hu2A9A49 - GET-Evidence variant report

Variant report for hu2A9A49

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1MYBPC3-R502WHighWell-establishedWell-established pathogenic

Dominant, Heterozygous
Reported by ClinVar to cause hypertrophic cardiomyopathy (https://www.ncbi.nlm.nih.gov/clinvar/variation/42540/). In ClinVar this variant is reported as "pathogenic" by eight sources, including GeneDx, Invitae, the Stanford Center for Inherited Cardiovascular Disease, and the Laboratory for Molecular Medicine (Partners HealthCare). This last source provided seven publications supporting this classification (https://www.ncbi.nlm.nih.gov/pubmed/20031618,20378854,16199542,15519027,12707239,19574547,18809796). This variant is quite rare according to ExAC data, consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/11-47364249-G-A).1
2MYO1A-G662EModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.0257483Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss.1
3HFE-C282YLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0494516This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition.1
4MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
5MBL2-G54DLowLikelyLikely pathogenic

Recessive, Homozygous
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
6FCGR2B-I232TLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.132664A study in an Asian population associates this variant with increased susceptibility to anti-glomerular basement membrane antibody disease (anti-GBM), an autoimmune disease that causes bleeding, lung, and kidney disease. Even for carriers of this variation, anti-GBM is quite rare -- this variant only increases absolute risk for the disease by 0.1-0.2%. A much weaker finding seems to correlate homozygosity for the variant with increased risk for systemic lupus erythematosus (SLE); if true, the amount of increased risk due to the variant is unclear.1
7WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
8TLR5-R392XLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0439673This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.1
9RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
10TGIF1-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
11HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
12SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
13TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
14NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
15CFH-V62ILowLikelyLikely protective

Complex/Other, 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
16KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
17MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
18NEFL-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
19PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
20PKHD1-I3905NLowLikelyLikely benign

Unknown, Heterozygous
0.048615Presumed benign, allele frequency contradicts severe pathogenic effect.1
21PKHD1-V3960ILowLikelyLikely benign

Unknown, Heterozygous
0.0128277Probably benign, reported as a nonpathogenic polymorphism found in controls.1
22OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
23CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
24MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
25F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
26ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
27APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
28CD19-R514HLowUncertainUncertain benign

Unknown, Heterozygous
0.0482432Presumed benign.1
29FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
30F5-D2222GLowUncertainUncertain benign

Unknown, Heterozygous
0.0448968Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.1
31TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
32SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
33RP1-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
34PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
35TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
36TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
37TYR-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
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31312415 / 33282720 = 94.08%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.2139133268165548256138955553-955753, 957584-957842, 970657-970704, 976045-976260, 976553-976777, 976858-976884, 976891-976991, 977020-977082, 977336-977371, 977404-977436, 977459-977532, 978619-978632, 978656-978662, 978665-978666, 978675-978746, 978756-978830, 978919-979076, 979092, 979095-979112, 979213, 979219, 979258-979283, 979308-979403, 979489-979563, 979570-979573, 979575-979618, 979634, 979714-979747, 979772-979819, 980541-980573, 980585-980657, 980767-980769, 980774-980790, 980815-980841, 980856-980872, 980890-980903, 981120-981166, 981179-981227, 981243, 981249-981256, 981344-981371, 981383-981431, 981441-981453, 981458, 981548-981589, 981618-981641, 981778-981790, 981802-982007, 982021-982026, 982058-982115, 982200-982337, 982707-982708, 982720-982834, 982953-983065, 983156-983275, 983392-983490, 983519-983550, 983556-983745, 984247-984439, 984616-984789, 984795-984831, 984954, 984963-985006, 985036-985071, 985080-985127, 985146-985175, 985283-985285, 985292-985362, 985379-985417, 985613-985656, 985664-985699, 985709, 985807-985808, 985843-985891, 985898-985904, 985913, 985923-985925, 985939-985940, 985952, 985958-985962, 985965-985971, 986106-986112, 986119-986177, 986191-986217, 986633-986643, 986657-986679, 986683-986693, 986703-986749, 986833-986890, 986905, 986924, 986928-986932, 986978, 986983, 987003-987025, 987108-987112, 987117-987119, 987137-987173, 987190-987195, 989173-989220, 989237, 989241, 989248, 989314, 989853-989895, 990207, 990210-990256, 990299-990319, 990326, 990345, 990353
2GABRD10.37380426784485113591950863-1950930, 1956418-1956446, 1956462-1956493, 1956774, 1956814-1956823, 1956835-1956838, 1956957-1957007, 1957053-1957083, 1957099-1957104, 1957111-1957118, 1957124-1957125, 1957142, 1957147, 1957153-1957163, 1957170-1957177, 1959016, 1959069-1959087, 1959594-1959642, 1959673-1959696, 1959705-1959720, 1960558-1960559, 1960571-1960619, 1960637, 1960660-1960693, 1960705, 1960990-1961026, 1961044-1961083, 1961095-1961102, 1961111-1961145, 1961167-1961201, 1961422-1961519, 1961530-1961559, 1961583-1961632, 1961642-1961664, 1961686-1961721
3PEX1010.534148827726814579812337228, 2337231-2337242, 2337923-2337976, 2338041-2338058, 2338159-2338208, 2338222-2338226, 2338250-2338297, 2338305-2338307, 2338321-2338322, 2339896, 2339995-2340041, 2340091, 2340111-2340112, 2340155-2340161, 2340174-2340175, 2340184-2340208, 2340213-2340214, 2340264-2340283, 2341810-2341825, 2341831, 2341863-2341890, 2343830-2343941
4NPHP410.886475122634948642815923950-5923967, 5924454-5924456, 5925183-5925197, 5925319-5925324, 5927896-5927900, 5934557-5934596, 5934666-5934673, 5934709-5934717, 5934949-5934955, 5935034-5935040, 5935047, 5935066, 5935069-5935070, 5935074-5935084, 5935109-5935112, 5935130-5935141, 5935147-5935156, 5937245-5937251, 5947361-5947416, 5947435-5947437, 5947459-5947474, 5947494-5947519, 5950963-5950973, 6021894-6021897, 6027359-6027363, 6029267, 6029302-6029310, 6038330-6038473, 6046225-6046268, 6046342
5ESPN10.6144249512670698925656485016-6485057, 6485067-6485309, 6488299-6488346, 6488372-6488392, 6488426-6488432, 6488460-6488479, 6500386-6500407, 6500413-6500500, 6500686-6500802, 6500826-6500868, 6500994-6501013, 6501032-6501034, 6501044, 6505725-6505738, 6505776-6505798, 6505845-6505860, 6505885-6505895, 6505931-6505937, 6508702-6508704, 6508727, 6508730-6508734, 6508743, 6508746, 6508784, 6508825-6508857, 6508882-6508888, 6508922-6508965, 6509033-6509039, 6509054-6509086, 6509139-6509145, 6511676-6511709, 6511907-6511942, 6512127-6512156
6PLEKHG510.9241141423643824231896527969-6527970, 6528012, 6528180, 6528249-6528259, 6529183-6529185, 6529706, 6529714-6529717, 6529720, 6530335-6530339, 6530702-6530703, 6530849-6530850, 6530853-6530871, 6530934-6530936, 6531081-6531109, 6531150, 6532643-6532662, 6533408-6533411, 6534103-6534150, 6534511-6534547, 6534553-6534580, 6535143, 6535146, 6535526, 6535544, 6556618-6556629, 6557380-6557383
7PEX1410.85802469135802161113410683137, 10684436-10684460, 10684468, 10684484, 10687329-10687331, 10687361-10687369, 10687411-10687412, 10687419, 10689672-10689694, 10689697, 10689738-10689751, 10689754, 10689785, 10689799, 10689841, 10689845-10689846, 10689851-10689860, 10689864-10689866, 10689923, 10689927-10689928, 10689971, 10689986-10690016, 10690019-10690044
8TARDBP10.9670682730923741124511082322-11082362
9MASP210.84036875303251329206111090233, 11097853-11097856, 11102932-11102934, 11102959-11103008, 11103056-11103067, 11103071-11103075, 11103079, 11103406-11103417, 11103449-11103450, 11103455, 11103462-11103469, 11103476, 11103492-11103507, 11103533-11103574, 11103580-11103592, 11105465-11105484, 11105555, 11105566, 11105569-11105575, 11105593-11105596, 11106634, 11106700, 11106752-11106790, 11106948-11106967, 11106978-11107013, 11107082, 11107126-11107135, 11107138, 11107166-11107176, 11107260-11107264
10MTHFR10.995433789954349197111854554, 11854852-11854859
11PLOD110.9885531135531125218412014887-12014892, 12024826-12024833, 12025598, 12025631-12025632, 12030866-12030873
12MFN210.9956024626209310227412067250-12067259
13CLCNKA10.64922480620155724206416349135, 16349162-16349176, 16351275, 16352652-16352690, 16353055-16353085, 16353088, 16353246, 16353250, 16354323, 16354381-16354397, 16355256-16355257, 16355282-16355289, 16355301-16355340, 16355633, 16355658-16355676, 16355715, 16355723-16355737, 16355742, 16355791, 16356245-16356251, 16356460-16356512, 16356519-16356570, 16356958, 16356963-16356964, 16356989-16356990, 16356995-16356999, 16357013-16357125, 16357142-16357150, 16357155-16357156, 16357163, 16358205-16358213, 16358245-16358285, 16358292-16358338, 16358698-16358786, 16358938-16358980, 16359001-16359021, 16359742-16359744, 16360106-16360117, 16360137-16360152
14CLCNKB10.75436046511628507206416371051-16371074, 16372053-16372060, 16372071-16372105, 16372162-16372172, 16373030-16373031, 16373047, 16373063, 16373124, 16373128-16373138, 16374533, 16375048-16375050, 16375644-16375664, 16376392, 16376395-16376397, 16377018-16377021, 16377037-16377044, 16377392-16377397, 16377462-16377465, 16377491-16377496, 16377536-16377543, 16377979-16378004, 16378205-16378234, 16378256-16378261, 16378264-16378281, 16378309-16378315, 16378717, 16378726-16378727, 16378741-16378832, 16378841-16378847, 16378860-16378882, 16378898-16378906, 16380134-16380135, 16380202, 16380209-16380215, 16380243, 16381973-16381975, 16381988-16382018, 16382170-16382181, 16382228-16382253, 16382956-16382958, 16382961, 16382995-16383000, 16383364-16383387, 16383396-16383405
15ATP13A210.91363251481795306354317312733-17312734, 17312739-17312747, 17312768, 17312797-17312813, 17312997, 17313007, 17313064, 17313313, 17313365-17313405, 17313435, 17313446, 17313544-17313561, 17313594-17313628, 17313631-17313638, 17313654, 17313660, 17313664, 17313675, 17314701, 17314710-17314715, 17314874, 17314930-17314947, 17314950, 17318300, 17318319, 17318572, 17318575, 17318757-17318761, 17318806-17318807, 17318810-17318813, 17318816, 17319011, 17320264-17320286, 17322563-17322610, 17322618-17322621, 17322624-17322628, 17322917-17322924, 17323524-17323526, 17323555-17323566, 17323595-17323600, 17323655, 17326568, 17326617-17326625, 17326768
16ALDH4A110.9734042553191545169219209832-19209834, 19211975-19211977, 19211979-19211980, 19212984-19213003, 19215885, 19215893, 19216528-19216537, 19216541, 19216590, 19228995-19228997
17ALPL10.9904761904761915157521890607-21890609, 21896809-21896818, 21896829, 21900171
18HSPG210.93435033394058651317622149809-22149829, 22149850-22149860, 22149889-22149911, 22149930, 22149958-22149981, 22150150-22150191, 22150622-22150647, 22150696-22150697, 22151035-22151041, 22151062-22151091, 22151200-22151232, 22151247-22151272, 22154405-22154412, 22154533, 22154537-22154551, 22154554-22154570, 22154586-22154589, 22154599-22154644, 22154759-22154761, 22154835-22154840, 22154845-22154846, 22155328-22155347, 22155494-22155539, 22155566-22155572, 22155877-22155881, 22155969-22155985, 22155988, 22155997-22156005, 22156010-22156012, 22156080-22156097, 22156524, 22156527-22156528, 22156533-22156534, 22157522, 22157774-22157776, 22165413-22165456, 22165901, 22166448-22166454, 22167742-22167743, 22167760, 22168043-22168048, 22168078-22168090, 22168809-22168810, 22169926-22169927, 22170665, 22172619-22172640, 22172728-22172737, 22173893-22173895, 22173964, 22174290, 22175243, 22175246, 22175386-22175398, 22176649-22176654, 22176657-22176658, 22176674, 22176950-22176973, 22176977, 22178094-22178109, 22178333-22178339, 22178402-22178407, 22178411, 22178616, 22181124-22181125, 22181350, 22181420-22181428, 22181803, 22181806-22181807, 22181811, 22181818, 22182046-22182061, 22186061-22186064, 22186150, 22186153-22186158, 22186417-22186418, 22186710-22186728, 22199138-22199158, 22199512-22199530, 22211099, 22211139-22211155, 22263648-22263710
19WNT410.87689393939394130105622456135-22456183, 22456317, 22456328-22456330, 22469339-22469415
20RPL1110.99068901303538553724019184, 24019227, 24020334-24020336
21HMGCL10.9959100204499497824151851-24151854
22FUCA110.84939329050678211140124194446-24194486, 24194507-24194548, 24194602-24194648, 24194676-24194681, 24194689-24194693, 24194696-24194700, 24194709-24194773
23LDLRAP110.99892125134844192725889632
24SEPN110.88429256594724193166826126722-26126904, 26135211-26135215, 26135598-26135600, 26136294, 26139263
25KCNQ410.90900383141762190208841249766-41249825, 41249834, 41249849-41249888, 41249919-41249964, 41250003, 41250006, 41250030-41250043, 41284247-41284260, 41284288-41284300
26LEPRE110.9800995024875644221143232364-43232397, 43232616-43232625
27SLC2A110.9878296146044618147943424305-43424322
28POMGNT110.9944528492183611198346660229-46660235, 46661557-46661558, 46661563, 46662729
29STIL10.999482803206622386747735431-47735432
30DHCR2410.9864603481624821155155352601-55352612, 55352784-55352792
31PCSK910.93987493987494125207955505549-55505550, 55505553-55505555, 55505558, 55521666-55521702, 55521736-55521748, 55521757-55521761, 55521815-55521859, 55523724-55523730, 55524203-55524204, 55524237, 55524270-55524278
32DBT10.9993098688750911449100696362
33COL11A110.99450247388675305457103364222, 103364244-103364272
34VANGL110.9987301587301621575116226652, 116227970
35NOTCH210.9970334412082227416120539778-120539784, 120539936, 120547962-120547968, 120548025, 120572609-120572610, 120612003-120612005, 120612019
36PRPF310.9956140350877292052150315904-150315911, 150315919
37FLG10.87698998851141149912186152276149, 152276296, 152276303, 152276375-152276389, 152276444, 152276456-152276493, 152276544-152276550, 152276553, 152276579-152276648, 152276656-152276702, 152276772, 152276867-152276892, 152277011-152277058, 152277072-152277109, 152277160-152277182, 152277225-152277260, 152277342-152277348, 152277428-152277445, 152277520, 152277693-152277720, 152277881-152277887, 152278027, 152278306, 152278402-152278403, 152278552-152278558, 152278665-152278692, 152279357-152279384, 152279495-152279530, 152279563-152279579, 152279612-152279637, 152279660-152279679, 152279718-152279763, 152279778-152279805, 152279838-152279851, 152280081-152280087, 152280143-152280194, 152280329-152280350, 152280468-152280474, 152280556-152280562, 152280570-152280617, 152280643-152280674, 152280682-152280694, 152280736, 152280759, 152280782, 152280861-152280903, 152281562, 152281644-152281646, 152281665-152281700, 152281870-152281878, 152281910-152281913, 152282128-152282135, 152282145-152282194, 152282244-152282247, 152282250-152282254, 152282285-152282329, 152282482-152282488, 152282523, 152282527, 152282534, 152282682-152282688, 152282757-152282773, 152283001-152283008, 152283062-152283110, 152283249-152283251, 152283255, 152283259, 152283264-152283265, 152283364-152283380, 152283524-152283549, 152283669-152283699, 152283882, 152283941-152283989, 152284122-152284155, 152284167-152284190, 152284235-152284247, 152284478, 152284549, 152284603-152284613, 152284912-152284918, 152285000-152285074, 152285099, 152285450-152285483, 152285601-152285607, 152286811
38GBA10.9983291562238921197155184367, 155184381
39PKLR10.9982608695652231725155269990-155269992
40LMNA10.97142857142857571995156108285-156108300, 156108308-156108347, 156108381
41SEMA4A10.99387576552931142286156131153-156131166
42NTRK110.97448766206608612391156830787, 156830791-156830798, 156830819, 156843462-156843477, 156844175-156844177, 156845424-156845429, 156846206-156846209, 156848995, 156849861, 156851318-156851325, 156851328-156851333, 156851428-156851433
43F510.99775280898876156675169510233, 169510345-169510351, 169510480-169510486
44HMCN110.99988171279868216908185892638, 186052024
45CFH10.99648268398268133696196682903-196682908, 196716389-196716395
46CFHR110.9818731117824818993196797200-196797207, 196799675-196799682, 196801042, 196801078
47CFHR510.9988304093567321710196963210-196963211
48ADCK310.811213991769553671944227149088, 227152705, 227152714-227152723, 227152751, 227152796-227152827, 227152851-227152861, 227152942-227152998, 227153002, 227153021-227153051, 227153070-227153111, 227153380-227153392, 227153419-227153430, 227169728-227169736, 227169767, 227169769-227169794, 227170708-227170719, 227170727-227170730, 227171269-227171287, 227171468, 227171486, 227171795-227171802, 227171891-227171915, 227172253-227172261, 227172969-227172982, 227174316-227174325, 227174401-227174415, 227174436
49GJC210.485606060606066791320228345596-228345599, 228345607, 228345620, 228345645-228345667, 228345670-228345671, 228345674-228345675, 228345746-228345791, 228345798-228345805, 228345825-228345937, 228345959, 228345968-228345969, 228346002-228346071, 228346092-228346107, 228346139-228346151, 228346187-228346223, 228346246-228346247, 228346251-228346253, 228346262-228346271, 228346279-228346328, 228346341-228346383, 228346394, 228346398-228346497, 228346534, 228346537-228346609, 228346619-228346620, 228346633-228346636, 228346661-228346689, 228346704-228346725
50ACTA110.94356261022928641134229567469, 229567824, 229567884-229567890, 229567914-229567932, 229568038-229568048, 229568085-229568087, 229568120, 229568130-229568132, 229568158-229568163, 229568167-229568178
51LYST10.99982465369104211406235897800-235897801
52ACTN210.9966480446927492685236850024-236850031, 236850047
53RYR210.998389694041872414904237821260-237821283
54OPTN100.991926182237614173413151244-13151256, 13151274
55PTF1A100.914893617021288498723481460-23481463, 23481645-23481650, 23481656-23481658, 23481719-23481760, 23481767-23481783, 23481878-23481881, 23481896-23481897, 23481899-23481903, 23482141
56MYO3A100.999587713873432485126500880-26500881
57MASTL100.999241562381492263727459110-27459111
58RET100.90134529147982330334543572707-43572779, 43595907-43595925, 43595956, 43595961, 43595964, 43595968, 43596000, 43596059, 43596114, 43597930-43597943, 43597993, 43598025, 43600411-43600418, 43600502-43600529, 43600560-43600562, 43600578-43600583, 43600592-43600628, 43601833-43601858, 43601934, 43602018-43602019, 43604542, 43604548-43604550, 43606656, 43606687, 43606706-43606710, 43606847-43606860, 43606897-43606906, 43607547-43607562, 43607600-43607601, 43609078-43609101, 43609976, 43609988, 43609994, 43610011, 43610131-43610141, 43610164, 43613834, 43615025-43615029, 43615072-43615074, 43615157-43615158
59ERCC6100.999776885319051448250738810
60CHAT100.9933244325767715224750822274, 50822282-50822283, 50822354-50822361, 50822367, 50822370-50822371, 50822373
61PCDH15100.9940567159110235588955839135-55839169
62NODAL100.9789272030651322104472201312, 72201322, 72201331-72201332, 72201371-72201388
63PRF1100.991007194244615166872358257-72358261, 72358264-72358273
64SLC29A3100.999299719887961142873079067
65CDH23100.985680190930791441005673439198-73439209, 73442237-73442248, 73455273, 73455277, 73462418, 73464698, 73464701, 73464704, 73464766-73464795, 73464798-73464803, 73464863-73464887, 73468932, 73491925-73491927, 73537495-73537511, 73537545, 73550107-73550113, 73550117, 73550123, 73550147, 73550161-73550162, 73550168-73550170, 73550903, 73550973, 73551021-73551026, 73551082-73551084, 73551088, 73571713-73571714, 73574848, 73574851
66PSAP100.9936507936507910157573579542, 73579547-73579555
67LDB3100.9917582417582418218488466348, 88476089-88476093, 88476277-88476288
68BMPR1A100.999374609130711159988683146
69GLUD1100.93858079904592103167788854249-88854250, 88854277, 88854380-88854421, 88854442-88854453, 88854455-88854456, 88854483-88854526
70PTEN100.99834983498352121289720651-89720652
71HPS1100.96866096866097662106100177338-100177349, 100177368-100177421
72FBXW4100.9943502824858871239103454285-103454291
73HPS6100.99570446735395102328103825443-103825446, 103825449, 103825536, 103825699, 103825742, 103825782-103825783
74SUFU100.9958762886597961455104263997-104264001, 104264091
75COL17A1100.99243435692034344494105816897-105816930
76EMX2100.9841897233201612759119302947, 119302958, 119302989-119302998
77BAG3100.999421296296311728121411328
78HTRA1100.808038808038812771443124221169-124221262, 124221273-124221295, 124221297-124221304, 124221341, 124221352-124221353, 124221362-124221408, 124221418-124221424, 124221433, 124221435-124221445, 124221459-124221463, 124221473-124221542, 124221614-124221621
79UROS100.996240601503763798127477437-127477439
80HRAS110.70175438596491170570532669-532740, 533483, 533490-533505, 533533-533535, 533556, 533562, 533568-533570, 533600-533612, 533781, 533820, 533871, 533884, 533928-533937, 534228-534265, 534308-534315
81TALDO1110.92406311637081771014747482-747495, 747518-747543, 747567-747568, 747572, 763344, 763358-763362, 763366, 763373-763374, 763379-763395, 763448-763454, 764406
82SLC25A22110.45164609053498533972791935-791959, 791979-791983, 791993-792001, 792023-792068, 792142-792143, 792173-792184, 792203, 792322, 792327-792328, 792345-792378, 792385-792425, 792449-792458, 792557, 792578-792581, 792606-792646, 792652, 792657-792665, 792671-792693, 792705-792706, 792718-792727, 792870-792882, 792909-792988, 793557, 793568-793578, 793588, 793595, 794458-794484, 794776-794846, 794869-794901, 794991-795006
83PNPLA2110.516831683168327321515819719-819905, 821652, 821694, 821698-821700, 821733-821736, 821745-821763, 821819-821828, 822479-822502, 822589, 823537, 823544-823545, 823548-823552, 823572-823587, 823729-823733, 823742-823755, 823770, 823807-823812, 823832, 823853-823855, 823998-824053, 824074-824075, 824109-824130, 824314-824362, 824369-824436, 824523-824540, 824550-824600, 824611-824621, 824628-824695, 824718-824752, 824773, 824789, 824794-824802, 824806-824808, 824829-824862
84CTSD110.5916061339790250612391774755, 1774791, 1774823-1774833, 1774848-1774855, 1774869-1774872, 1774879, 1774884-1774886, 1775033-1775045, 1775224-1775230, 1775247-1775254, 1775310-1775337, 1775343-1775368, 1778582-1778604, 1778611-1778633, 1778738, 1778741, 1778752, 1778763-1778774, 1778779-1778780, 1780199-1780286, 1780301-1780317, 1780749-1780754, 1780763-1780780, 1780795-1780800, 1780807-1780823, 1780828-1780835, 1780847-1780869, 1782539-1782553, 1782597-1782613, 1782634-1782682, 1785022-1785089
85TNNI2110.495446265938072775491861633-1861674, 1861758-1861767, 1861776-1861791, 1861793-1861825, 1861838-1861857, 1862057-1862087, 1862261-1862267, 1862281-1862324, 1862355-1862377, 1862406-1862423, 1862726, 1862750-1862781
86TNNT3110.0913770913770917067771944109-1944121, 1944785-1944802, 1946329-1946334, 1946345-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953699-1953744, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955782-1955788, 1955806, 1955810-1955837, 1955847-1955885, 1956067-1956149, 1958193-1958233, 1959668-1959722
87H19110.929038281979467610712017580-2017586, 2017748-2017772, 2017834, 2017977-2018010, 2018109-2018112, 2018358-2018360, 2018363-2018364
88IGF2110.303797468354434957112154217-2154246, 2154253-2154257, 2154268-2154284, 2154309, 2154312-2154325, 2154338-2154346, 2154350-2154415, 2154429-2154453, 2154747-2154748, 2154758-2154815, 2154831, 2154867-2154895, 2156597-2156643, 2156668-2156680, 2156690-2156714, 2156735-2156759, 2161365-2161420, 2161432-2161453, 2161461-2161510
89TH110.11809523809524138915752185463-2185622, 2186462-2186575, 2186581-2186595, 2186898-2186930, 2186939-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188206, 2188212-2188262, 2188665-2188706, 2189096-2189135, 2189145-2189163, 2189321-2189390, 2189724-2189775, 2189783-2189895, 2190880-2190915, 2190947-2190978, 2190994-2191101, 2191920-2192000, 2192927-2192932, 2192937-2192939, 2192944-2192945, 2192950, 2192979-2192981
90KCNQ1110.8079763663220139020312466329-2466674, 2466694-2466714, 2593245, 2593321-2593325, 2608812-2608814, 2608890, 2790119-2790122, 2869215-2869223
91CDKN1C110.0336487907465839199512905234-2905250, 2905262-2905298, 2905313-2905364, 2905900-2906712
92SMPD1110.993670886075951218966411931-6411942
93ABCC8110.9964180362410517474617417475-17417477, 17498220-17498226, 17498301-17498307
94WT1110.9768339768339836155432456451-32456452, 32456517, 32456587, 32456631-32456633, 32456651-32456653, 32456660, 32456720-32456723, 32456808, 32456811-32456826, 32456837, 32456848-32456850
95ALX4110.9514563106796160123644286404, 44286407, 44286597-44286613, 44286687, 44286690, 44331242-44331260, 44331268-44331274, 44331279-44331284, 44331287, 44331303, 44331309, 44331588-44331591
96SLC35C1110.9071969696969798105645827594-45827615, 45827657-45827662, 45827793-45827824, 45827860-45827862, 45832530-45832532, 45832535-45832538, 45832697-45832699, 45832726-45832731, 45832735-45832753
97PEX16110.9308357348703272104145931697, 45935754, 45935949, 45935974, 45935978-45935984, 45935996-45935998, 45937374-45937380, 45939256-45939288, 45939323-45939340
98F2110.93900481540931114186946741367-46741374, 46742354, 46744759-46744763, 46744817, 46744964, 46745011, 46745037-46745041, 46747506-46747508, 46747511, 46747602-46747607, 46747615-46747630, 46747635, 46747639-46747641, 46747671-46747674, 46748166-46748169, 46748172, 46748300, 46750364-46750370, 46751065-46751109
99MYBPC3110.9749019607843196382547367835, 47367839, 47367889-47367893, 47367896, 47367900-47367906, 47369975, 47370036-47370042, 47371343, 47371577-47371584, 47372053-47372077, 47372095, 47372102-47372109, 47372122-47372150, 47372985
100SLC39A13110.996415770609324111647433918, 47435991, 47436426, 47436429
101RAPSN110.9814366424535923123947459528-47459537, 47460296, 47460305-47460306, 47469542-47469548, 47469695, 47470372, 47470452
102SERPING1110.9673985362608149150357367553-57367601
103TMEM216110.98484848484848426461165331, 61165334-61165335, 61165344
104BEST1110.9903299203640517175861722642-61722648, 61723272-61723281
105SLC22A12110.53128760529483779166264359029-64359045, 64359086-64359111, 64359142-64359145, 64359161-64359169, 64359178, 64359181, 64359286, 64359290, 64359303-64359323, 64359332-64359370, 64359382, 64359404, 64359410-64359414, 64359418-64359420, 64359424-64359430, 64360251-64360289, 64360297-64360342, 64360353, 64360877-64360900, 64360906-64360945, 64360957-64360994, 64361003-64361031, 64361111-64361126, 64361175, 64361185, 64361197-64361217, 64361229-64361242, 64361258, 64361269-64361275, 64365998-64366002, 64366007, 64366047, 64366055-64366080, 64366283, 64366287, 64366292-64366293, 64366306, 64366309-64366314, 64366320-64366333, 64366353, 64366362, 64366369, 64366378-64366380, 64367148-64367362, 64367839-64367853, 64367856, 64367916-64367920, 64367947, 64368207-64368213, 64368223, 64368235-64368287, 64368321, 64368373
106PYGM110.9758797943851361252964521025, 64521028-64521044, 64521413-64521419, 64521453-64521467, 64522305-64522308, 64527155-64527169, 64527205-64527206
107MEN1110.91396103896104159184864571828-64571840, 64571975-64571979, 64571987-64571990, 64572012, 64572072, 64572079, 64572088-64572090, 64572124, 64572170-64572172, 64572178, 64572181-64572183, 64572190, 64572235-64572271, 64572531, 64572540-64572541, 64572557, 64572580-64572582, 64573131-64573141, 64573237-64573242, 64573723-64573726, 64575024-64575034, 64575041-64575042, 64577242, 64577248-64577261, 64577360, 64577366, 64577486, 64577489-64577495, 64577505, 64577530-64577536, 64577541, 64577572-64577581
108RNASEH2C110.99393939393939349565488190, 65488228-65488229
109EFEMP2110.9406906906906979133265634522-65634526, 65635380, 65635856-65635892, 65636082, 65637417-65637422, 65637629-65637640, 65638819-65638834, 65639733
110CST6110.951111111111112245065780299-65780303, 65780314, 65780378-65780393
111SPTBN2110.9924717691342554717366468003-66468008, 66468284, 66468287, 66468294, 66468302, 66468312, 66468691, 66468735-66468741, 66472259, 66472580, 66472688, 66472765, 66472848, 66472891, 66473259, 66475127-66475130, 66475191, 66475197-66475198, 66475207, 66475210-66475213, 66475246-66475257, 66475708, 66475711, 66483308, 66483311
112PC110.9926491376873126353766618560-66618569, 66620041, 66620044, 66631283-66631285, 66639217-66639227
113CABP4110.7922705314009717282867222979-67222985, 67223073, 67223088, 67223095, 67223098-67223131, 67223140-67223141, 67223171-67223173, 67223192, 67223211, 67223239-67223257, 67223659-67223674, 67225881-67225913, 67225922-67225929, 67225936-67225954, 67225969-67225989, 67226126-67226130
114AIP110.4259818731117857099367254477-67254490, 67254551, 67256759-67256775, 67256790-67256815, 67256829-67256871, 67256906-67256913, 67257517-67257545, 67257548-67257550, 67257558-67257564, 67257569-67257572, 67257585, 67257594-67257643, 67257664-67257685, 67257790-67257928, 67258259-67258464
115NDUFV1110.994982078853057139567374516-67374519, 67374531-67374532, 67378516
116NDUFS8110.892575039494476863367799777-67799800, 67800456, 67800630-67800651, 67800666-67800680, 67800724, 67803765, 67803840, 67803973, 67804047, 67804058
117TCIRG1110.75772162053751604249367808741-67808746, 67808749, 67808790, 67810110-67810118, 67810130-67810169, 67810197-67810209, 67810214, 67810258-67810308, 67810321-67810330, 67810421-67810422, 67810456-67810476, 67810842-67810843, 67810846, 67810927-67810951, 67811038-67811072, 67811288-67811290, 67811293-67811311, 67811344-67811370, 67811373-67811374, 67811599-67811620, 67811645, 67811651-67811682, 67811693, 67811699-67811700, 67811730-67811749, 67811772, 67811775-67811783, 67811789, 67811792-67811804, 67812506, 67812513, 67812537-67812540, 67815223-67815257, 67816388, 67816548-67816587, 67816678, 67816718-67816742, 67817130-67817218, 67817249-67817255, 67817526-67817528, 67817604-67817608, 67817623-67817626, 67817633, 67817638, 67817650, 67817668, 67817710-67817721, 67818234
118LRP5110.95915841584158198484868080183-68080265, 68080272-68080273, 68131267-68131302, 68170970, 68171028-68171037, 68171130-68171131, 68207352-68207357, 68207362-68207365, 68216311-68216317, 68216427-68216470, 68216495-68216497
119CPT1A110.999569336778641232268527747
120IGHMBP2110.89503688799463313298268671468-68671494, 68696739-68696742, 68696748-68696750, 68700767-68700809, 68700853, 68700888, 68700894, 68700904-68700906, 68701299, 68701355, 68701988-68701995, 68702865-68702866, 68703768, 68703883, 68703900, 68703958-68703981, 68704053, 68704062, 68704089, 68704147-68704156, 68704245-68704282, 68704335-68704374, 68704391-68704395, 68704410, 68704515-68704556, 68705731, 68705745, 68705755, 68705796, 68707043-68707086, 68707145, 68707152-68707153, 68707157
121DHCR7110.9887955182072816142871146562, 71146650-71146661, 71146691, 71146694-71146695
122MYO7A110.699308062575211999664876858863-76858876, 76858897-76858898, 76858911-76858913, 76858963-76858988, 76867725-76867731, 76867986-76867999, 76868411-76868415, 76873201, 76873204, 76874019-76874024, 76883800-76883809, 76883818-76883827, 76883835-76883894, 76883907-76883931, 76885802-76885836, 76885846-76885851, 76885857-76885860, 76885878, 76885881-76885906, 76885915-76885918, 76885932-76885941, 76885945-76885950, 76886418-76886479, 76886489-76886493, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894198, 76895683-76895760, 76900389-76900391, 76900412-76900414, 76900433-76900442, 76900462-76900507, 76901065-76901120, 76901143-76901184, 76901744-76901784, 76901794-76901795, 76901797-76901814, 76901834, 76901840-76901872, 76901899, 76901907-76901908, 76903119-76903130, 76903163-76903174, 76903213, 76903220-76903243, 76903251, 76903254, 76903275-76903322, 76905449, 76908526-76908539, 76909567-76909573, 76909588-76909599, 76909602-76909604
123FZD4110.9876084262701420161486666050-86666058, 86666080-86666085, 86666091, 86666095-86666097, 86666101
124DYNC2H1110.998995751255311312945103029690, 103043825-103043826, 103043962-103043969, 103130664, 103130671
125ALG9110.998366013071931836111742117-111742119
126DRD2110.99699699699741332113283319-113283322
127APOA1110.9465174129353243804116706683-116706698, 116706708, 116706719, 116706724, 116706783-116706804, 116706808, 116706870
128FXYD2110.981735159817358438117693195, 117693256-117693258, 117695374-117695377
129SCN4B110.9839883551673911687118023372, 118023376-118023379, 118023383-118023388
130ROBO3110.99591444364335174161124735491, 124735500, 124735510-124735513, 124735526-124735530, 124750448-124750453
131WNK1120.999233716475111305978094
132WNK1120.99132745838579627149862784-862785, 862828-862844, 862888-862907, 862972, 862976-862978, 862988-862989, 863058-863074
133CACNA2D4120.994141769185712034141906588-1906590, 1906645-1906661
134CACNA1C120.998018594726411365612676824, 2706636-2706639, 2774116, 2794934-2794940
135VWF120.995854063018243584426131926-6131932, 6131955-6131982
136TNFRSF1A120.967105263157894513686438545-6438551, 6438596, 6438605-6438621, 6438701-6438706, 6438766-6438779
137SCNN1A120.99588477366255921876457276-6457283, 6464529
138TPI1120.956337506976731-6976743, 6976765, 6976834-6976845, 6978456-6978462
139ATN1120.99916036943745335737045892-7045894
140ABCC9120.999354838709683465021968760-21968761, 22025633
141KRAS120.977192982456141357025380196-25380208
142DNM1L120.997738579828135221132866233-32866235, 32866247-32866248
143PKP2120.998806682577573251433049560-33049561, 33049571
144LRRK2120.999604430379753758440687381, 40761538-40761539
145IRAK4120.999276934201011138344180338
146COL2A1120.9970878136200713446448398067, 48398072-48398075, 48398078-48398080, 48398100-48398104
147MLL2120.966173107018185621661449422618-49422620, 49424167, 49425070-49425083, 49425100-49425107, 49425181, 49425699, 49425771-49425810, 49425824-49425826, 49425944-49425990, 49426154-49426190, 49426381, 49426503-49426541, 49426569-49426575, 49426596, 49426627-49426632, 49426635-49426650, 49426658, 49426662, 49426710, 49426730-49426732, 49426770-49426774, 49426778, 49426964-49426965, 49427030, 49427047-49427071, 49427079-49427080, 49427139-49427155, 49427211-49427223, 49427236, 49427262-49427280, 49427286, 49427322, 49427561-49427569, 49427638-49427641, 49428036, 49430997, 49431075, 49431211-49431216, 49431283-49431301, 49431319, 49431425, 49431496-49431528, 49431557-49431561, 49431576, 49431586-49431601, 49431638, 49431675, 49431690, 49431698-49431702, 49431705-49431709, 49431712-49431713, 49431716, 49431727-49431731, 49431752, 49431764-49431765, 49431789-49431791, 49431832-49431867, 49431891-49431913, 49431990, 49431994-49431995, 49432221-49432224, 49432269, 49432566, 49433096-49433099, 49433314-49433334, 49433370-49433376, 49434050, 49434053, 49434065, 49434085, 49434097-49434110
148DHH120.984047019311519119149483706-49483713, 49483851-49483852, 49483951-49483959
149TUBA1A120.813596491228078545649522213, 49522259-49522290, 49522306, 49522310, 49522317, 49522386, 49522411, 49522442-49522471, 49522572-49522588
150KRT81120.9426877470355787151852680210, 52680215, 52681437, 52683976, 52684015-52684061, 52684928-52684939, 52685168-52685191
151KRT86120.9479808350444976146152695763-52695782, 52696019, 52696893-52696939, 52697013, 52699545-52699551
152KRT6B120.9427728613569397169552843632-52843637, 52844243, 52844246, 52844265, 52845397-52845410, 52845528-52845534, 52845571-52845604, 52845662-52845687, 52845798-52845804
153KRT6C120.966961651917456169552865295-52865300, 52865918, 52865925, 52867094, 52867187-52867193, 52867257-52867263, 52867321-52867346, 52867457-52867463
154KRT6A120.9734513274336345169552884732-52884737, 52886708-52886714, 52886772-52886796, 52886908-52886914
155AAAS120.995734308348577164153708562-53708568
156SUOX120.9987789987792163856398170-56398171
157RPS26120.99712643678161134856436255
158CYP27B1120.9921414538310412152758158819, 58158971-58158973, 58159874, 58159883, 58159887-58159892
159TSFM120.99079754601227997858176614, 58190183-58190190
160LEMD3120.998538011695914273665563400-65563403
161CEP290120.9942204301075343744088462381-88462382, 88472959-88472972, 88519023, 88520121, 88534734-88534758
162TMPO120.995683453237419208598925546-98925548, 98925552, 98927529-98927533
163UNG120.9883227176220811942109536310-109536318, 109547715, 109547721
164MMAB120.996015936254983753109998909, 109999303, 110011225
165MVK120.9974811083123431191110034250, 110034258-110034259
166TRPV4120.950305810397551302616110221431-110221450, 110221484-110221498, 110222121-110222132, 110224515-110224544, 110224623, 110226229-110226236, 110230588-110230599, 110232249-110232250, 110236460-110236461, 110236576-110236586, 110236594, 110236711-110236717, 110238511-110238512, 110238516-110238517, 110240861-110240865
167ATXN2120.828006088280066783942112036588-112036851, 112036860-112036880, 112036891-112037172, 112037202-112037300, 112037307-112037318
168SDS120.9766970618034423987113835160-113835182
169HNF1A120.937236286919831191896121416685-121416733, 121434190, 121434195-121434198, 121434348-121434370, 121434449-121434450, 121434463-121434466, 121435301-121435302, 121435330-121435333, 121435340-121435342, 121435406-121435419, 121435467-121435468, 121437376-121437379, 121437382, 121437390, 121437397, 121438903-121438906
170HPD120.9839255499154191182122285011-122285014, 122286980-122286982, 122294509, 122294513, 122295695-122295704
171EIF2B1120.998910675381261918124116984
172PUS1120.875389408099691601284132414274-132414288, 132414293-132414294, 132414314, 132414327-132414341, 132414452-132414492, 132414507-132414550, 132414607-132414612, 132414619-132414620, 132416815-132416820, 132425971-132425983, 132426086, 132426279, 132426282, 132426315-132426321, 132426342, 132426356, 132426445, 132426448, 132426475
173SACS130.9996360989810851374023913018, 23913021-23913024
174PDX1130.982394366197181585228494482-28494496
175BRCA2130.9996100224237141025732912429-32912432
176FREM2130.9930599369085266951039261568-39261575, 39261633-39261676, 39261828-39261834, 39262057-39262063
177RB1130.99677072120569278748878113-48878121
178RNASEH2B130.99787007454739293951484219, 51484221
179ZIC2130.816135084427772941599100634387-100634422, 100634454-100634462, 100634497-100634544, 100634590-100634614, 100634772-100634778, 100634806-100634820, 100634825, 100634871, 100635008-100635013, 100637301-100637302, 100637627, 100637631, 100637635, 100637646-100637658, 100637662-100637673, 100637710-100637761, 100637821-100637853, 100637862, 100637907-100637936
180COL4A1130.98702594810379655010110864765-110864779, 110959325-110959374
181F7130.319101123595519091335113760156-113760219, 113765004-113765097, 113765108, 113765116-113765122, 113765127-113765130, 113765161-113765164, 113768090, 113768215-113768240, 113768258-113768265, 113769974-113770040, 113770053-113770062, 113770070-113770111, 113771080-113771110, 113771150, 113771153-113771170, 113771787-113771794, 113771819-113771820, 113771850-113771886, 113771909-113771910, 113772727-113772829, 113772841-113772851, 113772862-113772910, 113772915-113772917, 113772924-113772926, 113772929-113772988, 113772998-113773006, 113773017-113773043, 113773066-113773088, 113773107-113773264, 113773272-113773306, 113773320
182F10130.724608043626454041467113777178-113777188, 113777193-113777194, 113777197-113777209, 113777215-113777239, 113798271-113798278, 113798339, 113798388-113798394, 113801757-113801758, 113803230-113803266, 113803300-113803310, 113803328-113803329, 113803336-113803363, 113803398-113803445, 113803458-113803481, 113803513-113803514, 113803524, 113803529-113803561, 113803565, 113803571, 113803581-113803599, 113803619, 113803652-113803656, 113803664-113803718, 113803748-113803780, 113803796-113803829
183GRK1130.866430260047282261692114321713-114321719, 114321768-114321770, 114321795-114321833, 114321855-114321862, 114321889-114321927, 114322055-114322056, 114322064-114322067, 114322093-114322105, 114322159-114322165, 114322180-114322194, 114322226-114322243, 114325816-114325823, 114325870-114325873, 114325882-114325883, 114325930, 114325933, 114325942-114325971, 114426086-114426087, 114434205, 114434208-114434209, 114435857-114435859, 114436042-114436058
184TEP1140.9979705733130416788420840948-20840949, 20843942-20843944, 20844390, 20851768-20851774, 20854712-20854714
185RPGRIP1140.9979279979288386121769196, 21771522-21771528
186PABPN1140.985884907709011392123790681-23790683, 23790687-23790695, 23790710
187MYH7140.9981060606060611580823887558-23887559, 23894067-23894072, 23899862-23899864
188NRL140.950980392156863571424550640-24550644, 24551763-24551782, 24551808, 24551812-24551819, 24551830
189TGM1140.94865525672372126245424723975-24723976, 24723981-24723986, 24724295-24724300, 24724351-24724402, 24724435-24724451, 24725240-24725252, 24727788-24727792, 24728442, 24728938, 24729874, 24731456, 24731473-24731475, 24731482-24731488, 24731491-24731493, 24731506-24731513
190FOXG1140.82857142857143252147029236624-29236626, 29236678-29236725, 29236741-29236902, 29236911-29236938, 29236946-29236956
191COCH140.995765275257117165331344270-31344272, 31344275-31344278
192CFL2140.99800399201597150135183744
193NKX2-1140.9378109452736375120636986686-36986707, 36986721, 36986738, 36986741, 36986825-36986848, 36986872-36986883, 36988364-36988365, 36988371-36988379, 36988384-36988386
194PAX9140.99902534113061102637132417
195FANCM140.998698552139258614745623970-45623975, 45650633-45650634
196C14orf104140.82975338106603428251450092639, 50100375-50100396, 50100587-50100589, 50100674-50100728, 50100764-50100780, 50100819-50100824, 50100827, 50100836, 50100845, 50100850-50100851, 50100884-50100910, 50100930-50100947, 50100972, 50100975-50100985, 50100998, 50101009-50101014, 50101067-50101101, 50101103, 50101108-50101109, 50101113-50101132, 50101233-50101266, 50101353-50101373, 50101388-50101394, 50101420-50101486, 50101525-50101563, 50101570-50101576, 50101622-50101638, 50101689, 50101698-50101701
197PYGL140.996855345911958254451410945, 51411115-51411121
198GCH1140.875166002656049475355369118, 55369130-55369142, 55369207-55369221, 55369232-55369257, 55369266-55369285, 55369289, 55369296-55369298, 55369305, 55369345-55369356, 55369360, 55369381
199VSX2140.9825046040515719108674706407-74706414, 74706456-74706466
200POMT2140.9631602308033783225377745193, 77786906, 77786910-77786940, 77786954-77787003
201GALC140.99805636540334205888459392-88459395
202ATXN3140.991712707182329108692559646-92559653, 92559656
203AMN140.0212922173274613331362103389026-103389045, 103389060, 103389064-103389068, 103390048-103390061, 103390074-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
204INF2140.3218666666666725433750105167703-105167719, 105167726, 105167730-105167763, 105167777, 105167803-105167893, 105167903-105167908, 105167911, 105167920-105167949, 105167952-105167953, 105167963-105167992, 105167997-105167998, 105168010, 105168041-105168093, 105169451-105169471, 105169496-105169511, 105169523-105169557, 105169635-105169659, 105169669, 105169672-105169673, 105169678-105169680, 105169685-105169686, 105169717-105169743, 105169757-105169784, 105170253-105170286, 105172380-105172415, 105172432-105172455, 105172467-105172498, 105173250, 105173279-105173308, 105173321-105173323, 105173330-105173379, 105173590-105173592, 105173615-105173664, 105173674-105173699, 105173701-105173807, 105173848-105174339, 105174773-105174856, 105174885-105174921, 105175008-105175033, 105175054, 105175067, 105175651, 105175678-105175680, 105175957-105175983, 105175994-105175997, 105176001-105176003, 105176014-105176016, 105176037-105176042, 105176425-105176483, 105176496-105176525, 105177274-105177285, 105177308, 105177311, 105177337-105177344, 105177416-105177433, 105177441-105177523, 105177966-105177971, 105177996-105178008, 105178024, 105178770-105178803, 105178818, 105178824-105178831, 105178838-105178857, 105178860-105178888, 105179165-105179205, 105179226-105179329, 105179550-105179563, 105179599-105179633, 105179782-105179793, 105179806, 105179816-105179856, 105179865-105179871, 105179881, 105179899, 105179910-105179943, 105180543, 105180546, 105180558-105180566, 105180575-105180576, 105180578, 105180604-105180636, 105180648-105180778, 105180821-105180847, 105180873-105180880, 105180899-105180940, 105180959-105180980, 105180983-105180997, 105181006-105181029, 105181060, 105181065-105181078, 105181084, 105181088-105181090, 105181094-105181098, 105181119, 105181122-105181149, 105181156-105181172, 105181189-105181193, 105181634-105181657
205NIPA1150.7636363636363623499023049084, 23049089-23049100, 23049104-23049111, 23049140-23049145, 23049194, 23049291-23049317, 23060892, 23086234-23086411
206UBE3A150.999619482496191262825616623
207CHST14150.9655172413793139113140763414-40763418, 40763471-40763472, 40763518-40763540, 40763823-40763827, 40764529-40764532
208CDAN1150.998914223669924368443028673-43028676
209STRC150.989301801801857532843892272, 43893072, 43896262-43896268, 43896303-43896312, 43900150-43900173, 43907745-43907751, 43910437-43910443
210STRC150.996410256410267195044007207-44007213
211CLN6150.980769230769231893668500478-68500494, 68521916
212HCN4150.89479512735327380361273615208-73615214, 73615736, 73616195-73616197, 73659849, 73660045-73660066, 73660074-73660117, 73660120-73660123, 73660126, 73660133, 73660143-73660170, 73660195-73660254, 73660271-73660275, 73660327-73660399, 73660420-73660472, 73660494-73660498, 73660522-73660554, 73660573-73660611
213PSTPIP1150.0935251798561151134125177310489-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320217, 77320239-77320255, 77320895-77320896, 77320909-77320993, 77321876-77321878, 77321897-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324681, 77324693-77324735, 77325203-77325206, 77325220-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
214POLG150.9956989247311816372089876808-89876809, 89876813, 89876816, 89876828-89876839
215MESP2150.7001675041876358119490319604-90319606, 90319648-90319703, 90319735-90319741, 90319758-90319764, 90319767-90319769, 90319799, 90319804, 90319819-90319842, 90319863, 90319867, 90319871-90319872, 90319877-90319879, 90319884, 90319897-90319942, 90319951-90319966, 90320044-90320049, 90320116-90320176, 90320208, 90320232-90320276, 90320286-90320318, 90320381-90320405, 90320458, 90320492-90320505
216BLM150.9837799717912669425491337407-91337411, 91337455-91337472, 91337527-91337569, 91337585-91337587
217VPS33B150.9935275080906112185491565410-91565421
218IGF1R150.9958576998050717410499192868-99192869, 99192874-99192888
219HBZ160.34965034965035279429202923-202929, 202956-202962, 202971-202978, 202988-202989, 203906-203940, 203956-203966, 203969-203971, 203992-204049, 204059-204085, 204091-204095, 204271-204340, 204347-204392
220HBA2160.75058275058275107429222912-222943, 222968-223006, 223190, 223193-223196, 223222-223225, 223235-223240, 223243-223255, 223260, 223314-223318, 223471-223472
221GNPTG160.789760348583881939181401967-1402018, 1402103-1402116, 1402130-1402160, 1402249-1402255, 1402264-1402307, 1411873, 1412112, 1412258-1412300
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223IGFALS160.34368530020704126819321840601-1840618, 1840624-1840673, 1840693-1840705, 1840719-1840735, 1840746, 1840759-1840853, 1840863-1840908, 1840917-1840918, 1840927-1841072, 1841078-1841086, 1841106-1841119, 1841135-1841189, 1841224-1841335, 1841344-1841347, 1841369-1841404, 1841419-1841473, 1841493, 1841497-1841533, 1841543-1841545, 1841554-1841608, 1841627-1841647, 1841682-1841689, 1841762-1841797, 1841806-1841815, 1841820, 1841835, 1841841, 1841852-1841894, 1841904-1841947, 1841960-1841976, 1841987-1842023, 1842045-1842068, 1842074, 1842091-1842095, 1842167-1842168, 1842180-1842223, 1842232-1842286, 1842316-1842326, 1842352, 1842360, 1842376-1842448, 1842453, 1842471-1842516, 1843638-1843653
224GFER160.330097087378644146182034220-2034477, 2034748-2034757, 2034820-2034833, 2034854-2034901, 2035886-2035933, 2035973-2036008
225TSC2160.28908554572271385654242098663, 2098675-2098676, 2098731-2098741, 2100401-2100409, 2103343-2103350, 2103381-2103383, 2103387-2103402, 2103414-2103453, 2104327-2104357, 2106197-2106218, 2108748-2108754, 2108757, 2108780-2108784, 2108791-2108814, 2108825, 2108827-2108828, 2108839-2108841, 2110671-2110704, 2110715-2110722, 2110743-2110753, 2110756-2110794, 2110813, 2111937-2111956, 2111985-2112009, 2112498-2112509, 2112525, 2112540-2112542, 2112569-2112601, 2112979-2113019, 2113032-2113037, 2113047-2113052, 2114283-2114293, 2114326, 2114373-2114428, 2115527, 2115538, 2115559-2115610, 2115619-2115636, 2120457-2120469, 2120476-2120521, 2120539-2120579, 2121511-2121543, 2121546, 2121564-2121617, 2121785-2121816, 2121830, 2121841-2121935, 2122242-2122283, 2122299-2122311, 2122339, 2122850, 2122854, 2122860-2122869, 2122873, 2122925-2122961, 2122965, 2124201-2124229, 2124238-2124270, 2124280-2124292, 2124298, 2124318-2124390, 2125812, 2125840-2125893, 2126069-2126074, 2126085, 2126097-2126162, 2126492-2126586, 2127599, 2127602-2127634, 2127642-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130200, 2130205-2130208, 2130212-2130217, 2130227, 2130233, 2130244-2130257, 2130284-2130378, 2131596-2131799, 2132437-2132438, 2132453-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138243, 2138250-2138326, 2138447-2138491, 2138498-2138611
226PKD1160.004646840148698912852129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143074, 2143080-2143094, 2143545-2143678, 2143694-2143739, 2143818-2143966, 2143982-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147413, 2147433-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
227ABCA3160.8506353861192676451152327620-2327658, 2327880-2327899, 2327935-2327941, 2328027-2328051, 2328315-2328322, 2328360-2328398, 2328414, 2328436-2328459, 2328971, 2328984, 2329075-2329117, 2331041, 2331107, 2331135-2331146, 2331212-2331222, 2331384-2331400, 2331430, 2331463, 2331466, 2331489-2331510, 2333202-2333204, 2333207-2333234, 2333240-2333251, 2333273-2333282, 2333296-2333304, 2333310, 2334329-2334371, 2334377-2334380, 2334791, 2334800, 2334811, 2334978-2334993, 2334998, 2335443-2335445, 2335449, 2335488-2335521, 2335547-2335580, 2335636-2335647, 2336950, 2336953, 2338070-2338071, 2338267, 2339560-2339561, 2339569, 2345596-2345626, 2347377-2347425, 2347431-2347476, 2347487-2347515, 2347531-2347540, 2347789, 2347823, 2347827-2347839, 2347844, 2347858, 2347877-2347886, 2347889-2347892, 2347915-2347922, 2348413-2348428, 2348506, 2348512, 2348522-2348541, 2349448-2349450, 2350006-2350021, 2350148, 2354091, 2369609-2369612
228MEFV160.9138959931798820223463293188, 3293204, 3293210, 3293319, 3293494, 3293624-3293635, 3293677-3293683, 3297056, 3297060, 3304193-3304211, 3304451-3304476, 3304498-3304553, 3304610-3304611, 3304617, 3304651-3304654, 3304759-3304765, 3306338-3306358, 3306409-3306435, 3306445-3306456, 3306470
229SLX4160.933878292461436455053632519-3632536, 3632593-3632594, 3633110, 3633115, 3633125, 3634781-3634792, 3639007, 3639011, 3639445-3639470, 3639515-3639553, 3639565-3639574, 3639623, 3639665-3639667, 3639670-3639672, 3639775-3639778, 3639783, 3639801, 3639815, 3639828, 3639838-3639846, 3639854-3639856, 3639864, 3639869, 3639873, 3639963-3639972, 3640036-3640045, 3640507, 3640780-3640781, 3640786, 3640792, 3642805, 3642809-3642810, 3642816, 3642821-3642827, 3642862-3642866, 3644518-3644520, 3645623, 3646205-3646207, 3646212-3646226, 3646301-3646347, 3647470, 3647540-3647564, 3647595, 3647805, 3647844-3647862, 3647870-3647925, 3651019-3651021, 3651032-3651036, 3656554
230CREBBP160.9516987310683635473293777749-3777776, 3777802-3777820, 3778132-3778135, 3778146, 3778299-3778313, 3778351-3778359, 3778363-3778366, 3778370-3778372, 3778382, 3778401-3778418, 3778430-3778431, 3778435, 3778444-3778458, 3778566-3778592, 3778611-3778617, 3778628-3778667, 3778788, 3778799-3778803, 3778913-3778959, 3778985-3779013, 3779038-3779075, 3779199, 3779203-3779204, 3779286, 3779406-3779408, 3779412-3779414, 3779462-3779480, 3779490, 3779635, 3779650, 3779712, 3779736, 3819240-3819244, 3929917
231GLIS2160.1415873015873135215754382282-4382317, 4382330, 4382350-4382436, 4382448-4382453, 4383349-4383358, 4383362, 4383373-4383396, 4383423-4383434, 4383466-4383479, 4383514-4383520, 4384802-4384817, 4384823-4384875, 4384892-4384978, 4385061-4385194, 4385276-4385305, 4385312-4385394, 4386726-4386744, 4386758-4386767, 4386778-4387035, 4387049-4387269, 4387283-4387525
232ALG1160.8301075268817223713955121902, 5127932, 5128792-5128799, 5128824-5128879, 5130947-5130999, 5131010-5131057, 5133737-5133758, 5134812-5134853, 5134877-5134882
233ABAT160.99800399201597315038870346, 8873411-8873412
234ABCC6160.759751773049651084451216244015, 16244035-16244049, 16244064, 16244520, 16244550-16244553, 16244556, 16248567, 16248596-16248620, 16248764-16248770, 16248826, 16251621, 16251635, 16253339-16253370, 16253395-16253403, 16253411-16253422, 16253436-16253440, 16255295-16255368, 16255401-16255421, 16256850-16256870, 16256879-16256895, 16256962-16257011, 16257037-16257049, 16259480-16259687, 16259715-16259749, 16259758-16259790, 16263503-16263671, 16263681-16263710, 16267141-16267176, 16267186-16267261, 16269768-16269784, 16269821-16269843, 16271346-16271347, 16271357, 16271427, 16271459-16271479, 16272703-16272708, 16272741-16272756, 16272818, 16276339, 16276748-16276750, 16278831-16278843, 16278869, 16282708-16282710, 16295954-16295960, 16306056-16306085, 16313503-16313516, 16317268-16317291
235UMOD160.997919916796674192320359856-20359857, 20359860-20359861
236OTOA160.9932748538011723342021747630-21747642, 21747697, 21752142-21752150
237OTOA160.99096385542169999622568264-22568272
238COG7160.999135322092522231323436135, 23464161
239CLN3160.9901290812452513131728497673-28497675, 28497678-28497680, 28497683-28497689
240TUFM160.989035087719315136828857337-28857343, 28857551-28857558
241ATP2A1160.999667332002661300628900158
242PHKG2160.9549549549549555122130760142-30760196
243FUS160.997469955724234158131195689-31195692
244SLC5A2160.9648340762753871201931495994-31495995, 31499370-31499392, 31499802-31499807, 31499946, 31500010-31500026, 31500035-31500036, 31500054-31500073
245SALL1160.998490566037746397551175656-51175661
246MMP2160.9848714069591530198355513405-55513412, 55513444-55513465
247SLC12A3160.9201422567087247309356899224-56899226, 56899427-56899428, 56901104-56901124, 56904013, 56904016, 56904020, 56904023-56904029, 56914057-56914084, 56918092-56918116, 56919222-56919236, 56920276-56920295, 56920865-56920866, 56920915-56920937, 56920970-56920987, 56921837-56921842, 56921860-56921900, 56921917-56921939, 56924204-56924205, 56933448-56933455
248GPR56160.996124031007758206457687224, 57687227, 57693380-57693384, 57693395
249CNGB1160.987752928647546375657983261-57983300, 58001035-58001040
250TK2160.982683982683981692466583895, 66583932, 66583937-66583949, 66584040
251HSD11B2160.79392446633826251121867465152-67465353, 67465368-67465374, 67465396-67465398, 67465401-67465416, 67469966-67469983, 67470001-67470002, 67470265, 67470271, 67470742
252LCAT160.79743008314437268132367973810-67973813, 67973838-67973858, 67973921-67973923, 67973933-67973939, 67973951-67973952, 67973955, 67974031-67974044, 67974062, 67974065-67974072, 67974097-67974107, 67974110, 67974146-67974186, 67976362-67976370, 67976386-67976422, 67976464-67976490, 67976574-67976588, 67976645-67976648, 67976658, 67976662-67976669, 67976766-67976784, 67976969-67976996, 67977079-67977084
253CDH3160.9875502008032131249068679561-68679569, 68679613-68679619, 68721468-68721476, 68725789-68725791, 68725822-68725824
254CDH1160.9894299735749328264968771319-68771328, 68771347-68771364
255COG8160.81402936378467342183969364742-69364884, 69364893-69364914, 69364945-69364956, 69364959, 69364989, 69366686-69366689, 69368598, 69368602, 69368629-69368631, 69373085-69373089, 69373125-69373142, 69373182, 69373198-69373248, 69373254-69373268, 69373280-69373326, 69373397-69373399, 69373404-69373417
256HP160.9967239967244122172091295, 72091307-72091308, 72091311
257GCSH160.938697318007663252281129736, 81129777-81129786, 81129797-81129804, 81129819-81129830, 81129883
258GAN160.9871794871794923179481348755-81348777
259MLYCD160.81241565452092278148283932762-83932858, 83932877-83932883, 83932907-83932964, 83932975-83933016, 83933039, 83933042, 83933054, 83933060-83933063, 83933085-83933119, 83933151-83933153, 83933188-83933196, 83933269, 83941855, 83945831-83945832, 83945892, 83948692-83948694, 83948759-83948767, 83948898-83948899, 83949027
260FOXF1160.9657894736842139114086544209-86544221, 86544235-86544236, 86544854-86544877
261FOXC2160.83333333333333251150686601117-86601119, 86601313-86601314, 86601318, 86601427-86601430, 86601434-86601440, 86601499, 86601507-86601514, 86601528-86601562, 86601611-86601619, 86601651-86601678, 86601706-86601754, 86601775-86601795, 86601867-86601869, 86601883-86601885, 86601941, 86601978-86602023, 86602137-86602138, 86602177-86602203, 86602357
262JPH3160.6533155318202779224787636881-87636903, 87636960-87636970, 87636983, 87637102, 87677979-87678019, 87678040-87678047, 87678237-87678276, 87678300-87678314, 87678357, 87678588-87678594, 87678637-87678641, 87723252-87723262, 87723274-87723387, 87723401-87723478, 87723484-87723509, 87723549-87723595, 87723606-87723607, 87723619-87723625, 87723642-87723735, 87723749-87723778, 87723872-87723947, 87723963-87724030, 87724054-87724076, 87724083-87724132
263CYBA160.2193877551020445958888709761-88709979, 88712524-88712566, 88712576-88712592, 88713169-88713206, 88713220, 88713228-88713246, 88713509, 88713519-88713567, 88714453-88714464, 88714469, 88714505, 88717364-88717421
264APRT160.1823204419889544454388876106-88876162, 88876170-88876172, 88876197-88876248, 88876478-88876556, 88876831-88876865, 88876876, 88876880, 88876901-88876904, 88876923, 88876928-88876951, 88877958-88878064, 88878228-88878307
265GALNS160.62842574888464583156988880847-88880852, 88880862, 88880871-88880873, 88880887-88880903, 88880930-88880931, 88884415-88884532, 88888997-88889039, 88889059-88889118, 88891175-88891180, 88891186-88891233, 88891240-88891270, 88893141, 88893155-88893195, 88893198-88893199, 88893234-88893246, 88901636, 88901641, 88907400-88907408, 88907416-88907462, 88908361-88908379, 88909114-88909119, 88909148-88909154, 88923166-88923216, 88923236-88923285
266SPG7160.90536013400335226238889574826-89574886, 89574911-89574925, 89574937-89574961, 89574972-89574973, 89576961-89576964, 89598366-89598367, 89614439-89614447, 89614454, 89614462, 89616951, 89616988-89616993, 89616999-89617002, 89619437, 89619503, 89620349-89620355, 89623383-89623422, 89623432-89623477
267FANCA160.97184065934066123436889805060, 89805344, 89805348, 89805932-89805938, 89809285-89809292, 89837025-89837032, 89842195-89842215, 89877337-89877342, 89880949-89880950, 89882298-89882304, 89882315, 89882945-89883003, 89883007
268TUBB3160.51441241685144657135389989810-89989818, 89989826-89989866, 89999045-89999059, 89999063, 89999881, 89999982, 90001137-90001158, 90001311-90001328, 90001340-90001341, 90001384-90001392, 90001408-90001410, 90001421-90001446, 90001454-90001492, 90001557-90001561, 90001568-90001604, 90001613, 90001665-90001896, 90001903-90002009, 90002027-90002059, 90002086, 90002117, 90002131-90002138, 90002168-90002212
269PRPF8170.990296803652976870081557238, 1580898-1580911, 1587778-1587798, 1587803-1587816, 1587843-1587860
270CTNS170.8079800498753123112033559786-3559813, 3559819-3559870, 3559975-3560012, 3560026-3560033, 3560063-3560086, 3561305-3561318, 3561404, 3563185-3563188, 3563255-3563269, 3563530-3563531, 3563551-3563555, 3563583-3563597, 3563938-3563957, 3563963, 3564025-3564028
271CHRNE170.6524966261808451514824802163-4802186, 4802296-4802333, 4802344-4802387, 4802398-4802402, 4802494-4802495, 4802522-4802647, 4802669-4802679, 4802763-4802830, 4804094-4804099, 4804103-4804130, 4804144-4804150, 4804178-4804202, 4804305-4804353, 4804399, 4804403-4804410, 4804422-4804485, 4804845, 4805260-4805267
272PITPNM3170.9247863247863222029256358658-6358671, 6358677-6358694, 6358705-6358724, 6358753-6358754, 6358757-6358773, 6358851-6358875, 6358903-6358932, 6358956-6358963, 6368076-6368086, 6374481-6374520, 6376061-6376069, 6377904-6377906, 6381346, 6459705-6459726
273ACADVL170.994410569105691119687123332-7123335, 7123467, 7123470-7123474, 7128032
274CHRNB1170.974767596281543815067348450-7348466, 7348649-7348652, 7348712-7348728
275GUCY2D170.9535024154589415433127906386-7906390, 7906439-7906445, 7906448-7906452, 7906464, 7906480-7906488, 7906516-7906550, 7906601, 7906604-7906605, 7906616-7906621, 7906662-7906664, 7906668-7906683, 7906709-7906720, 7906790-7906793, 7906850-7906853, 7906889-7906919, 7907194-7907205, 7919833
276ALOX12B170.994776828110161121067983103, 7984439-7984448
277HES7170.842182890855461076788024893, 8024899-8024915, 8024934-8024956, 8024966-8024978, 8025002-8025031, 8025041, 8025061-8025063, 8025088-8025089, 8025093-8025096, 8025204-8025216
278ELAC2170.998790810157193248112898339, 12899984-12899985
279FLCN170.9758620689655242174017124861-17124868, 17131217-17131250
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372SDHAF1190.864942528735634734836486177-36486201, 36486229-36486236, 36486345-36486350, 36486402-36486409
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379RPS19190.98858447488584543842365269-42365273
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381ETHE1190.983006535947711376544012200-44012212
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428REEP120.98844884488449760686564627-86564633
429EIF2AK320.9823933154282359335188926730-88926732, 88926737-88926792
430TMEM12720.952580195258023471796930887, 96930896, 96930899, 96930929-96930930, 96931031-96931033, 96931043, 96931080-96931104
431ZAP7020.9913978494623716186098340535-98340541, 98340761-98340767, 98349773-98349774
432RANBP220.928475452196386929675109336087-109336100, 109336126-109336134, 109345588-109345589, 109345654-109345655, 109347317-109347328, 109347853-109347894, 109352040, 109352139-109352154, 109352188, 109352560, 109352606-109352612, 109357050-109357079, 109357110-109357116, 109363251-109363254, 109365407-109365452, 109367751-109367775, 109367871, 109368074-109368111, 109368368, 109369479, 109369485, 109370343-109370375, 109371385-109371431, 109371656-109371684, 109374869-109374872, 109378617-109378628, 109382787-109382793, 109382943, 109383055, 109383110, 109383145, 109383262-109383301, 109383315-109383360, 109383541, 109383603, 109383646-109383682, 109383753-109383798, 109383819-109383846, 109383884-109383892, 109383980-109384013, 109384469, 109384523-109384567, 109384609-109384615
433MERTK20.99233333333333233000112656315-112656330, 112656333-112656338, 112656341
434PAX820.98373983739837221353113993145-113993159, 113994204-113994210
435GLI220.942239025414832754761121708845, 121708929-121708972, 121712955, 121712960-121712966, 121728024-121728027, 121729598-121729639, 121745976, 121745981, 121745986, 121745990, 121746142-121746162, 121746178-121746219, 121746235-121746254, 121746280-121746307, 121746348-121746354, 121746481, 121746498-121746521, 121746560, 121746600-121746612, 121746693, 121747405-121747406, 121747419-121747420, 121747463-121747466, 121747475-121747478, 121747481, 121748051
436BIN120.99158249158249151782127827640-127827654
437PROC20.824675324675322431386128178904, 128178909-128178917, 128178934-128178948, 128178952, 128179010, 128180493-128180517, 128180610-128180622, 128180661-128180746, 128180887-128180899, 128184681-128184690, 128186038-128186052, 128186128-128186169, 128186226, 128186295, 128186324-128186333
438CFC120.77232142857143153672131279058, 131279620-131279643, 131279692, 131280363-131280395, 131280406, 131280434-131280465, 131280742-131280762, 131280792-131280828, 131280843, 131285420, 131285431
439RAB3GAP120.9996605566870312946135911422
440NEB20.99899869830782019974152432786-152432797, 152432822-152432829
441SCN1A20.9994997498749435997166895933-166895934, 166901716
442SCN9A20.9996629592180725934167060870-167060871
443ITGA620.9984737484737553276173292517-173292521
444HOXD1320.91957364341085831032176957619-176957623, 176957644-176957650, 176957660-176957678, 176957691-176957715, 176957722, 176957760-176957764, 176957797-176957801, 176957810, 176957828, 176957960-176957973
445PRKRA20.990445859872619942179315135, 179315722-179315729
446DFNB5920.9990557129367311059179326000
447TTN20.9992917564440271100248179392333-179392348, 179417729, 179418347, 179422401, 179425464, 179431285-179431287, 179433794, 179433797-179433799, 179434064, 179434074-179434078, 179435138, 179435914-179435918, 179437107, 179438592-179438599, 179440651, 179441837-179441838, 179442598-179442599, 179444857, 179446695, 179446766-179446767, 179446854, 179446857, 179455605-179455606, 179459133, 179460333-179460336, 179477680-179477682, 179510670-179510671
448CERKL20.97560975609756391599182468575-182468583, 182468620-182468635, 182468641-182468646, 182468652-182468654, 182468686-182468690
449COL3A120.9945466939332244401189860441-189860445, 189872611-189872629
450HSPD120.9994192799070811722198351838
451BMPR220.999037536092433117203242259, 203332346, 203378466
452NDUFS120.998168498168542184207018378-207018381
453WNT10A20.914673046251991071254219745804-219745819, 219757516-219757559, 219757595-219757612, 219757711-219757719, 219757865-219757884
454DES20.95966029723992571413220283230-220283236, 220283271-220283274, 220283277, 220283287-220283292, 220283433-220283442, 220283633-220283640, 220283662, 220283677, 220283700-220283718
455OBSL120.932700755578983835691220416252-220416297, 220416834-220416839, 220417268-220417284, 220417335, 220417358-220417388, 220417404-220417419, 220417594-220417602, 220417652-220417666, 220417745, 220435237, 220435240, 220435348, 220435352, 220435366-220435396, 220435521-220435538, 220435549-220435550, 220435568-220435570, 220435609-220435622, 220435632, 220435636, 220435656-220435693, 220435700-220435706, 220435733-220435775, 220435793-220435799, 220435806, 220435840, 220435848, 220435874-220435880, 220435892-220435953
456COL4A320.99800518651506105013228145274, 228163441-228163448, 228163452
457CHRND20.98584298584299221554233390927-233390948
458COL6A320.99706314243759289534238244864-238244866, 238249098-238249106, 238249287-238249300, 238249535, 238268777
459AGXT20.73621713316373111179241808283-241808290, 241808326-241808338, 241808354-241808362, 241808374-241808435, 241808587-241808621, 241808653-241808693, 241810061-241810088, 241810097-241810125, 241810788-241810800, 241810808, 241810817, 241810853-241810858, 241813407-241813413, 241813449-241813467, 241815358-241815359, 241815371-241815375, 241816976-241816984, 241816994-241816999, 241817010, 241817454-241817469
460D2HGDH20.823116219667942771566242674640-242674667, 242674739-242674779, 242674800-242674820, 242689587-242689593, 242689638-242689655, 242689692, 242689698, 242690669, 242690783-242690784, 242690787, 242695327, 242695355-242695358, 242695368, 242695386-242695396, 242695399, 242707161-242707179, 242707193, 242707196-242707223, 242707252-242707279, 242707289-242707323, 242707349-242707375
461C20orf54200.98085106382979271410746374-746388, 746402-746413
462AVP200.543434343434342264953063316-3063373, 3063392-3063397, 3063402-3063414, 3063439-3063448, 3063623-3063653, 3063672-3063697, 3063712-3063751, 3063772-3063776, 3063785-3063821
463PANK2200.96205487448926517133869930-3869942, 3869977-3869978, 3869983-3869994, 3870014-3870024, 3870036, 3870096-3870111, 3870263-3870272
464JAG1200.997538966365879365710653569, 10654160-10654167
465C20orf7200.9518304431599250103813765715-13765735, 13782242-13782270
466THBD200.9866898148148123172823029321-23029323, 23029399, 23029880-23029898
467SNTA1200.91765480895916125151832000209-32000224, 32031165-32031175, 32031216-32031249, 32031315-32031362, 32031386, 32031399-32031408, 32031413-32031417
468HNF4A200.997894736842113142543047105, 43052658, 43052787
469CTSA200.9712758851035443149744520228-44520267, 44523766-44523768
470SALL4200.9867172675521842316250407116, 50407139-50407141, 50407162, 50407267-50407273, 50407340-50407358, 50407551-50407556, 50407773, 50408212-50408215
471STX16200.99897750511247197857246310
472GNAS200.943089430894314273857415177-57415209, 57415465-57415473
473GNAS200.9698137443802294311457429269, 57429472-57429478, 57429640-57429657, 57429667-57429693, 57429873-57429887, 57429988-57430002, 57430250-57430257, 57430385-57430387
474COL9A3200.62725060827251766205561448417-61448494, 61448919-61448987, 61449870-61449877, 61449892-61449905, 61450579-61450583, 61451281-61451309, 61452533-61452559, 61452859, 61453132-61453162, 61453468-61453471, 61453481-61453482, 61453485-61453493, 61453506-61453516, 61453943-61453958, 61453980-61453984, 61455831-61455844, 61455850-61455853, 61456320-61456373, 61457170-61457172, 61457186-61457222, 61457557-61457561, 61457571-61457600, 61458119-61458162, 61458618, 61458630, 61459311-61459328, 61460275-61460293, 61460813, 61460831-61460843, 61460980-61461027, 61461118-61461122, 61461126, 61461147, 61461720, 61461748, 61461751-61461752, 61461869-61461873, 61461894-61461940, 61463522-61463525, 61467581-61467594, 61467600, 61467610-61467645, 61468490-61468532, 61468571, 61468580, 61468583, 61471946
475CHRNA4200.0387473460721871811188461978090-61978215, 61981005-61981107, 61981114-61981141, 61981148-61981820, 61981827-61982101, 61982110-61982137, 61982150-61982184, 61982198-61982281, 61982292-61982297, 61982300, 61982304-61982338, 61982342-61982343, 61982348-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
476KCNQ2200.297059946544481841261962037997-62038122, 62038143-62038238, 62038254-62038292, 62038297, 62038316-62038368, 62038375, 62038378-62038394, 62038401-62038483, 62038497-62038592, 62038608-62038648, 62038651-62038652, 62038656, 62038674-62038728, 62039766-62039820, 62039848-62039852, 62039863, 62039873, 62039878, 62039888-62039889, 62044815-62044823, 62044850-62044863, 62045441-62045443, 62045453, 62045469, 62045511, 62045519, 62045526-62045527, 62046256-62046261, 62046268-62046335, 62046346-62046389, 62046409-62046428, 62051009, 62051015-62051016, 62051022-62051025, 62055536, 62059748-62059787, 62065162-62065166, 62065177-62065211, 62065235, 62070068, 62070072, 62070951-62071061, 62073759-62073771, 62073781-62073884, 62076012-62076130, 62076140-62076187, 62076596-62076717, 62078100-62078190, 62103521-62103816
477SOX18200.0181818181818181134115562679519-62679635, 62679643-62679821, 62679836-62680315, 62680512-62680869
478IFNGR2210.9280078895463573101434775850-34775922
479RCAN1210.984189723320161275935987196-35987198, 35987275, 35987286-35987293
480RUNX1210.9972279972284144336259350-36259353
481CLDN14210.86259972037833464-37833469, 37833519-37833525, 37833533-37833569, 37833702-37833705, 37833783, 37833810-37833830, 37833899-37833901, 37833942-37833957, 37833968-37833969, 37833983-37833984
482TMPRSS3210.9897435897435914136543795844-43795848, 43795874, 43795920, 43795958-43795964
483CBS210.9480676328502486165644474010-44474016, 44476945-44476950, 44479031-44479077, 44479406, 44483080, 44483158-44483168, 44484010-44484020, 44486418, 44488638
484CSTB210.922558922558922329745196126-45196129, 45196132-45196150
485AIRE210.185592185592191334163845705890-45705942, 45705952-45705976, 45705984-45706021, 45706440-45706480, 45706488-45706526, 45706566, 45706570, 45706577-45706601, 45706611, 45706864-45706894, 45706924-45706946, 45706954-45707001, 45707011, 45707015, 45707404-45707470, 45708228-45708268, 45708274-45708312, 45708335-45708341, 45709540-45709541, 45709563-45709611, 45709623-45709670, 45709676-45709685, 45709877-45709951, 45710978-45711093, 45712185-45712192, 45712211, 45712215, 45712225-45712262, 45712884-45712923, 45712936-45712964, 45712973-45713017, 45713029-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610
486ITGB2210.90519480519481219231046308608-46308637, 46308671-46308681, 46308708-46308749, 46308765-46308776, 46308794-46308810, 46309191-46309198, 46309335-46309382, 46309390-46309391, 46309398-46309399, 46309955-46309966, 46311756-46311786, 46311813, 46311899-46311901
487COL18A1210.449762583095922897526546875468-46875477, 46875485, 46875492-46875495, 46875501-46875518, 46875593-46875618, 46875642-46875651, 46875706, 46875721-46875722, 46875732, 46875738-46875741, 46875754, 46875768-46875779, 46875785, 46875802-46875817, 46875829-46875835, 46875851-46875896, 46875916, 46875923-46875927, 46875932, 46875936, 46875982-46875984, 46876080-46876086, 46876100-46876156, 46876173, 46876199-46876235, 46876248-46876251, 46876259-46876282, 46876306, 46876310, 46876347-46876349, 46876353-46876370, 46876376-46876382, 46876393-46876416, 46876432-46876481, 46876490-46876656, 46876670-46876718, 46876731-46876771, 46876784-46876785, 46876792-46876795, 46888156-46888157, 46888174-46888221, 46888239-46888258, 46888273, 46888283, 46888330-46888357, 46888377-46888410, 46888435-46888455, 46888469-46888471, 46888497-46888521, 46888523-46888542, 46888548-46888573, 46888600-46888648, 46888654-46888682, 46895434-46895447, 46896265-46896281, 46896300-46896359, 46896380, 46897379, 46897702-46897732, 46897778-46897785, 46897788-46897791, 46897795-46897796, 46897871-46897873, 46897876, 46899835-46899878, 46899993-46900062, 46900408, 46900411, 46900637, 46900642, 46900676, 46900680, 46900695-46900706, 46900766, 46906775-46906804, 46906829-46906836, 46906849-46906855, 46906858-46906878, 46906899, 46907361, 46907365, 46907388-46907410, 46908345, 46908349-46908351, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913429, 46913436-46913489, 46914459-46914485, 46914776-46914806, 46914813-46914829, 46915272-46915346, 46916414-46916423, 46916431-46916482, 46916964-46916998, 46917006, 46917513-46917526, 46917541, 46917550-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925275-46925276, 46925287-46925342, 46925752-46925871, 46927485-46927499, 46927506-46927507, 46929299-46929301, 46929306-46929320, 46929328, 46929341-46929381, 46929403-46929404, 46929407, 46929455-46929473, 46929489-46929511, 46929991-46930013, 46930028-46930063, 46930082-46930089, 46930110-46930147, 46931025-46931051, 46931095, 46931108-46931125, 46932102-46932128, 46932182, 46932185-46932186, 46932192-46932195, 46932208-46932224, 46932233-46932239
488COL6A1210.72594752186589846308747401765-47401861, 47402566-47402677, 47404183-47404190, 47404215-47404236, 47404247, 47404254, 47404263-47404357, 47404367-47404371, 47404382-47404383, 47406467-47406528, 47406535-47406542, 47406575-47406590, 47406858-47406986, 47407069-47407089, 47407413-47407423, 47407532-47407568, 47409017-47409051, 47409522-47409528, 47409535, 47409549-47409566, 47410172-47410198, 47410292-47410336, 47410736-47410740, 47410910-47410935, 47412087-47412096, 47412289-47412291, 47414134-47414138, 47417349-47417351, 47417616, 47417618-47417619, 47417622, 47418073, 47419122-47419131, 47419590-47419599, 47422132-47422134, 47422537-47422541, 47423507
489COL6A2210.339869281045752020306047531396-47531424, 47531433-47531505, 47531904, 47531909-47531910, 47531922-47531926, 47531929-47531930, 47531934-47531952, 47531962-47532000, 47532006-47532049, 47532059-47532094, 47532114, 47532149-47532169, 47532197-47532200, 47532260-47532319, 47532361-47532370, 47532375-47532378, 47532398, 47532432-47532466, 47533922-47533924, 47533928, 47533931, 47533957-47533987, 47535826-47535830, 47535839, 47535923-47535955, 47536300-47536317, 47536565-47536591, 47536701, 47536711, 47536727-47536728, 47537314-47537367, 47537788-47537817, 47538528-47538538, 47538544, 47538563-47538575, 47538579, 47538585, 47538960, 47538966, 47538969-47538986, 47538993-47539024, 47539027-47539031, 47539702-47539764, 47540429-47540491, 47540975-47540994, 47541002-47541037, 47541470-47541532, 47542022-47542068, 47542410-47542422, 47542433, 47542812-47542851, 47544565-47544568, 47544595, 47544603, 47544815-47544834, 47545180-47545215, 47545414-47545419, 47545433, 47545437, 47545453-47545455, 47545465-47545482, 47545511-47545531, 47545703-47545716, 47545758-47545799, 47545828-47545833, 47545838, 47545857-47545901, 47545907-47545949, 47545957-47545993, 47546004-47546032, 47546046-47546092, 47546114-47546151, 47546417-47546452, 47551868-47551955, 47551966-47552086, 47552100-47552213, 47552231-47552262, 47552276-47552466
490COL6A2210.1081871345029230534247552183-47552213, 47552231-47552262, 47552276-47552502, 47552510-47552524
491FTCD210.0159901599015991600162647556901-47556987, 47557153-47557248, 47558422-47558445, 47558459-47558560, 47558794-47558817, 47558823-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570426, 47570435-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
492PCNT210.98211966836481791001147744143, 47744156-47744186, 47766818-47766847, 47775485-47775487, 47786616-47786657, 47786668, 47786677-47786682, 47786803, 47786817, 47787007-47787009, 47787016-47787027, 47787031, 47801733, 47808706, 47831446, 47831452-47831455, 47836714-47836715, 47836718-47836725, 47836737, 47841943, 47848481, 47848490-47848493, 47850122-47850140, 47863834-47863837
493PRODH220.76261785912368428180318900750, 18900783-18900811, 18900833-18900849, 18901001-18901018, 18904407-18904416, 18904419, 18904482-18904501, 18905831-18905837, 18905931-18905937, 18906992-18907001, 18907058-18907059, 18908904-18908936, 18909874, 18909902, 18910391-18910392, 18910397-18910404, 18910632-18910666, 18910677-18910692, 18912594-18912612, 18923529, 18923538-18923626, 18923652, 18923661-18923699, 18923705-18923717, 18923732-18923753, 18923761-18923767, 18923782-18923800
494GP1BB22062162119711093-19711102, 19711377-19711987
495TBX1220.61021505376344580148819747194-19747200, 19748428-19748599, 19748611-19748708, 19753288-19753294, 19753425-19753428, 19753456-19753465, 19753477-19753512, 19753522-19753525, 19753912-19754006, 19754022-19754057, 19754068-19754076, 19754123-19754129, 19754166, 19754179-19754182, 19754190, 19754193, 19754229-19754232, 19754282-19754365
496SMARCB1220.9455958549222863115824129391, 24129435, 24175788, 24175792, 24175800, 24175811-24175846, 24176346-24176367
497CHEK2220.9483248154457791176129083906-29083933, 29083948-29083965, 29085165-29085172, 29090020-29090033, 29091197-29091203, 29091837-29091844, 29126465-29126472
498NF2220.9725950782997849178829999988, 30000016-30000039, 30000046, 30000073-30000095
499TCN2220.994548286604367128431003319-31003321, 31010390-31010391, 31011438-31011439
500DRG1220.999094202898551110431796623
501TIMP3220.982704402515721163633198013-33198020, 33198046-33198048
502MYH9220.9892911779704263588336688094-36688101, 36696944-36696967, 36696995-36696996, 36697603-36697605, 36698713-36698722, 36700096, 36702039-36702041, 36710237-36710238, 36712686-36712695
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568SLC6A350.6768652710681760218631403186-1403204, 1406309-1406343, 1406367-1406397, 1409141-1409142, 1409165-1409166, 1409170-1409179, 1409188-1409189, 1409205-1409231, 1409836-1409856, 1409880-1409964, 1411368-1411398, 1411412, 1411415-1411430, 1411434-1411446, 1414806-1414891, 1414910-1414911, 1420684-1420692, 1420699, 1420709, 1420716-1420752, 1420761, 1420778, 1420783-1420818, 1421991-1422035, 1422047-1422129, 1443141, 1443147-1443150
569SDHA50.80733944954128633271593261-1593285, 1594510-1594547
570NDUFS650.95733333333333163751801532-1801547
571DNAH550.999495495495571387513717585, 13916529-13916534
572FAM134B50.9611780455153958149416616857-16616900, 16616905, 16616953-16616957, 16616965-16616970, 16617005-16617006
573NIPBL50.999405822935235841537036481-37036485
574OXCT150.999360204734481156341794789
575ITGA250.998871968415124354652285334-52285336, 52285347
576SMN250.979661016949151888569345515, 69362946-69362961, 69372353
577SMN250.979661016949151888570220933, 70220946, 70238370-70238385
578HEXB50.997007779772595167173981162, 73981230-73981233
579AP3B150.998477929984785328577563415-77563419
580RASA150.9961832061068712314486670024-86670027, 86670092-86670095, 86670111-86670112, 86670125, 86670137
581LMNB150.924474730266891331761126113201-126113209, 126113244, 126113256, 126113278-126113279, 126113328, 126113337, 126113369-126113374, 126113377-126113391, 126113406, 126113419-126113514
582FBN250.999656711294238739127873294-127873296
583SLC22A550.98327359617682281674131705804-131705807, 131705819, 131705935-131705957
584MYOT50.97995991983968301497137221851-137221878, 137223056-137223057
585TCOF150.99563820018365194356149737365-149737366, 149777928-149777943, 149777996
586NKX2-550.9251282051282173975172659817-172659838, 172659867-172659870, 172659906-172659908, 172659919-172659926, 172659984, 172660089, 172661900-172661924, 172661940-172661948
587MSX250.84203980099502127804174151663-174151667, 174151672-174151674, 174151728-174151775, 174151821-174151874, 174151897-174151902, 174151935-174151938, 174151941, 174151970-174151974, 174151979
588NSD150.9997528117661628091176562380-176562381
589F1250.865979381443378582176829366-176829368, 176829374-176829383, 176829669-176829696, 176830301-176830328, 176830353-176830361
590F1250.518939393939398891848176829366-176829368, 176829374-176829383, 176829669-176829696, 176830301-176830328, 176830353-176830361, 176830381-176830385, 176830495-176830596, 176830603-176830612, 176830617-176830618, 176830860-176830903, 176830916-176831091, 176831197-176831220, 176831237-176831354, 176831381-176831386, 176831414, 176831503-176831635, 176831645-176831665, 176831819-176831842, 176831851-176831854, 176831891, 176831906-176831909, 176832055-176832078, 176832142-176832151, 176832324-176832328, 176832364-176832404, 176832736-176832746, 176832963-176832978, 176833003-176833031
591NHP250.982683982683988462177580674, 177580733, 177580736-177580741
592GRM650.875474563401673282634178408671-178408676, 178410161-178410167, 178413139, 178413337-178413345, 178413352, 178413428-178413436, 178413439-178413449, 178413462, 178413472-178413477, 178413508-178413509, 178413664-178413697, 178413705-178413744, 178413889-178413892, 178413895-178413905, 178413947, 178415937, 178416019, 178416096-178416099, 178416398-178416406, 178418440, 178418939, 178421569-178421599, 178421656-178421702, 178421750-178421792, 178421859-178421869, 178421884, 178421889-178421898, 178421921-178421945
593SQSTM150.875283446712021651323179247937-179247952, 179247968-179247973, 179247978, 179247996-179248023, 179248050-179248131, 179248137-179248141, 179250034-179250038, 179250944-179250948, 179251023-179251033, 179251083-179251087, 179260213
594FLT450.2468230694037130824092180038370, 180038466, 180038469, 180039586-180039587, 180039591, 180039603-180039604, 180040098, 180043367-180043429, 180043450-180043489, 180043943-180043952, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048904, 180049746-180049792, 180049799-180049818, 180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
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596TUBB2B60.6950672645739940813383224998-3225018, 3225052-3225057, 3225120-3225160, 3225185, 3225213-3225214, 3225219, 3225232, 3225235, 3225238, 3225262-3225268, 3225280-3225326, 3225340-3225344, 3225351-3225397, 3225409-3225469, 3225475-3225513, 3225535-3225553, 3225561-3225601, 3225630-3225640, 3225743, 3225982-3226017, 3226038, 3227721-3227726, 3227763-3227774
597DSP60.99988393686165186167542210
598ATXN160.9771241830065456244816327227-16327229, 16327849-16327899, 16327903, 16327921
599ALDH5A160.997571341833644164724495364, 24495367-24495368, 24515446
600HLA-H60.6213333333333328475029855764, 29855800, 29855816, 29855828-29855894, 29855901, 29855917-29855955, 29855993-29856001, 29856245, 29856256, 29856276-29856290, 29856311-29856314, 29856318, 29856330, 29856347, 29856353, 29856368, 29856389, 29856402, 29856416-29856442, 29856456-29856498, 29856516, 29856534, 29856543, 29856546, 29856550, 29856559, 29856565, 29856570-29856574, 29856581-29856614, 29856633, 29856643, 29856679, 29856686, 29856693, 29856718, 29856724, 29856729, 29856743-29856755
601NEU160.9358974358974480124831827496, 31829194, 31829776-31829777, 31829813-31829847, 31829931, 31829942, 31830434, 31830437-31830448, 31830479-31830504
602CFB60.999473822678242380131895773, 31911253
603TNXB60.86158631415241267192931976826-31976832, 31976896-31976929, 31977377-31977394, 31977629-31977640, 31977786-31977792, 31977994-31978001, 31978020-31978051, 31978110, 31978498-31978536, 31978575-31978582, 31978782-31978793, 31978972-31978982, 31979345-31979351, 31979417-31979464, 31979513, 31979557-31979571, 31979624-31979627, 31979630, 31980000, 31980074
604CYP21A260.89314516129032159148832006207-32006255, 32006317, 32006337, 32006349-32006360, 32006960-32006962, 32006965-32006968, 32007398, 32008252-32008275, 32008344-32008345, 32008448-32008454, 32008656-32008695, 32008748, 32008751-32008763, 32008865
605TNXB60.966533113363194261272932009126-32009149, 32009634-32009664, 32009803, 32009809-32009815, 32009818, 32009821-32009824, 32009828, 32009893-32009936, 32010043-32010044, 32010104-32010135, 32010250, 32010253-32010269, 32010520-32010533, 32010595-32010608, 32010728-32010735, 32010754-32010785, 32011214-32011224, 32011232-32011270, 32011307-32011329, 32011813-32011832, 32012160, 32012276-32012307, 32012373, 32012377-32012381, 32012384-32012388, 32012411-32012437, 32012478-32012481, 32012484, 32012795, 32014063-32014067, 32021172, 32026107, 32026117-32026126, 32026139, 32029215-32029219
606HLA-DQA160.919270833333336276832609144-32609150, 32609166-32609169, 32609173, 32609181, 32609207, 32609212-32609213, 32609216, 32609264, 32609271, 32609286, 32609299, 32609312, 32609325-32609331, 32610433-32610464, 32610535
607HLA-DQB160.6908396946564924378632629224-32629234, 32629800-32629802, 32629932-32629958, 32632575-32632650, 32632666-32632667, 32632676-32632775, 32632795, 32632829-32632844, 32634300-32634302, 32634306, 32634318, 32634331, 32634341
608SYNGAP160.97420634920635104403233388042-33388108, 33393630-33393634, 33393637-33393640, 33410936-33410941, 33411258-33411259, 33411462-33411471, 33411507-33411516
609FANCE60.9490999379267582161135420323-35420327, 35420363-35420370, 35420372-35420375, 35420386-35420436, 35420459, 35420467, 35420476, 35420495, 35420539-35420540, 35423583, 35423586-35423590, 35423596, 35425358
610TULP160.9791282995702934162935479565-35479583, 35479957-35479969, 35479993-35479994
611LHFPL560.99848484848485166035773473
612MOCS160.77864992150706423191139883940-39883949, 39893422-39893589, 39895068-39895177, 39895183-39895317
613PRPH260.9884726224783912104142672161-42672172
614PEX660.999660210669381294342946660
615RSPH960.932611311672685683143612836, 43612853-43612857, 43612860, 43612888-43612917, 43612960-43612978
616RUNX260.9559386973180169156645390466-45390506, 45390509-45390535, 45390653
617MUT60.9853528628495333225349409558-49409589, 49409609
618PKHD160.99991820040911222551640625
619LMBRD160.9938385705483710162370410721-70410730
620RIMS160.999803110848591507972984124
621SLC17A560.998655913978492148874345121-74345122
622OSTM160.92238805970149781005108395479-108395487, 108395541-108395542, 108395546, 108395707-108395714, 108395726-108395755, 108395792-108395819
623ENPP160.99244060475162212778132129187, 132129202, 132129254, 132129298-132129306, 132129312-132129320
624EYA460.9994791666666711920133769271
625PEX760.9897119341563810972137143897-137143905, 137143913
626SYNE160.9999242252027226394152522960, 152644771
627TBP60.93333333333333681020170871014-170871016, 170871035, 170871038-170871040, 170871043, 170871052-170871082, 170871085, 170871088, 170871119-170871145
628LFNG70.3377192982456175511402559496-2559927, 2564329-2564363, 2564377, 2564860-2564867, 2564886-2564903, 2564909-2564945, 2564952, 2565056-2565080, 2565099-2565125, 2565151-2565155, 2565319-2565325, 2565346, 2565351-2565387, 2565400-2565401, 2565404, 2565878-2565905, 2565939-2565963, 2566043, 2566471-2566519, 2566531-2566540, 2566789, 2566794, 2566826, 2566830-2566831
629PMS270.971803785245277325896013150-6013156, 6017321-6017348, 6018227-6018252, 6045624-6045635
630TWIST170.7569786535303814860919156730-19156736, 19156760-19156762, 19156772-19156781, 19156793-19156871, 19156886-19156934
631HOXA1370.62210796915167441116727239038-27239047, 27239050-27239052, 27239083-27239113, 27239158-27239210, 27239217-27239248, 27239268-27239423, 27239438, 27239445-27239485, 27239494-27239580, 27239588-27239589, 27239608-27239628, 27239652-27239655
632GLI370.9945182374024926474342004648, 42004910, 42004913, 42005130-42005136, 42005218-42005222, 42005583-42005586, 42005737-42005739, 42005844-42005847
633PGAM270.955380577427823476244104509-44104529, 44104574, 44104601-44104602, 44104716, 44105046-44105052, 44105111, 44105128
634GCK70.88008565310493168140144185210-44185235, 44185259-44185261, 44185322-44185329, 44186082-44186083, 44186104-44186117, 44186125, 44186193-44186217, 44187295-44187296, 44187310-44187313, 44187316, 44187327, 44187392-44187410, 44187419-44187422, 44191875-44191881, 44192020, 44192927-44192936, 44192947-44192976, 44192996-44193005
635CCM270.79475655430712274133545039939-45039948, 45039951, 45077995-45077996, 45104221-45104224, 45112337-45112339, 45113070-45113104, 45113151-45113162, 45113869-45113873, 45113880-45113947, 45113992-45114000, 45115380-45115426, 45115435-45115441, 45115497-45115512, 45115562-45115575, 45115593-45115612, 45115625-45115644, 45115656
636EGFR70.9903660886319835363355086971-55086979, 55087001-55087026
637GUSB70.92842535787321140195665439545, 65439553, 65439581, 65439660-65439671, 65440011-65440058, 65441083-65441108, 65441172-65441179, 65441184, 65444404-65444406, 65445280-65445283, 65445363, 65446990-65447022, 65447108
638ASL70.70465949820789412139565547399-65547403, 65548117-65548120, 65551612-65551613, 65551643-65551648, 65551731-65551757, 65551798-65551806, 65552752-65552760, 65553838-65553882, 65553887, 65553890, 65554092-65554130, 65554264-65554299, 65554599-65554619, 65554632-65554675, 65556994-65557073, 65557544-65557570, 65557609-65557629, 65557755-65557762, 65557785-65557794, 65557846, 65557853-65557868
639KCTD770.939080459770115387066094052-66094053, 66094121-66094144, 66094169-66094195
640NCF170.7854545454545517782572639957-72639995, 72640033-72640039, 72641444-72641447, 72643611-72643648, 72643657-72643664, 72643710, 72644230-72644272, 72645873-72645888, 72645924-72645930, 72648681-72648682, 72648720, 72648725, 72648741-72648750
641ELN70.85287356321839320217573442518-73442599, 73456945-73456948, 73457317, 73459576, 73459588-73459589, 73459592-73459596, 73459599, 73461045, 73462502, 73462847-73462849, 73466080-73466104, 73466114-73466115, 73466120, 73466138-73466166, 73466262-73466305, 73467526-73467529, 73467532, 73467629, 73471991, 73471998, 73474224-73474257, 73474285-73474296, 73474301, 73474319, 73474706-73474728, 73474740, 73474745, 73477493-73477495, 73477530, 73477649-73477651, 73477655, 73477658-73477669, 73477966, 73480274-73480286, 73481062-73481064
642NCF170.77408354646206265117374193627, 74193660-74193685, 74195126-74195129, 74197292-74197320, 74197338-74197345, 74197381, 74197388, 74197391, 74197948-74197950, 74199556-74199571, 74202361-74202362, 74202400, 74202421-74202432, 74202903-74202937, 74202943-74203030, 74203383-74203411, 74203497-74203504
643POR70.65002447381302715204375609754, 75609765, 75610374-75610388, 75610414-75610427, 75611613, 75611616-75611624, 75613056-75613098, 75613151-75613156, 75614095-75614119, 75614147-75614185, 75614204-75614212, 75614239, 75614254-75614256, 75614260-75614276, 75614376-75614485, 75614494-75614525, 75614913-75614949, 75614971, 75614985-75615050, 75615072-75615081, 75615092-75615104, 75615113-75615167, 75615241-75615293, 75615322-75615353, 75615374-75615386, 75615477-75615506, 75615514, 75615655-75615671, 75615686-75615746
644HSPB170.880258899676387461875932030-75932031, 75932059-75932082, 75932107-75932135, 75932171-75932173, 75932176, 75932179-75932181, 75932220, 75932263, 75932267, 75932289, 75932300-75932302, 75932306-75932308, 75932320, 75932352
645AKAP970.9997441146366431172491630300-91630301, 91631993
646PEX170.9901349948078938385292140312-92140313, 92157621-92157656
647SGCE70.999262536873161135694259075
648SLC25A1370.998030526834074203195951265-95951268
649TFR270.9979218620116452406100231095-100231096, 100238641-100238642, 100238654
650IFRD170.9985250737463121356112101921-112101922
651CFTR70.961512491559761714443117188713-117188753, 117188760-117188800, 117188838-117188877, 117235008-117235056
652IMPDH170.95611111111111791800128038489-128038498, 128038520, 128045847, 128049820-128049821, 128049850-128049856, 128049876-128049923, 128049946-128049955
653FLNC70.964783565663982888178128470692-128470741, 128470749-128470752, 128470788-128470837, 128470858-128470931, 128471019-128471043, 128477214-128477230, 128477268-128477300, 128477740-128477741, 128480616, 128480713, 128480718, 128481232-128481235, 128482731-128482741, 128482875, 128483630, 128493773, 128493776-128493777, 128494116-128494117, 128494175-128494177, 128494265-128494269
654ATP6V0A470.9972255251684572523138394455-138394461
655BRAF70.98087787918296442301140500261, 140624390-140624416, 140624427, 140624455, 140624472, 140624480-140624492
656CNTNAP270.99299299299299283996145813987-145814001, 145814038-145814039, 145814049-145814059
657KCNH270.948275862068971803480150644122-150644125, 150671840-150671841, 150671847-150671875, 150671883-150671928, 150671972-150672001, 150672023-150672029, 150674926-150674957, 150674972-150675001
658PRKAG270.9964912280701861710151272006-151272011
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711NOTCH190.1261085028690767017668139390523-139390526, 139390537-139390543, 139390569-139390656, 139390673-139390713, 139390732-139391076, 139391119-139391417, 139391428-139391518, 139391525-139391526, 139391529-139391530, 139391539-139391540, 139391553-139391564, 139391583-139391721, 139391734-139391916, 139391925-139391947, 139391950, 139391958, 139391971-139392010, 139393366-139393373, 139393405, 139393412-139393440, 139393564-139393598, 139393612, 139393652, 139393657-139393677, 139395004-139395055, 139395075-139395226, 139395233-139395299, 139396200-139396244, 139396250-139396326, 139396332-139396340, 139396453-139396528, 139396724-139396811, 139396829-139396851, 139396873-139396940, 139397653, 139397678-139397684, 139397690, 139397693, 139397705-139397714, 139397729-139397730, 139397739, 139397742, 139397754-139397757, 139399125-139399321, 139399339-139399556, 139399762-139399795, 139399801-139400333, 139400987-139401014, 139401031-139401091, 139401168-139401325, 139401350-139401351, 139401361-139401362, 139401367-139401370, 139401400-139401425, 139401764-139401821, 139401847-139401857, 139401868, 139401880-139401889, 139402407-139402433, 139402444-139402496, 139402506-139402564, 139402575, 139402580-139402587, 139402684-139402837, 139403322-139403523, 139404185-139404259, 139404281-139404299, 139404333, 139404354-139404359, 139404365, 139404387-139404413, 139405105-139405257, 139405604-139405701, 139405716-139405723, 139407473-139407586, 139407844-139407882, 139407893-139407956, 139407980-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410132, 139410140-139410168, 139410433-139410470, 139410476-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413242, 139413260-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
712AGPAT290.027479091995221814837139568204-139568342, 139568351-139568379, 139569187-139569259, 139571037-139571132, 139571413-139571503, 139571519-139571588, 139571875-139572008, 139581628-139581809
713SLC34A390.2744444444444413061800140126157-140126206, 140126238, 140126578, 140126589, 140126594, 140127046, 140127049-140127069, 140127084-140127129, 140127137-140127146, 140127236, 140127263-140127285, 140127314-140127323, 140127349-140127379, 140127460-140127520, 140127661-140127697, 140127708, 140127713, 140127724-140127756, 140127783, 140127786, 140127790-140127804, 140127809, 140127831-140127856, 140128085-140128104, 140128135-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128964, 140128981-140128984, 140129063-140129064, 140129067, 140129088-140129089, 140129103-140129166, 140129182, 140130408-140130637, 140130645-140130868
714EHMT190.85655632537855593897140513481-140513501, 140605443-140605477, 140611078-140611174, 140611188-140611214, 140611225-140611274, 140611280-140611303, 140611318-140611323, 140611326-140611376, 140611394, 140611405-140611431, 140611436, 140611445-140611463, 140611507-140611575, 140611587, 140611602-140611627, 140622935-140622938, 140622959-140622981, 140638507-140638510, 140669663, 140669692-140669695, 140671165-140671168, 140671240, 140671244, 140671258-140671269, 140672412-140672417, 140672436-140672443, 140674169, 140728951, 140728971-140728976, 140729287-140729295, 140729304, 140729353, 140729389-140729405
715SHOXX0.5221843003413420879591633-591909, 595376-595405, 595436-595507, 595512-595520, 595528, 595533-595561, 605138, 605256
716CSF2RAX0.4758620689655268413051401601-1401603, 1401633-1401650, 1404671-1404724, 1404738-1404765, 1404769-1404798, 1407446-1407447, 1407488-1407494, 1407758, 1409230-1409270, 1409310-1409346, 1409381-1409392, 1413221-1413354, 1414320-1414326, 1414334-1414349, 1419384-1419454, 1419466-1419519, 1422154-1422171, 1422180-1422185, 1422202-1422240, 1422243-1422250, 1422254-1422255, 1422816-1422870, 1422898, 1424366, 1424404-1424420, 1428295-1428316
717PHKA2X0.999190938511333370818912494-18912496
718SMSX0.9909173478655810110121958943-21958952
719ARXX0.9615156897572565168925025356-25025358, 25031536-25031559, 25031564, 25031569, 25031574, 25031578, 25031581-25031582, 25031643-25031667, 25031671, 25031680-25031682, 25031777-25031779
720RPGRX0.82017924255565622345938144962-38144967, 38145055-38145056, 38145123-38145132, 38145253-38145756, 38145777-38145786, 38145806, 38145809-38145823, 38145847-38145862, 38145865, 38145887-38145889, 38145910-38145911, 38145973-38145976, 38146370-38146374, 38146475-38146498, 38147173-38147191
721TSPAN7X0.99733333333333275038420806-38420807
722BCORX0.998291571753999526839931822-39931824, 39932169-39932170, 39933372-39933375
723RP2X0.996201329534664105346736994-46736997
724CACNA1FX0.998483316481299593449062229-49062237
725ARX0.997104596453138276366765159-66765166
726TAF1X0.9948961633227729568270586184-70586186, 70586189-70586214
727SLC16A2X0.9875135722041323184273641350-73641352, 73641358-73641369, 73641398-73641402, 73641735-73641737
728ZIC3X0.98646723646724191404136648985-136648987, 136651132-136651143, 136651217-136651220
729SOX3X0.9947800149142471341139586427-139586433
730FAM58AX0.9727891156462620735152864420-152864426, 152864477, 152864483-152864484, 152864487-152864488, 152864493-152864495, 152864508-152864510, 152864513-152864514
731SLC6A8X0.900943396226421891908152954034-152954066, 152954086-152954182, 152954192-152954231, 152960213-152960231
732ABCD1X0.928060768543341612238152990731-152990737, 152990767-152990773, 152990789-152990792, 152990795, 152990798-152990806, 152990958-152991014, 152991050-152991052, 152991151-152991165, 152991248-152991263, 152991275, 152991278, 152991283-152991292, 152991437-152991441, 152991487-152991491, 152991541-152991544, 153001817, 153001827-153001836, 153008675-153008678, 153009030
733L1CAMX0.99629040805511143774153130543, 153130608-153130613, 153137612-153137618
734MECP2X0.97394789579158391497153363072-153363110
735OPN1LWX0.907762557077631011095153409770-153409776, 153418456, 153418460, 153418468, 153418521-153418544, 153420176, 153421890-153421915, 153424291-153424307, 153424345-153424367
736OPN1MWX0.839269406392691761095153448251-153448258, 153453474-153453496, 153455651-153455674, 153457296-153457303, 153458979-153459010, 153459043-153459083, 153461421-153461437, 153461475-153461497
737OPN1MWX0.899543378995431101095153485369-153485376, 153490592-153490614, 153492769-153492792, 153494414-153494421, 153496161-153496167, 153498539-153498555, 153498593-153498615
738FLNAX0.914149043303126827944153577836, 153578033-153578041, 153580277-153580286, 153580624-153580625, 153580668-153580674, 153580958-153580975, 153581265-153581271, 153581506-153581508, 153581781-153581782, 153581932, 153582025-153582033, 153582083-153582085, 153583013, 153583017-153583024, 153583066, 153583195-153583199, 153583340-153583343, 153585805-153585826, 153585930-153585941, 153586619-153586633, 153586682-153586686, 153586834-153586840, 153586900-153586901, 153587373-153587384, 153587420-153587425, 153587649-153587662, 153587741-153587767, 153587852-153587866, 153587915-153587916, 153587927-153587928, 153587933, 153587936, 153587939-153587960, 153588105-153588124, 153588184-153588204, 153588229-153588261, 153588377-153588391, 153588417-153588418, 153588488, 153588561, 153588564-153588566, 153588591, 153588599-153588604, 153588647-153588649, 153588659-153588665, 153588707-153588711, 153588819-153588820, 153588824-153588826, 153588852-153588856, 153588898, 153588904-153588908, 153588912-153588915, 153589720-153589729, 153589763-153589765, 153589768, 153589805-153589814, 153590464-153590467, 153590854, 153591045-153591057, 153591062, 153592938-153592939, 153593189-153593206, 153593570-153593574, 153593613-153593627, 153594414, 153594821-153594832, 153594943-153594951, 153594959, 153595107-153595118, 153595765-153595769, 153595805-153595809, 153596011-153596032, 153596249-153596253, 153596452-153596458, 153599241-153599245, 153599274-153599300, 153599322-153599327, 153599378-153599408, 153599418, 153599437-153599459, 153599462-153599464, 153599468-153599475, 153599566-153599587
739EMDX0.9398692810457546765153607898-153607906, 153607918-153607926, 153608067-153608083, 153608133-153608135, 153608323, 153608672-153608677, 153608724
740TAZX0.8212927756654141789153640181-153640222, 153640231-153640243, 153640289, 153640423-153640448, 153640516-153640551, 153641581-153641589, 153641831-153641843, 153647962
741GDI1X0.9955357142857161344153669537-153669542
742G6PDX0.97313797313797441638153760254, 153760291-153760295, 153760305, 153761211, 153761214, 153761218-153761219, 153761224-153761226, 153761229, 153761279-153761286, 153761859-153761871, 153762678-153762684, 153764189
743USP9YY0.998174230568614766814848392-14848405
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3MBL2-G54Dhomozygous0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MYO1A-G662Ehet unknown0.026Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
2.5POLG-P587Lhet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5POLG-T251Ihet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
2SP110-M523Thomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R3638Qhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TP53-P77Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1.5FCGR2B-I232Thet unknown0.133Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5HFE-C282Yhet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5TLR4-D299Ghet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1.5TLR4-T399Ihet unknown0.047Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
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
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1OPRM1-N40Dhomozygous0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-K388Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, 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
1CEP152-L914Vhomozygous0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
1RHD-I60LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-N152Thomozygous0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-E233QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-V238MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-K267MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RHD-V306IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-Y311ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-G314VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-P323HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-I342ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-M379Thomozygous0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-E398VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP2B6-Q172Hhomozygous0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
1CYP2B6-K262Rhomozygous0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SIX5-P635Shomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), 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
1NSD1-V614Lhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NSD1-S726Phomozygous0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DPYD-V732Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.905 (probably damaging), 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
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TCAP-R106Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (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
1SEPT9-P145Lhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-I137Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1TSEN54-P483Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ABCC3-R1297Hhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1XDH-R1296Whet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.954 (probably damaging), Testable gene in GeneTests
1RNASEL-D541Ehomozygous0.475Unknown
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
1BCAM-R77Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1BCAM-V196Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BCAM-T539Ahet unknown0.329Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1F5-D2222Ghet unknown0.045Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, 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-N817Thet unknown0.046Unknown
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
1F5-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RPGRIP1L-T1143Shomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPHS1-R408Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
1FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FANCA-S1088Fhet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-P643Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G501Shomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PEX6-V882Ihet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL9A2-L335Vhomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ALG2-V367Ahet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG2-S11Phet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TLR5-F616Lhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1TLR5-R392*het unknown0.044Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TLR5-Q181Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1FERMT1-R526Khomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCK1-I267Vhomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
1B3GNT6-A191Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RGPD4-Q1169Rhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PHKA1-R821HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ITIH5L-W1041Shomozygous0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-I279Mhomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-E201*homozygous0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
1EPHX1-Y113Hhomozygous0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PLEKHA2-I31Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1NR_027052-R29HhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027052-T53ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027052-Y63NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027052-S129Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1LAMB3-N181Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.842 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAM3A-R356WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAM3A-N302ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAM3A-R215GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAM3A-F185ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027251-H75ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
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
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ASL-W245Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75ASL-T251Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.625DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625DSC2-S451*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-K421Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
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
0.5ZNF491-R151*het unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TTN-D24019Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E22033Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T8694Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R7402Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ERCC6-G399Dhomozygous0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PITRM1-Q1037Rhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-A397Vhet unknown0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-I328Vhet unknown0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-L145Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL3A1-K1273Rhet unknownUnknown
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
0.5ZNF559-D18Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LDLR-A391Thet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH19-G645Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NDUFS7-P23Lhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DSC3-A28Dhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.5BMPR2-S775Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5ZNRF4-P37Shet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.402 (possibly damaging)
0.5ZNRF4-A157Shet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5ZNRF4-V159Ahet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNRF4-R163Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5MLLT1-A297Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TUBAL3-R250Whet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5TYK2-I684Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-R62Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5MSTN-I225Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSTN-K153Rhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5AOX1-N1135Shomozygous0.174Unknown
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
0.5ALK-V476Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX11G-L216Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5PEX11G-C91Whet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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)
0.5CCDC130-S22Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5HSD17B14-G16Whet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LILRB3-R465Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-N252Dhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MERTK-S118Nhomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-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
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC7-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DHDH-Q233*het unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5DHDH-G282Rhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIGLEC12-R528Whet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5SIGLEC12-Y494Shet unknown0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC12-T478Mhet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5SIGLEC12-H398Yhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.069 (benign)
0.5SIGLEC12-H217Qhet unknown0.885Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5SIGLEC12-A82Vhet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SIGLEC12-A66Shifthet unknown0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5DYSF-I852Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5DYSF-R1040Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-I2070Thet unknown0.137Unknown
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
0.5LENG1-E97Khet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ETFB-P52Lhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACTN4-V801Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACTN4-KVLA853PVLVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5SLC7A9-V142Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5THADA-C1605Yhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.387 (possibly damaging)
0.5THADA-T1187Ahomozygous0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.5CACNB2-R606Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP1B-V4264Lhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP1B-Q48Rhet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.508 (possibly damaging)
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EGLN2-S58Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.87 (probably damaging)
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR8-I331Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-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-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)
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
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
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghet unknown0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-E4913Khet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.251 (possibly damaging), Testable gene in GeneTests
0.5CPT1A-A275Thet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.741Unknown
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-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_028064-T138Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEN1-Q455Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-T898Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P982Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-R701Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-H678Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5SPATA7-V74Mhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5MLH3-P844Lhomozygous0.443Unknown
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
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-R2066Chet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2153Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIF21A-E1224Dhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N551Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ACSM4-Q357*het unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DPAGT1-I393Vhomozygous0.390Unknown
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-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-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
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMP8-Q450*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5MMP8-K87Ehet unknown0.551Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MPHOSPH8-D460Yhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5KRT5-G543Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-S528Ghet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT5-G109Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0748-R19Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ANKRD52-S1061Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ARHGAP9-R50Ghet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MADD-R766*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5F2-T165Mhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PIGS-R185Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5KRT40-S406Lhet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5KRT40-W390Rhet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT40-C349Rhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.81 (possibly damaging)
0.5KRT40-M303Thet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT40-E286Dhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.971 (probably damaging)
0.5KRT40-C265Yhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT40-R235Hhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5KRT40-T153Mhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.872 (probably damaging)
0.5KRT40-R108Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRT40-S102Nhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KRT40-T37Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5KRT14-A94Thomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghet unknown0.288Unknown
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-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-QL236HMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUZD1-I285Thet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5MYH3-A1752Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH3-A1192Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH3-A1003Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.019 (benign), Testable gene in GeneTests
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS1-G283Whet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5TRIM65-L509Phet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM65-S250Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.917 (probably damaging)
0.5TRIM65-V222Ghet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDH23-A1220Thet unknownRecessive
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5SLC29A3-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
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-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-N1376Dhomozygous0.602Unknown
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
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCUBE2-H712Qhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCUBE2-T591Mhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5SCUBE2-T285Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-A190Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RAG1-H249Rhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDHX-R24Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.055 (benign), Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.529Unknown
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
0.5KIF23-T51Ihet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.898 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NELL1-R82Qhet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NELL1-R354Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCC6-H632Qhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5NR_027336-P160Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-V73Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-W23*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5TRPV1-T469Ihomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV1-M315Ihet unknown0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV1-P91Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CES1-S12Ahet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CES1-R4Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.24 (possibly damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOA-F15Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UQCRC2-R183Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5SLC6A5-A89Ehet unknown0.024Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-K457Nhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SAG-I76Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.436 (possibly damaging), Testable gene in GeneTests
0.5SAG-V403Ahet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAAH-P129Thomozygous0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5LACE1-F455Lhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RSPH4A-V497Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD109-G828Ehet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CD109-T1241Mhomozygous0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CRISP2-C196Rhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-V3960Ihet unknown0.013Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-I3905Nhet unknown0.049Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-N53Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5ROS1-S653Fhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.975 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
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
0.5DNAH11-K4508Rhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R336Hhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.214 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_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
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknown0.375Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5AK125766-L144Mhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK125766-R117Hhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK125766-V114Ihet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK125766-R20*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5FNDC1-S36Phet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T438Ahet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-E463Qhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-Q1003Ehet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-D1180Ehet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.5FNDC1-L1261Phet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.38 (possibly damaging)
0.5FNDC1-Q1280Rhet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-T1504Khet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLC4-R90Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CUL7-A871Vhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GEMIN5-R682Qhomozygous0.837Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5GEMIN5-R319Ghet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL12B-V298Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.84 (possibly damaging), Testable gene in GeneTests
0.5SNX7-S34Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNX7-F250Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDHB16-R202Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PCDHB16-A415Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-T482Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PCDHB16-R525Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-E526Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-S532Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-S543Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5PCDHB16-R652Chet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5PCDHB16-A710Vhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PCDHB10-D446Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PCDHB10-R543Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB10-L660Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB10-EA684Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-SKFGG75HRLLRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP8-R952Qhomozygous0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP8-D46Ehet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNXB-V3186Ihet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SKIV2L-M214Lhet unknown0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIV2L-R324Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FOXC1-AG381Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FOXC1-G389Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSORS1C1-E34Khet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GJB4-C169Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5SEPN1-A105Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SVEP1-T3559Mhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.964 (probably damaging)
0.5SVEP1-A2750Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-E1810Ahet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5SVEP1-L1648Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-I1157Vhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5SVEP1-G332Ahet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5SVEP1-R229Ghet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5DOCK8-A1170Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5IFNA1-V10Ahet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAI1-A8Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM201A-G53Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM201A-Q115*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CDK5RAP2-R1045Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-G1022Ehet unknown0.029Unknown
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
0.5SETX-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
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTR2C-C23Shomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CELP-K177Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CELP-Q180*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CELP-L184Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCN1-T150Mhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5SNAPC4-GP944VRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNAPC4-D40Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM83H-G902Ehet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5FAM83H-Q201Hhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP11B2-V386Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPL-V522Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTR5A-P15Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAMP3-W56Rhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
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)
0.5WBSCR28-I14Nhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WBSCR28-W78Rhomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5WBSCR28-G137Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUSC3-I65Vhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-N27Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
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-R1999Whomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S2132Lhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5ZFAT-S470Chet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.94 (probably damaging)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM82-L308Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TMEM82-L309Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FGL1-M114Vhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FGL1-R38Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.876 (probably damaging)
0.5FGL1-T15Ihet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGL1-F5Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-D124Ehet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-LE1031RKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-E1037Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5CROCC-A1229Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhomozygous0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.5CSRP2BP-V400Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CSRP2BP-P600Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5GDF5-S276Ahomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FCRLB-T32Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-L121Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5CCDC50-R466Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NAV1-Q937Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5USH2A-R5031Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-P3893Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R2292Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCCC1-H464Phomozygous0.584Unknown
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
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5IGSF9-P1117Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5IGSF9-G34Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5TET2-L34Fhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5TET2-V218Mhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TET2-H1778Rhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EP300-Q2223Phet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RHBG-V143Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPRS-Y419Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5EPRS-D308Ehomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-W76Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTPN14-H360Phet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HACL1-I151Fhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5SUMF1-S63Nhomozygous0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5IRAK2-S47Yhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5IRAK2-R214Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
0.5IRAK2-L392Vhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5IRAK2-D431Ehomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATG7-V471Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging)
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KAT2B-R653Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5CPOX-V294Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5DCLK3-E633Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging)
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIRP1-G1604Rhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP1-H965Phet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP1-Q754Phet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (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
0.5CFHR1-E175Qhomozygous0.268Unknown
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
0.5TMEM25-W25Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSB-S384Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5KIAA1109-R2222Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5ITGB2-R285Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL4A3-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF474-R95Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5ZNF474-R173Hhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5ZNF474-L318Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPAG17-P1348Lhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SPAG17-R143Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5OR2T3-Y109Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OR2T3-T202Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5OR2T3-M204Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5IGFBP5-R138Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5CCDC108-D1234Ghet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CCDC108-M66Lhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R368Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhomozygous0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC14L3-R364Chet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.305 (possibly damaging)
0.5SEC14L3-D335Ehomozygous0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC14L3-R214Hhomozygous0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRFIP1-Q275Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRRFIP1-R690Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRRFIP1-H783Dhomozygous0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y3105Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-E2976Dhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-K2444Ehet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-S2366Thet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-H1961Qhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Q1914Rhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-AS1805VPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1699Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1376Ghet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1360Hhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1167Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-T454Ahet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G444Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AMACR-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
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TDRKH-G257Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging)
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH12-I284Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CDH12-V68Mhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LIFR-H116Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TGM6-M58Vhomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TGM6-R448Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DEFB128-H62Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB128-K27Nhomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-D1529Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5HEATR7B2-L1179Phet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-F890Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5HEATR7B2-V496Ihomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-E468Vhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.025 (benign)
0.5HEATR7B2-W191Rhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-R116Ghomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-I139Vhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.089 (benign)
0.5CR1L-C207Yhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CR1L-G263Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR1L-N402Dhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CR1L-I455Vhet unknown0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-L491Phet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5CR1L-V500Ihet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5NNT-K63Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5NNT-L663Fhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.809 (possibly damaging)
0.375LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.375LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-D668Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375PRKCSH-A326Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CDAN1-W1121Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TMEM67-D261Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH2-D1327Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH2-A21Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MASP2-G464Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MASP2-D371Yhomozygous0.623Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
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
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25C1orf167-R77ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-S125IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-R221HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-W232RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-Q400*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C1orf167-R728GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25FAM111A-F264Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM111A-Q451Ehet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.487 (possibly damaging)
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RBMXL1-P301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RBMXL1-L296Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-D233Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-P98Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-I40Mhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25ADAMTSL4-E44Khet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.25ADAMTSL4-A193Phet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL4-T322Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25BMPR1A-P2Thet unknown0.393Unknown
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
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-V4332Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-S4331Nhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-H3256Yhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-S2446Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-A1503Vhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EFEMP2-I259Vhomozygous0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EFEMP2-P47Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALDH4A1-V470Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25OGDHL-Q831*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25OGDHL-T637Mhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMNA-L15Phet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-M174Thet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25C4orf50-I177Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C4orf50-R86WhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C4orf50-R83Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IDUA-R105Qhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.023 (benign), 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
0.25PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25TMPRSS3-I253Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASXL1-G645Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ASXL1-L814Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIB3-Q84Rhet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PANK2-G126Ahet unknown0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25ATR-I774Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATR-M211Thomozygous0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL7A1-P595Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUN2-G671Shet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.25SUN2-L441Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SUN2-L89Rhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.197 (benign)
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (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
0.25TMEM173-H232Rhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM173-A112Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP3A43-Y25Shifthet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP3A43-P340Ahet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25RP1L1-G2285Rhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-E2171Khet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-D1889Vhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-A1709Vhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-P1495Rhet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-R1467Shomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-E1343Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RP1L1-R1146Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-L792Phet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-G514Shet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-R95Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C8orf49-W208Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ECM2-G319Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ECM2-Q56Phet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.891 (probably damaging)
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), 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-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AIM1-E1196Ahet unknown0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MSX2-M129Thet unknown0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF204P-T16Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF204P-P7Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-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
0.25HLA-DQB1-Q253Hhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-R252Hhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TRIM15-I29Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-F202Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-L782Hhet unknown0.216Unknown
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
0.25ALG1-D429Ehet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), 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-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-R981Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAMTSL3-T1660Ihomozygous0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC12A1-L658Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC12A1-V958Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO1C-Q957*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MYO1C-V795Ihomozygous0.936Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1268Shomozygous0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*homozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-G129Dhomozygous0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhomozygous0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhomozygous0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD19-R514Hhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.944 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25BC037579-L308Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC037579-P306Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC037579-P305Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UTP20-E294Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UTP20-L1882Qhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-V174Ahet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25PABPC3-R287Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-Q292*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PABPC3-V293Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-E345*het unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (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
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PER1-A962Phomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.212 (possibly damaging)
0.25PER1-R892Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-R190Whet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
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-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCN1A-A1056Thet unknown0.724Unknown
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
0.25ZNF439-E13*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF439-R315Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ZNF439-L427Shomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C17orf57-V312Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-Y546*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC48-R191Whomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO15A-K31Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C17orf80-F356LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf80-H395NhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf80-C396RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf80-Q420HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf80-A522ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf80-S527Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0POR-I488Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0CREBBP-P1953Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,743,408,816 bases (96.0% of callable positions, 89.1% of total positions)

Coding region coverage: 31,312,415 bases (94.1% of all genes, 95.0% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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