-67223119, 67223161, 67223166, 67223172-67223173, 67223190-67223218, 67223234, 67223237-67223238, 67223253, 67223665-67223689, 67223863, 67223904, 67225069, 67225087, 67225131-67225153, 67225865, 67225873-67225928, 67225941-67225945, 67225988-67225989, 67226104-67226109, 67226117, 67226120
181AIP110.2366565961732175899367254487, 67254490, 67254495-67254513, 67254557, 67254566-67254568, 67254576-67254577, 67254581, 67254586, 67254594-67254610, 67254620-67254624, 67254637-67254656, 67256738-67256857, 67256867, 67256880-67256926, 67257509-67257685, 67257787-67257903, 67257909-67257928, 67258260-67258464
182NDUFS8110.7030015797788318863367799659-67799676, 67799782-67799803, 67800390-67800395, 67800465, 67800478, 67800578-67800584, 67800622-67800651, 67800719-67800743, 67803720-67803740, 67803940, 67803943-67803946, 67803954-67803958, 67803969-67803994, 67804040-67804060
183TCIRG1110.549939831528281122249367808741-67808767, 67808818-67808852, 67809230-67809239, 67810110-67810131, 67810174-67810217, 67810238-67810248, 67810254-67810308, 67810443, 67810461-67810498, 67810864, 67810922-67810949, 67810962, 67811064-67811075, 67811089, 67811303-67811314, 67811334-67811373, 67811599-67811624, 67811633, 67811642-67811682, 67811689-67811724, 67811758-67811770, 67811773-67811811, 67812454-67812479, 67812485-67812507, 67812518-67812548, 67814940-67814941, 67814974-67815006, 67815114-67815126, 67815133-67815143, 67815184, 67815190-67815192, 67815210, 67815231-67815257, 67815398, 67816346-67816397, 67816406-67816413, 67816549-67816591, 67816629, 67816689-67816702, 67816720-67816732, 67816735, 67816759, 67817130-67817147, 67817158-67817167, 67817172, 67817179-67817180, 67817204-67817255, 67817525-67817533, 67817608-67817631, 67817656-67817669, 67817673-67817721, 67817954-67818035, 67818044, 67818055, 67818062, 67818065, 67818072-67818082, 67818112-67818129, 67818222-67818233, 67818270-67818286
184LRP5110.88613861386139552484868080183-68080273, 68115335-68115341, 68115389-68115395, 68115582-68115588, 68115672-68115675, 68115706-68115711, 68125124-68125136, 68125248-68125250, 68125311-68125315, 68131215-68131235, 68131271-68131333, 68131348-68131409, 68154038-68154039, 68154179, 68171044-68171045, 68171102, 68174189, 68174268, 68177482, 68177510, 68177549, 68179020-68179044, 68181214, 68181217, 68183890-68183896, 68183946, 68192690, 68193635, 68197150-68197151, 68197159, 68201108, 68201222, 68201295, 68201304-68201306, 68204366-68204368, 68204381-68204385, 68204391, 68204428-68204432, 68204447-68204449, 68204452-68204453, 68205967, 68205978, 68205981-68205998, 68206050, 68206130-68206149, 68207245-68207272, 68207295, 68207306, 68207336-68207378, 68207384, 68213933-68213977, 68216277, 68216300, 68216354-68216363, 68216383, 68216473-68216474, 68216488, 68216498-68216508
185CPT1A110.9694229112833871232268527718-68527723, 68527744-68527746, 68540746-68540747, 68540792-68540830, 68552358-68552359, 68560828-68560835, 68566731, 68575085-68575094
186IGHMBP2110.9896042924211931298268671434, 68671437, 68671470-68671483, 68673642, 68696806-68696813, 68701356-68701359, 68704027-68704028
187DHCR7110.9551820728291364142871146421-71146439, 71146581, 71146673-71146683, 71146691, 71146754-71146762, 71146858-71146880
188LRTOMT110.99771689497717287671816010-71816011
189MYO7A110.5224127557163175664876858844-76858903, 76858913-76858947, 76858973-76858996, 76867017, 76867090, 76867123-76867137, 76867706-76867731, 76867782-76867799, 76867803, 76867952-76867985, 76867995-76867996, 76868000, 76868007-76868028, 76868338-76868343, 76868372, 76868383-76868387, 76868432-76868438, 76869323-76869325, 76869351, 76869366, 76869394-76869395, 76869398-76869420, 76869435, 76869450-76869453, 76869459, 76870493-76870497, 76870533-76870537, 76871209-76871218, 76871257, 76871278-76871309, 76872103, 76872109-76872113, 76872129, 76873249-76873264, 76873301-76873308, 76873325-76873360, 76873899-76873919, 76873948-76873959, 76874006-76874028, 76877138, 76877149-76877175, 76877181-76877187, 76877196, 76883794-76883931, 76885802-76885960, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892431-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895671, 76895688-76895760, 76900389-76900504, 76900512-76900515, 76901065-76901073, 76901086-76901184, 76901742-76901915, 76903096-76903323, 76905424-76905455, 76908531-76908540, 76908552-76908556, 76908573-76908574, 76908621-76908627, 76909540-76909549, 76909577, 76909585, 76909594-76909614, 76909619-76909620, 76910580-76910604, 76910629-76910678, 76910720-76910726, 76910783-76910791, 76910797, 76910838-76910839, 76912534-76912551, 76912651, 76914133-76914137, 76918337-76918342, 76918347, 76918380-76918429, 76919494-76919509, 76919773-76919798, 76922311, 76922337-76922372, 76922881-76922887, 76925012
190ALG8110.9626818469323259158177817853, 77820488-77820532, 77820614-77820616, 77825011, 77825344-77825352
191TYR110.998742138364782159089028531-89028532
192TRPC6110.9985693848354842796101353689, 101353696-101353698
193DYNC2H1110.994515256855937112945102984338-102984372, 102984429-102984432, 102988480, 102991304, 102991308, 102991445, 102996014, 102996023, 103029672-103029682, 103043940, 103270538-103270551
194ACAT1110.99065420560748121284108005924-108005934, 108014755
195ATM110.99454803183949509171108098379-108098382, 108115677-108115679, 108115685, 108115699-108115700, 108122752-108122758, 108188157-108188158, 108188161, 108188164-108188165, 108196132-108196135, 108201044, 108203574-108203594, 108213991, 108216621
196RDX110.97260273972603481752110104133-110104147, 110124722-110124743, 110126064-110126069, 110126073, 110134884, 110134897, 110135512, 110143340
197DLAT110.9969135802469161944111896377-111896378, 111896386-111896389
198PTS110.990867579908684438112097224-112097226, 112104231
199APOA1110.8980099502487682804116706626, 116706635-116706649, 116706716-116706723, 116706735-116706777, 116706797-116706808, 116706855, 116706928-116706929
200FXYD2110.8926940639269447438117693033, 117693036, 117693115-117693130, 117693187, 117693243-117693246, 117693255, 117693404-117693416, 117695384-117695393
201SLC37A4110.993445692883971068118897769-118897773, 118899064-118899065
202HMBS110.9981583793738521086118955744-118955745
203TECTA110.876566125290027986465120973375-120973399, 120979920-120979955, 120979972, 120979991, 120980015, 120980029, 120980053-120980083, 120980094-120980122, 120980183-120980193, 120980196-120980201, 120983781-120983796, 120983824, 120983830-120983864, 120983873-120983918, 120984262-120984276, 120984287-120984288, 120984309-120984345, 120984370-120984427, 120989015-120989039, 120989068-120989097, 120989116, 120989120-120989136, 120989163-120989250, 120989267, 120989306-120989313, 120989335, 120989348-120989354, 120989366, 120989374-120989380, 120989400, 120996047-120996068, 120996124, 120996140, 120996219, 120996254-120996275, 120996317-120996353, 120996365-120996373, 120996421-120996442, 120996461, 120996474-120996485, 120996530-120996540, 120996548-120996549, 120996553, 120996558, 120998482-120998484, 120998487, 120998496, 120998501, 120998569-120998593, 120998606-120998616, 120998647, 120998650, 120998692, 120998705-120998707, 120998750-120998751, 120998754, 120999010, 120999034, 121000477-121000494, 121000740-121000741, 121000823-121000835, 121008260, 121008495, 121008501-121008502, 121016381, 121016609-121016612, 121016685, 121016689-121016690, 121016751-121016759, 121023767, 121032818-121032825
204ROBO3110.99495313626532214161124735525, 124735610-124735629
205WNK1120.99272625542034527149862968-862993, 863117-863124, 863136-863138, 863142, 863207-863213, 968546, 994499, 1017091-1017095
206CACNA1C120.9765279682975215465612621982, 2622040-2622044, 2676735-2676745, 2676752-2676768, 2676814, 2676853-2676896, 2690841-2690843, 2693734, 2705115-2705117, 2774026-2774033, 2774112-2774119, 2783744, 2787009-2787029, 2788896, 2788899-2788901, 2791844, 2794934-2794940, 2794974-2794980, 2795367, 2797644, 2797716, 2797894, 2800351-2800357
207VWF120.9825870646766214784426058298-6058354, 6085416-6085417, 6125722-6125728, 6127943, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166043-6166052, 6204651-6204654
208TNFRSF1A120.984649122807022113686438605-6438611, 6438675, 6438678-6438682, 6450943-6450950
209SCNN1A120.974851394604485521876457078-6457089, 6457132-6457143, 6457318-6457325, 6457378, 6457399, 6457402, 6457407-6457409, 6457413-6457414, 6457418, 6458530-6458540, 6465045, 6483886, 6484079
210TPI1120.95066666666667377506976731-6976735, 6976744-6976750, 6976821-6976845
211ATN1120.994962216624691835737045892-7045894, 7045924-7045926, 7050637-7050641, 7050645-7050647, 7050651-7050653, 7050656
212PEX5120.99736286919831518967356127-7356131
213GYS2120.9910037878787919211221712043-21712061
214ABCC9120.9802150537634492465021965059, 21968779, 21997442-21997443, 21998655-21998666, 22015910-22015911, 22015986-22015988, 22025559-22025590, 22046974-22046975, 22063222-22063224, 22063231-22063246, 22068614-22068625, 22068664-22068669
215BCAT1120.993970714900957116125047214-25047220
216KRAS120.954385964912282657025380250-25380251, 25380293-25380295, 25380307-25380314, 25398221-25398233
217FGD4120.9713168187744566230132734894, 32735019-32735038, 32735142-32735152, 32735235-32735266, 32763726, 32763760
218DNM1L120.9601990049751288221132866143-32866160, 32866173-32866212, 32866235-32866236, 32866240, 32866244-32866268, 32886736-32886737
219PKP2120.9956245027844111251432974390, 33049444-33049450, 33049566, 33049571, 33049575
220KIF21A120.9879663056558460498639703471-39703473, 39705241-39705255, 39705296-39705337
221LRRK2120.9973628691983120758440619082, 40626185, 40646736-40646738, 40702449, 40713901, 40734217, 40748270, 40753095, 40757302, 40757307-40757308, 40761524-40761530
222IRAK4120.9674620390455545138344161990, 44166734-44166751, 44172091-44172096, 44180247-44180266
223VDR120.9704049844236838128448249534-48249541, 48251345-48251374
224MLL2120.8483206933911225201661449420065-49420067, 49420232-49420239, 49420246, 49420354, 49420444, 49420600, 49420603-49420607, 49420610-49420615, 49420769-49420780, 49420819-49420821, 49420826, 49420837, 49420959-49420964, 49421061-49421069, 49421072, 49421630, 49421805-49421806, 49421878, 49421881-49421886, 49421893, 49422619-49422664, 49422852-49422881, 49423257, 49424075-49424083, 49424087, 49424090, 49424122-49424140, 49424150-49424154, 49424158, 49424162-49424168, 49424459-49424479, 49424482, 49424535-49424541, 49424704, 49424709, 49424738-49424744, 49424803, 49425047, 49425074-49425112, 49425131-49425151, 49425168, 49425192-49425193, 49425265-49425282, 49425311-49425323, 49425395-49425429, 49425437-49425486, 49425497, 49425592-49425597, 49425600, 49425617-49425618, 49425622, 49425637-49425639, 49425646-49425650, 49425653, 49425670-49425687, 49425724-49425757, 49425763-49425843, 49425880, 49425884, 49425931-49425932, 49425940-49425953, 49425956-49425957, 49425962, 49426049-49426050, 49426059-49426079, 49426123-49426198, 49426211-49426219, 49426342, 49426429-49426438, 49426457-49426489, 49426507-49426509, 49426513-49426526, 49426572-49426713, 49426726-49426796, 49426803-49426809, 49426822-49426845, 49426851, 49426857-49426858, 49426893-49426972, 49427052-49427073, 49427076, 49427082-49427086, 49427094, 49427099, 49427177-49427181, 49427196-49427290, 49427313-49427321, 49427400-49427450, 49427479, 49427545, 49427561, 49427566-49427600, 49427622, 49427626, 49427635, 49427643, 49427661-49427699, 49427724-49427732, 49427872-49427876, 49427881, 49427885-49427886, 49427890, 49427893-49427896, 49427902-49427905, 49427986-49427988, 49427991-49427997, 49428001-49428007, 49428038-49428043, 49428193, 49428639-49428692, 49430922-49430929, 49430932-49430934, 49430940, 49430970-49430978, 49431000-49431024, 49431066-49431110, 49431153, 49431190-49431221, 49431245-49431269, 49431275-49431324, 49431342-49431345, 49431392, 49431397, 49431455, 49431472, 49431486-49431527, 49431536-49431542, 49431552-49431603, 49431610-49431617, 49431626, 49431631, 49431658-49431691, 49431701-49431734, 49431745-49431759, 49431787-49431788, 49431824-49431829, 49431832, 49431840-49431842, 49431857-49431874, 49431882-49431885, 49431892, 49431903-49431925, 49431953-49431955, 49431967, 49431970, 49431974-49431996, 49432005, 49432009, 49432036-49432044, 49432071-49432091, 49432108-49432138, 49432155, 49432201-49432220, 49432286-49432308, 49432482-49432510, 49432527, 49432569, 49432607-49432653, 49432689-49432690, 49432703, 49432707, 49433005-49433025, 49433092-49433093, 49433124-49433141, 49433240, 49433248, 49433258, 49433284-49433334, 49433363-49433369, 49433518-49433544, 49433583-49433589, 49433628-49433630, 49433731-49433739, 49433743, 49433748, 49433755, 49433762, 49433876-49433904, 49433933-49433936, 49433998-49434045, 49434056-49434093, 49434101-49434122, 49434263-49434265, 49434426, 49434509-49434523, 49434888, 49435163-49435164, 49435972-49435975, 49438225-49438226, 49438593, 49439876-49439877, 49439880, 49441748-49441788, 49443472, 49443539, 49443543, 49443570, 49443574, 49443827-49443833, 49444013, 49444171-49444177, 49444434-49444436, 49445085
225DHH120.9596977329974848119149483717, 49483782-49483794, 49488172-49488205
226TUBA1A120.964912280701751645649522213, 49522263, 49522311, 49522386, 49522400, 49522445, 49522457, 49522468, 49522575, 49522578, 49522620-49522625
227AQP2120.99877450980392181650344631
228KRT81120.88866930171278169151852680985, 52681416, 52681814-52681815, 52682999-52683040, 52683864-52683865, 52683872, 52683877, 52683965-52683967, 52683970, 52683982, 52684026-52684070, 52684910, 52684915-52684923, 52684950-52684956, 52684995, 52685022-52685023, 52685074, 52685077, 52685111, 52685156-52685192, 52685227-52685235
229KRT86120.86789869952088193146152695713-52695719, 52695760, 52695771-52695775, 52695822-52695824, 52695978-52696000, 52696014-52696035, 52696884-52696938, 52696965-52696996, 52697086-52697092, 52697895-52697911, 52697948-52697955, 52699024-52699025, 52699545-52699551, 52702355-52702358
230KRT83120.964237516869153148252713119-52713129, 52714966-52714969, 52715034-52715071
231KRT6B120.9840707964601827169552843632-52843637, 52844349-52844355, 52845432-52845438, 52845798-52845804
232KRT6C120.992920353982312169552866012, 52866042-52866043, 52867094, 52867105, 52867457-52867463
233KRT6A120.995870206489687169552886908-52886914
234KRT5120.999435984207561177352908996
235KRT2120.99843753192053043754-53043756
236KRT1120.99844961240313193553069235, 53072487-53072488
237KRT4120.999439775910361178553207603
238AAAS120.9445460085313891164153701273-53701274, 53701392-53701400, 53701451-53701452, 53701634, 53701643-53701660, 53702123-53702124, 53702236-53702237, 53702591-53702594, 53703046-53703052, 53708125-53708136, 53708173-53708176, 53708535-53708551, 53709130-53709140
239RDH5120.99895506792059195756115585
240MYO1A120.999680715197961313257431770
241KIF5A120.997741206840927309957944129-57944130, 57944135-57944138, 57963367
242GNS120.9644364074743859165965138665-65138677, 65152979-65153024
243LEMD3120.9963450292397710273665639528-65639535, 65640104-65640105
244BBS10120.99631675874778217276741197-76741204
245CEP290120.96680107526882247744088443129-88443137, 88462314-88462332, 88462381, 88471527-88471535, 88481622, 88481627-88481638, 88504995-88505001, 88505622-88505635, 88519059-88519062, 88523496, 88523499-88523538, 88523544-88523546, 88524133-88524149, 88532922-88532963, 88534735-88534756, 88534791-88534810, 88535018-88535024, 88535057-88535075
246TMPO120.9630695443645177208598909764-98909766, 98921718-98921726, 98925616, 98926615, 98927122, 98927251, 98927263-98927269, 98927294-98927301, 98927436-98927439, 98927531-98927544, 98927634, 98927637-98927640, 98927827, 98927935-98927940, 98928012-98928013, 98928074-98928075, 98928079-98928090
247GNPTAB120.9984089101034263771102224431-102224436
248UNG120.9787685774946920942109535580-109535582, 109539721-109539732, 109547765-109547769
249MVK120.98992443324937121191110012687-110012693, 110034244-110034248
250TRPV4120.911314984709482322616110221441, 110221459, 110221541, 110222158-110222159, 110222212, 110224530, 110224576, 110224579, 110224585, 110224589-110224594, 110224632-110224642, 110226237-110226238, 110226250-110226263, 110226287-110226293, 110226381-110226387, 110230186-110230188, 110230224-110230234, 110230527, 110230576-110230579, 110230589-110230597, 110231393, 110232134, 110232262, 110234361, 110234426, 110234505, 110236607, 110236655, 110238484-110238505, 110238516-110238522, 110238546-110238563, 110240870-110240897, 110246104-110246134, 110246151-110246178, 110246203, 110246270-110246273
251ATP2A2120.9977628635346873129110719607-110719613
252MYL2120.9720558882235514501111348947-111348960
253ATXN2120.848300355149675983942111891481-111891482, 111894015, 111926371, 111926379, 111926389-111926394, 111926472, 111957745, 111991962, 112036602, 112036613-112036942, 112036955-112037004, 112037020-112037058, 112037064-112037133, 112037185, 112037190, 112037206-112037227, 112037241, 112037250-112037318
254SDS120.998986828774061987113836574
255ACADS120.97417271993543321239121174904, 121175753-121175773, 121176232-121176241
256HNF1A120.822784810126583361896121416622, 121416704-121416708, 121416763, 121416766-121416771, 121434077, 121434144-121434151, 121434186, 121434196-121434212, 121434357-121434401, 121434421-121434429, 121434455-121434475, 121434478, 121435277-121435278, 121435284, 121435289, 121435354-121435359, 121435408-121435413, 121437073-121437094, 121437127-121437138, 121437173-121437192, 121437323-121437347, 121437361-121437369, 121437390-121437417, 121438876-121438938, 121438952-121438976
257HPD120.97208121827411331182122281700-122281701, 122284977, 122286948-122286954, 122287680-122287693, 122294230-122294235, 122295668, 122295673, 122295703
258EIF2B1120.992374727668857918124114739-124114745
259ATP6V0A2120.99260987942435192571124197157-124197160, 124197193, 124228414-124228418, 124235686-124235694
260PUS1120.912772585669781121284132414329-132414334, 132414505-132414526, 132414562-132414574, 132414617-132414650, 132416741-132416743, 132416793-132416812, 132426010, 132426080-132426083, 132426092, 132426296-132426302, 132426425
261SACS130.9990538573508131374023908426, 23908429, 23911483-23911484, 23911787, 23912983, 23914306-23914307, 23915011, 23915267-23915268, 23932536, 23949272
262CENPJ130.999751058003491401725466955
263B3GALTL130.987307949231819149731774222-31774240
264BRCA2130.8830067271131912001025732893339-32893375, 32893431-32893445, 32893448-32893449, 32899236-32899242, 32899317-32899321, 32900241, 32900401-32900419, 32900650-32900666, 32900745-32900750, 32903624-32903629, 32905125-32905134, 32906495, 32906499-32906514, 32906553-32906569, 32906695-32906713, 32907073, 32907076, 32907115-32907161, 32907198-32907203, 32907369-32907379, 32907503-32907505, 32910425-32910437, 32910477-32910480, 32910495-32910534, 32910552-32910562, 32910604-32910653, 32910757-32910790, 32910909-32910910, 32910936, 32910961-32910965, 32911071-32911074, 32911101, 32911188-32911195, 32911296-32911301, 32911347-32911349, 32911353-32911370, 32911397, 32911400-32911411, 32911421-32911442, 32911557-32911601, 32911643-32911693, 32911722-32911748, 32911764, 32911779, 32911861-32911890, 32911968-32912004, 32912030, 32912045-32912054, 32912134, 32912174-32912194, 32912238, 32912309-32912312, 32912334-32912362, 32912412-32912445, 32912452-32912490, 32912508-32912545, 32912656-32912661, 32912664, 32912693-32912714, 32912792, 32912795-32912800, 32912997-32912999, 32913111, 32913206, 32913212, 32913219-32913231, 32913283-32913285, 32913295-32913303, 32913315-32913317, 32913357-32913402, 32913454-32913462, 32913503-32913509, 32913569, 32913679-32913709, 32913756-32913772, 32913832-32913847, 32913867, 32913874-32913881, 32914096-32914100, 32914208-32914212, 32914354-32914356, 32914359-32914361, 32914494-32914500, 32914532-32914538, 32914541-32914545, 32914585-32914594, 32914729, 32914787-32914790, 32914893, 32914936-32914941, 32915310-32915312, 32918727-32918735, 32920976, 32920987-32920990, 32930565-32930568, 32944662, 32945107-32945108, 32950901-32950902, 32953486-32953488, 32953514-32953515, 32953617-32953642, 32953928, 32954012, 32954269-32954282, 32968983, 32971067-32971074, 32972624-32972626
265FREM2130.9968454258675130951039261568-39261570, 39261919-39261925, 39265101-39265110, 39265113-39265121, 39343856
266SLC25A15130.98785871964681190641373283-41373287, 41373403, 41381450, 41381456-41381457, 41381519, 41382661
267TNFSF11130.99895178197065195443180900
268SUCLA2130.9554597701149462139248528290, 48570979-48571003, 48571039-48571074
269RB1130.997129529960538278748878114, 48919226, 49039168-49039171, 49039177-49039178
270ATP7B130.9845384265575368439852508893-52508902, 52508930-52508952, 52509071-52509094, 52509097, 52509120-52509126, 52511412, 52518342, 52548786
271EDNRB130.9781790820165529132978475242, 78475252-78475259, 78477489-78477491, 78477690-78477706
272SLITRK1130.998087039693934209184453805-84453807, 84453811
273GPC6130.997002398081535166894482611-94482615
274ZIC2130.782989368355223471599100634334-100634345, 100634379-100634414, 100634425-100634457, 100634608, 100634687-100634706, 100634942-100634949, 100635008-100635013, 100635065-100635075, 100637327-100637363, 100637580-100637598, 100637631-100637639, 100637677-100637699, 100637723-100637775, 100637792-100637833, 100637837-100637838, 100637850-100637852, 100637884-100637907, 100637916, 100637930-100637936
275PCCA130.9977137631458652187100741457-100741458, 100982835, 101101506-101101507
276COL4A1130.9988023952095865010110804850, 110807701, 110838798, 110959313-110959315
277F7130.1400749063670411481335113760156-113760219, 113765004-113765019, 113765042-113765106, 113765109, 113765112-113765117, 113765130-113765134, 113765148-113765164, 113768066-113768090, 113768161-113768215, 113768234-113768270, 113769974-113770114, 113771089-113771114, 113771156-113771189, 113771794-113771847, 113771877-113771910, 113772727-113772766, 113772772-113772829, 113772838-113773044, 113773052-113773276, 113773285-113773322
278F10130.897068847989091511467113777170-113777175, 113777192-113777232, 113783824-113783831, 113798226-113798234, 113798372-113798379, 113803542, 113803556-113803599, 113803706-113803707, 113803757-113803760, 113803804-113803831
279GRK1130.710401891252964901692114321703, 114321710, 114321715-114321719, 114321758-114321783, 114321792-114321882, 114321926-114321938, 114321943, 114321992-114322005, 114322011-114322021, 114322030, 114322033, 114322041, 114322047, 114322069-114322094, 114322108-114322153, 114322163-114322189, 114322207-114322224, 114322237-114322254, 114322266-114322271, 114322273-114322274, 114322289, 114322312-114322319, 114322357-114322374, 114324035-114324040, 114325815, 114325826, 114325870-114325903, 114325935-114325971, 114426047-114426068, 114426077, 114426081-114426096, 114426099, 114434225, 114435873, 114435876, 114435879-114435881, 114435888, 114435907-114435912, 114435941-114435944, 114435949, 114435952, 114435956-114435957, 114436017, 114436024-114436033, 114436057-114436058
280TEP1140.9908675799086872788420841170-20841174, 20848173, 20851760-20851776, 20852644, 20854704-20854720, 20854734, 20854748-20854777
281PABPN1140.966340933767643192123790692, 23790696-23790702, 23790963-23790985
282MYH6140.998625429553268582023871941-23871948
283MYH7140.999311294765844580823886750, 23893262-23893264
284NRL140.922969187675075571424550549-24550562, 24550588-24550597, 24550608, 24550625-24550630, 24551765-24551767, 24551823-24551843
285PCK2140.999479979199171192324572446
286TGM1140.9625101874490692245424718739, 24723870-24723874, 24723922, 24723999-24724015, 24724029-24724030, 24724240-24724249, 24724254, 24724303-24724310, 24724392-24724395, 24727516, 24727579-24727590, 24728361-24728372, 24729742-24729749, 24731335-24731336, 24731449-24731456
287FOXG1140.7952380952381301147029236531-29236534, 29236616, 29236684-29236964, 29237055-29237066, 29237121, 29237324, 29237327
288COCH140.999395039322441165331353824
289NKX2-1140.85489220563847175120636986521, 36986528, 36986532, 36986579-36986586, 36986662-36986663, 36986675, 36986698-36986722, 36986750-36986764, 36986815-36986852, 36986859-36986934, 36988377-36988383
290FANCM140.9861721164795885614745606400, 45618112, 45623168-45623174, 45623974-45624008, 45644310-45644311, 45644398, 45644459-45644473, 45644510, 45646102-45646104, 45669150-45669168
291MGAT2140.9918154761904811134450088444-50088447, 50088520-50088523, 50088560, 50089005-50089006
292C14orf104140.87271280827367320251450092397, 50092405-50092410, 50094758-50094759, 50094762, 50100429, 50100448, 50100567, 50100584-50100591, 50100599-50100603, 50100668-50100679, 50100683, 50100716-50100759, 50100774-50100779, 50100784, 50100809-50100837, 50100904-50100947, 50100975-50101014, 50101047-50101048, 50101058-50101060, 50101088-50101091, 50101161, 50101180, 50101218-50101221, 50101226, 50101229-50101249, 50101265, 50101353-50101356, 50101363-50101364, 50101370, 50101408-50101430, 50101534, 50101537, 50101541-50101542, 50101561-50101562, 50101573, 50101685, 50101689-50101711, 50101714, 50101717, 50101795-50101799, 50101825-50101833, 50101836-50101837
293L2HGDH140.9497126436781670139250713777-50713795, 50713826, 50713900-50713904, 50745245-50745266, 50778752-50778772, 50778815-50778816
294ATL1140.9873646209386321166251054670, 51057757-51057773, 51062335-51062337
295GCH1140.8645418326693210275355369051-55369068, 55369213-55369242, 55369249-55369284, 55369341-55369352, 55369376-55369381
296SIX1140.99883040935673185561115420
297SYNE2140.99932445473847142072464483276, 64488694, 64529482-64529488, 64580269-64580272, 64593141
298ZFYVE26140.9952755905511836762068238814-68238819, 68241757-68241763, 68242675-68242677, 68242685, 68242692, 68251115-68251121, 68251821-68251825, 68251889-68251894
299VSX2140.89042357274401119108674706368-74706370, 74706384-74706404, 74706408-74706411, 74706460-74706478, 74706560, 74706599-74706607, 74706630, 74726305-74726306, 74726313, 74726335-74726341, 74727370-74727407, 74727517-74727520, 74727544-74727551, 74727595
300EIF2B2140.9545454545454548105675471500-75471507, 75471536-75471557, 75471586-75471603
301MLH3140.997936726272359436275513514-75513517, 75514157-75514161
302ESRRB140.9548133595284969152776957795-76957818, 76964664-76964701, 76964726-76964731, 76964794
303POMT2140.92720816688859164225377743814-77743816, 77744794, 77744836-77744842, 77745085-77745127, 77745193, 77745197-77745203, 77746209, 77746246-77746251, 77769242, 77778320-77778321, 77786850-77786857, 77786906-77786949, 77786968-77787007
304VIPAR140.9601889338731459148277894751-77894757, 77900635-77900639, 77917640-77917668, 77919642-77919647, 77919703-77919707, 77920364-77920370
305TSHR140.9934640522875815229581562990-81563004
306ATXN3140.9714548802946631108692530685-92530688, 92537323-92537335, 92537354-92537360, 92548780-92548785, 92559647
307VRK1140.9790092359361925119197313661-97313666, 97319411-97319425, 97322514-97322517
308AMN140.02276064610866413311362103389026-103389068, 103390048-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395472, 103395494-103395505, 103395511-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396587, 103396593-103396664, 103396743-103396830, 103396913-103397017
309INF2140.2346666666666728703750105167703-105167711, 105167722-105167781, 105167787, 105167790, 105167810-105167814, 105167820-105167921, 105167945-105168010, 105168044-105168059, 105168063-105168090, 105169442-105169473, 105169480-105169520, 105169539-105169557, 105169632-105169668, 105169673, 105169694-105169741, 105169747-105169791, 105170253-105170280, 105172372-105172408, 105172422-105172513, 105173247-105173271, 105173280-105173304, 105173308-105173309, 105173319-105173322, 105173371-105173374, 105173590-105173591, 105173600-105173625, 105173638, 105173647-105173810, 105173826-105173829, 105173844-105174339, 105174773-105174791, 105174809-105174848, 105174854-105174860, 105174887-105174924, 105175034-105175069, 105175618-105175627, 105175637-105175700, 105175960-105176042, 105176425-105176525, 105177274-105177284, 105177303-105177311, 105177314, 105177327-105177344, 105177416-105177523, 105177992-105178036, 105178778-105178815, 105178824-105178828, 105178831-105178889, 105179178-105179194, 105179204-105179216, 105179227-105179233, 105179255-105179329, 105179544-105179572, 105179578-105179646, 105179788-105179865, 105179905-105179943, 105180540-105180556, 105180568, 105180592-105180615, 105180627, 105180637-105180638, 105180642-105180644, 105180658, 105180683-105180712, 105180735, 105180752-105180815, 105180832-105180880, 105180887-105180900, 105180913-105180940, 105180954-105180996, 105181009-105181035, 105181041-105181064, 105181075-105181078, 105181086-105181139, 105181176-105181184, 105181190-105181193, 105181621-105181625, 105181638-105181662
310NIPA1150.7747474747474722399023048986-23048988, 23048996-23049017, 23049035, 23049038-23049041, 23049052, 23049141-23049151, 23049251, 23049308, 23052632, 23086234-23086411
311OCA2150.9920540325784720251728228492-28228494, 28273136-28273152
312ACTC1150.998236331569662113435083318, 35083352
313SPRED1150.993258426966299133538614479-38614480, 38614590-38614595, 38643418
314CHST14150.9814323607427121113140763449-40763452, 40763500-40763514, 40763531, 40763535
315CAPN3150.997140522875827244842678365-42678369, 42678372, 42691761
316CDAN1150.9913137893593932368443019942, 43021786-43021795, 43022924-43022934, 43029269-43029278
317TTBK2150.999196787148593373543038007, 43038010, 43103977
318STRC150.9938063063063133532843892272, 43893088, 43896918, 43900299-43900305, 43900351-43900364, 43908559, 43910224, 43910228, 43910867-43910872
319STRC150.998974358974362195044009686, 44009690
320SPG11150.95267321331151347733244855416, 44856885-44856891, 44858415-44858422, 44858427-44858429, 44859628, 44859631, 44859683-44859688, 44859698, 44859733-44859742, 44864890-44864897, 44864899-44864907, 44864951-44864957, 44865008-44865013, 44865017-44865018, 44867132-44867134, 44867190-44867211, 44867236-44867239, 44876019, 44876276, 44876547-44876586, 44876595-44876630, 44877937-44877938, 44877941-44877942, 44881547, 44884594-44884596, 44887507, 44887627, 44888287, 44888290, 44888331, 44889136, 44890513, 44892779, 44900793, 44903098, 44907599, 44907603, 44912432-44912448, 44912509-44912515, 44914496-44914502, 44914507-44914533, 44914948-44914949, 44918564-44918565, 44918575-44918580, 44918622, 44918625-44918626, 44918637, 44918648-44918657, 44918682-44918688, 44920927-44920933, 44921456-44921472, 44925719-44925732, 44943733, 44943902-44943911, 44943962-44943968, 44944104-44944107, 44952714
321DUOX2150.9950505702603823464745392414-45392419, 45392972, 45393021, 45398484-45398487, 45403349, 45403585, 45403588, 45405224-45405228, 45405231, 45405566-45405567
322SLC12A1150.999696969696971330048591462
323FBN1150.999535747446614861648741085, 48773975, 48788412, 48791197
324CEP152150.9909365558912445496549036437-49036454, 49036462-49036463, 49037170-49037178, 49037187, 49059542-49059546, 49059569-49059576, 49059579-49059580
325RAB27A150.957957957957962866655516126-55516153
326TPM1150.99883040935673185563335087
327PPIB150.99539170506912365164455171-64455173
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329HEXA150.994968553459128159072668278-72668285
330HCN4150.84053156146179576361273614903, 73615036-73615045, 73615056-73615057, 73615070, 73615109-73615115, 73615390-73615404, 73616224-73616230, 73616277-73616290, 73616503-73616504, 73659827-73659854, 73659862-73659905, 73659955-73659998, 73660030-73660061, 73660074-73660102, 73660119-73660181, 73660201, 73660205-73660232, 73660240-73660250, 73660256-73660307, 73660322-73660329, 73660346-73660383, 73660399-73660404, 73660413-73660420, 73660429-73660447, 73660466-73660532, 73660560-73660565, 73660579-73660611
331MPI150.997641509433963127275185575-75185577
332ETFA150.9780439121756522100276523704, 76588003-76588023
333PSTPIP1150.066346922462031168125177310489-77310589, 77310798-77310872, 77317625-77317628, 77317643-77317659, 77317839-77317909, 77317943-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
334FAH150.999206349206351126080467404
335RPS17150.96568627450981440882822752-82822758, 82824415-82824421
336RPS17150.8755140883207084-83207101, 83208732-83208764
337FANCI150.9972410333584111398789835960, 89836051-89836059, 89856143
338POLG150.90564516129032351372089864989-89864997, 89865052-89865058, 89866010-89866019, 89866698-89866700, 89867105-89867124, 89867346, 89867353-89867361, 89867427-89867431, 89868916, 89871687-89871690, 89871747-89871753, 89871934-89871983, 89872016-89872037, 89872174-89872208, 89872231-89872232, 89873350-89873353, 89873365, 89873370-89873375, 89873406, 89873477-89873481, 89876512-89876519, 89876596-89876600, 89876631-89876682, 89876741-89876758, 89876806-89876864, 89876873-89876879
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340BLM150.9332393041843284425491292911, 91293080, 91295056, 91303423-91303443, 91303843, 91303846-91303854, 91303902-91303909, 91303961-91303970, 91304049-91304098, 91304140, 91304149-91304161, 91304227-91304228, 91304268, 91304284-91304304, 91304374-91304399, 91304443-91304463, 91308526-91308536, 91312788-91312789, 91337397-91337405, 91337427, 91337434-91337445, 91337449-91337457, 91337477, 91337522-91337535, 91337544, 91337566, 91337574-91337587, 91341472-91341489, 91346787, 91354604-91354606
341VPS33B150.9854368932038827185491542254, 91542258, 91542264, 91548926-91548934, 91551149, 91565401-91565409, 91565418-91565422
342IGF1R150.9951267056530220410499192891-99192904, 99500581-99500586
343HBZ160.41724941724942250429202919-202985, 203000-203003, 203899, 203934, 203938-203939, 203948, 203951-203964, 203969-203971, 203991-204014, 204043-204088, 204271-204331, 204355-204380
344HBM160.997652582159621426216341
345HBA2160.70862470862471125429222929, 222979-223006, 223144, 223172-223195, 223203-223237, 223243-223261, 223292-223298, 223530-223539
346GNPTG160.805010893246191799181401967-1402018, 1402103-1402119, 1402130-1402148, 1402151, 1402159-1402160, 1402240-1402261, 1402272-1402307, 1411782, 1412100-1412113, 1412254-1412259, 1412267-1412268, 1412271, 1412284, 1412321, 1413047-1413050
347CLCN7160.49669148056245121724181496632-1496669, 1496679-1496718, 1497011-1497014, 1497024-1497034, 1497042, 1497054-1497087, 1497393-1497490, 1497516-1497545, 1497557, 1497567-1497569, 1497656-1497715, 1498356-1498373, 1498384-1498400, 1498410-1498436, 1498457-1498485, 1498682-1498688, 1498694, 1498697-1498746, 1498752-1498767, 1498968-1499017, 1499025-1499073, 1499089-1499094, 1499277-1499324, 1500514-1500547, 1500553-1500590, 1500608-1500667, 1501624-1501628, 1501632-1501635, 1501647-1501678, 1501692-1501717, 1502756-1502770, 1502780-1502813, 1502847-1502886, 1502889-1502890, 1502894, 1503858-1503878, 1503894, 1504412-1504426, 1504459-1504466, 1505164, 1505176-1505179, 1505228, 1505244, 1506123-1506172, 1507327-1507338, 1507737, 1509110-1509150, 1509185-1509188, 1510907-1510910, 1511412, 1511434, 1511438, 1524835-1524948, 1524957-1524963
348IGFALS160.47256728778468101919321840623-1840683, 1840721, 1840731-1840755, 1840784-1840833, 1840864-1840887, 1840892, 1840935, 1840945-1840960, 1840963-1840972, 1840992, 1841003-1841036, 1841051-1841064, 1841088-1841188, 1841213-1841240, 1841246-1841270, 1841286-1841320, 1841332-1841343, 1841362-1841397, 1841416-1841463, 1841476-1841477, 1841515-1841553, 1841562, 1841564-1841568, 1841578-1841627, 1841679-1841686, 1841753-1841760, 1841807-1841816, 1841827-1841862, 1841881, 1841884-1841900, 1841929-1841935, 1841952, 1841960-1841968, 1841971-1841974, 1842028-1842136, 1842193, 1842209, 1842217-1842225, 1842261-1842323, 1842335, 1842346-1842349, 1842359-1842416, 1842435-1842471, 1843639-1843653
349GFER160.493527508090613136182034220-2034293, 2034302-2034424, 2034449-2034477, 2034748-2034761, 2034862-2034864, 2034867-2034869, 2034890-2034896, 2034926-2034931, 2035867-2035878, 2035914-2035929, 2035956-2035970, 2036000-2036001, 2036010, 2036022-2036029
350TSC2160.16666666666667452054242098641-2098685, 2098716, 2098727-2098754, 2100421-2100428, 2100467, 2100482-2100487, 2103343-2103345, 2103348-2103350, 2103394-2103453, 2104344-2104360, 2104402-2104413, 2104435-2104441, 2105406, 2105411-2105414, 2105423, 2105476-2105483, 2105495-2105514, 2106197-2106226, 2106658, 2106669, 2107157, 2108748-2108809, 2108821-2108828, 2108835-2108848, 2108870-2108874, 2110671-2110686, 2110712-2110814, 2111872-2111874, 2111879-2111888, 2111903, 2111933, 2111939-2111941, 2111948, 2111961-2111997, 2112003-2112009, 2112498-2112549, 2112570-2112597, 2112973-2112988, 2113002-2113009, 2113016-2113054, 2114273-2114428, 2115520-2115547, 2115562, 2115565-2115622, 2115632-2115636, 2120457-2120516, 2120539-2120576, 2121511-2121609, 2121615-2121617, 2121785-2121935, 2122242-2122263, 2122282-2122364, 2122850-2122857, 2122877-2122903, 2122927-2122984, 2124201-2124390, 2125800-2125893, 2126069-2126171, 2126492-2126586, 2127599-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132452, 2132459-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136740, 2136753-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
351PKD1160.001084262701363112898129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2143888, 2143896-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185496, 2185504-2185690
352ABCA3160.8402737047898381751152326687-2326703, 2326744-2326747, 2326755, 2327653-2327671, 2327881, 2327902, 2327906-2327908, 2327912, 2327942-2327951, 2328062-2328070, 2328362, 2328378-2328413, 2328436-2328447, 2328975-2328992, 2329055-2329058, 2331088, 2331387-2331390, 2331469, 2331505-2331508, 2333192-2333250, 2334280-2334281, 2334322-2334364, 2334836, 2334855, 2334861, 2334867-2334888, 2334956-2334999, 2335448-2335465, 2335471-2335522, 2336696, 2336705-2336707, 2336743-2336755, 2338039-2338046, 2338074-2338098, 2338138, 2338206, 2339556-2339565, 2339569, 2339591-2339598, 2342141-2342159, 2342200-2342203, 2345591-2345607, 2345631, 2345649-2345650, 2347339-2347383, 2347396-2347443, 2347467-2347483, 2347492-2347518, 2347538, 2347776-2347780, 2347784, 2347885, 2347918-2347922, 2349404-2349421, 2349438, 2349461-2349475, 2350013-2350034, 2350087-2350107, 2353970-2353996, 2354061-2354067, 2354137-2354138, 2354149-2354151, 2358514-2358516, 2358596, 2358610-2358612, 2367764, 2369640-2369666, 2369802, 2376037-2376047
353MEFV160.9445865302642813023463293221-3293232, 3293411-3293414, 3293486-3293493, 3293623-3293645, 3294270-3294280, 3294482-3294485, 3294502, 3294512, 3296533-3296542, 3299641, 3304279-3304285, 3304434, 3304463, 3304657, 3304671-3304673, 3304678-3304680, 3306333-3306345, 3306359, 3306405-3306428, 3306463
354SLX4160.982016348773849955053632439, 3632527-3632535, 3633107, 3633279, 3639180, 3639362-3639363, 3639379, 3639455-3639458, 3639664-3639665, 3639775, 3639994-3639995, 3642815, 3642860-3642866, 3644462, 3644559, 3647582, 3647647-3647648, 3647810-3647819, 3647825, 3647890-3647892, 3647894-3647912, 3651007-3651012, 3651020-3651022, 3651167-3651173, 3652225, 3656475-3656485
355CREBBP160.9725747032337320173293777720, 3777723, 3777792-3777818, 3778050-3778054, 3778142-3778146, 3778149-3778155, 3778299-3778319, 3778375-3778381, 3778386-3778400, 3778446-3778453, 3778480-3778486, 3778560-3778566, 3778652, 3778790, 3778878-3778901, 3778911, 3778934-3778940, 3778953, 3778957-3778959, 3778963-3778985, 3779018-3779024, 3779159-3779168, 3779480, 3779491-3779497, 3779660-3779661, 3929834, 3929897
356GLIS2160.041269841269841151015754382295-4382431, 4382438-4382445, 4383348-4383483, 4383493-4383502, 4383509-4383520, 4384802-4384911, 4384935-4384978, 4385061-4385194, 4385276-4385394, 4386726-4387525
357ALG1160.8043010752688227313955121893-5121905, 5127979, 5128835-5128842, 5128845, 5128848-5128879, 5129065-5129091, 5129102, 5129807, 5130947-5131057, 5132636, 5132653, 5132660-5132661, 5133683-5133696, 5134813-5134846, 5134857-5134882
358ABAT160.983366600133072515038858621, 8866658-8866661, 8873396-8873415
359MYH11160.995622895622926594015797923, 15797932-15797944, 15850201-15850203, 15850209-15850217
360ABCC6160.770390070921991036451216244548-16244553, 16248638, 16253360-16253367, 16253393-16253397, 16253423-16253426, 16255296-16255328, 16255333-16255334, 16255346-16255374, 16255378-16255421, 16256871-16256877, 16256897, 16256965-16257001, 16257035-16257049, 16259480-16259609, 16259631-16259654, 16259675-16259701, 16259718-16259743, 16259758-16259790, 16263505-16263559, 16263583-16263632, 16263636, 16263657-16263710, 16267141-16267226, 16267252-16267261, 16269768-16269804, 16269817-16269823, 16269826-16269828, 16271309-16271324, 16271354-16271457, 16271471, 16272657-16272661, 16272679-16272683, 16272687-16272695, 16272747-16272787, 16276289-16276299, 16276379-16276385, 16276423-16276425, 16276692-16276734, 16276746-16276765, 16276778-16276787, 16278816-16278820, 16278867-16278869, 16291971, 16291983, 16292003-16292005, 16313697, 16315652-16315658, 16317270, 16317273, 16317279-16317281
361UMOD160.995839833593348192320359886, 20360320-20360326
362OTOA160.990643274853832342021689841, 21690505-21690507, 21696637, 21696657-21696664, 21698766-21698772, 21698817, 21702959, 21726343, 21739726-21739732, 21739735, 21739738
363SCNN1B160.999479979199171192323392071
364PALB2160.9957877000842515356123614785, 23614965, 23634358, 23635388-23635394, 23647407, 23647635-23647638
365CLN3160.9643128321943847131728497669-28497692, 28498993-28499010, 28499912-28499916
366TUFM160.9700292397660841136828857285-28857286, 28857394-28857402, 28857417-28857420, 28857539-28857554, 28857557-28857562, 28857565-28857568
367ATP2A1160.9773785761809768300628890000, 28893884-28893887, 28895903-28895911, 28895958-28895967, 28898855, 28900108-28900115, 28900174-28900177, 28909375, 28909601-28909606, 28915501-28915524
368PHKG2160.9565929565929653122130760142-30760155, 30760187, 30760191, 30760199-30760215, 30760224, 30764760, 30764768-30764779, 30768256, 30768302-30768305, 30768360
369VKORC1160.969512195121951549231102542-31102548, 31102609-31102612, 31105988-31105991
370FUS160.9848197343453524158131193880-31193886, 31193898-31193900, 31195279, 31195293-31195296, 31195688-31195690, 31195693-31195698
371SLC5A2160.94353640416048114201931495994, 31497526, 31498665, 31499053-31499067, 31499808-31499811, 31500010-31500013, 31500037-31500065, 31500256-31500266, 31500327-31500353, 31500513-31500532, 31501445
372PHKB160.997867154174287328247732373-47732379
373NOD2160.9942363112391918312350733741, 50744870, 50745056, 50745483-50745489, 50745533-50745537, 50745796-50745797, 50745802
374CYLD160.9877707896575835286250785629-50785631, 50785733-50785746, 50811740, 50826591-50826607
375SALL1160.9964779874213814397551175656-51175669
376RPGRIP1L160.9896149949341441394853672234-53672241, 53672306-53672322, 53691365-53691378, 53706876, 53726049
377BBS2160.998153277931674216656518725, 56519589, 56548494, 56548501
378SLC12A3160.83931458131264497309356899219, 56899224-56899228, 56899288-56899291, 56899338-56899340, 56900982-56901007, 56901032-56901040, 56901092-56901095, 56901107-56901110, 56902209-56902227, 56902268-56902284, 56903669, 56904026-56904028, 56904554-56904556, 56904565-56904573, 56906286-56906298, 56906324-56906352, 56906568-56906571, 56911989-56912014, 56912025, 56912029-56912032, 56912035-56912073, 56913002-56913024, 56913065-56913066, 56913095-56913127, 56913541-56913561, 56914042-56914048, 56914051, 56914117-56914118, 56914165, 56916382-56916383, 56917961-56917984, 56918088-56918107, 56920278, 56920385-56920386, 56920917-56920921, 56920928-56920934, 56920989-56920991, 56921837-56921838, 56921848-56921916, 56921922-56921943, 56924188-56924191, 56926938-56926948, 56936337-56936340, 56936399-56936402, 56938354, 56938370-56938371
379GPR56160.9549418604651293206457687914-57687915, 57687943, 57687947-57687949, 57689342-57689344, 57689347-57689372, 57689825-57689832, 57689883, 57693463, 57693466-57693469, 57695680-57695690, 57695747-57695771, 57695860-57695867
380CNGB1160.999733759318421375657996514
381TK2160.982683982683981692466583956-66583962, 66584013-66584021
382HSD11B2160.83908045977011196121867465152-67465191, 67465204-67465279, 67465293-67465334, 67465355-67465359, 67465395-67465396, 67465402-67465416, 67469915-67469918, 67469921, 67469924, 67470152-67470160, 67470736
383LCAT160.7687074829932306132367973847-67973884, 67973926-67973939, 67973953, 67973969-67973991, 67974027-67974029, 67974057-67974061, 67974068-67974071, 67974105-67974113, 67974162-67974170, 67974172-67974173, 67974314-67974327, 67974347, 67976289-67976296, 67976414-67976428, 67976484, 67976583, 67976604-67976632, 67976769-67976790, 67976865-67976879, 67976973-67977036, 67977949-67977951, 67977954-67977963, 67977978-67977992
384CDH3160.9429718875502142249068712498, 68712501, 68713720, 68713823-68713831, 68716217-68716219, 68718566-68718573, 68718615-68718618, 68718674-68718679, 68718683-68718686, 68719148-68719161, 68719201-68719209, 68721470, 68721474-68721476, 68721522-68721526, 68725661-68725670, 68725699-68725717, 68725755, 68725783-68725800, 68725812-68725829, 68729158-68729164
385CDH1160.997734994337496264968771347-68771352
386CIRH1A160.9873847646773426206169170696, 69170710, 69173778, 69173800-69173806, 69177095-69177100, 69177104-69177105, 69177172, 69177176, 69184571, 69184576-69184579, 69187491
387COG8160.89722675367047189183969364791-69364845, 69364860-69364870, 69364975-69364981, 69366739, 69368487-69368488, 69368592-69368619, 69368800-69368802, 69370433, 69373079-69373091, 69373126-69373130, 69373237-69373239, 69373242-69373244, 69373259-69373287, 69373307-69373320, 69373411-69373424
388AARS160.9903680770553828290770301569-70301580, 70301693, 70303664-70303666, 70304147-70304158
389HP160.994266994266997122172094376-72094382
390GCSH160.825670498084299152281116482-81116507, 81116536-81116538, 81116545, 81129738-81129744, 81129762-81129778, 81129847-81129883
391GAN160.996098104793767179481348734-81348740
392MLYCD160.74561403508772377148283932753-83932770, 83932793-83932825, 83932833-83932859, 83932870-83932921, 83932970-83933010, 83933024-83933028, 83933038-83933050, 83933060, 83933083-83933136, 83933144, 83933192-83933209, 83933229-83933242, 83941807-83941814, 83941872-83941881, 83945890-83945895, 83945903-83945909, 83948761-83948794, 83948830-83948858, 83948912-83948915, 83948929, 83948945
393LRRC50160.9917355371900818217884179079-84179084, 84182696, 84199510-84199513, 84203811, 84209849-84209854
394FOXF1160.971929824561432114086544207-86544238
395FOXC2160.9555112881806167150686601428, 86601433-86601436, 86601440-86601446, 86601514-86601520, 86601637-86601645, 86601653-86601662, 86601677, 86601688-86601696, 86601967-86601985
396JPH3160.71028037383178651224787636872-87636885, 87636908-87636924, 87637129-87637134, 87678249, 87678257-87678258, 87717801-87717808, 87717823, 87717870, 87723273-87723279, 87723292-87723413, 87723419-87723478, 87723492-87723598, 87723605-87723652, 87723679-87723741, 87723749-87723792, 87723806-87723831, 87723834-87723838, 87723868-87723891, 87723909-87723918, 87723958-87723974, 87723984-87724026, 87724100-87724124
397CYBA160.08163265306122454058888709761-88709979, 88712524-88712537, 88712547-88712605, 88713163-88713192, 88713201-88713246, 88713509-88713574, 88713582-88713583, 88714453-88714468, 88714491-88714520, 88717364-88717421
398APRT160.2725598526703539554388876106-88876140, 88876163-88876231, 88876247-88876248, 88876478, 88876489-88876556, 88876831-88876869, 88876904-88876964, 88877958-88877982, 88878017-88878018, 88878047, 88878053-88878064, 88878228-88878307
399GALNS160.64563416188655556156988880847, 88880884-88880889, 88880897, 88880912-88880933, 88884415-88884512, 88884529-88884531, 88888997-88889040, 88889046-88889113, 88891204-88891207, 88891210-88891216, 88891232, 88891251-88891277, 88893110-88893112, 88893130, 88893138-88893165, 88893182-88893236, 88898406-88898407, 88901631, 88902138, 88902250, 88902651, 88902659, 88907406-88907426, 88907460, 88908315-88908333, 88909117, 88909121-88909125, 88909128, 88909171-88909200, 88909223-88909237, 88923166-88923205, 88923227-88923251, 88923255, 88923265-88923285
400SPG7160.92420435510888181238889574905-89574924, 89574981-89574989, 89574993-89575008, 89576945-89576951, 89579356-89579360, 89579400-89579409, 89598312, 89598396-89598404, 89614422-89614434, 89619391-89619394, 89619486-89619497, 89620202-89620204, 89620894-89620905, 89620908-89620910, 89623327-89623332, 89623384-89623386, 89623432-89623448, 89623471-89623501
401FANCA160.90865384615385399436889805009-89805011, 89805093-89805116, 89805342, 89805345, 89805549-89805562, 89805578-89805609, 89805633-89805635, 89805639-89805658, 89805661, 89806402-89806437, 89815152, 89831463, 89831467-89831468, 89836614-89836618, 89836991, 89837016-89837042, 89838145, 89839753-89839755, 89839758-89839760, 89839766-89839770, 89842160-89842211, 89846311, 89857815-89857824, 89862314-89862328, 89865596-89865617, 89877157, 89877359-89877363, 89880928-89880957, 89882945-89883023
402TUBB3160.44345898004435753135389989810-89989866, 89998979-89999018, 89999037-89999039, 89999057, 89999080-89999087, 89999876-89999877, 89999883-89999896, 89999901, 89999906, 89999912, 90001143-90001147, 90001209-90001251, 90001273-90001278, 90001320-90001348, 90001374-90001381, 90001426-90001428, 90001433, 90001447-90001448, 90001457, 90001463-90001471, 90001498-90001526, 90001561-90001615, 90001645, 90001668-90001765, 90001784-90001903, 90001911-90001980, 90002034-90002084, 90002112-90002158, 90002166-90002212
403PRPF8170.987728310502288670081554147-1554151, 1554490-1554495, 1554942-1554943, 1557120-1557127, 1557132, 1558674, 1558723-1558745, 1559703-1559709, 1577046-1577052, 1580371-1580381, 1586921-1586922, 1586926, 1587770-1587771, 1587776-1587785
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515SLC5A5190.92494824016563145193217983129-17983136, 17983186-17983211, 17983228-17983254, 17983310-17983313, 17983322, 17984947-17984961, 17984969-17984997, 17985309-17985314, 17986781, 17986792, 17986914, 17988650-17988653, 17991684-17991690, 17992778-17992780, 17992789-17992790, 17994520-17994526, 17994549, 17994557-17994558
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517COMP190.6561125769569782227418893731-18893771, 18893874-18893928, 18893966-18893967, 18893990-18893992, 18895001-18895011, 18895027, 18895040, 18895089, 18895118-18895123, 18896334-18896352, 18896494-18896514, 18896528, 18896531-18896532, 18896541, 18896557-18896583, 18896609, 18896654-18896661, 18896777-18896779, 18896789-18896793, 18897049-18897062, 18897387, 18898312-18898331, 18898352-18898372, 18899026-18899085, 18899108-18899117, 18899122, 18899220-18899223, 18899244, 18899301-18899323, 18899413-18899436, 18899444, 18899447, 18899456-18899499, 18899510-18899551, 18900003-18900076, 18900085-18900089, 18900751-18900761, 18900781-18900817, 18900837, 18900885, 18900888-18900896, 18900904-18900923, 18901371-18901417, 18901659-18901703, 18901727, 18902000-18902006, 18902016-18902050, 18902066-18902078
518SLC7A9190.9897540983606615146433333119-33333133
519CEBPA190.26369545032498793107733792260-33792312, 33792400-33792433, 33792474-33792501, 33792523-33792525, 33792536, 33792547, 33792551-33792560, 33792583-33792634, 33792647-33792692, 33792702-33792809, 33792832-33793079, 33793098-33793115, 33793130-33793320
520SCN1B190.96406443618342980735521736-35521764
521HAMP190.843137254901964025535773486, 35773520-35773522, 35773528-35773534, 35775841-35775851, 35775909, 35775921-35775936, 35775939
522MAG190.81073896863371356188135786312-35786318, 35786351-35786357, 35786519, 35786568-35786581, 35786672, 35786813-35786819, 35790457-35790464, 35790481-35790526, 35790532-35790580, 35790589-35790594, 35790632-35790659, 35790681-35790753, 35791067, 35791074-35791118, 35791140-35791160, 35791197-35791203, 35791260, 35793407-35793418, 35793458-35793469, 35793561, 35802906-35802914
523PRODH2190.9546865301055273161136290968-36291000, 36291006-36291013, 36293886-36293888, 36303308-36303327, 36303349-36303357
524NPHS1190.9932903918411225372636321747-36321767, 36321773, 36322575, 36342699-36342700
525TYROBP190.6843657817109110733936398348-36398377, 36398391-36398401, 36398427-36398448, 36398653-36398664, 36399070-36399101
526SDHAF1190.870689655172414534836486177-36486196, 36486350-36486374
527WDR62190.95778652668416193457236557167-36557172, 36579946-36579954, 36579996-36580006, 36580134-36580140, 36581350-36581354, 36582361-36582367, 36585035, 36592187-36592188, 36593007-36593020, 36594449-36594456, 36594659-36594660, 36594838-36594841, 36594867-36594882, 36595488, 36595501-36595503, 36595507-36595510, 36595542-36595560, 36595712-36595762, 36595815-36595826, 36595860, 36595891, 36595896-36595903, 36595906
528RYR1190.9025600317523314731511738931395-38931420, 38931430-38931432, 38931463, 38931474, 38931491-38931492, 38933018, 38934242, 38934411, 38937123, 38937178-38937205, 38937365, 38937401-38937408, 38939057-38939061, 38939408, 38976653, 38976657-38976661, 38976668-38976669, 38976717-38976718, 38979817-38979823, 38979895-38979897, 38979900-38979901, 38980015-38980021, 38980718-38980727, 38980730, 38980734, 38980868-38980874, 38980889, 38981287-38981314, 38981340-38981348, 38983217-38983238, 38984998-38985017, 38985220, 38985225, 38986855-38986890, 38986927-38986936, 38987077, 38987106-38987154, 38987500-38987507, 38987524-38987561, 38989759-38989773, 38989809-38989818, 38990314-38990320, 38990381-38990396, 38990408-38990439, 38991325, 38991329, 38991474-38991480, 38991555, 38993554-38993557, 38995459-38995460, 38998413-38998442, 39003052-39003088, 39018400-39018404, 39034425, 39037087-39037089, 39037109, 39037116-39037135, 39037156-39037164, 39055599-39055635, 39055648-39055858, 39055864-39056108, 39056142-39056143, 39056155-39056190, 39056196-39056202, 39056210, 39056213-39056215, 39056222-39056326, 39056351, 39061292-39061333, 39062668, 39075583-39075631, 39075637-39075686, 39075692-39075739, 39076578-39076605, 39076641-39076642, 39076731-39076732, 39076754-39076797, 39076824-39076828
529ACTN4190.84173976608187433273639138451, 39138479-39138546, 39196736, 39205191, 39208604-39208615, 39214254-39214265, 39214358-39214362, 39214665-39214671, 39214674, 39214797-39214798, 39214907-39214908, 39214968-39214979, 39215071-39215134, 39215187-39215193, 39216364-39216388, 39216430, 39216472-39216483, 39216510-39216526, 39217628, 39219703-39219733, 39219762-39219794, 39219914-39219925, 39219932-39219962, 39219970-39220009, 39220017-39220051
530DLL3190.9644588045234266185739989854, 39989857, 39993467-39993469, 39993504-39993507, 39993547-39993555, 39994755-39994761, 39994780-39994810, 39994834-39994836, 39994874-39994879, 39998180
531PRX190.94664842681259234438640900180-40900185, 40900855-40900860, 40900865, 40901282-40901310, 40901753-40901772, 40901775, 40902020-40902037, 40902384, 40902388, 40902605-40902606, 40902612-40902627, 40902765, 40903414-40903438, 40903463-40903472, 40903671, 40903674-40903677, 40909649-40909706, 40909727, 40909730-40909732, 40909741-40909769, 40913819
532TGFB1190.84739982949702179117341837060, 41837065-41837067, 41837103-41837105, 41838143, 41838148, 41838152-41838160, 41838169-41838170, 41848092-41848104, 41848107, 41850692, 41850769, 41854200-41854264, 41854270-41854329, 41854344-41854347, 41854353-41854360, 41858912-41858915, 41858918, 41858924
533BCKDHA190.9783258594917829133841916549-41916575, 41928226-41928227
534RPS19190.949771689497722243842364891, 42365253-42365272, 42373245
535ATP1A3190.96601413811854125367842470753-42470757, 42470798-42470806, 42470844-42470851, 42470866, 42470873-42470880, 42470946-42470956, 42470963, 42470982-42471024, 42471120, 42471329-42471364, 42471902, 42480571
536ETHE1190.968627450980392476544012096-44012107, 44012179-44012182, 44012185, 44030784-44030790
537BCAM190.9311075781664130188745312382-45312399, 45312406-45312463, 45314509, 45314574-45314580, 45315431, 45324041-45324079, 45324173-45324178
538APOE190.98951781970651095445411184-45411187, 45411980-45411983, 45412125, 45412128
539BLOC1S3190.970443349753691860945682850, 45682898-45682903, 45682939-45682949
540ERCC2190.9684625492772772228345854966-45854972, 45864889-45864890, 45867012-45867020, 45867081-45867088, 45867143-45867169, 45867252, 45867259, 45867307-45867313, 45867506-45867507, 45868096-45868103
541SIX5190.86981981981982289222046268886-46268888, 46268944-46268996, 46269125-46269131, 46269186-46269211, 46269225-46269244, 46269310-46269314, 46269608-46269610, 46269643, 46269681-46269700, 46269747-46269753, 46269761, 46269769, 46269942-46269956, 46270019-46270021, 46270154-46270167, 46270373-46270389, 46271471-46271498, 46271606-46271610, 46271843-46271856, 46271926-46271965, 46272031-46272033, 46272077, 46272082-46272083
542DMPK190.94126984126984111189046274261-46274280, 46274287-46274289, 46274314, 46274317, 46275901, 46280700-46280712, 46280767, 46280830, 46281769, 46281856-46281862, 46281865, 46281899, 46282716, 46282722-46282729, 46283053-46283056, 46285464-46285496, 46285541, 46285544-46285553, 46285579, 46285590-46285591
543FKRP190.84677419354839228148847258845, 47258991-47259017, 47259069-47259086, 47259110-47259112, 47259115-47259119, 47259124-47259135, 47259222-47259228, 47259253-47259292, 47259365-47259413, 47259441-47259444, 47259483-47259486, 47259489-47259504, 47259511-47259515, 47259616-47259617, 47259627-47259632, 47259660-47259681, 47259712-47259715, 47260168-47260170
544DBP190.5327198364008245797849134094-49134122, 49134138-49134142, 49134167-49134188, 49134239-49134242, 49134262, 49134297, 49136707-49136709, 49136756-49136759, 49136859-49136891, 49138837-49138859, 49138877-49138879, 49138882-49138918, 49138931-49138965, 49138982-49139203, 49139222-49139247, 49140208-49140216
545BCAT2190.9262086513994987117949303030-49303036, 49303088-49303095, 49303260-49303309, 49303332, 49303335-49303336, 49309790, 49309794, 49309883-49309891, 49314257-49314264
546GYS1190.9552845528455399221449494559, 49494588-49494591, 49494607, 49494617-49494623, 49494656-49494667, 49494717-49494740, 49496292-49496301, 49496312-49496351
547MED25190.9144385026738192224450321619-50321627, 50321689-50321698, 50321701-50321702, 50321842-50321864, 50322429-50322434, 50333771-50333782, 50334055-50334070, 50335392-50335414, 50338398-50338434, 50338802, 50338842-50338848, 50338984-50338997, 50339483-50339496, 50339547-50339550, 50339637-50339638, 50340117-50340118, 50340179-50340187, 50340201
548MYH14190.96678121420389203611150747520, 50747523, 50747531, 50752951-50752965, 50752985, 50753029-50753078, 50764732-50764748, 50764774-50764802, 50764814-50764838, 50764856-50764867, 50764880, 50770135-50770144, 50770211-50770230, 50792831, 50792834, 50795571-50795574, 50795578-50795582, 50796530-50796534, 50796574-50796577
549KCNC3190.82321899736148402227450823545-50823593, 50823936, 50826244-50826254, 50826291-50826294, 50826302-50826306, 50826355-50826356, 50826382-50826400, 50826404, 50826429-50826434, 50826451-50826481, 50826542, 50826628-50826636, 50826679-50826702, 50831741, 50831820-50831823, 50831929-50831943, 50831960-50831987, 50831989-50832010, 50832027, 50832099-50832100, 50832103-50832105, 50832110-50832112, 50832144-50832147, 50832152, 50832185-50832339
550KLK4190.986928104575161076551411898-51411899, 51411902, 51412614-51412618, 51412668, 51413994
551ETFB190.916426512968387104151857425-51857465, 51857646-51857665, 51857682-51857707
552NLRP12190.90175768989328313318654299114-54299127, 54299212, 54304481-54304499, 54304511-54304540, 54304597-54304609, 54304636, 54307220, 54307319-54307324, 54308639-54308643, 54312841-54312844, 54312874-54312883, 54312888, 54312916, 54313079-54313095, 54313208-54313209, 54313335-54313355, 54313380-54313439, 54313596-54313611, 54313617, 54313635-54313641, 54313653-54313674, 54313734-54313735, 54313773-54313801, 54313859-54313876, 54313982, 54314038, 54314068-54314074, 54314077, 54314168-54314169
553PRKCG190.9570200573065990209454392921-54392938, 54393190-54393192, 54393195-54393197, 54401729-54401772, 54401846-54401861, 54406338, 54410078-54410082
554PRPF31190.276666666666671085150054621660-54621727, 54621761-54621785, 54621955-54621973, 54621984-54621987, 54625253-54625254, 54625259, 54625261-54625265, 54625302-54625311, 54625321-54625322, 54625876-54625973, 54626850-54626861, 54627136-54627224, 54627255-54627291, 54627878-54627904, 54627907-54627913, 54627924-54627944, 54627958-54627960, 54627971-54627977, 54628012-54628035, 54629903-54629910, 54629932-54629992, 54631448-54631575, 54631680-54631752, 54632432-54632560, 54632647-54632745, 54634738-54634863
555NLRP7190.99807321772646311455452828, 55452839-55452843
556TNNT1190.4562737642585642978955644283-55644291, 55644294-55644296, 55644299, 55644302, 55644318-55644328, 55645255-55645274, 55645282-55645295, 55645434-55645458, 55645486-55645489, 55645501-55645524, 55648473-55648495, 55648510-55648532, 55648547, 55648554, 55648560, 55648567, 55649378-55649380, 55649421-55649442, 55652251-55652328, 55652555, 55652573-55652645, 55652657-55652670, 55653225-55653238, 55653261-55653267, 55656916-55656917, 55657814-55657824, 55658049-55658075, 55658511-55658525
557TNNI3190.5763546798029625860955663239-55663254, 55665403-55665414, 55665447-55665468, 55665486-55665502, 55665549-55665574, 55666109-55666111, 55666116, 55666134-55666173, 55666184-55666191, 55666194-55666198, 55667569-55667584, 55667597-55667620, 55667637-55667641, 55667646-55667667, 55667669-55667700, 55668440, 55668450-55668456, 55668459
558AURKC190.99677419354839393057746254, 57746259, 57746263
559TPO20.8411848679514644528021459864-1459870, 1459961-1459967, 1480868, 1481012, 1481212, 1481215-1481234, 1488434, 1491617-1491656, 1491673-1491694, 1497583, 1497594-1497596, 1497642-1497646, 1497711, 1497762-1497768, 1497803, 1499761-1499789, 1499844, 1499885, 1499899, 1499905-1499931, 1500517, 1520655-1520754, 1544366-1544447, 1544465-1544495, 1546193-1546246
560RPS720.96581196581197205853623218-3623224, 3623456-3623468
561KLF1120.9694606887589347153910183844-10183885, 10186493, 10188198, 10188528-10188529, 10188629
562APOB20.99342681858019901369221224810-21224819, 21224871, 21225009-21225016, 21225126, 21225312, 21225317, 21226038-21226044, 21226131, 21246531, 21265269-21265271, 21266748-21266803
563POMC20.982587064676621480425384421-25384429, 25384433-25384434, 25384466, 25384477-25384478
564HADHA20.9860383944153632229226414415-26414441, 26437397, 26437427-26437430
565HADHB20.9761403508771934142526477130-26477131, 26502172-26502183, 26502975-26502983, 26508377-26508387
566OTOF20.73740407073741574599426684670-26684676, 26684774-26684775, 26684996-26685002, 26685044-26685049, 26686414, 26686957-26686958, 26687886, 26689606-26689609, 26689617-26689625, 26689637, 26691294-26691300, 26693467-26693468, 26693479, 26693516-26693586, 26695407, 26695410-26695415, 26695425-26695476, 26696140, 26696274-26696287, 26696325, 26696358, 26696362, 26696389, 26696405-26696407, 26696859-26696894, 26696900-26696943, 26696958-26696968, 26696976-26696978, 26697381-26697460, 26697466-26697494, 26697537-26697542, 26698278-26698284, 26698346-26698355, 26698360-26698361, 26698783, 26698790, 26698802-26698805, 26698818-26698855, 26698865-26698906, 26698996-26699002, 26699026-26699094, 26699103, 26699107-26699121, 26699124, 26699133, 26699150-26699180, 26699759-26699911, 26700044-26700093, 26700116, 26700130-26700156, 26700285-26700288, 26700293, 26700352-26700369, 26700520-26700552, 26700577-26700597, 26700607-26700617, 26702137-26702160, 26702175-26702206, 26702214-26702248, 26702358-26702380, 26702427-26702495, 26702506, 26703071-26703092, 26703158, 26703683, 26703688-26703698, 26703704, 26703739-26703741, 26703748-26703755, 26703758, 26703776, 26703811-26703827, 26703839, 26703846-26703847, 26703862, 26705282-26705296, 26705305-26705401, 26705423-26705424, 26705433-26705460, 26706339-26706344, 26706389-26706391, 26706398-26706399, 26706424-26706425, 26706428-26706432, 26706446, 26707342-26707361, 26707417-26707432, 26707446-26707478, 26707492, 26707498, 26712088-26712107, 26712127-26712163, 26712552-26712570, 26712588, 26712595-26712605, 26739373-26739377, 26739430, 26741887-26741902, 26741942-26741953, 26750760-26750765
567EIF2B420.9914215686274514163227592297-27592310
568C2orf7120.998189811223177386729293778-29293784
569ALK20.999588731235862486329462679, 30143488
570XDH20.9855072463768158400231572555, 31587074-31587100, 31588916-31588922, 31595166-31595182, 31598415-31598420
571SPAST20.91788222582388152185132289017-32289040, 32289083-32289095, 32289106-32289126, 32289139-32289174, 32289182-32289188, 32289197, 32289215, 32289309, 32341199-32341229, 32372289-32372294, 32379443-32379453
572CYP1B120.83394607843137271163238297920, 38297924, 38298211, 38298217, 38298443, 38301511, 38301572-38301582, 38301922, 38301934-38301953, 38302027-38302068, 38302110-38302144, 38302171, 38302184-38302186, 38302192-38302241, 38302256, 38302331-38302346, 38302365-38302390, 38302416-38302470, 38302474-38302476, 38302480
573SOS120.95852073963018166400239214724, 39216448, 39216451-39216452, 39224498-39224504, 39224557-39224566, 39233608-39233619, 39241028, 39241912, 39249711-39249757, 39249817, 39250017-39250023, 39250228-39250247, 39251153, 39251217-39251219, 39251230-39251231, 39251234, 39281755, 39281808, 39281869, 39281930-39281962, 39283883, 39294826-39294835, 39347541-39347542
574ABCG520.9897750511247420195644051464-44051469, 44058993-44059006
575ABCG820.94856577645895104202244099116-44099136, 44099189, 44099192, 44099198-44099199, 44099233-44099237, 44099242-44099243, 44099246-44099248, 44099362-44099379, 44099421-44099435, 44100930, 44101094-44101097, 44102313-44102319, 44102382-44102392, 44102476-44102488
576LRPPRC20.9928315412186430418544204159-44204166, 44206965-44206967, 44209390-44209391, 44209396-44209397, 44209464-44209465, 44209525-44209537
577MCFD220.99773242630385144147134972
578EPCAM20.968253968253973094547596676-47596682, 47601036-47601045, 47601109, 47601126, 47606175-47606185
579MSH220.9764705882352966280547630445-47630489, 47639609-47639624, 47639641-47639643, 47698186, 47707965
580MSH620.95273083517022193408348010405-48010445, 48010453-48010570, 48010581-48010592, 48010611-48010632
581LHCGR20.9838095238095234210048982755-48982788
582EFEMP120.991902834008112148256103800, 56144944-56144948, 56144951-56144956
583PEX1320.99834983498352121261258653, 61258817
584ATP6V1B120.9922178988326812154271163085-71163086, 71188732-71188740, 71191971
585MCEE20.9698681732581653171351375-71351382, 71351517, 71351589-71351595
586DYSF20.9625786163522238636071738952-71738955, 71740894-71740897, 71797782-71797789, 71801328-71801330, 71801460, 71825700-71825729, 71825783-71825791, 71825796, 71825802-71825805, 71825827, 71825862-71825872, 71827847-71827851, 71827883-71827885, 71827888-71827891, 71827907, 71827946-71827951, 71828633-71828644, 71828658, 71829907, 71829917-71829935, 71838428-71838437, 71838441, 71838680-71838686, 71839771-71839789, 71839817-71839822, 71839856-71839889, 71839930-71839931, 71840464-71840471, 71840511-71840513, 71847677-71847685, 71847720-71847730
587SPR20.984732824427481278673114691-73114692, 73114815-73114820, 73114850-73114853
588ALMS120.99424184261036721250473613032-73613034, 73613061-73613071, 73613076-73613079, 73675637-73675643, 73676455, 73676849, 73679569-73679605, 73679866, 73784468-73784473, 73828342
589SLC4A520.999121265377863341474474432-74474434
590MOGS20.90930787589499228251474688407-74688411, 74688489-74688492, 74688526-74688533, 74688646, 74688664-74688670, 74688785-74688792, 74688810-74688811, 74688816-74688823, 74688828-74688833, 74689002-74689011, 74689053, 74689082-74689084, 74689103-74689104, 74689338-74689345, 74689397-74689401, 74689464-74689467, 74689474, 74689605-74689613, 74689689-74689698, 74689776-74689805, 74689852-74689860, 74689864-74689874, 74689950-74689951, 74689991-74689997, 74690322-74690323, 74690328, 74690332, 74692258-74692285, 74692330-74692364
591SUCLG120.999039385206531104184686337
592GGCX20.9824330259112940227785781400-85781425, 85782711-85782713, 85786051-85786061
593SFTPB20.99563699825485114685890531, 85890870, 85894278, 85895260-85895261
594EIF2AK320.9838854073410954335188870552-88870559, 88874769-88874770, 88874776-88874777, 88879154-88879157, 88887561-88887565, 88926726-88926758
595RPIA20.99893162393162193688999566
596TMEM12720.861924686192479971796919618-96919622, 96919812-96919821, 96920656-96920664, 96930882-96930883, 96930907-96930921, 96930926, 96930932-96930933, 96930936-96930937, 96930947-96930949, 96930972, 96930978-96931003, 96931023-96931025, 96931032, 96931038-96931039, 96931047, 96931062, 96931067-96931075, 96931099-96931104
597SNRNP20020.99937607237564641196949288, 96950124, 96950149, 96951078
598ZAP7020.9897849462365619186098340620-98340626, 98340749-98340756, 98349376-98349379
599CNGA320.999040767386092208599012778-99012779
600RANBP220.900051679586569679675109345590-109345601, 109347251, 109352074, 109352139-109352145, 109352185-109352209, 109352560-109352579, 109357050-109357056, 109357088-109357126, 109363172-109363216, 109363251-109363254, 109365376-109365379, 109365452-109365475, 109367720-109367743, 109367751-109367782, 109367844, 109367868-109367901, 109368082-109368114, 109368156, 109368366, 109368384, 109368419-109368450, 109369475, 109369542-109369584, 109369615, 109369882-109369914, 109369945, 109369949, 109369953, 109370292-109370327, 109371374-109371432, 109371495-109371512, 109371632-109371633, 109371656-109371689, 109374952, 109378618, 109381265, 109382287-109382321, 109382489, 109382634-109382642, 109382700-109382729, 109382928-109382960, 109382990-109382992, 109383003-109383004, 109383051-109383058, 109383075-109383113, 109383142-109383148, 109383203-109383225, 109383252-109383301, 109383334-109383360, 109383522-109383544, 109383672-109383679, 109384141-109384170, 109384542-109384567, 109384664, 109384803, 109384809, 109384820, 109388309, 109397725-109397730, 109398787-109398788, 109399213-109399228, 109400201, 109400323-109400324
601MERTK20.97766666666667673000112656314, 112656318, 112656325-112656331, 112686988, 112740472, 112754999-112755004, 112779115-112779124, 112785928-112785929, 112786026-112786030, 112786034, 112786190, 112786193-112786199, 112786244, 112786277-112786287, 112786415-112786426
602PAX820.9963045084996351353113992971-113992974, 113992992
603GLI220.920184835118673804761121708824, 121708849-121708872, 121708940-121708971, 121708992-121709018, 121728107, 121728142-121728182, 121729528-121729542, 121729602, 121742288-121742292, 121745975-121745986, 121746148-121746177, 121746213-121746217, 121746227, 121746382-121746386, 121746498-121746523, 121746547-121746556, 121746559, 121746589-121746625, 121746799-121746803, 121746956, 121747056-121747063, 121747161-121747163, 121747265-121747267, 121747343-121747352, 121747356-121747357, 121747470-121747517, 121747657-121747659, 121747663-121747664, 121747671, 121747697-121747702, 121747833, 121747969-121747973, 121748037-121748044
604BIN120.96576879910213611782127806129-127806138, 127811556-127811562, 127815051-127815091, 127827623, 127827636-127827637
605PROC20.867965367965371831386128177519-128177539, 128178940-128178950, 128178986-128178992, 128180493-128180511, 128180663-128180707, 128180850-128180854, 128180856-128180860, 128180906-128180921, 128184681-128184689, 128185933-128185969, 128186270-128186277
606CFC120.80059523809524134672131279069-131279080, 131279530-131279539, 131279622-131279625, 131279675, 131279681, 131280371-131280389, 131280409, 131280430-131280447, 131280742-131280750, 131280780-131280782, 131280798-131280799, 131280805-131280808, 131280835-131280846, 131285332, 131285391-131285427
607RAB3GAP120.98200950441276532946135848685-135848700, 135878414-135878415, 135878428-135878436, 135888122-135888123, 135888198-135888201, 135888215-135888216, 135888257-135888271, 135890513, 135893363, 135893468
608LCT20.9989626556016665784136558251, 136558310, 136564698, 136564707-136564709
609MCM620.9995944849959412466136616951
610MMADHC20.998877665544331891150432983
611NEB20.997646941023334719974152432724-152432763, 152432824-152432827, 152499718, 152500553-152500554
612CACNB420.9955214331413971563152695716-152695719, 152695773, 152698517-152698518
613SCN2A20.99767364572948146018166201218, 166223867, 166237231, 166237686-166237696
614GALNT320.9931650893796131902166621434, 166626696, 166626903-166626910, 166627178-166627180
615SCN1A20.99533099883275285997166908229-166908233, 166908288-166908297, 166908303-166908315
616SCN9A20.99460734748905325934167060532-167060533, 167060662-167060668, 167099090-167099096, 167108282-167108286, 167134667-167134676, 167163488
617ABCB1120.9992435703479633966169783756, 169853162, 169873305
618SLC25A1220.9990181639666222037172690505, 172725301
619CHRNA120.98689956331878181374175618245-175618259, 175618372, 175618376, 175624232
620CHN120.98333333333333231380175742609-175742617, 175742629, 175869622-175869634
621HOXD1320.992248062015581032176957968-176957974, 176958040
622AGPS20.95245321193728941977178257518-178257538, 178257582-178257618, 178257753-178257755, 178257759-178257769, 178285026-178285035, 178346809-178346820
623DFNB5920.97355996222852281059179318300-179318306, 179318321, 179319079-179319091, 179325166, 179325170-179325173, 179326000-179326001
624TTN20.99365573378023636100248179392347-179392351, 179397521, 179398740, 179401201, 179403829, 179404664, 179404682, 179406085, 179407237, 179407875-179407876, 179412705-179412713, 179412749-179412751, 179412756, 179413718, 179414713-179414740, 179414781, 179415808-179415819, 179416539, 179417726, 179417731-179417746, 179417924, 179418388, 179418495-179418515, 179418734-179418738, 179419755, 179421681, 179422157, 179422384, 179422406, 179422475, 179425463, 179425519, 179426170, 179426173, 179427063-179427065, 179428225-179428227, 179428232-179428233, 179428511, 179428636-179428664, 179429400-179429415, 179429783, 179430479, 179430582, 179430878-179430900, 179431178-179431183, 179431260, 179431277, 179431782-179431795, 179432019, 179432131-179432138, 179432684, 179432725-179432726, 179432962, 179433026, 179433054, 179433449, 179433576, 179433604-179433605, 179433797, 179433802-179433803, 179433807, 179433892-179433912, 179433944, 179433955-179433964, 179434064-179434065, 179434254, 179434344, 179434412, 179434474-179434479, 179434601, 179434742, 179435025, 179435078, 179435796, 179435930-179435932, 179436335, 179436808, 179436817-179436819, 179436891, 179437073, 179437100, 179437201, 179437315, 179437364-179437369, 179437663, 179437844, 179437989-179438013, 179438020, 179438144-179438145, 179438250-179438266, 179438279, 179438592, 179439333, 179439342-179439347, 179439452, 179439701, 179439709, 179441517, 179441674-179441675, 179442038, 179442330, 179442385-179442391, 179443395, 179443536, 179443796-179443806, 179446703-179446706, 179447077, 179448450, 179451916-179451921, 179451930, 179452109, 179454022-179454024, 179455128, 179455911, 179456505, 179456511, 179456514-179456518, 179456907, 179456913-179456920, 179457162, 179457180, 179457900, 179458476, 179458484, 179458803, 179460284, 179463953, 179477138, 179477674, 179479249, 179479252-179479255, 179479263, 179484984, 179485195, 179485308-179485315, 179485506, 179486603-179486604, 179486623-179486625, 179489378, 179494067, 179498281, 179499183-179499188, 179499935, 179500749-179500756, 179501215-179501216, 179510661-179510666, 179514896-179514905, 179515493, 179542496-179542564, 179552942, 179583482, 179598432, 179633479-179633498, 179634490-179634494, 179642265-179642268, 179644018-179644031, 179644035, 179648450-179648453, 179648458, 179648462-179648466, 179648866, 179650827, 179656831, 179659684
625CERKL20.866791744840532131599182468566-182468608, 182468623-182468727, 182468733-182468797
626COL3A120.98682117700523584401189850417-189850444, 189850491-189850492, 189851808, 189872611-189872629, 189875484, 189876424-189876430
627SLC40A120.9970862470862551716190428422-190428426
628PMS120.99106823865666252799190670445-190670454, 190728730-190728743, 190732546
629MSTN20.999113475177311128190922055
630STAT120.9973368841544662253191859789-191859790, 191859843, 191859846, 191859859, 191859864
631HSPD120.937862950058071071722198351835-198351863, 198351869-198351882, 198352682-198352702, 198352739-198352752, 198353172, 198353175-198353182, 198360093-198360099, 198361890-198361898, 198361971, 198361990, 198363456-198363457
632CASP1020.998087954110931569202050770-202050772
633CASP820.98330241187384271617202149629-202149642, 202149659, 202149668-202149679
634BMPR220.960218158485721243117203332294-203332296, 203332349, 203332360, 203378475-203378478, 203378531-203378537, 203379624, 203384815-203384831, 203384836, 203384888-203384901, 203420036-203420054, 203420756-203420776, 203420808, 203420811, 203421163-203421175, 203421212-203421227, 203424656-203424659
635NDUFS120.99633699633782184206992579, 206992586, 207018343-207018345, 207018400-207018402
636FASTKD220.99390529770277132133207631895-207631907
637ACADL20.996906419180241293211085385-211085388
638CPS120.9997779258272314503211465393
639ABCA1220.99756034925526197788215854164-215854182
640PNKD20.92400690846287881158219204597, 219204770-219204784, 219204790, 219205451-219205459, 219205489-219205496, 219205503-219205504, 219206257, 219206345, 219206810-219206817, 219209604-219209645
641BCS1L20.9976190476190531260219525932, 219526182, 219527323
642CYP27A120.98370927318296261596219646915-219646916, 219677744-219677753, 219679664, 219679723, 219679737-219679748
643WNT10A20.94896331738437641254219745801-219745825, 219757540-219757571, 219757795-219757799, 219757882-219757883
644DES20.96107572540694551413220283214-220283217, 220283264-220283281, 220283571-220283586, 220283630-220283635, 220283700-220283701, 220283706-220283714
645OBSL120.9840098400984915691220416864-220416898, 220432059, 220435672-220435694, 220435733-220435759, 220435900, 220435904, 220435920, 220435950, 220435954
646COL4A420.99684044233807165064227920681-227920690, 227968689-227968691, 227984626-227984628
647SLC19A320.96378269617706541491228552209-228552211, 228553013-228553023, 228563482-228563509, 228563683-228563684, 228563687, 228563972-228563978, 228564260, 228564264
648CHRND20.98841698841699181554233390937, 233390941-233390943, 233390957, 233390963, 233398643-233398654
649CHRNG20.999356499356511554233409239
650COL6A320.9994755611495759534238234319-238234323
651AGXT20.764206955046652781179241808283-241808333, 241808355-241808390, 241808398-241808418, 241808608-241808638, 241808659-241808663, 241808717-241808731, 241808778-241808779, 241810067-241810125, 241810766-241810769, 241810784, 241810792-241810800, 241810839, 241810850-241810864, 241815373-241815380, 241816955-241816967, 241817012-241817013, 241817454-241817458
652D2HGDH20.732439335887614191566242674646, 242674778-242674788, 242680452, 242680468, 242680492, 242689572-242689624, 242689646-242689647, 242689671-242689693, 242689705-242689709, 242690675, 242690770, 242690777, 242690779-242690781, 242695264-242695269, 242695298-242695339, 242695357-242695380, 242695388, 242695410-242695421, 242707125-242707129, 242707145-242707178, 242707187-242707209, 242707217-242707384
653AVP200.644444444444441764953063329-3063359, 3063375-3063409, 3063434, 3063437-3063439, 3063623-3063657, 3063668-3063699, 3063716-3063754
654PANK2200.9994162288383117133891444
655PROKR2200.991319444444441011525283201-5283210
656MKKS200.998832457676592171310386103-10386104
657JAG1200.9969920700027311365710621576, 10626652, 10633216-10633218, 10653388-10653393
658C20orf7200.9816955684007719103813765864-13765871, 13765922-13765932
659SNTA1200.8030303030303299151832000132-32000133, 32000166, 32000202, 32000214-32000232, 32000381-32000438, 32000457, 32000542, 32000564-32000565, 32000569-32000572, 32000581, 32000586-32000587, 32005561, 32005566-32005577, 32031162-32031204, 32031216-32031266, 32031319-32031343, 32031352-32031426
660GDF5200.993359893758310150634025091-34025099, 34025277
661SAMHD1200.9760765550239245188135526849-35526891, 35545392, 35545398
662HNF4A200.995789473684216142543052720-43052722, 43052773-43052775
663ADA200.9441391941391961109243252897, 43252922-43252942, 43255108-43255117, 43255153-43255156, 43257768-43257792
664CTSA200.9879759519038118149744520238-44520240, 44520577-44520578, 44523519-44523521, 44525634-44525635, 44526371-44526378
665CD40200.99880095923261183444756786
666SALL4200.9901960784313731316250400983, 50401124-50401127, 50406843-50406847, 50407777-50407785, 50408215-50408216, 50408345-50408354
667PCK1200.996254681647947186956137823, 56138156-56138161
668VAPB200.968579234972682373256993346-56993350, 56993365-56993367, 56993403-56993409, 57014068-57014075
669STX16200.99897750511247197857245631
670GNAS200.93902439024394573857415171-57415193, 57415463, 57415472-57415492
671GNAS200.91393705844573268311457428461-57428477, 57428683-57428688, 57428770, 57428955-57428979, 57429062-57429071, 57429082-57429091, 57429098, 57429112-57429120, 57429257-57429269, 57429318, 57429433-57429460, 57429491-57429503, 57429587-57429621, 57429631-57429683, 57429741-57429759, 57429916, 57429968-57429974, 57430077-57430079, 57430155, 57430252, 57430326-57430332, 57430372-57430378
672EDN3200.99860529986053171757876471
673COL9A3200.63892944038929742205561448417-61448494, 61448927-61448929, 61448942-61448987, 61449875-61449905, 61450576-61450598, 61450644-61450645, 61451281-61451304, 61452533-61452551, 61452859-61452863, 61453109-61453123, 61453135-61453162, 61453463-61453479, 61453488-61453516, 61453943-61453949, 61453971, 61453974-61453984, 61455835-61455840, 61455842-61455853, 61456320-61456373, 61457169-61457203, 61457556-61457591, 61458135-61458157, 61458165-61458166, 61458593, 61458613-61458625, 61459316-61459323, 61460319-61460321, 61460980-61461033, 61461118-61461127, 61461719, 61461723, 61461726-61461760, 61461869-61461870, 61461888, 61461898-61461923, 61463524-61463530, 61467539-61467540, 61467617-61467624, 61467663-61467666, 61467830-61467850, 61468439-61468445, 61468495, 61468500, 61468534-61468545, 61468561-61468575, 61472054, 61472077
674CHRNA4200.0122080679405521861188461978090-61978215, 61981005-61981958, 61981964-61982047, 61982054-61982278, 61982291-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
675KCNQ2200.288659793814431863261962037997-62038077, 62038100-62038130, 62038141-62038170, 62038213-62038428, 62038444-62038485, 62038510-62038548, 62038552, 62038555, 62038561-62038699, 62038718-62038728, 62039766-62039849, 62039857-62039889, 62044818-62044840, 62044850-62044890, 62044928, 62045452-62045457, 62045519, 62045530-62045531, 62045536, 62046267, 62046274-62046277, 62046289-62046291, 62046307-62046330, 62046346-62046348, 62046385, 62046413, 62046416-62046419, 62046422, 62046479, 62059728-62059788, 62062693, 62065162-62065164, 62065244, 62065247, 62069994, 62070011-62070073, 62070951-62071061, 62073759-62073884, 62076012-62076187, 62076603-62076717, 62078100-62078105, 62078115-62078190, 62103521-62103816
676SOX18200.0978354978354981042115562679519-62679568, 62679576-62679643, 62679662, 62679667-62679678, 62679714, 62679737-62679852, 62679862-62679997, 62680003-62680037, 62680051-62680315, 62680512-62680869
677APP210.999567661046261231327542909
678BACH1210.9954771596562610221130715043-30715052
679IFNGR2210.85897435897436143101434775850-34775922, 34793841-34793843, 34793897-34793941, 34799231, 34799292, 34799299-34799312, 34799317-34799319, 34804606, 34805164, 34809172
680RCAN1210.96047430830043075935987198-35987203, 35987252-35987275
681CLDN14210.923611111111115572037833478-37833487, 37833521-37833545, 37833563, 37833579, 37833812-37833826, 37833975-37833977
682TMPRSS3210.9575091575091658136543795846-43795862, 43795871, 43795889-43795895, 43796737, 43803156-43803163, 43803167, 43805525-43805536, 43805539-43805548, 43810140
683CBS210.8786231884058201165644474088-44474093, 44476921, 44476925-44476942, 44476996-44476997, 44478984-44478985, 44478990-44478998, 44479336-44479361, 44479369-44479376, 44480609-44480620, 44480653-44480656, 44482427-44482438, 44483093-44483099, 44485604-44485613, 44485619, 44485805, 44488648-44488673, 44488689-44488700, 44492150-44492162, 44492203-44492233
684CSTB210.831649831649835029745194122-45194137, 45194585-45194590, 45194617, 45194623, 45196085, 45196089-45196091, 45196095-45196113, 45196125-45196127
685AIRE210.19902319902321312163845705890-45706020, 45706440-45706561, 45706579-45706614, 45706861-45706862, 45706867-45706870, 45706878-45706887, 45706889-45706955, 45706967-45706973, 45706977-45706985, 45706991-45707003, 45707006, 45707416-45707443, 45707461-45707474, 45708228-45708243, 45708263-45708265, 45708301-45708341, 45709557-45709611, 45709620-45709664, 45709674-45709683, 45709871-45709914, 45709937-45709951, 45710978-45711024, 45711030-45711045, 45711066-45711072, 45711081-45711090, 45712192-45712199, 45712201, 45712206-45712214, 45712243-45712284, 45712876-45713058, 45713672-45713686, 45713698-45713789, 45714284-45714386, 45716266-45716328, 45717539-45717553, 45717559-45717565, 45717568-45717586, 45717592-45717593
686ITGB2210.91818181818182189231046306737-46306751, 46308609-46308620, 46308653-46308687, 46308717-46308719, 46308794-46308797, 46308804-46308806, 46309193-46309198, 46309202, 46309205-46309206, 46309919-46309932, 46309936-46309941, 46310107-46310116, 46311750-46311756, 46311765-46311802, 46311893-46311894, 46313368-46313385, 46320332-46320336, 46320348-46320352, 46330208, 46330674-46330675
687COL18A1210.30313390313393669526546875466-46875494, 46875500, 46875593-46875633, 46875666-46875703, 46875794-46875843, 46875889-46875894, 46875899-46875902, 46875907-46875909, 46875942-46875948, 46876025-46876059, 46876076-46876120, 46876173, 46876195-46876216, 46876263-46876349, 46876355-46876392, 46876408-46876413, 46876459-46876476, 46876488, 46876498-46876528, 46876543-46876706, 46876727-46876771, 46876791, 46876794, 46888156-46888220, 46888223-46888288, 46888305-46888344, 46888347-46888348, 46888373-46888395, 46888418-46888426, 46888437-46888438, 46888469-46888484, 46888509-46888612, 46888639-46888672, 46888681-46888700, 46893809-46893813, 46895390-46895414, 46896294-46896300, 46896316-46896377, 46896394, 46897366-46897401, 46897705-46897741, 46897768-46897798, 46897837, 46897840, 46897865, 46897869, 46899816-46899818, 46899827-46899878, 46899984-46899988, 46900007-46900012, 46900038-46900052, 46900407-46900434, 46900623-46900630, 46900660-46900730, 46900755, 46900761-46900762, 46901879, 46906775-46906820, 46906829-46906906, 46907361-46907372, 46907389, 46907401-46907415, 46908332-46908340, 46908347, 46908355-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914476, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929270, 46929283-46929415, 46929426-46929515, 46929978-46930081, 46930100-46930175, 46931025-46931140, 46932102-46932312
688COL6A1210.482669258179461597308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406494, 47406505-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409051, 47409522-47409566, 47409666-47409675, 47410172-47410198, 47410292-47410336, 47410687-47410713, 47410740, 47410931, 47410940-47410955, 47411924-47411952, 47411968-47411986, 47412078-47412115, 47412663, 47412675, 47414087, 47414094-47414096, 47414103-47414108, 47414113, 47417355-47417358, 47417362, 47417367, 47417393-47417397, 47417617-47417657, 47418036-47418085, 47418811-47418812, 47418829-47418849, 47418852, 47418860, 47419096-47419131, 47419571-47419606, 47420258-47420281, 47421181-47421224, 47421943-47421972, 47422506, 47422529-47422570, 47422599, 47422602, 47423473-47423484, 47423507, 47423510-47423542, 47423551, 47423566, 47423590, 47423617-47423666, 47423807-47423840, 47423887-47423889
689COL6A2210.138888888888892635306047531391-47531412, 47531422-47531463, 47531472-47531505, 47531893-47531940, 47531948-47532081, 47532090-47532094, 47532121-47532142, 47532177-47532209, 47532242-47532259, 47532271-47532317, 47532330-47532333, 47532344-47532350, 47532353-47532383, 47532412, 47532415-47532416, 47532429, 47532466-47532491, 47532718-47532724, 47532727, 47532734-47532735, 47533922-47533927, 47533933-47533953, 47535794-47535795, 47535798-47535832, 47535923, 47535938-47535941, 47535944-47535967, 47536291-47536317, 47536565-47536591, 47536684-47536728, 47537314-47537325, 47537340-47537367, 47537788-47537850, 47538528-47538536, 47538554-47538590, 47538944-47538997, 47539000, 47539004, 47539023-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542445, 47542789-47542851, 47544565-47544621, 47544799-47544834, 47545180-47545225, 47545379-47545391, 47545415-47545488, 47545504-47545531, 47545699-47546151, 47546417-47546424, 47546432-47546455, 47551868-47552466
690COL6A221034234247552183-47552524
691FTCD2101626162647556901-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
692PCNT210.948856258116075121001147744143-47744147, 47746469, 47766817-47766844, 47766858-47766906, 47769654-47769657, 47771346-47771347, 47771436-47771438, 47775449-47775452, 47775473, 47783538-47783573, 47783658, 47783668, 47783698-47783707, 47783765, 47786515-47786520, 47786588-47786628, 47786677-47786701, 47786712-47786734, 47786794-47786796, 47786817-47786819, 47786862, 47786866, 47786871, 47786874-47786875, 47787016-47787017, 47801675-47801699, 47801716-47801720, 47805894-47805898, 47809305, 47809330, 47819682, 47831105, 47831456, 47832830-47832837, 47836431-47836437, 47836599-47836629, 47836653, 47836659-47836698, 47836712-47836717, 47836722-47836731, 47836752-47836753, 47842013, 47847602, 47847688-47847709, 47848309-47848327, 47848352-47848386, 47848493, 47848501, 47850091, 47850128, 47850131-47850146, 47850505, 47850525-47850526, 47851594-47851599, 47856053, 47858226, 47863826-47863827, 47863838-47863839
693PRODH220.64226289517471645180318900724, 18900750, 18900756-18900784, 18900802, 18900809, 18900951-18900952, 18900977-18900981, 18900989, 18900995, 18901008, 18904414, 18904421-18904433, 18904475-18904501, 18905829-18905830, 18905859, 18905867-18905871, 18905875-18905879, 18906985-18906995, 18907042, 18907075, 18907287, 18908855-18908905, 18908914, 18908918-18908919, 18909851, 18909858, 18909869, 18909879-18909881, 18910330-18910346, 18910363, 18910368, 18910396-18910424, 18910630-18910636, 18910639, 18910647-18910672, 18910685-18910692, 18912594-18912613, 18912619, 18912678-18912686, 18912707-18912713, 18913201-18913233, 18918504-18918519, 18918523, 18918547-18918581, 18918601-18918623, 18918644, 18918648-18918649, 18918660-18918703, 18918709-18918711, 18923528-18923578, 18923585-18923588, 18923595, 18923600-18923606, 18923624-18923635, 18923645, 18923649-18923698, 18923702-18923720, 18923726-18923766, 18923798-18923800
694GP1BB220.0161030595813261162119711093-19711102, 19711377-19711940, 19711951-19711987
695TBX1220.64986559139785521148819747168, 19748428-19748570, 19748576-19748623, 19748652-19748703, 19753300-19753314, 19753425-19753472, 19753912-19753919, 19753932-19753976, 19753988-19754015, 19754032-19754033, 19754071-19754087, 19754187-19754230, 19754259-19754261, 19754270-19754304, 19754334-19754365
696SMARCB1220.85492227979275168115824129357-24129359, 24129373, 24129419, 24129435, 24133974, 24133980, 24134015-24134030, 24135746-24135748, 24145501-24145526, 24145554-24145558, 24167464-24167465, 24167582-24167584, 24175759-24175787, 24175794-24175802, 24175825-24175863, 24176340-24176367
697CHEK2220.87450312322544221176129083895-29083917, 29083932-29083965, 29085134-29085171, 29090025-29090069, 29091173-29091203, 29115437-29115469, 29120965-29120971, 29121042-29121047, 29121295, 29126408, 29126449, 29126491
698NF2220.9871364653243823178830000003-30000025
699TCN2220.9431464174454873128431010403, 31010440, 31011616-31011628, 31011745-31011747, 31022447-31022495, 31022503-31022508
700DRG1220.9809782608695721110431816389-31816408, 31823158
701TIMP3220.971698113207551863633198006-33198023
702LARGE220.9911933069132520227133733783-33733787, 33777910-33777913, 33780187-33780190, 33960995-33961001
703MYH9220.96515383307836205588336688096-36688101, 36691023-36691028, 36696914-36696916, 36697076-36697082, 36697580-36697587, 36697673-36697675, 36697678, 36697684-36697687, 36697695-36697701, 36697709-36697711, 36698655, 36698693-36698712, 36700041-36700062, 36701109-36701148, 36702018, 36708106-36708121, 36710336-36710343, 36712565, 36712569-36712570, 36712637-36712666, 36714337-36714345, 36716292-36716293, 36717820-36717824
704TRIOBP220.92054099746407564709838109295-38109299, 38109372, 38111893-38111899, 38119829-38119835, 38119894, 38119902, 38119976-38119982, 38120023-38120068, 38120560-38120566, 38120632-38120638, 38120962-38120968, 38121245, 38121826-38121830, 38121835, 38121841-38121842, 38121847, 38121859-38121860, 38121900-38121910, 38121920, 38121952-38121959, 38122007-38122023, 38122073-38122088, 38122125-38122132, 38122159, 38122362-38122371, 38122412-38122422, 38122429-38122449, 38122456, 38122459-38122467, 38122500-38122506, 38129347-38129354, 38129399-38129419, 38130555-38130578, 38130678-38130705, 38130742-38130773, 38130827, 38130832-38130834, 38130902-38130927, 38130935-38130984, 38131027-38131042, 38131076, 38131144, 38131170-38131200, 38131253, 38131269, 38131285, 38131388-38131395, 38136902-38136919, 38136947-38136953, 38147829, 38150985-38150989, 38151663-38151666, 38153678-38153686, 38153910-38153929, 38165159-38165176
705SOX10220.953604568165665140138379382-38379386, 38379391-38379398, 38379458-38379465, 38379540-38379573, 38379676-38379678, 38379691, 38379744-38379745, 38379781-38379784
706PLA2G6220.6809815950920215648938508274-38508305, 38508511, 38508518, 38508523, 38508547-38508562, 38509494-38509505, 38509530-38509532, 38509562-38509563, 38509600-38509639, 38509645-38509692
707PLA2G6220.78479966955803521242138508168-38508200, 38508268-38508305, 38508511, 38508518, 38508523, 38508547-38508562, 38509494-38509505, 38509530-38509532, 38509562-38509563, 38509600-38509639, 38509645-38509661, 38511534-38511560, 38511563-38511564, 38511595-38511606, 38511638, 38511653-38511658, 38511663, 38511682, 38511688, 38512101, 38512149, 38512186-38512209, 38516766-38516769, 38516843-38516846, 38516895-38516916, 38519109-38519110, 38519138, 38519147-38519170, 38519180-38519183, 38519223-38519265, 38522389-38522397, 38522403-38522405, 38522438, 38522448-38522451, 38524290-38524322, 38524338, 38524342-38524359, 38524397-38524405, 38524417-38524418, 38524422, 38524433-38524435, 38525485-38525531, 38525538-38525569, 38528903, 38528907, 38528910, 38528913, 38528923, 38528947, 38528986-38528988, 38528998, 38531023, 38531072, 38536065
708ADSL220.997250859106534145540750319, 40757328, 40761052-40761053
709EP300220.999033816425127724541513456, 41546108, 41546116, 41546127, 41546143, 41574215-41574216
710TNFRSF13C220.2072072072072144055542321381-42321456, 42321510-42321532, 42322105-42322107, 42322116, 42322120-42322123, 42322132-42322335, 42322642-42322751, 42322759-42322777
711CYB5R3220.959161147902873790643019848-43019855, 43026897-43026904, 43045301-43045321
712ATXN10220.9929971988795510142846067957-46067963, 46239549-46239551
713TRMU220.65718799368088434126646731666, 46731671-46731680, 46731682-46731685, 46731688, 46731700-46731743, 46733753, 46733815, 46733818-46733823, 46733828, 46742397-46742408, 46746188-46746190, 46746318-46746360, 46748063-46748071, 46748186-46748192, 46749707, 46749713, 46749724-46749726, 46749731-46749739, 46751341-46751351, 46751361-46751392, 46751405-46751406, 46751409-46751414, 46751419, 46751424-46751428, 46751432, 46751435-46751484, 46751889-46751909, 46751914-46751915, 46751919, 46751922-46751923, 46751938-46751957, 46752741-46752778, 46752790-46752828, 46752834-46752879
714ALG12220.6278118609407546146750297523-50297525, 50297994-50298001, 50298095, 50298100-50298103, 50301369, 50301385, 50301394, 50301411-50301414, 50301417-50301445, 50301474-50301476, 50301483-50301499, 50301513-50301514, 50301531, 50301538, 50301542, 50301549, 50301565-50301592, 50302892-50302912, 50302993-50302995, 50303601, 50303611-50303654, 50303675-50303694, 50303700-50303736, 50304082-50304205, 50304212-50304255, 50307033-50307062, 50307075, 50307122-50307125, 50307129, 50307137, 50307155-50307165, 50307252-50307255, 50307262-50307289, 50307311, 50307315-50307316, 50307321-50307373, 50307376, 50307403-50307405, 50307408-50307413
715MLC1220.51763668430335547113450502467-50502524, 50502535-50502557, 50502567-50502568, 50502576-50502627, 50506866, 50506878-50506908, 50506928-50506930, 50506933-50506934, 50506946, 50506949, 50506953, 50506960-50506971, 50508956-50508997, 50512648-50512760, 50515277-50515281, 50515321-50515323, 50515332-50515334, 50515339, 50515830-50515835, 50515843-50515881, 50515902-50515917, 50518355, 50518358, 50518384-50518408, 50518773-50518810, 50521568, 50521571, 50523170-50523174, 50523192, 50523197, 50523201-50523202, 50523260-50523304, 50523321-50523331
716SCO2220.7128589263420723080150962073-50962085, 50962092-50962122, 50962133, 50962151-50962174, 50962213-50962218, 50962346-50962348, 50962449, 50962454-50962461, 50962558, 50962578-50962624, 50962640-50962688, 50962719, 50962723, 50962749-50962767, 50962779, 50962817-50962840
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828WDR3650.99264705882353212856110432784-110432790, 110432796, 110441763-110441775
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833SLC22A550.9994026284348911674131705915
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838PPP2R2B50.99024024024024131332145979981-145979984, 146077615, 146077668-146077675
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840ADRB250.98631239935588171242148206439-148206440, 148206443-148206445, 148206448-148206450, 148206603-148206606, 148206958-148206962
841PDE6A50.9992257065427822583149263067, 149264122
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843GABRG250.9987080103359221548161495060, 161580152
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851SQSTM150.891156462585031441323179247939-179247951, 179247998-179248093, 179248119-179248141, 179250940-179250948, 179250975-179250977
852FLT450.2426686217008830994092180038375-180038387, 180038396, 180038446, 180039586, 180039589-180039603, 180041122, 180043367-180043390, 180043437, 180043447-180043489, 180043905-180043922, 180043945-180043956, 180043959, 180043994, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048648, 180048662-180048665, 180048675-180048904, 180049731-180049786, 180049797-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076490-180076545
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855DSP60.995357474466114086167542301-7542318, 7568124-7568132, 7581124-7581136
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857ALDH5A160.9914996964177314164724495338-24495351
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859NEU160.994391025641037124831827500-31827504, 31829824, 31829843
860CFB60.998684556695615380131911916, 31911929-31911930, 31919769-31919770
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863TNXB60.9009348731243612611272932009198, 32009201, 32009220-32009221, 32009225, 32009610, 32009628, 32009648-32009664, 32009684-32009711, 32009797-32009828, 32009913-32009944, 32010043-32010044, 32010072-32010136, 32010259-32010275, 32010322-32010371, 32010484, 32010488-32010491, 32010498, 32010503, 32010537, 32010541-32010546, 32010554, 32010602-32010608, 32010728-32010760, 32010790, 32010824-32010858, 32011005-32011030, 32011084-32011095, 32011214-32011215, 32011225-32011280, 32011306-32011327, 32011526-32011548, 32011796-32011797, 32011802-32011803, 32011807, 32011813, 32011829, 32011834, 32011877-32011906, 32012197-32012218, 32012274, 32012294-32012345, 32012370-32012437, 32012482-32012493, 32012796-32012827, 32012887, 32012890-32012893, 32012901, 32012938-32012963, 32012971-32012977, 32013028, 32013966, 32013986-32014031, 32014108, 32014153-32014184, 32014212-32014219, 32015566, 32015665, 32017927-32017936, 32020454, 32020654-32020662, 32021165-32021182, 32023646-32023672, 32023726-32023736, 32023792-32023798, 32024363-32024392, 32024416-32024444, 32024515-32024521, 32024525-32024528, 32025867, 32025890-32025893, 32025898-32025901, 32025947-32025950, 32025992-32026006, 32026048-32026107, 32026144-32026167, 32029182-32029183, 32029186, 32029213, 32029226, 32029245, 32029290-32029295, 32029337-32029356, 32029403-32029424, 32029937, 32029946-32029960, 32029982-32029987, 32030096-32030097, 32032598-32032623, 32035614, 32036741-32036748, 32036827-32036838, 32037386-32037389, 32037441-32037448, 32037470, 32037476, 32037486-32037488, 32057020, 32063431-32063432, 32063964-32063967, 32064092, 32064276-32064278, 32064288, 32064992-32064996
864HLA-DQA160.902343757576832609166, 32609169, 32609173, 32609192, 32609195, 32609199, 32609207-32609209, 32609212-32609216, 32609829, 32609855, 32609949-32609978, 32610002, 32610008-32610009, 32610387-32610406, 32610436, 32610461, 32610535-32610538
865HLA-DQB160.76463104325718578632629124-32629173, 32629222-32629234, 32629754, 32629797-32629814, 32629847, 32629855, 32629859, 32629929, 32629960-32629963, 32632575-32632653, 32632676-32632681, 32632700-32632701, 32632739-32632740, 32632744, 32632781-32632782, 32632820, 32634292, 32634331
866COL11A260.998848589522166521133152091-33152096
867SYNGAP160.9813988095238175403233388042-33388108, 33393634-33393636, 33411462-33411465, 33411469
868RPS1060.973895582329321349834392859-34392871
869FANCE60.98386095592826161135420398, 35420406-35420415, 35420483-35420485, 35423582-35423586, 35425347, 35425350-35425352, 35425359-35425360, 35430596
870TULP160.93247391037446110162935473812, 35473939, 35478645, 35479498-35479500, 35479573-35479574, 35479958-35480008, 35480041-35480047, 35480422-35480464, 35480592
871LHFPL560.98939393939394766035773581, 35773586, 35773819-35773823
872MOCS160.76085818942962457191139874329, 39881162, 39881578-39881579, 39883812-39883823, 39883880, 39883885-39883895, 39883898-39883900, 39883934-39883939, 39883970-39883971, 39893422-39893589, 39895068-39895317
873GUCA1B60.98673300165837860342152575-42152581, 42153432
874PRPH260.9682997118155633104142672140-42672171, 42672263
875PEX660.9785932721712563294342934072, 42935144-42935145, 42935284-42935285, 42936078, 42936690-42936709, 42937466-42937485, 42946490-42946492, 42946631-42946644
876CUL760.999019030802435509743008371-43008375
877RSPH960.867629362214211083143612845-43612855, 43612913-43612936, 43612968-43612974, 43613012-43613062, 43638526-43638542
878RUNX260.93039591315453109156645390442-45390535, 45480022, 45480027-45480036, 45480039, 45514793-45514795
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881EYS60.9978802331743520943564940587, 65016914-65016924, 65149056-65149058, 65532639, 65596620-65596623
882LMBRD160.951324707332179162370407516-70407533, 70409080, 70428963, 70447839-70447843, 70459253, 70462151-70462173, 70462180-70462197, 70462237-70462248
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886SLC35A160.999013806706111101488218281
887RARS260.997121473805415173788228442-88228446
888SIM160.998696219035232301100838802-100838804
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898PEX360.9991087344028511122143792170
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902PARK260.9978540772532231398162683591-162683593
903TBP60.96470588235294361020170871043, 170871046, 170871050-170871060, 170871076, 170871079, 170871100, 170871106, 170871120-170871138
904LFNG70.1482456140350997111402559496-2559860, 2559870-2559927, 2564329-2564377, 2564853-2564905, 2564931-2564952, 2565048-2565063, 2565066, 2565071, 2565101-2565107, 2565126-2565130, 2565133-2565161, 2565319-2565404, 2565878-2565969, 2565997-2566043, 2566470-2566555, 2566780-2566813, 2566823-2566842
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907DNAH1170.99786324786325291357221598609-21598616, 21599233, 21603865-21603867, 21784610-21784611, 21784614, 21882176-21882189
908KLHL770.9920499716070414176123164671, 23164689, 23164758-23164762, 23164769-23164771, 23191823, 23207479-23207481
909HOXA1370.76006855184233280116727238775, 27239065-27239084, 27239171-27239172, 27239199-27239210, 27239295-27239372, 27239379-27239396, 27239442, 27239445-27239481, 27239496-27239590, 27239604-27239612, 27239659-27239665
910GHRHR70.9772012578616429127231008453, 31008491-31008496, 31008520-31008529, 31008767-31008778
911BBS970.999624624624621266433195290
912GLI370.9896689858739249474342004632-42004635, 42004644-42004647, 42004870, 42005131-42005134, 42005249, 42005252, 42005277, 42005283-42005292, 42005607-42005609, 42005618-42005620, 42005678, 42005680-42005681, 42005882-42005885, 42007196-42007205
913PGAM270.951443569553813776244104510-44104518, 44104563-44104572, 44104873-44104880, 44104905-44104912, 44104959, 44105046
914GCK70.86438258386867190140144186062-44186089, 44186107-44186120, 44186132, 44186203-44186206, 44187294-44187296, 44187392-44187415, 44189440-44189441, 44190660-44190661, 44191870-44191878, 44191914-44191925, 44191970-44191996, 44192021-44192024, 44192920-44192960, 44193028-44193029, 44193044-44193060
915CCM270.73333333333333356133545039933-45039952, 45104160-45104162, 45108141, 45109435, 45109447-45109449, 45109452-45109453, 45109466, 45109474-45109476, 45112325-45112342, 45112374-45112382, 45113093-45113095, 45113104-45113157, 45113167, 45113170, 45113874-45113925, 45113944-45113968, 45113982, 45113992-45113995, 45115376-45115453, 45115462-45115465, 45115476-45115478, 45115494, 45115500-45115502, 45115504-45115517, 45115540-45115576, 45115636-45115642, 45115649-45115650, 45115652-45115656
916GRB1070.999439775910361178550674080
917EGFR70.9810074318744869363355086971-55086972, 55086980, 55086997-55087017, 55087026-55087057, 55220298-55220303, 55229192-55229196, 55241673, 55268948
918GUSB70.91053169734151175195665435281-65435291, 65435336-65435353, 65439513-65439518, 65439542-65439587, 65439669-65439690, 65439977-65439980, 65439985, 65441002-65441014, 65444420-65444430, 65444878, 65445233-65445256, 65445367, 65445377-65445378, 65445383, 65446962, 65446997-65446999, 65447028-65447036, 65447040
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920KCTD770.909195402298857987066094052-66094053, 66094085, 66094120-66094195
921SBDS70.968127490039842475366456158-66456165, 66456262-66456277
922NCF170.8413282572637917, 72639790-72639811, 72639957-72639989, 72640026-72640039, 72643603, 72643691-72643717, 72644231-72644233, 72645871-72645896, 72645962, 72648713, 72648739-72648740, 72648745
923FKBP670.987804878048781298472742432-72742443
924ELN70.82298850574713385217573442518-73442599, 73457002-73457019, 73457036, 73461080-73461083, 73462500-73462502, 73462855-73462856, 73462866, 73462882-73462886, 73466096-73466126, 73466166, 73466254-73466313, 73467497, 73467506-73467520, 73467583-73467622, 73471984-73471998, 73474253, 73474271-73474273, 73474706-73474709, 73474714-73474741, 73474746, 73474782, 73477483-73477489, 73477537, 73477683, 73477951-73477996, 73478018-73478024, 73480274-73480279
925NCF170.6385336743393424117374191613-74191626, 74191629, 74191634, 74193477, 74193639-74193683, 74193703-74193714, 74193765-74193768, 74197282-74197318, 74197335-74197361, 74197372-74197404, 74197934-74197940, 74197955, 74197973-74197974, 74199554-74199579, 74199645, 74202339, 74202373-74202401, 74202409-74202429, 74202903-74202906, 74202953, 74202957, 74202976, 74202986-74203027, 74203036-74203048, 74203383-74203411, 74203425-74203427, 74203438-74203504
926POR70.68281938325991648204375583373-75583385, 75609751, 75609756-75609761, 75609772-75609782, 75610374-75610381, 75610436, 75611618-75611625, 75612868-75612873, 75612876, 75613056-75613069, 75613075-75613085, 75613112-75613119, 75614095-75614099, 75614133-75614173, 75614203-75614270, 75614276, 75614376-75614390, 75614400-75614406, 75614419-75614460, 75614470-75614518, 75614897-75614924, 75614934-75614989, 75614995-75615009, 75615014-75615016, 75615068-75615113, 75615136-75615146, 75615254-75615304, 75615331, 75615346-75615347, 75615363-75615386, 75615484-75615506, 75615665-75615707, 75615755-75615783
927HSPB170.970873786407771861875932067-75932070, 75932073-75932078, 75932386-75932393
928CD3670.995771670190276141980295759-80295762, 80300415-80300416
929ABCB470.989062542384087031473-87031486, 87032504-87032506, 87032584-87032593, 87046668, 87051460-87051467, 87060845-87060846, 87074183-87074186
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931KRIT170.9886928991406625221191852159-91852174, 91871348-91871356
932PEX170.999740394600211385292146721
933SGCE70.994100294985258135694252663-94252666, 94259062, 94259073-94259075
934TFR270.9833748960931402406100238655, 100238659, 100238687-100238707, 100238751-100238766, 100238829
935RELN70.99961453213838410377103629800-103629803
936MET70.9997603642463514173116403225
937CFTR70.960837272113441744443117180197-117180207, 117188713-117188753, 117188760-117188766, 117188794-117188823, 117188841-117188853, 117188873-117188877, 117199598-117199603, 117199653-117199657, 117230469-117230470, 117232246-117232248, 117235011-117235044, 117235055, 117267692-117267707
938AASS70.9985616684645842781121769522-121769525
939PAX470.9990310077519411032127251188
940IMPDH170.95611111111111791800128034962, 128034965, 128038555, 128038666-128038667, 128040549, 128041082, 128045822-128045823, 128045829-128045837, 128045843, 128049495-128049503, 128049520, 128049830-128049846, 128049865, 128049872-128049874, 128049879-128049886, 128049935-128049955
941FLNC70.938738077769635018178128470692-128470699, 128470708-128470738, 128470808-128470852, 128470862, 128470879-128470911, 128470922, 128470935, 128470962-128471043, 128475380, 128475430-128475463, 128475533, 128475560, 128477214, 128477254-128477311, 128477464-128477497, 128477515, 128477519, 128477535, 128477561-128477571, 128477574, 128478392-128478395, 128478445, 128478685-128478686, 128478742, 128478817-128478825, 128480699-128480719, 128480892, 128480963-128480964, 128481001, 128481225-128481229, 128481338-128481351, 128481605, 128482296-128482311, 128482351-128482361, 128482643-128482644, 128482719, 128482737-128482752, 128482897-128482901, 128482978-128482979, 128482982, 128482990, 128483005, 128483327-128483328, 128483332-128483333, 128483589, 128483961-128483963, 128484246, 128485171, 128488703, 128488706, 128492665, 128492704-128492706, 128492785, 128492948, 128492992, 128493074, 128493847, 128494597, 128496670-128496683
942ATP6V0A470.9889021006738282523138437402-138437404, 138437414-138437418, 138437479-138437491, 138441276-138441279, 138441283-138441285
943BRAF70.97827031725337502301140508727, 140624366-140624379, 140624395-140624429
944PRSS170.9381720430107546744142458506-142458512, 142460332-142460338, 142460366-142460397
945CLCN170.9996629592180712967143042618
946CNTNAP270.9997497497497513996146536915
947KCNH270.960344827586211383480150642498-150642499, 150654574-150654578, 150655165-150655176, 150655181-150655183, 150655197-150655206, 150655285, 150671838-150671872, 150671882-150671888, 150671899, 150671918-150671921, 150671968-150671969, 150672005, 150674926-150674965, 150674987-150675001
948PRKAG270.9982456140350931710151573610, 151573664, 151573670
949SHH70.445644348452127701389155595594-155595821, 155595828-155595838, 155595862-155595930, 155595932, 155595944-155595957, 155595970-155595998, 155596014-155596038, 155596045-155596046, 155596052-155596085, 155596094-155596221, 155596238-155596264, 155596312-155596330, 155596336-155596359, 155596366, 155596376-155596382, 155596417-155596420, 155598999-155599062, 155599073-155599082, 155599143-155599154, 155599192-155599232, 155604785-155604788, 155604791-155604804, 155604815-155604816
950MNX170.719734660033173381206156798418-156798424, 156799259-156799271, 156802406, 156802596, 156802618-156802620, 156802637-156802792, 156802799-156802805, 156802813-156802827, 156802846-156802847, 156802853-156802866, 156802874-156802944, 156802959-156802985, 156803016-156803036
951CLN880.9976771196283428611719475-1719476
952GATA480.88337095560572155132911565836-11565866, 11565901-11565917, 11565921, 11565982-11565996, 11566003-11566014, 11566047-11566050, 11566056-11566068, 11566111-11566114, 11566238-11566248, 11566283, 11566292-11566294, 11566301-11566314, 11566344-11566346, 11566385-11566410
953TUSC380.997134670487113104715398027-15398029
954CHRNA280.92955974842767112159027319217-27319218, 27320571-27320599, 27320625-27320631, 27320865-27320910, 27320975-27320985, 27321375-27321391
955FGFR180.988225740966329246338271511-38271522, 38274844-38274845, 38287245-38287247, 38314917-38314928
956ANK180.9887600983491464569441530418-41530421, 41546041-41546049, 41552717-41552720, 41553925-41553928, 41554223-41554226, 41555585-41555588, 41559094, 41559640-41559656, 41561939-41561940, 41566342, 41566350, 41583417-41583426, 41585522-41585524
957THAP180.981308411214951264242693116-42693119, 42693320, 42698185-42698190, 42698194
958HGSNAT80.9785115303983241190842995657, 42995660, 42995675, 42995687-42995691, 42995703-42995705, 42995727-42995748, 43024317-43024324
959RP180.999845464379541647155533730
960CHD780.9929953302201563899461654597-61654604, 61693817, 61712947-61712959, 61713036-61713049, 61732566-61732572, 61734366-61734379, 61734441-61734442, 61734632-61734634, 61735126
961CYP7B180.994082840236699152165517277-65517281, 65528754-65528757
962EYA180.998313659359193177972127642-72127644
963NBN80.9885209713024326226590960065, 90990519, 90990540-90990551, 90992968, 90993703-90993705, 90994962-90994964, 90995009-90995010, 90996766-90996767, 90996772
964DECR180.997023809523813100891057192-91057194
965TMEM6780.9849397590361445298894768048-94768052, 94811942-94811955, 94811960-94811961, 94827563-94827579, 94828601-94828607
966GDF680.993421052631589136897157525-97157526, 97157569-97157575
967VPS13B80.997081874270473511994100443839-100443864, 100443890-100443892, 100514049-100514051, 100874071-100874073
968RRM2B80.9924242424242481056103220483-103220489, 103244417
969KIAA019680.99252873563218263480126044491-126044494, 126079841, 126091140, 126095988-126095994, 126096083-126096094, 126096098
970TG80.99819429396894158307133984869-133984882, 133984959
971SLURP180312312143822561-143822694, 143823221-143823340, 143823746-143823803
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1020DBH90.4190938511326910771854136501543-136501590, 136501615, 136501646-136501649, 136501670, 136501692-136501698, 136501729-136501738, 136501745-136501747, 136501784-136501816, 136504968-136504998, 136505009-136505044, 136505110-136505114, 136507347-136507391, 136507435, 136507522, 136507557, 136507573, 136508535-136508564, 136508588-136508608, 136508624-136508684, 136508691-136508708, 136509386-136509418, 136509430-136509442, 136512986, 136512989-136512998, 136513005, 136513017-136513060, 136513094-136513131, 136516756-136516848, 136516856-136516899, 136517368-136517406, 136518062-136518082, 136518097, 136518111, 136518116, 136521645-136521653, 136521662-136521681, 136521688-136521690, 136521700-136521703, 136521716-136521772, 136522192-136522351, 136523438-136523455, 136523462-136523569
1021SARDH90.582879941965911502757136529011-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136550340-136550341, 136550353, 136550394-136550408, 136555502-136555540, 136555577-136555619, 136555629, 136555633, 136555641-136555643, 136559380-136559411, 136559431-136559493, 136561364-136561367, 136561468-136561478, 136568038-136568039, 136568042-136568043, 136568077-136568121, 136568140-136568151, 136573409-136573412, 136573497-136573544, 136577741-136577753, 136577792-136577794, 136577809-136577831, 136578176-136578183, 136578211, 136578246, 136582456-136582462, 136582535-136582577, 136584123-136584129, 136584142-136584147, 136584159-136584164, 136597683-136597688, 136599061-136599087, 136599208-136599252, 136599264-136599295
1022COL5A190.6238897951785420755517137534034-137534142, 137582758-137582771, 137582787-137582823, 137582834-137582853, 137582888-137582925, 137591755-137591968, 137593017-137593047, 137593060-137593179, 137619171-137619195, 137619213, 137620516-137620531, 137620555, 137620558-137620566, 137620575, 137620588, 137620591-137620600, 137620607-137620653, 137622170, 137622175, 137622185-137622196, 137622199, 137622216-137622222, 137623342-137623356, 137623404-137623438, 137623491-137623509, 137630323-137630328, 137630337-137630361, 137630603-137630647, 137630653-137630654, 137642388-137642445, 137642458-137642462, 137642643-137642685, 137642690-137642728, 137644435-137644491, 137645696-137645708, 137645738-137645749, 137646126, 137646128, 137646135-137646172, 137648614-137648664, 137650106-137650142, 137653771-137653824, 137655539-137655583, 137657528-137657553, 137658313-137658344, 137658846-137658856, 137660278-137660309, 137664636-137664647, 137664660-137664680, 137666705-137666734, 137666742-137666758, 137671948-137671992, 137674513-137674529, 137676838-137676849, 137676872-137676933, 137676939-137676942, 137677841-137677894, 137681002-137681027, 137687108-137687114, 137688230-137688264, 137688694-137688729, 137688737-137688747, 137690280, 137690284, 137690295-137690307, 137693826-137693845, 137693853, 137694751-137694761, 137694774, 137694787-137694789, 137694821-137694822, 137694826-137694830, 137696837-137696844, 137696875-137696891, 137697018-137697051, 137698065-137698079, 137701029, 137701131-137701134, 137703444-137703445, 137704333-137704335, 137705829-137705831, 137706664-137706669, 137706712-137706715, 137707423, 137707787-137707788, 137707793, 137710525-137710537, 137710700-137710742, 137710846-137710850, 137711962-137711986, 137716680-137716687, 137726819-137726823, 137726826, 137726978, 137726989, 137734074-137734080
1023LHX390.769230769230772791209139089183-139089208, 139089263, 139089332-139089354, 139089451-139089453, 139089467-139089470, 139089482-139089490, 139089503-139089509, 139090554-139090557, 139090651-139090652, 139090763-139090804, 139090842-139090846, 139090876-139090880, 139090887-139090905, 139091574-139091601, 139091673, 139091684-139091695, 139092586, 139094792-139094851, 139094858-139094884
1024INPP5E90.3214470284237713131935139324197-139324230, 139324740, 139324762-139324769, 139324858-139324860, 139325490-139325550, 139326276-139326437, 139326931-139327014, 139327034, 139327409-139327444, 139327492-139327527, 139327607-139327610, 139327651-139327657, 139327669-139327705, 139327720-139327731, 139328489-139328572, 139328583-139328586, 139329201-139329259, 139329272-139329284, 139329289-139329295, 139329304, 139329311-139329315, 139333060-139333108, 139333117-139333138, 139333147-139333231, 139333245-139333322, 139333336-139333403, 139333412-139333461, 139333492-139333526, 139333547-139333716, 139333723, 139333732-139333746, 139333769-139333828, 139333833, 139333852-139333871
1025NOTCH190.06677099634846171567668139390523-139390832, 139390838-139391049, 139391061-139391919, 139391930-139392010, 139393361-139393387, 139393564-139393573, 139393579-139393632, 139393635, 139393639-139393668, 139393675, 139393691-139393704, 139395004-139395201, 139395209-139395299, 139396200-139396322, 139396337-139396365, 139396453-139396462, 139396471-139396540, 139396724-139396862, 139396869-139396891, 139396902-139396940, 139397634-139397653, 139397659-139397675, 139397677-139397678, 139397682-139397685, 139397688-139397723, 139397744, 139397749-139397763, 139397765-139397777, 139399125, 139399128-139399134, 139399151-139399332, 139399339-139399401, 139399407-139399441, 139399455-139399556, 139399776-139399894, 139399907-139399966, 139399974-139400043, 139400054-139400333, 139400979-139401091, 139401179-139401425, 139401769-139401819, 139401837, 139401841-139401889, 139402411-139402444, 139402451-139402495, 139402514, 139402521-139402555, 139402569-139402591, 139402684-139402837, 139403322-139403523, 139404185-139404194, 139404206-139404257, 139404274, 139404280-139404284, 139404304-139404413, 139405105-139405189, 139405207-139405257, 139405604-139405623, 139405629-139405707, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409846, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412291, 139412297-139412389, 139412589-139412744, 139413043-139413125, 139413133-139413276, 139413895-139413974, 139413984-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
1026AGPAT290.19115890083632677837139568204-139568272, 139568292-139568363, 139568370-139568379, 139569187-139569194, 139569209-139569243, 139569251-139569259, 139571037-139571044, 139571059-139571076, 139571081-139571087, 139571126-139571132, 139571413-139571440, 139571449-139571504, 139571544-139571574, 139571579, 139571586-139571587, 139571875-139572008, 139581628-139581809
1027SLC34A390.2433333333333313621800140126218-140126221, 140126228, 140126524-140126580, 140126583-140126610, 140127027, 140127036-140127077, 140127086, 140127107-140127119, 140127128-140127155, 140127242, 140127259-140127260, 140127263, 140127268-140127281, 140127306-140127359, 140127370, 140127373-140127374, 140127456-140127467, 140127475-140127517, 140127560, 140127661-140127686, 140127711-140127715, 140127729-140127758, 140127766-140127768, 140127782-140127785, 140127796-140127798, 140127805-140127848, 140128085-140128174, 140128315-140128380, 140128561-140128728, 140128868-140128906, 140128914-140128963, 140128967, 140128981, 140129060-140129067, 140129102-140129181, 140130414-140130707, 140130725-140130868
1028EHMT190.7413394919168610083897140513481-140513501, 140605438-140605471, 140611078-140611634, 140622839-140622851, 140622891-140622892, 140622897, 140622920-140622938, 140622953-140622960, 140638501-140638505, 140669626-140669632, 140669660-140669704, 140671130-140671149, 140671261-140671296, 140672334-140672349, 140672480-140672501, 140674151-140674169, 140685312, 140695407-140695411, 140705916-140705921, 140706029, 140706040-140706044, 140706055-140706065, 140707489-140707491, 140707544, 140707554, 140707559, 140707838-140707848, 140708883-140708885, 140708919-140708950, 140728801-140728806, 140728843-140728860, 140728893-140728907, 140728934-140728976, 140729225, 140729276-140729279, 140729331-140729332, 140729379-140729391
1029SHOXX0.52332195676906419879591633-591909, 595353-595362, 595384-595404, 595413-595414, 595454-595561, 601744
1030CSF2RAX0.3563218390804684013051401598, 1401601, 1401604, 1401609, 1401619-1401639, 1401661-1401672, 1404671-1404700, 1404722-1404739, 1404765-1404807, 1407463-1407469, 1407652-1407653, 1407684-1407692, 1407698-1407734, 1407748-1407779, 1409260, 1409264, 1409291-1409306, 1409309-1409316, 1409321-1409322, 1409327-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419421, 1419439-1419457, 1419467-1419519, 1422154-1422255, 1422816-1422818, 1422828-1422882, 1422903-1422912, 1424339-1424369, 1424398-1424420, 1428298, 1428302-1428319, 1428369-1428372
1031ARSEX0.991525423728811517702852942, 2852951-2852952, 2852959-2852965, 2873459-2873463
1032KAL1X0.99608418991679820438699992-8699999
1033MID1X0.9920159680638716200410423031-10423033, 10427686-10427687, 10437838, 10437843-10437846, 10437856, 10450530, 10450562-10450565
1034FANCBX0.999612403100781258014883468
1035PHKA2X0.96278317152104138370818911606, 18911662-18911678, 18912332-18912382, 18912388, 18912433-18912451, 18912502-18912509, 18912515-18912522, 18915289, 18915326-18915345, 18917294, 18917303-18917306, 18919617, 18924668, 18924730, 18924896, 18926166, 19001998, 19002004
1036PDHA1X0.997442455242973117319362166, 19373815-19373816
1037RPS6KA3X0.997300944669376222320194555-20194560
1038PHEXX0.998666666666673225022186480-22186482
1039ARXX0.89283599763173181168925031220-25031227, 25031416-25031431, 25031438-25031483, 25031516-25031543, 25031559, 25031572-25031587, 25031643-25031691, 25031770, 25031777-25031779, 25031785, 25031885-25031896
1040IL1RAPL1X0.996174079387858209129417315-29417322
1041GKX0.9669073405535555166230683673, 30683679, 30712624-30712654, 30714229-30714245, 30714249, 30736694-30736695, 30738146-30738147
1042DMDX0.99701573521432331105832364154, 32364159, 32364166, 32383194-32383206, 32398788-32398794, 32407662, 32408252-32408255, 32466686-32466687, 32613923, 32834651, 32834656
1043RPGRX0.439722463139641938345938144822-38144828, 38144856-38144858, 38144896-38144985, 38145001-38146398, 38146417-38146438, 38146459-38146498, 38147116-38147139, 38147148-38147173, 38147184, 38147198-38147256, 38147276-38147294, 38150212-38150257, 38150270-38150271, 38150277, 38150646-38150650, 38150656-38150662, 38150673-38150709, 38150731-38150737, 38156567-38156583, 38156592-38156598, 38156608-38156627, 38156676-38156705, 38158214-38158255, 38158309-38158322, 38160552-38160553, 38160556-38160558, 38163920-38163927, 38178161
1044TSPAN7X0.9841275038420800-38420811
1045BCORX0.9884206529992461526839921442, 39922042-39922044, 39931640, 39931646, 39931665-39931667, 39931945, 39932010, 39932049-39932058, 39932130, 39932171-39932173, 39932188, 39933106, 39933272-39933283, 39933339-39933340, 39933350, 39933706-39933711, 39934082, 39934104-39934114, 39937143
1046NYXX0.70401106500692428144641332744-41332770, 41332851-41332858, 41332880-41332898, 41332901, 41332905-41332912, 41332930-41332957, 41332990-41332992, 41333001, 41333049-41333076, 41333090-41333097, 41333172-41333202, 41333254-41333279, 41333294-41333305, 41333381-41333452, 41333474-41333480, 41333508-41333538, 41333549-41333557, 41333563, 41333692, 41333712-41333713, 41333750-41333752, 41333756-41333768, 41333915-41333963, 41333996-41334022, 41334097-41334109
1047MAOAX0.9880050505050519158443571188-43571190, 43572024-43572039
1048UBA1X0.999685237645581317747058964
1049ZNF41X0.99743589743596234047307026-47307029, 47307806, 47307876
1050CFPX0.995744680851066141047488985-47488990
1051FTSJ1X0.9989898989899199048337443
1052PORCNX0.9848484848484821138648370291-48370294, 48370722, 48370860-48370868, 48370979-48370985
1053WASX0.999337309476471150948549541
1054PQBP1X0.98872180451128979848758544, 48760018-48760025
1055CACNA1FX0.95635321873947259593449061640-49061663, 49061673-49061674, 49061679, 49061697-49061709, 49061713-49061717, 49061742-49061745, 49061749, 49062170-49062175, 49062225-49062226, 49062972-49062974, 49062987, 49063010, 49063069-49063070, 49063568-49063573, 49064982, 49065033-49065034, 49065741-49065743, 49065753, 49065756, 49065780-49065784, 49065816, 49066401-49066425, 49066459, 49066841-49066857, 49066863, 49067084, 49067102-49067110, 49067113, 49067142, 49067460, 49067475-49067476, 49067508-49067518, 49067537, 49067924-49067930, 49068420, 49068424, 49068433, 49074965, 49075853-49075859, 49076191-49076249, 49079187-49079188, 49079198-49079205, 49079212-49079213, 49084902-49084909, 49086750, 49086759, 49086990, 49087350, 49087418-49087419
1056FOXP3X0.9814814814814824129649107823, 49108144, 49108148, 49108204-49108210, 49110486, 49110510-49110511, 49110523-49110528, 49112176-49112178, 49112185, 49114917
1057CLCN5X0.999184006527952245149806948, 49837241
1058SMC1AX0.998919502971374370253436124-53436127
1059FGD1X0.9840609840609846288654482971-54482977, 54494250-54494262, 54494273, 54496787, 54497022-54497023, 54497035, 54521623-54521635, 54521734-54521740, 54521855
1060ARX0.9750271444082569276366765155-66765208, 66765241-66765245, 66765248-66765252, 66765258-66765259, 66766374, 66766377, 66941790
1061EDAX0.992346938775519117669247796-69247804
1062DLG3X0.996740016299928245469665052-69665057, 69665068-69665069
1063MED12X0.986378940924489653470360680-70360682, 70360691-70360692, 70361094-70361124, 70361133-70361185
1064TAF1X0.9862724392819478568270586187-70586252, 70586296-70586305, 70601752, 70602656
1065PHKA1X0.997549019607849367271915618-71915626
1066SLC16A2X0.998371335504893184273641402-73641403, 73641411
1067ABCB7X0.998231653404074226274291513, 74291516-74291518
1068ATRXX0.999866292285061747976939065
1069ATP7AX0.999333777481683450377286985-77286986, 77296190
1070BRWD3X0.9955629506378324540979937504-79937510, 79939653, 79958991, 79960314, 79973171, 79973233-79973234, 79974999, 79975002, 79978220, 79984376, 80064942-80064944, 80064955, 80064962, 80064969-80064970
1071ZNF711X0.9916885389326319228684510412, 84520232-84520249
1072CHMX0.999490316004081196285128081
1073ACSL4X0.9995318352059912136108924324
1074UPF3BX0.98278236914601251452118968849-118968851, 118968894-118968896, 118971843-118971851, 118977174-118977176, 118977183, 118977190-118977192, 118979161-118979163
1075NDUFA1X0.971830985915496213119007352-119007356, 119010480
1076CUL4BX0.99234135667396212742119673136-119673139, 119691808-119691815, 119694346-119694354
1077XIAPX0.905622489959841411494123019513-123019522, 123019581-123019587, 123019603-123019644, 123019738, 123019749-123019750, 123019807, 123019846-123019857, 123019925, 123019979-123019981, 123020216-123020228, 123025125-123025141, 123040920-123040951
1078OCRLX0.9929785661493192706128674437-128674455
1079GPC3X0.9942627653471101743133119342-133119346, 133119472-133119476
1080ARHGEF6X0.99957099957112331135767861
1081ZIC3X0.918091168091171151404136648908-136648916, 136648985-136648987, 136649692-136649696, 136649895, 136651068-136651089, 136651130-136651182, 136651203-136651224
1082SOX3X0.98284862043251231341139585960, 139585963, 139586455, 139586458-139586462, 139586495-139586509
1083AFF2X0.99517276422764193936147582619-147582636, 148037709
1084IDSX0.9957652752571171653148568556-148568562
1085NSDHLX0.98128342245989211122152037398-152037406, 152037477, 152037597-152037600, 152037606-152037612
1086FAM58AX0.9224489795918457735152864439-152864445, 152864470-152864480, 152864483-152864521
1087SLC6A8X0.4716981132075510081908152954030-152954274, 152954287-152954291, 152955873, 152955891, 152955926-152955929, 152955945-152955961, 152956766-152956797, 152956875-152956899, 152956907-152956909, 152956922-152956965, 152956978, 152957430-152957450, 152957477-152957511, 152957518-152957562, 152958621-152958630, 152958753-152958756, 152958799-152958817, 152958933, 152958936, 152958943-152958944, 152958956, 152958985, 152958988-152958989, 152958997, 152959014, 152959018, 152959360-152959370, 152959398, 152959402-152959405, 152959413, 152959432, 152959442, 152959455, 152959458, 152959470-152959472, 152959593-152959680, 152959686-152959714, 152959799-152959809, 152959816-152959845, 152959876-152959901, 152959999-152960026, 152960064-152960088, 152960174-152960272, 152960279-152960321, 152960330-152960336, 152960532-152960538, 152960547-152960606, 152960662-152960669
1088ABCD1X0.5352993744414710402238152990722-152990762, 152990770-152990806, 152990830-152990978, 152990985-152991043, 152991055-152991096, 152991099, 152991120-152991122, 152991125-152991171, 152991186-152991204, 152991221-152991251, 152991262-152991284, 152991345-152991347, 152991352-152991353, 152991359-152991360, 152991415-152991434, 152991447, 152991454, 152991477-152991478, 152991485, 152991511-152991527, 152991531-152991532, 152991557-152991567, 153001619-153001627, 153001639-153001684, 153001707-153001708, 153001806-153001878, 153001916-153001934, 153001944, 153002614-153002621, 153002633-153002644, 153002665, 153002672-153002692, 153005546-153005584, 153005620, 153005658, 153005681-153005691, 153006066, 153006075, 153006129-153006156, 153008473-153008486, 153008675-153008711, 153008756-153008794, 153008943-153008950, 153008970-153008987, 153009000-153009055, 153009077-153009156
1089L1CAMX0.98675145733969503774153128217-153128219, 153128347, 153130152, 153130158, 153130330-153130331, 153130359, 153133481, 153134995, 153135115-153135117, 153135351-153135353, 153135372, 153135380, 153135544, 153135559-153135575, 153135588, 153136515, 153136548, 153136616-153136620, 153137616-153137618, 153137627, 153141216
1090AVPR2X0.98924731182796121116153171489, 153171492, 153171757-153171761, 153172065-153172069
1091MECP2X0.96726786907148491497153297873-153297879, 153363061-153363102
1092OPN1LWX0.937899543379681095153416209, 153416315, 153416346, 153418442-153418472, 153420086-153420116, 153420152, 153421850, 153424299
1093OPN1MWX0.96438356164384391095153455595-153455601, 153457216-153457246, 153461429
1094OPN1MWX0.96438356164384391095153492713-153492719, 153494334-153494364, 153498547
1095FLNAX0.5873615307150132787944153577243-153577272, 153577293-153577305, 153577738-153577783, 153577794-153577832, 153577846, 153577849, 153577852, 153577874-153577909, 153578048, 153578103, 153578137-153578139, 153578399-153578416, 153578458-153578471, 153578534-153578554, 153579277-153579310, 153579391, 153579399-153579404, 153579949-153579952, 153580045-153580054, 153580304-153580341, 153580345-153580346, 153580377, 153580380, 153580616-153580641, 153580667-153580692, 153580709-153580755, 153580771-153580812, 153580921-153580924, 153580942-153580961, 153580970-153580972, 153580990, 153581027-153581043, 153581159-153581178, 153581288-153581290, 153581369-153581430, 153581460-153581494, 153581518, 153581538-153581570, 153581664-153581686, 153581720, 153581736-153581795, 153581818-153581825, 153581926, 153581964-153582005, 153582023-153582055, 153582297-153582325, 153582535-153582560, 153582582, 153582591, 153582595, 153582617, 153582622, 153582656-153582659, 153582760-153582780, 153582812-153582831, 153582847-153582851, 153582994-153583013, 153583021-153583076, 153583193-153583202, 153583209-153583233, 153583249-153583269, 153583288-153583316, 153583334, 153583345-153583353, 153583377-153583381, 153583385-153583410, 153583422-153583440, 153585619-153585638, 153585828-153585848, 153585872-153585928, 153585945, 153586572, 153586575-153586577, 153586606-153586644, 153586660-153586662, 153586668-153586709, 153586813-153586866, 153586913-153586928, 153587358-153587359, 153587372-153587407, 153587418, 153587614-153587626, 153587630, 153587638-153587668, 153587678, 153587682-153587684, 153587708-153587762, 153587852-153587885, 153587903-153587931, 153587950-153587962, 153587968-153587970, 153587984-153588014, 153588100-153588126, 153588134-153588142, 153588164-153588198, 153588231-153588263, 153588358-153588393, 153588405-153588463, 153588467-153588469, 153588528, 153588531, 153588543, 153588570-153588613, 153588634-153588644, 153588658, 153588685, 153588799-153588802, 153588806-153588808, 153588813-153588827, 153588831-153588832, 153588835, 153588841-153588872, 153588904-153588907, 153588938-153588951, 153589700-153589702, 153589705-153589709, 153589745-153589804, 153589819, 153589827, 153589844, 153589858, 153589900, 153589905, 153589908-153589915, 153589920, 153590038-153590057, 153590121, 153590126-153590150, 153590347-153590351, 153590354-153590356, 153590380-153590419, 153590428, 153590431-153590440, 153590450, 153590453, 153590459-153590460, 153590467, 153590487-153590488, 153590491-153590516, 153590610-153590620, 153590626-153590628, 153590634, 153590657, 153590819-153590837, 153590850-153590871, 153590900-153590919, 153590925-153590929, 153590939-153590946, 153591029-153591045, 153591089-153591131, 153591148-153591152, 153592406, 153592436-153592461, 153592486-153592492, 153592512-153592533, 153592632-153592648, 153592657-153592683, 153592702-153592718, 153592918, 153592941, 153592945-153592948, 153592962-153592971, 153593009-153593026, 153593071-153593087, 153593206, 153593212, 153593224-153593231, 153593304, 153593308-153593325, 153593508-153593541, 153593594-153593627, 153593717-153593729, 153593749-153593751, 153593785-153593795, 153593848-153593854, 153594392-153594394, 153594399, 153594406-153594422, 153594427, 153594438, 153594450-153594459, 153594462-153594465, 153594480-153594487, 153594502, 153594676-153594691, 153594761-153594777, 153594780, 153594812-153594838, 153594930-153594956, 153594992, 153595100-153595103, 153595118, 153595127, 153595146-153595164, 153595182-153595187, 153595209, 153595212, 153595765-153595796, 153595817-153595832, 153595896-153595899, 153596016-153596030, 153596038-153596039, 153596071-153596106, 153596212-153596215, 153596219-153596221, 153596249-153596266, 153596269-153596289, 153596314-153596362, 153596404, 153596440, 153596458, 153599247, 153599253-153599303, 153599314, 153599357-153599364, 153599369-153599373, 153599383-153599397, 153599420-153599426, 153599432-153599483, 153599510-153599578, 153599584-153599598
1096EMDX0.57647058823529324765153607864-153607876, 153607884, 153607896-153607915, 153608050-153608091, 153608124-153608154, 153608314-153608352, 153608594-153608614, 153608653-153608702, 153608723, 153609129-153609145, 153609155, 153609242-153609276, 153609328, 153609400, 153609407, 153609441-153609452, 153609500-153609514, 153609525-153609527, 153609538-153609557
1097TAZX0.81622306717364145789153640192-153640197, 153640232-153640256, 153640269-153640272, 153640280-153640289, 153640470-153640474, 153640483, 153640496, 153640513-153640551, 153641544-153641546, 153641555-153641561, 153641819-153641861, 153648555
1098GDI1X0.99107142857143121344153665626, 153666876-153666882, 153668804, 153669489-153669490, 153670760
1099G6PDX0.882173382173381931638153760220-153760259, 153760609-153760626, 153760653-153760654, 153760913, 153761010, 153761284, 153761798-153761803, 153761832-153761855, 153761863-153761869, 153762346-153762352, 153762556-153762562, 153762708-153762709, 153763394-153763433, 153764165-153764175, 153764360, 153764363-153764382, 153775030-153775033, 153775081
1100IKBKGX0.9938524590163991464153770570, 153780377-153780383, 153788750
1101DKC1X0.9961165048543761545153993721, 153993787, 153994257, 153995335-153995336, 154001475
1102F8X0.9991496598639567056154132242-154132244, 154158453-154158454, 154158708
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3DRD2-S311Chet unknown0.017Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.799 (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
2.5WNT10A-F228Ihet unknown0.019Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
2IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-T244Ihomozygous0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-T414Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2BRCA2-N372Hhomozygous0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA2-HKILK1488LKIIIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2GPR98-L2004Fhomozygous0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2GPR98-R2097Chomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
2GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
2GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly 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
1.375SLC3A1-M467Thet unknown0.002Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.977 (probably damaging), Testable gene in GeneTests
1.375SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
1NR_027052-Q90*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MC4R-V103Ihet unknown0.016Unknown
protective
Low clinical importance,
uncertain
This variant was associated with a reduced incidence of obesity in a large meta-analysis of more than 55,000 individuals.
1CYP2B6-R22Chet unknown0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.639 (possibly damaging)
1CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
1CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-H-P32Qhomozygous0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-S182Whomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-H632Qhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-R265Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCN2-R259Phomozygous0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TCN2-L376Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A11Thomozygous0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-EF73VLhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-SK75RQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79DelhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-IM98SLhomozygous0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-T130Ihomozygous0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
1SCARF2-P747Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
1SCARF2-S549Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PALB2-G998Ehet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PALB2-E672Qhet unknown0.024Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.952 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PALB2-Q559Rhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-K241Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S214Nhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A172Thomozygous0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R87PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G77EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-LL28PVhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V15Ahomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PMS2-P470Shomozygous0.375Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1MAD1L1-R59Chet unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), 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
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC22A1-R61Chet unknown0.057Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1SLC22A1-L160Fhet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M408Vhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M420Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DAGLB-Q664Rhomozygous0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
1DAGLB-L456Vhomozygous0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ALX4-P102Shomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF204P-K6ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1TMC8-C418*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COG1-E453Qhomozygous0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADA-D8Nhet unknown0.030Dominant
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-G235Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NOTCH2-S220Rhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NOTCH2-P152Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NOTCH2-A21Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NOTCH2-P6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1CYP1B1-N453Shomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PCSK9-G670Ehet unknown0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1OCA2-I722Thet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SYNE2-R1393Whet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests
1SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
1SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
1SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
1SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
1SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1SYNE2-N3130Shet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
1SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
1SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1SYNE2-N3982Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests
1SYNE2-P4912Ahet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
1SYNE2-E4913Khet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.251 (possibly damaging), Testable gene in GeneTests
1SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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-A206Vhet unknown0.213Unknown
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
1DGKK-D1111Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1NHLRC1-P111Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), 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
1RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
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
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1ZNF480-IH252S*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1CHIT1-V357V*homozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.75AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thomozygous0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCG3-S125Nhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.655 (possibly damaging), Testable gene in GeneTests
0.5DUOX2-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
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNFRSF13B-P251Lhomozygous0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB1-A961Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF597-L199Vhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PIF1-I640Nhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PIF1-E49*het unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HERC1-E3722Dhet unknown0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HERC1-S3152Fhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5HERC1-G1696Ahet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LITAF-I92Vhomozygous0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCI-P55Lhet unknown0.051Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ONECUT1-P75Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HS1BP3-A388Thomozygous0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5HS1BP3-P348Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5HS1BP3-V260Mhomozygous0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OTOF-EASMI618PASIShet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chomozygous0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5LILRA1-S153Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-GE261WGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRA1-V387Lhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NLRP12-C873Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NLRP12-I865Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5NLRP12-G39Vhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-T91Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNC3-R107Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNC3-VRHETY97GRHETNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF432-R533Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-M1852Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5TTN-A32687Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E32681Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-K1201Ehomozygous0.731Unknown
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
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2100Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-S136Chomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPT10-E156Khet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN4A-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
0.5ABI3-R44Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABI3-F209Shomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBKBP1-P189Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SLFN13-K658Nhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLFN13-E652Khet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN13-S235Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.888 (probably damaging)
0.5CCL14-S25Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5DHX58-N461Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BRCA1-S1634Ghomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARHGAP11A-V410Ihet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.325 (possibly damaging)
0.5UNC13A-A1220Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A447Thomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIRREL2-A170Thet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIRREL2-V353Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.873 (probably damaging)
0.5KIRREL2-K591Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR62-L850Shet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-M1134Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhet unknown0.749Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGLN2-S58Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.87 (probably damaging)
0.5ICAM1-K469Ehomozygous0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP76-G203Rhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5LAMA3-N2815Khomozygous0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1632-S1083Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5KIAA1632-V1058Ahet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.439 (possibly damaging)
0.5KIAA1632-E844Dhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L59Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shomozygous0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM1-V1395Ihet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-N1229Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-Q502Rhet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-A908Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-D2106Ehet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-F2116Lhet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-G3780Rhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OBSCN-H4381Rhet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-R4516Whet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.65 (possibly damaging)
0.5OBSCN-S4642Chet unknown0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-D4962Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-L5269Vhet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5OBSCN-Q5891Ehet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EXO1-N279Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5EXO1-H354Rhet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.119 (benign)
0.5EXO1-E670Ghomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5EXO1-R723Chomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.512 (possibly damaging)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E478Dhet unknown0.011Dominant
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.56 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IER5-P285Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-L159Vhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CR1L-R116Ghet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-R128Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5CR1L-N402Dhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CR1L-L491Phet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-L2153Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-D1370Ghomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G447Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5FANK1-L329Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5CYP2C8-I264Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.951 (probably damaging)
0.5CDHR1-H53Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-L152Phet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PPYR1-A99Shet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
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
0.5CHAT-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
0.5CEP350-R892Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CEP350-E945Qhet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5CEP350-T1446Ahet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.197 (benign)
0.5TOR1AIP1-P276Rhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5TOR1AIP1-Q293Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPATA6-C478Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5SPATA6-E228Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5GJB4-C169Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5SYTL1-G365Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SYTL1-Q444Rhomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A4071Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-QY2308PDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNKSR1-P284Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5SYDE2-V1157Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-V569Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-S422Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5SYDE2-Q175Phet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBP1-T349Shet unknown0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBP1-S213Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5S100A7A-R23Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5RHBG-V143Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DARC-G42Dhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DARC-R89Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DARC-A100Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5NGF-A35Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BCAR3-F6Yhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ABCA4-N1868Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests
0.5SNX7-F250Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GNAT2-L107Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.704 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAV2-Q468Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NAV2-P1054Ahomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAV2-G1065Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NAV2-R2142Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-K457Nhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5CSNK1A1L-R170Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CSNK1A1L-D42Ehet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FNDC3A-T1017Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-V7Lhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-V245Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NCOR2-P2008Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NCOR2-A2007Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SGCG-R116Hhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA3C-V75Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACIN1-S478Fhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.981 (probably damaging)
0.5ACIN1-S467Phet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhet unknown0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-E281Delhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MAGEL2-L448Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-K231Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.07 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-H376Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR89-G112Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5WDR89-R103Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5WDR89-R100*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5WDR89-A99Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5WDR89-R77Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5WDR89-P70Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSP90B1-P321Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5STAB2-D2021Nhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TRPC6-P15Shet unknown0.061Unknown
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
0.5EXPH5-N1967Dhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-L853Phet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-S676Nhet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-V525Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXPH5-H523Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXPH5-R328Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EXPH5-R19Ghomozygous0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FZD4-P168Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.186 (benign), Testable gene in GeneTests with associated GeneReview
0.5FZD4-P33Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.205Unknown
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
0.5PRR5L-A41Thomozygous0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5PRR5L-T139Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5ROM1-V138Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TM7SF2-A119Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TM7SF2-T299Ihet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TM7SF2-TI328PShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALNT3-R992Hhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5COL2A1-V1331Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLL2-A2925Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-L2245Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANKRD52-S1061Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CEP290-R1237Hhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.073 (benign), Testable gene in GeneTests with associated GeneReview
0.5B4GALNT1-G172Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5B4GALNT1-L35Vhomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5KIF21A-G614Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T665Ihet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.712Unknown
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-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5A2ML1-D850Ehomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-R1122Whet unknown0.304Unknown
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
0.5SLCO1B1-N130Dhomozygous0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B1-P155Thomozygous0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
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)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
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
0.5ITGB5-FNK790Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB5-E80Qhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5FLT4-R1324Lhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLT4-R1321Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRM6-M712Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-I59Vhet unknown0.606Unknown
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
0.5GEMIN5-R682Qhomozygous0.837Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5GEMIN5-R319Ghet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5SGCD-R96Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TNXB-Q3804Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ELOVL4-E272Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5EPB41L2-E998Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRERF1-D1187Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5PRPH2-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
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5MANBA-T701Mhomozygous0.552Unknown
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
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5PRSS12-R55Thomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
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
0.5EPHA5-N81Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FETUB-R128Ghet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
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-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBXL21-N31Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL21-H76Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB2-L493Phet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.973 (probably damaging)
0.5PCDHB2-G760Ehet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.256 (possibly damaging)
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5SLCO6A1-A27Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5HEATR7B2-L1179Phomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-N918Khomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-R526Hhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.947 (probably damaging)
0.5HEATR7B2-V496Ihomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-R330Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5HEATR7B2-W191Qhomozygous0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-D38Ehomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-K722Ehet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5BDP1-V778Mhomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5BDP1-G1122Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5BDP1-G1180Shomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-F1244Ihomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-I1264Mhomozygous0.775Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V1347Mhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-K1469Ehomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5BDP1-I2013Lhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP3B1-V999Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5EYA4-G277Shomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), 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-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PTGS1-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
0.5SETX-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
0.5TTF1-A885Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTF1-R401Qhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests
0.5CDK5RAP2-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
0.5DFNB31-H752Qhomozygous0.994Unknown
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
0.5TOPORS-S25Whet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL15A1-R163Hhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5COL15A1-M204Vhomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL15A1-P705Lhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-V276Mhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F215Ihet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-R198Chet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-H63Rhet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARR3-S299Chet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FRMD7-R468Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAGEB6-R98Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.766 (possibly damaging)
0.5MAGEB6-A100Vhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign)
0.5DBH-A318Shet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5BRD3-K435Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.897 (probably damaging)
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5MOSPD2-S240Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5GLIS3-P456Qhet unknown0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLIS3-S424Phomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLIS3-G313Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-M1974Thet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF273-H256Nhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5ZNF273-E461Dhet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.174 (benign)
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5NPSR1-N107Ihomozygous0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NPSR1-C197Fhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NPSR1-S241Rhet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-R3587Hhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPY-L7Phet unknown0.028Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.137 (benign)
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A2-P549Ahomozygous0.798Unknown
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-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO5A1-R375Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SLCO5A1-L33Fhet unknown0.510Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XKR9-L222Fhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.3 (possibly damaging)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLL3-P860Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5MLL3-W858Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5MLL3-I707Thet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLL3-L687Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5MLL3-R526Phet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLL3-L291Fhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-L16Fhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZAN-S690Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZAN-I691Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZAN-T693Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZAN-T1650Khet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZAN-L1698Phet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-P1878Shomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-C1903Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZAN-A2131Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZAN-V2394Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZAN-W2429Rhomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZAN-G2669Ahet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thomozygous0.239Unknown
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
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-I94Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOR-M1Thet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.946 (probably damaging)
0.5OTOR-L31Phet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.974 (probably damaging)
0.5TNS1-V1604Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-P1202Shet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-W1197Rhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-R1004Whet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-I311Mhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FYCO1-R1140Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FYCO1-E994Khet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5FYCO1-R615Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5FYCO1-R250Qhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATIC-T116Shomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5COL6A3-T3069Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-K1754Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DCBLD2-I144Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1454Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.702Unknown
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
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-R492Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CHEK2-E493Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHEK2-Y488Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANO10-R462Qhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO10-R263Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TTC21A-R1056Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTC21A-R1317Khomozygous0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTC3-M840Thomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-P1677Shet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTC3-D1751Hhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-D1005Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_015394-G45Whet unknownUnknown
not reviewed
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
0.375ATRX-N1187Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATRX-Q929Ehet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PLCE1-S1000Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IL12RB1-R283Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.375TLR1-K166Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.375KRT6B-G97Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LHCGR-N291Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LRRC50-D435Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WRN-L1074Fhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25WRN-R1406*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25C10orf68-I39VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-G388AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-K493Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf68-M510Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-V607IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AHR-R554Khet unknown0.222Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIB3-Q84Rhet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASB10-H313Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ASB10-N306Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RET-G691Shet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25GVINP1-E1126Khomozygous0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-R1104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GVINP1-S993Nhomozygous0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-H773Nhomozygous0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-Q573Rhomozygous0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-C487Yhomozygous0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-S378Fhomozygous0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-V355Mhomozygous0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-I269Mhomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-K820Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.25SLC2A10-A206Thet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAJC28-SKKKI45PKKKNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAJC28-N37Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MKKS-G532Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SON-S1224Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SON-A2413Shifthomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25SON-R2416Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PNPT1-N590Dhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PNPT1-L38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UBA1-R447Hhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25SLC16A2-S107Phet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-D46Ehet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KAL1-V534Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), 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
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HTR2C-C23Shet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25TNFRSF1B-E232Khet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ATP6AP1-RC15PAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATP6AP1-A60Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATP6AP1-TS69NChet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PTCHD2-G182Shomozygous0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PTCHD2-A650Thomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTCHD2-S1337Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PTCHD2-G1342Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CLCNKB-R27Lhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKB-I419Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKB-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F9-T194Ahet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XIAP-Q423Phet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP8-D344Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBP6-A331Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.19 (benign)
0.25GBP6-L344Fhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GBP6-E351Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GBP6-M355Vhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GBP6-D520Vhomozygous0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-G2939Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.174 (benign), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FER1L6-V1030Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FER1L6-D1110Ehet unknown0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FER1L6-L1681Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25TRPM6-V1393Ihet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25FAM75D5-K40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM75D5-H96Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTPN22-W620Rhet unknown0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25THNSL2-G41Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THNSL2-K354*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAAT-R201Phet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25GBA-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
0.25SLC22A2-S270Ahet unknown0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), 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
0.25HEXA-I436Vhet unknown0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SDHA-V657Ihet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests
0.25DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.25DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DNAH5-H12Qhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), 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
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TSHR-E727Dhet unknown0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHE-N363Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IGHE-K6Qhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPAP1-R582Ghet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.25RPAP1-R429Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ROBO1-G674Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ROBO1-V572Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR3C2-V180Ihet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25PDE6B-R98Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PDE6B-V320Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HTT-T1720Nhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25ERBB2-G346Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ERBB2-P1170Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25NPEPPS-G322Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT10-H487YGGGSSGGGYhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC2A9-P350Lhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25MINK1-R442Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MINK1-V771Ahet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACSM2A-W120*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ACSM2A-N463Dhomozygous0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCLT1-W591Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCLT1-S441Chomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IRX5-P255Thomozygous0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25IRX5-R269Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FBF1-LRL956TGVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FBF1-E767Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FBF1-S458Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FBF1-R151Ghomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25FBF1-G65Vhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR6-T756Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25ADH1B-H48Rhet unknown0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C19orf45-D256Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C19orf45-Y396Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C19orf45-P497Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C19orf45-L500Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25MUT-A499Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEKHG2-Q1288Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLEKHG2-P1329Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-H1048Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25PCNT-R3245Shomozygous0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IQCE-Y140Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IQCE-L666Vhomozygous0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IQCE-T690Mhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25IGSF9B-S892Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IGSF9B-D884Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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)
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GYS2-Q655Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25CD3EAP-K259Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD3EAP-K373Ehet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD3EAP-D394Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25RRP1-C198Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RRP1-K326Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C14orf21-S308Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf21-E461Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TBC1D9B-K1119Thet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TBC1D9B-V25Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25CASP10-L522Ihet unknown0.439Unknown
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)
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CYP2D6-T486Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C14orf135-V177IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf135-E833*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S408Ahet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NM_014727-P506Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_014727-D2361Ghet unknown0.576Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIM15-E84Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.553 (possibly damaging)
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-Y1512Chet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25IRS2-G1057Dhet unknown0.233Unknown
protective
Low clinical importance,
uncertain
a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003).
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
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0GLDC-K872*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0RYR2-G1886Shet unknown0.061Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0SHH-L4Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,659,439,797 bases (93.9% of callable positions, 88.0% of total positions)

Coding region coverage: 30,680,176 bases (92.4% of all genes, 93.4% 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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