huE2D0CA - GET-Evidence variant report

Variant report for huE2D0CA

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1RYR2-G1886SHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0613424Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.1
2FCN3-L117ShiftModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0234375Speculated to cause immunodeficiency in a patient with serious, repeated infections. A large set of patients was examined (1282) and this variant is not extremely rare (1.1% allele frequency), and so this single observation had no statistical significance. Additionally, if this phenotype is relatively rare (1% or less), then a strong disease effect in homozygotes should have resulted in many more homozygotes in the patient cohort. The lack of this observation casts significant doubt on any pathogenic hypothesis.1
3MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
4COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
5PRF1-A91VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0325339This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.1
6RNASEL-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
7HFE-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
8SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
9WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
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
10BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
11TP53-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
12DPYD-M166VHighLikelyLikely pharmacogenetic

Unknown, Heterozygous
0.0778955Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. 1
13rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Homozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
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
15TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 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
18BRCA2-T1915MLowUncertainUncertain protective

Unknown, Heterozygous
0.0205429Serrano-Fernández et al. found this variant to be associated with a modest (OR = 1.61) but significant (P = 0.0007) reduction in breast cancer risk. 1
19IRS2-G1057DLowUncertainUncertain protective

Unknown, Homozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
20TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
21ADA-D8NLowLikelyLikely benign

Dominant, Heterozygous
0.0295359This common variant is reported to reduce adenosine deaminase enzyme activity. It has been associated with an increased tendency for non-REM sleep -- more slow wave sleep, less nocturnal wakings, and a stronger negative impact of sleep deprivation. A role for this gene and variant was previously proposed for autism susceptibility, but this is controversial and was not replicated by later studies.1
22CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
23DMD-R2155WLowLikelyLikely benign

Unknown, Heterozygous
0.0269529Probably benign.1
24NEFL-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
25EPOR-N487SLowLikelyLikely benign

Unknown, Heterozygous
0.00557724Reported to cause familial erythrocytosis in a dominant fashion, as recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000018068/). This assertion comes from Le Couedic et al 1996 (PMID: 8608241), who studied 47 cases of erythroleukemia and polycythemia. In contrast to OMIM's record, Le Couedic et al do not seem to have asserted the variant causes familial disorder; rather, they seem to hypothesize it is a somatic mutation playing a role in cancer development. (Tangentially, this hypothesis is probably also mistaken, as ExAC allele frequency data indicates the variant often inherited.) The assertion recorded in ClinVar may reflect a mistake in transcription or interpretation of this literature.1
26OCA2-R419QLowLikelyLikely benign

Unknown, Homozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
27PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
28COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
29FANCI-P55LLowLikelyLikely benign

Unknown, Heterozygous
0.0507529Probably benign.1
30EFHC1-R182HLowLikelyLikely benign

Unknown, Heterozygous
0.0439673Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.1
31RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Homozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
32LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
33MAPT-R370WLowUncertainUncertain benign

Unknown, Homozygous
0.155549Probably benign.1
34PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
35VWF-G2705RLowUncertainUncertain benign

Unknown, Heterozygous
0.0460123Probably benign, seems to be considered an uncommon polymorphism.1
36ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
37ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
38APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
39GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
40PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
41PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
42TYR-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
43TXNDC3-I338TLowUncertainUncertain benign

Unknown, Heterozygous
0.0377604Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis).1
44TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
45TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
46USH2A-V230MLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0157092This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic).1
47RP1-N985YLowUncertainUncertain benign

Unknown, Homozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
48SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
49TERT-A279TLowUncertainUncertain benign

Unknown, Heterozygous
0.0200037Reported as a rare but probably nonpathogenic polymorphism occurring in controls as well as patients. Other defects in this gene are associated with telomere shortening which may cause aplastic anemia or dyskeratosis congenita.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31701562 / 33212919 = 95.45%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.5149885956337629776138955553-955753, 957605-957648, 957660-957805, 957815-957834, 970657-970704, 976118-976136, 976145, 976168-976187, 976194-976260, 976564, 976570-976645, 976652-976700, 976718-976770, 976858, 976864-976899, 976973-976998, 977026, 977412-977435, 977485-977491, 978619, 978629-978631, 978650-978651, 978685-978711, 978714-978728, 978740-978766, 978786-978808, 978918-978931, 978954, 978960-978963, 979007-979069, 979092-979112, 979207, 979211, 979248-979249, 979255-979256, 979305-979322, 979365-979403, 979491-979539, 979577-979593, 979599-979627, 979714-979721, 979726-979727, 979735, 979758-979762, 979771, 980566-980630, 980650-980657, 980755, 980760-980789, 981113-981118, 981149-981179, 981224-981230, 981242, 981399, 981442-981452, 981557-981564, 981609-981616, 981628, 981777-981900, 981914, 981923-982006, 982029-982088, 982200-982228, 982245-982297, 982707, 982729-982740, 982777-982779, 982980-982983, 982990, 982994-982996, 983163-983167, 983180-983192, 983215-983236, 983392-983424, 983434-983469, 983478-983480, 983491, 983500-983521, 983551, 983554-983558, 983565-983567, 983571-983580, 983587-983745, 984256, 984280-984419, 984436-984439, 984616-984716, 984726-984776, 984794-984814, 984826-984827, 984831, 984946-984954, 984959-984965, 985049-985074, 985099-985124, 985137-985141, 985149-985164, 985168-985173, 985283-985286, 985301, 985314-985338, 985365-985381, 985398-985415, 985613-985628, 985807-985812, 985855-985902, 986106-986107, 986165, 986172-986174, 986184-986190, 986203-986217, 986638-986656, 986664, 986674-986737, 986833-986870, 986886, 986904, 986930-986977, 986996-987013, 987132-987179, 989303, 989859-989863, 989867, 989888-989891, 989906-989931, 990235-990250, 990265, 990280, 990313-990335
2GABRD10.6975717439293641113591950863-1950930, 1956428-1956429, 1956465, 1956820-1956831, 1956836-1956840, 1956957-1956985, 1957026-1957029, 1957035-1957036, 1957124-1957131, 1957135-1957137, 1957147, 1957159, 1959594-1959604, 1959635, 1959642, 1959694-1959731, 1960550-1960577, 1960600-1960609, 1960645-1960676, 1960704, 1960991-1961014, 1961036-1961081, 1961174-1961201, 1961422-1961437, 1961462-1961469, 1961497, 1961620, 1961623-1961625, 1961669, 1961678-1961702
3PEX1010.81447502548421829812337231-2337249, 2337923-2337946, 2337991-2337994, 2338253-2338261, 2338319-2338327, 2339937, 2340016, 2340159, 2340259, 2340267-2340270, 2343830-2343938
4NPHP410.918710581639834842815925315-5925333, 5926433, 5934695-5934699, 5935062-5935063, 5935154, 5947455-5947499, 5950940-5950956, 5950985, 6029170-6029210, 6029251, 6029255, 6029287-6029303, 6029314-6029319, 6038330-6038473, 6046215-6046228, 6046251-6046271, 6046282, 6046294, 6046309, 6046341-6046349
5ESPN10.7730994152046858225656485028-6485091, 6485099-6485179, 6485194-6485228, 6485242-6485309, 6488286-6488295, 6488330-6488336, 6488373-6488392, 6488426-6488433, 6488441-6488479, 6500382-6500392, 6500470, 6500482-6500483, 6500485, 6500691, 6500704-6500729, 6500751-6500798, 6500830-6500868, 6505851-6505860, 6505865, 6505914-6505920, 6508760-6508766, 6508851-6508888, 6508922-6508928, 6509053-6509060, 6512106-6512148
6PLEKHG510.974913766070878031896529713-6529716, 6530841-6530856, 6531124, 6531841-6531845, 6534520, 6535162-6535163, 6535181-6535193, 6556596-6556629, 6557380-6557383
7KIF1B10.9968003011481317531310381826-10381841, 10402120
8PEX1410.85890652557319160113410535042-10535053, 10659335, 10683168-10683178, 10684397-10684398, 10684423-10684464, 10687396-10687397, 10689588-10689609, 10689681-10689700, 10689775-10689799, 10690004-10690017, 10690019-10690027
9TARDBP10.9871485943775116124511082356-11082362, 11082585-11082591, 11082594, 11082602
10MASP210.90878214459188206111086962-11086969, 11097753, 11102934-11102936, 11102949-11102998, 11103020, 11103041, 11103056-11103058, 11103062-11103064, 11103069-11103079, 11103408, 11103428-11103448, 11103471, 11103474, 11103482-11103484, 11103546, 11103553-11103554, 11103571, 11103577, 11103587, 11105490-11105522, 11106659-11106662, 11106752, 11106985, 11107147-11107176, 11107260-11107264
11MTHFR10.9731100963977753197111854100, 11854105-11854114, 11854559-11854561, 11854844-11854849, 11855345-11855355, 11855390-11855400, 11860283, 11861305, 11861320, 11863100-11863101, 11863109-11863114
12PLOD110.9706959706959764218412023671, 12023676, 12023687, 12024313, 12024829-12024836, 12025600, 12026318-12026334, 12026341-12026353, 12026362-12026373, 12030841, 12030846-12030851, 12030868, 12030873
13MFN210.9898856640281423227412049251, 12066730-12066750, 12067169
14CLCNKA10.86676356589147275206416353253-16353260, 16354391-16354397, 16355327-16355333, 16355628, 16355637, 16355705-16355707, 16355741-16355749, 16356234-16356241, 16356272-16356293, 16356519, 16356522-16356525, 16356528-16356533, 16356537-16356539, 16356545, 16356956-16356968, 16356980-16357016, 16357061-16357063, 16357094-16357129, 16358268-16358274, 16358303, 16358324-16358338, 16358757-16358781, 16358938-16358951, 16359018, 16360106-16360147
15CLCNKB10.91036821705426185206416371067, 16372069, 16372146, 16373044-16373050, 16373118-16373127, 16375635-16375664, 16376118-16376133, 16377491-16377493, 16377527, 16378214, 16378696, 16378702-16378704, 16378766-16378768, 16378835-16378857, 16378872-16378906, 16380196, 16380225, 16380265-16380267, 16382203, 16382231-16382232, 16382235-16382237, 16382933-16382959, 16383364-16383367, 16383399-16383405
16ATP13A210.95371154388936164354317312719, 17313046-17313061, 17313598-17313627, 17314819, 17314878, 17318620-17318622, 17320278-17320284, 17322490-17322498, 17322537, 17322570-17322584, 17322784, 17322926, 17322944, 17323615-17323662, 17326507-17326518, 17326555-17326571
17ALDH4A110.994680851063839169219209773, 19212986-19212993
18ALPL10.998095238095243157521887119, 21890705, 21894714
19HSPG210.974650880388593341317622150856-22150869, 22151198-22151200, 22151260, 22151266-22151271, 22154388-22154412, 22154749-22154750, 22155369-22155398, 22167777-22167778, 22168119-22168122, 22176953, 22181200-22181204, 22181423-22181424, 22181852-22181861, 22182041-22182046, 22186061-22186067, 22186402-22186404, 22186705-22186713, 22188250-22188267, 22188555-22188562, 22190635-22190642, 22191454, 22191787, 22198781-22198782, 22199142-22199145, 22199253, 22199503-22199532, 22201202, 22202518-22202535, 22207256-22207258, 22211152-22211167, 22211328-22211338, 22211815-22211818, 22216920-22216928, 22216973-22216978, 22263648-22263710
20WNT410.9479166666666755105622469342-22469379, 22469383, 22469400-22469415
21RPL1110.99813780260708153724020398
22HMGCL10.9959100204499497824134721-24134724
23FUCA110.9771591720199932140124175157-24175161, 24180870-24180876, 24186382-24186390, 24194421, 24194718-24194720, 24194770-24194776
24SEPN110.88069544364508199166826126722-26126904, 26131720-26131726, 26136233-26136241
25YARS10.9911783238815414158733252030-33252043
26KCNQ410.9722222222222258208841249766-41249786, 41249870-41249872, 41249934-41249967
27CLDN1910.99703703703704267543204192-43204193
28EIF2B310.994113318616638135945345664, 45392315-45392321
29POMGNT110.995965708522448198346661564-46661566, 46663374, 46663416-46663419
30ORC110.999226604795052258652841129, 52850286
31DHCR2410.996131528046426155155337048-55337052, 55340840
32PCSK910.9947089947089911207955505511, 55505553-55505555, 55521720-55521726
33ALG610.997385620915034153063836680-63836683
34CTH10.993431855500828121870904418-70904425
35DPYD10.998050682261216307897848012-97848017
36AGL10.99565122852794204599100346320, 100357242-100357257, 100358114-100358115, 100387207
37DBT10.9986197377501721449100684183, 100706357
38COL11A110.99450247388675305457103364238, 103364241-103364257, 103364497-103364499, 103488305, 103488381-103488385, 103544344-103544345, 103544349
39GSTM110.42465753424658378657110230496-110230531, 110230792-110230796, 110230828-110230832, 110230854, 110230858-110230861, 110230867, 110231295-110231302, 110231307-110231313, 110231354, 110231690-110231734, 110231847-110231856, 110231862-110231947, 110232903-110232988, 110233076-110233145, 110233166, 110233175-110233186
40AMPD110.998217468805742244115217410-115217413
41CASQ210.94583333333333651200116243862-116243885, 116243909-116243949
42NOTCH210.98826860841424877416120539668, 120539687, 120539691, 120539711, 120539720, 120539742, 120539778-120539784, 120539913-120539939, 120548025, 120548030, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120572609-120572610, 120611964, 120611980-120612010
43PRPF310.9980506822612142052150305651, 150315804-150315806
44FLG10.86410635155096165612186152276458-152276493, 152276715-152276761, 152276871, 152276886, 152276889, 152277035, 152277075, 152277084, 152277103, 152277106, 152277378, 152277437, 152277819-152277845, 152278046-152278052, 152278400-152278437, 152279213-152279214, 152279265, 152279372-152279409, 152279630-152279645, 152279672-152279696, 152279808, 152279889-152279917, 152279949-152279977, 152280171, 152280186, 152280240, 152280250, 152280295, 152280369-152280381, 152280605-152280606, 152280614, 152280628, 152280646-152280653, 152280773-152280779, 152280999-152281029, 152281112, 152281209, 152281282-152281328, 152281350-152281393, 152281441, 152281452, 152281570-152281605, 152281618-152281624, 152281748-152281751, 152281821-152281823, 152281857-152281877, 152281880, 152281908-152281950, 152282075-152282133, 152282153, 152282237-152282238, 152282275-152282314, 152282415-152282451, 152282789-152282815, 152282949-152282959, 152283023, 152283046, 152283153-152283196, 152283249-152283294, 152283306, 152283351, 152283364, 152283378, 152283407-152283438, 152283711-152283717, 152283859-152283894, 152284076-152284087, 152284114, 152284140-152284189, 152284241-152284280, 152284319-152284348, 152284447-152284453, 152284524, 152284610, 152284811-152284817, 152284854, 152284932, 152284996-152284997, 152285000, 152285053-152285055, 152285097-152285140, 152285155-152285233, 152285241-152285247, 152285277-152285339, 152285410-152285428, 152285469-152285496, 152285577, 152285580, 152285643-152285690, 152285999-152286025, 152286072-152286089, 152286252, 152286271, 152286294-152286313, 152286342-152286344, 152286349, 152286354-152286357, 152286439-152286469, 152286606-152286611, 152286694-152286706, 152286726-152286731, 152286758-152286759, 152286841-152286854, 152286885-152286896, 152287009, 152287012-152287045, 152287055-152287103, 152287175-152287196, 152287200-152287209, 152287893, 152287900
45PKLR10.9994202898550711725155269991
46SEMA4A10.9978127734033252286156131164-156131168
47NTRK110.9866164784609322391156830754-156830783, 156830790-156830791
48F510.9949063670412346675169510337-169510370
49DARS210.9963880288957771938173797501, 173802620, 173807389, 173807395-173807397, 173810012
50SERPINC110.9985663082437321395173879899, 173879903
51HMCN110.999171989590731416908185892523-185892524, 185892737-185892740, 185953326, 185962392-185962393, 185964179, 185970545-185970546, 185970813, 185972954
52CFH10.99729437229437103696196648807, 196659202-196659210
53CFHR510.9976608187134541710196967337-196967340
54ASPM10.993962047153546310434197070025-197070035, 197070471, 197071743-197071753, 197072154-197072157, 197072210-197072218, 197072451-197072455, 197072546-197072551, 197073962-197073967, 197074102, 197091320-197091328
55CRB110.9981047145226284221197316552-197316558, 197396623
56USH2A10.993401242872710315609215848080-215848086, 215916524, 215916619-215916641, 215955442, 216363624-216363636, 216370026, 216496826-216496830, 216496835-216496867, 216496896, 216496927-216496935, 216496945-216496952, 216497685
57PSEN210.99034892353378131347227071595-227071607
58ADCK310.95524691358025871944227152715, 227152803-227152805, 227152916-227152935, 227152983, 227169750-227169797, 227170461, 227171802-227171803, 227171926-227171936
59GJC210.770454545454553031320228345460-228345461, 228345629-228345663, 228345705, 228345912-228345915, 228346026-228346102, 228346109-228346113, 228346228-228346231, 228346243, 228346300-228346315, 228346323-228346330, 228346343, 228346355-228346357, 228346375-228346459, 228346475-228346481, 228346513, 228346524-228346532, 228346541, 228346579-228346590, 228346605, 228346614-228346621, 228346667-228346674, 228346696, 228346705-228346710, 228346713-228346717, 228346733, 228346740
60ACTA110.9991181657848311134229568131
61GNPAT10.9980420949583942043231411899-231411902
62LYST10.99824653691042011406235827297, 235875357-235875358, 235884193-235884194, 235896952, 235907347-235907359, 235933523
63RYR210.995840042941496214904237729967-237729987, 237814768-237814770, 237821244-237821277, 237821322, 237823310, 237868625, 237870523
64GATA3100.99775280898876313358100744-8100746
65OPTN100.9930795847750912173413151249-13151260
66DCLRE1C100.9980759980764207914970015-14970018
67CUBN100.9981604120677201087217142025-17142033, 17142044-17142054
68PTF1A100.99696048632219398723481750, 23481899-23481900
69MYO3A100.999793856936711485126417435
70PDSS1100.999198717948721124827035395
71MASTL100.94008342813804158263727448548-27448578, 27450107-27450111, 27459105-27459114, 27459313-27459333, 27459528-27459569, 27459595-27459601, 27459770-27459776, 27459868-27459871, 27459924-27459926, 27459979-27460005, 27469959
72RET100.9805680119581565334543572707-43572749, 43572762-43572775, 43623710-43623717
73ERCC6100.998438197233387448250740789-50740791, 50740837-50740840
74CHAT100.998219848687144224750822266-50822269
75PCDH15100.9910001698081253588955755513-55755516, 56128943-56128991
76KIAA1279100.99839228295823186670760273-70760275
77CDH23100.97553699284012461005673439145-73439159, 73439185-73439208, 73442229-73442230, 73442236, 73442315-73442318, 73447404-73447406, 73447409, 73447462-73447471, 73453942, 73455253, 73461839-73461853, 73461906, 73461957-73461968, 73462316-73462324, 73462330-73462334, 73462337-73462339, 73462350-73462386, 73462433, 73462441-73462451, 73464694, 73464729-73464735, 73464757-73464775, 73464832-73464845, 73464877-73464878, 73464886, 73466781, 73468932, 73490252, 73490291, 73491927, 73537479-73537509, 73537952, 73539039, 73556866-73556870, 73571716-73571718
78LDB3100.9624542124542182218488441479-88441505, 88466319, 88466463-88466465, 88476084-88476093, 88476098, 88476164-88476165, 88476171-88476175, 88476200-88476210, 88476218, 88476241-88476242, 88476265-88476273, 88476338-88476342, 88476413, 88476449, 88476468, 88477830, 88477834
79BMPR1A100.996247654784246159988635828-88635832, 88683146
80GLUD1100.9725700655933246167788854452-88854495, 88854522-88854523
81LGI1100.998805256869772167495518049-95518050
82PLCE1100.9968157475756322690996068405-96068410, 96073039, 96076357-96076368, 96076376-96076378
83HPS1100.9639126305793762106100177347, 100177361-100177429, 100177947-100177950, 100177954, 100177958
84HPS6100.98926116838488252328103825370-103825373, 103825451-103825452, 103825728-103825742, 103826579-103826582
85SHOC2100.9994282447112611749112769141
86HTRA1100.98059598059598281443124221198-124221199, 124221203-124221208, 124221211-124221224, 124221256-124221261
87OAT100.96818181818182421320126086527-126086539, 126097340-126097368
88UROS100.992481203007526798127503614-127503619
89HRAS110.6859649122807179570532639, 532642, 532646-532647, 532652, 532698-532738, 533767-533833, 533881, 533889-533902, 533908, 533913, 533932-533938, 534235-534243, 534290-534322
90TALDO1110.822485207100591801014747505-747536, 747556-747557, 747564-747571, 760135-760137, 763344-763388, 763391, 763396, 763429-763442, 763467-763476, 763514-763519, 763865, 763891-763939, 764331-764336, 764380, 764832
91SLC25A22110.51440329218107472972791973-792006, 792055-792068, 792142-792211, 792317-792326, 792436-792458, 792559, 792564-792566, 792569-792581, 792635-792707, 792870-792972, 793546-793578, 794495-794513, 794776-794788, 794795-794828, 794885, 794894-794901, 794987-795006
92PNPLA2110.674587458745874931515819719-819842, 819857, 819863-819897, 821641-821646, 821695-821727, 821735, 821746-821756, 822022-822023, 822498-822501, 822532, 823533, 823553, 823584, 823694, 823749-823761, 823787-823796, 823805, 823809, 824003-824004, 824011-824028, 824031-824036, 824039-824041, 824062-824080, 824093-824130, 824328, 824364-824388, 824423-824436, 824555-824557, 824600-824620, 824656-824692, 824715-824764, 824789, 824842, 824856-824862
93CTSD110.7167070217917735112391774894-1774900, 1775033-1775048, 1775128-1775131, 1775224-1775225, 1775292-1775294, 1775312-1775354, 1778567-1778588, 1778599, 1778612-1778618, 1778670-1778673, 1780199-1780245, 1780285-1780317, 1780756-1780775, 1780825-1780845, 1780848-1780849, 1782539-1782552, 1782594, 1782657-1782692, 1785022-1785089
94TNNI2110.792349726775961145491861633-1861653, 1861763-1861780, 1861791-1861800, 1861809, 1861826-1861886, 1862054-1862055, 1862699
95TNNT3110.118404118404126857771944118, 1944278-1944282, 1944785-1944802, 1946329-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953699-1953744, 1954951-1955067, 1955161-1955174, 1955180-1955238, 1955562-1955675, 1955776-1955885, 1956059-1956088, 1956100-1956120, 1956136-1956138, 1956141-1956149, 1958193-1958233, 1959670, 1959689-1959708
96H19110.99626517273576410712017421, 2018347, 2018359, 2018364
97IGF2110.291139240506335047112154217-2154450, 2154747-2154883, 2156597-2156605, 2156640, 2156645-2156648, 2156657, 2156663, 2156668-2156669, 2156675-2156683, 2156689, 2156693, 2156707-2156713, 2156726-2156759, 2161365-2161379, 2161409, 2161427-2161428, 2161434-2161439, 2161460, 2161486-2161523
98TH110.052063492063492149315752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189409, 2189721-2189837, 2189847-2189895, 2190880-2191063, 2191070-2191101, 2191920-2192000, 2192927-2192949
99KCNQ1110.9064500246184119020312466329-2466379, 2466385-2466414, 2466430, 2466433-2466443, 2466451-2466454, 2466469-2466470, 2466479-2466480, 2466526-2466549, 2466558-2466561, 2466606, 2466609-2466610, 2466646-2466653, 2466680, 2466683-2466712, 2593327-2593337, 2604670-2604677
100CDKN1C110.0988433228180868579512905234-2905236, 2905239-2905250, 2905253-2905283, 2905288-2905289, 2905304-2905340, 2905900-2906620, 2906631, 2906634-2906646, 2906666-2906701, 2906718
101HBD110.9842342342342374445255652-5255658
102SMPD1110.99947257383966118966411935
103SBF2110.99963963963964255509868512-9868513
104USH1C110.999259259259262270017565827, 17565830
105HPS5110.999705014749261339018313187
106ANO5110.996353026987610274222271891, 22277034-22277039, 22277066, 22301163, 22301233
107SLC35C1110.997159090909093105645827423, 45827529, 45827835
108PEX16110.999039385206531104145937373
109F2110.9860888175494926186946747425, 46747454-46747455, 46747477-46747478, 46747495, 46747569, 46747664-46747666, 46748125-46748140
110MYBPC3110.9926797385620928382547367917-47367921, 47368989-47368992, 47370050, 47370079-47370089, 47372097, 47372795, 47372829, 47372932-47372934, 47372949
111SLC39A13110.998207885304662111647436428, 47436433
112RAPSN110.9782082324455227123947464270-47464272, 47469548-47469549, 47469552, 47469591-47469598, 47469692, 47470353, 47470360, 47470367-47470370, 47470416-47470418, 47470424-47470425, 47470516
113GIF110.999202551834131125459608691
114TMEM216110.99242424242424226461165272, 61165741
115BSCL2110.996400287976965138962469946-62469949, 62469971
116SLC22A12110.88447653429603192166264359106-64359115, 64359173, 64359181, 64359192-64359201, 64359265-64359268, 64359290-64359294, 64360331-64360354, 64361179, 64361206-64361219, 64361271-64361272, 64366395, 64367155-64367189, 64367196, 64367211-64367248, 64367254-64367289, 64367317-64367325
117PYGM110.9762752075919360252964521027, 64521040-64521041, 64521069, 64521464-64521469, 64521472-64521473, 64521479, 64521743, 64521776-64521797, 64526091, 64526149, 64527128-64527149
118MEN1110.9918831168831215184864571866, 64573197-64573210
119EFEMP2110.999249249249251133265636083
120CST6110.99555555555556245065780301, 65780335
121BBS1110.999438832772171178266278699
122SPTBN2110.9973511780287219717366468413, 66468427, 66472711-66472712, 66475247-66475254, 66475631, 66481171-66481172, 66481567, 66481876-66481878
123PC110.9915182357930430353766617288, 66617326, 66617329, 66618298, 66620037-66620042, 66620046-66620049, 66620071, 66620083, 66620100-66620104, 66631353-66631354, 66631400, 66631405, 66631421, 66638942-66638945
124CABP4110.974637681159422182867223024, 67223189-67223205, 67223208, 67225945-67225946
125AIP110.5800604229607341799367256744-67256751, 67256767-67256797, 67256812-67256815, 67256820-67256840, 67256882-67256886, 67257509, 67257525-67257531, 67257534-67257544, 67257556-67257592, 67257606-67257611, 67257616-67257646, 67257651-67257652, 67257659, 67257681-67257685, 67257787-67257794, 67257804-67257928, 67258259-67258313, 67258336-67258361, 67258389-67258391, 67258406-67258409, 67258417-67258418, 67258435-67258458
126NDUFS8110.958925750394942663367800390-67800391, 67800430-67800445, 67800583-67800584, 67800598, 67800602, 67800684-67800685, 67803779-67803780
127TCIRG1110.9651022864019387249367810197-67810201, 67810259-67810267, 67810271-67810272, 67810296-67810297, 67810462-67810468, 67810930-67810934, 67811074-67811076, 67811304-67811307, 67811352-67811357, 67811373-67811374, 67811737, 67811769-67811780, 67814918-67814923, 67815439, 67816401, 67816448-67816450, 67816591, 67816720-67816725, 67817171-67817177, 67817527, 67817624-67817625, 67818078
128LRP5110.96493399339934170484868080183-68080272, 68131277-68131293, 68131352, 68131358-68131363, 68131404-68131410, 68174240-68174245, 68197152-68197157, 68204405-68204410, 68207307-68207312, 68207346-68207350, 68213955-68213974
129CPT1A110.9888027562446226232268527726-68527734, 68540799-68540811, 68542898-68542900, 68562371
130IGHMBP2110.999329309188462298268671424-68671425
131DHCR7110.999299719887961142871148929
132FOLR1110.99483204134367477471906390-71906393
133MYO7A110.797833935018051344664876853863-76853865, 76868025-76868026, 76873267, 76873354, 76883835-76883854, 76885803-76885821, 76885846-76885863, 76885905-76885948, 76886418-76886435, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891453, 76891459-76891486, 76891498-76891527, 76892426-76892481, 76892506-76892615, 76892630-76892635, 76892997-76893200, 76893474-76893528, 76893545-76893592, 76893610-76893645, 76894113-76894117, 76894132-76894136, 76894161-76894202, 76895678-76895685, 76895733-76895754, 76900393-76900414, 76901065-76901070, 76901108, 76901138-76901156, 76901762-76901805, 76903274-76903309, 76910590-76910591
134ALG8110.9740670461733141158177812059, 77812085-77812095, 77812233-77812239, 77815067, 77815088-77815098, 77817984, 77820599-77820600, 77820610-77820611, 77820624, 77823727-77823728, 77825022-77825023
135DYNC2H1110.996755504055624212945102984344-102984351, 102988543, 102991500-102991520, 102991529-102991531, 103043811-103043818, 103270392
136ATM110.99607458292444369171108098555, 108098562-108098563, 108098567-108098583, 108098586, 108098592, 108098605-108098615, 108117766-108117767, 108160504
137RDX110.98801369863014211752110126059-110126073, 110128572-110128577
138FXYD2110.9543378995433820438117693255, 117693270, 117695369-117695386
139CD3G110.994535519125683549118215182-118215184
140TECTA110.9996906419180226465120989388-120989389
141ACAD8110.9943910256410371248134130988-134130994
142WNK1120.9984674329501921305978056-978057
143WNK1120.99580360889635307149862893-862913, 968520, 994805-994812
144CACNA2D4120.99912126537786334141906664, 1906667, 1993425
145CACNA1C120.991312299954285765612622074-2622075, 2622081-2622089, 2622118, 2676735, 2676846-2676861, 2690951-2690963, 2706639-2706641, 2774040-2774042, 2774051, 2794934-2794940, 2797888
146VWF120.993840322198535284426058969-6058975, 6128342, 6128354, 6131926-6131961, 6132027-6132033
147SCNN1A120.99862825788752321876457307, 6458570-6458571
148TPI1120.98133333333333147506979275-6979281, 6979461-6979467
149ABCC9120.9972043010752713465022025633, 22063836-22063842, 22078915-22078919
150KRAS120.943859649122813257025380188-25380206, 25380270, 25380277-25380281, 25380284-25380290
151FGD4120.9939156888309414230132734918, 32735032-32735035, 32778653-32778661
152DNM1L120.995929443690649221132866151, 32866174, 32883965-32883971
153PKP2120.998408910103424251433003806-33003809
154KIF21A120.99979943842761498639705246
155LRRK2120.9973628691983120758440626183-40626185, 40753098-40753099, 40753206, 40757307-40757315, 40761532-40761533, 40761536-40761538
156COL2A1120.999103942652334446448373844-48373845, 48389038, 48393809
157MLL2120.97526182737454111661449426602-49426698, 49426726-49426791, 49426855-49426861, 49426896-49426928, 49427027, 49427031-49427033, 49427057-49427083, 49427108-49427131, 49427160, 49427221-49427229, 49427239-49427240, 49427260-49427268, 49427270, 49427273, 49430994, 49431020-49431030, 49431287-49431305, 49431351, 49431356-49431366, 49431383, 49431432, 49431512-49431518, 49431539-49431541, 49431550-49431551, 49431555-49431561, 49431698-49431701, 49431734-49431737, 49431806-49431843, 49431961, 49432004, 49432046-49432052, 49432315-49432318, 49433323-49433325, 49433332, 49434096-49434098
158TUBA1A120.910087719298254145649522213, 49522235-49522270, 49522445, 49522457, 49522468, 49522575
159AQP2120.99142156862745781650344659-50344665
160KRT81120.9624505928853857151852681437, 52682999-52683005, 52684021-52684061, 52685231-52685238
161KRT86120.993839835728959146152696927-52696933, 52697952, 52699548
162KRT83120.995276653171397148252713119-52713125
163KRT6B120.9569321533923373169552843632-52843637, 52844243, 52844246, 52845432-52845438, 52845528-52845534, 52845571-52845604, 52845677-52845686, 52845798-52845804
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169ITGA7120.999708114419151342656086651
170KIF5A120.998709261051954309957965923-57965926
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172TMPO120.999520383693051208598928099
173GNPTAB120.9997348183505713771102159058
174MMAB120.988047808764949753109998906-109998909, 109999229-109999233
175TRPV4120.98967889908257272616110221446, 110230592-110230597, 110236536, 110246171-110246173, 110252219-110252234
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178HPD120.98900169204738131182122287656-122287666, 122294523-122294524
179PUS1120.99065420560748121284132414516-132414526, 132416727
180SACS130.9981077147016261374023907630, 23908434-23908439, 23913004-23913011, 23913245-23913251, 23913498-23913501
181BRCA2130.99766013454226241025732911436-32911451, 32912112-32912114, 32912223-32912224, 32912315, 32912705-32912706
182SUCLA2130.9748563218390835139248528293-48528304, 48570979, 48570982, 48570986, 48570991, 48571062-48571080
183ATP7B130.9956798544793119439852523867-52523885
184EDNRB130.999247554552291132978492241
185ZIC2130.93933708567855971599100634593-100634597, 100635008-100635013, 100637319, 100637698-100637703, 100637745, 100637807-100637856, 100637909-100637936
186PCCA130.9967992684042172187101101506-101101512
187F7130.328089887640458971335113760156-113760219, 113765010-113765016, 113765037-113765084, 113765094-113765099, 113765105-113765127, 113765130-113765131, 113765150, 113768066-113768088, 113768163, 113768166-113768173, 113768209-113768226, 113768268-113768274, 113769984-113770048, 113770063-113770100, 113770111-113770114, 113771080-113771117, 113771163-113771189, 113771787-113771821, 113771848-113771869, 113771877-113771900, 113772734, 113772738, 113772745-113772778, 113772801-113772808, 113772812-113772819, 113772840-113772871, 113772878-113772982, 113772999-113773114, 113773133-113773177, 113773183-113773194, 113773224-113773265, 113773269-113773273, 113773296-113773322
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189GRK1130.923758865248231291692114321783-114321818, 114321840-114321860, 114321924-114321925, 114322017-114322027, 114322141, 114322368, 114324037, 114324040, 114324109-114324117, 114325821-114325835, 114325838, 114325943, 114325946-114325964, 114435895-114435902, 114435944, 114436058
190TEP1140.998985286656528788420876282, 20876369-20876375
191RPGRIP1140.9994819994822386121785926, 21795922
192MYH6140.9874570446735473582023858193, 23868004-23868044, 23870021-23870030, 23871934-23871942, 23871996-23872007
193TGM1140.9869600651996732245424724010, 24724237-24724246, 24724293-24724310, 24727520, 24727777-24727778
194FOXG1140.82993197278912250147029236495-29236497, 29236662-29236725, 29236759-29236803, 29236809-29236812, 29236823-29236949, 29237311-29237317
195FANCM140.999674638034812614745623952, 45623972
196L2HGDH140.996408045977015139250735890-50735894
197ATL1140.9909747292418815166251057666-51057673, 51057764-51057768, 51095022, 51099037
198PYGL140.997248427672967254451381434-51381440
199SYNE2140.9998069870681342072464430715, 64497839-64497840, 64497930
200ZFYVE26140.99908136482947762068238784, 68241733-68241734, 68242688-68242691
201VSX2140.994475138121556108674706265-74706269, 74706477
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204POMT2140.9849090102086134225377786943-77786976
205SPATA7140.999444444444441180088904698
206TTC8140.998708010335922154889310173, 89343709
207ATXN3140.9880294659300213108692559650-92559662
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209INF2140.4213333333333321703750105167703-105167719, 105167736-105167759, 105167767-105167768, 105167784, 105167821-105167878, 105167895, 105167902-105167907, 105167911-105167955, 105167969-105167996, 105168007-105168009, 105168036-105168089, 105169448-105169491, 105169494-105169503, 105169519, 105169637-105169673, 105169684, 105169728-105169771, 105169791, 105170253-105170268, 105170277, 105170281, 105172372-105172429, 105172454-105172456, 105172486-105172506, 105172509, 105173267-105173268, 105173294, 105173306-105173309, 105173313-105173314, 105173359-105173370, 105173590-105173602, 105173651, 105173676, 105173679-105173680, 105173683-105173689, 105173715, 105173720, 105173724-105173783, 105173803-105173816, 105173856-105174225, 105174246-105174281, 105174285-105174288, 105174299-105174339, 105174773-105174812, 105174815, 105174821, 105174826-105174829, 105174832-105174849, 105174852-105174855, 105174864-105174870, 105174876-105174924, 105175020-105175041, 105175053-105175069, 105175628, 105175643-105175661, 105175682-105175685, 105175690, 105175957-105175973, 105175983, 105175997, 105176009-105176034, 105176425-105176473, 105176488-105176515, 105177277-105177283, 105177313, 105177319-105177344, 105177416-105177418, 105177428-105177523, 105177969-105178015, 105178770-105178784, 105178792, 105178815-105178842, 105178859, 105178890, 105179165-105179231, 105179257-105179319, 105179544-105179565, 105179599-105179637, 105179645-105179646, 105179782-105179855, 105179913-105179932, 105179941-105179943, 105180543-105180548, 105180560-105180572, 105180582, 105180592-105180617, 105180640-105180644, 105180652, 105180666, 105180670-105180698, 105180706, 105180733-105180738, 105180765, 105180776, 105180783, 105180827-105180855, 105180924-105180930, 105180958-105181026, 105181033-105181034, 105181060-105181066, 105181092-105181106, 105181127-105181172, 105181178-105181193, 105181640-105181647, 105181660-105181661, 105181666
210NIPA1150.8141414141414118499023062314-23062319, 23086234-23086411
211UBE3A150.9893455098934628262825584284-25584289, 25615777-25615783, 25616254, 25616768-25616781
212CHST14150.9451812555260862113140763430-40763452, 40763483-40763496, 40763523-40763534, 40763561-40763573
213STRC150.9911786786786847532843896303-43896312, 43900150-43900156, 43907745-43907752, 43908281-43908301, 43910440
214STRC150.9846153846153830195044007191-44007213, 44007757-44007763
215SPG11150.999045280960177733244912436-44912440, 44914515, 44918577
216DUOX2150.9952657628577622464745393456-45393471, 45399044, 45399083-45399086, 45403589
217SLC12A1150.999696969696971330048591409
218FBN1150.999651810584963861648784782-48784783, 48788397
219CEP152150.999597180261832496549076228-49076229
220CLN6150.99465811965812593668500486-68500490
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222MPI150.994496855345917127275190004, 75190009, 75190013-75190017
223PSTPIP1150.12070343725021100125177310489-77310589, 77310823-77310872, 77317625-77317630, 77317633, 77317641-77317643, 77317841, 77317847, 77317851, 77317859-77317871, 77317887-77317945, 77320193-77320227, 77320237-77320247, 77320251-77320253, 77320895-77320993, 77321870-77321915, 77322843-77322867, 77322887-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
224RPS17150.99754901960784140882823390
225RPS17150.99754901960784140883207733
226POLG150.997580645161299372089865052-89865053, 89865056, 89876828-89876833
227MESP2150.9631490787269744119490319626-90319627, 90319857-90319878, 90320135-90320149, 90320159-90320161, 90320173, 90320370
228BLM150.96520921485661148425491303425-91303465, 91303848, 91303857, 91304139, 91304203-91304204, 91304268-91304287, 91304297, 91337435-91337488, 91337526-91337542, 91337578-91337587
229HBZ160.7925407925407989429202909-202922, 202942-202946, 202994-202996, 203935, 203955, 203961-203962, 204032, 204067-204079, 204276-204315, 204360-204368
230HBA2160.983682983682987429223480-223486
231GNPTG160.89760348583878949181401967-1401995, 1402017, 1402103-1402106, 1402110-1402119, 1402130-1402160, 1402242-1402243, 1402246, 1402261, 1402294-1402307, 1412284
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233IGFALS160.6299171842650171519321840602-1840620, 1840635-1840702, 1840731-1840737, 1840763-1840773, 1840800-1840839, 1840845-1840884, 1840904, 1840907, 1840932-1840986, 1841023-1841025, 1841031-1841033, 1841036-1841042, 1841045, 1841058-1841076, 1841087-1841155, 1841214-1841264, 1841277, 1841280-1841302, 1841378-1841389, 1841410, 1841415-1841438, 1841463, 1841466, 1841523-1841527, 1841553-1841587, 1841596-1841624, 1841637-1841659, 1841697, 1841802, 1841860, 1841868, 1841928-1841962, 1841981, 1842004-1842005, 1842046-1842065, 1842100-1842115, 1842164, 1842168-1842176, 1842209, 1842258-1842265, 1842295-1842313, 1842324, 1842332, 1842350-1842353, 1842359-1842363, 1842374-1842387, 1842447-1842453, 1842505-1842508, 1842512-1842515, 1843645-1843653
234GFER160.296116504854374356182034220-2034258, 2034273, 2034276, 2034279-2034282, 2034305-2034391, 2034398-2034477, 2034748-2034760, 2034767-2034833, 2034844, 2034854-2034878, 2034893, 2034925-2034934, 2035867-2035887, 2035899-2035937, 2035977-2036019, 2036026-2036028
235TSC2160.24041297935103412054242098617-2098625, 2098642-2098684, 2098693-2098754, 2100408-2100447, 2103357-2103359, 2103377-2103453, 2104333-2104355, 2104408-2104409, 2104416-2104419, 2104423, 2105451, 2108748-2108760, 2108770-2108779, 2108786-2108874, 2110701-2110742, 2110767-2110803, 2111872-2111910, 2111927, 2111930, 2111934-2111941, 2111989-2112009, 2112503, 2112530-2112547, 2112976-2112980, 2112993-2113052, 2114273-2114282, 2114333, 2114344-2114349, 2114360-2114428, 2115524, 2115530, 2115563, 2115565-2115612, 2115629-2115636, 2120457-2120460, 2120467-2120540, 2120545-2120558, 2120562-2120575, 2121511-2121516, 2121523-2121534, 2121537-2121539, 2121542, 2121565, 2121596-2121602, 2121785-2121799, 2121802-2121812, 2121827-2121885, 2121905-2121935, 2122242-2122279, 2122289-2122293, 2122296-2122324, 2122326, 2122341-2122356, 2122363, 2122850-2122854, 2122885-2122895, 2122906, 2122931-2122937, 2122940, 2122944-2122982, 2124201-2124208, 2124224-2124390, 2125800-2125814, 2125837-2125843, 2125859-2125893, 2126069-2126071, 2126098-2126171, 2126492-2126586, 2127599-2127703, 2127709-2127727, 2129033-2129197, 2129277-2129428, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134241, 2134256-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138098, 2138106-2138135, 2138228-2138326, 2138447-2138611
236PKD1160.004724287484510512851129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144161, 2144175-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166058, 2166065-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185478-2185480, 2185508-2185542, 2185549-2185617, 2185625-2185690
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238MEFV160.988064791133842823463293620-3293642, 3294270, 3304682-3304683, 3306414, 3306421
239SLX4160.99527702089012655053639848-3639849, 3642762, 3642859, 3647812, 3651023-3651031, 3656647-3656658
240CREBBP160.993314231136584973293777767-3777773, 3778440-3778455, 3778790-3778791, 3778934-3778953, 3820640-3820642, 3830806
241GLIS2160.2031746031746125515754382307, 4382323-4382349, 4382383-4382440, 4382447-4382451, 4383349-4383371, 4383387-4383422, 4383445-4383447, 4383450-4383457, 4383505, 4384802-4384844, 4384867-4384978, 4385061-4385176, 4385189-4385194, 4385276-4385297, 4385323-4385365, 4385370-4385373, 4385377-4385379, 4386727-4386925, 4386940-4386971, 4386979-4386991, 4386998-4387242, 4387251-4387261, 4387264, 4387283-4387525
242ALG1160.7763440860215131213955121883, 5121886, 5127446-5127455, 5127502-5127511, 5128758-5128786, 5128815-5128879, 5129072, 5129080, 5129083, 5129093, 5129749-5129754, 5129771, 5130947-5131001, 5131010-5131026, 5131036-5131057, 5132660, 5133683-5133699, 5134751, 5134779-5134780, 5134813-5134882
243LITAF160.99794238683128148611647400
244MYH11160.999831649831651594015829268
245ABCC6160.86923758865248590451216253373, 16253381-16253382, 16253395-16253409, 16255303-16255305, 16255340-16255379, 16256859, 16256914, 16256917-16256918, 16256970-16256971, 16256974-16256978, 16256989-16256990, 16256995-16257000, 16257016, 16257019-16257020, 16259480-16259499, 16259522-16259557, 16259564-16259652, 16259686-16259690, 16259734, 16259770-16259790, 16263503-16263527, 16263536-16263571, 16263577-16263651, 16263677-16263680, 16263691-16263710, 16267141-16267148, 16267176-16267224, 16269775-16269797, 16271342-16271347, 16271355-16271358, 16271369, 16271426-16271433, 16271455-16271483, 16272655-16272691, 16272805, 16276298-16276299, 16276715-16276717, 16317288-16317291
246UMOD160.998959958398342192320357564, 20359862
247COG7160.998270644185044231323403702-23403705
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249CLN3160.9908883826879312131728497690, 28497702-28497706, 28499912-28499916, 28500618
250ATP2A1160.9863606121091241300628895901-28895902, 28895967, 28898877-28898894, 28898898, 28899035, 28900160-28900163, 28900225-28900227, 28900268-28900269, 28915509-28915517
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358C3190.9753605769230812349926697796, 6707153-6707155, 6709695-6709725, 6709755-6709796, 6710661-6710666, 6710772, 6714003-6714024, 6714050-6714063, 6714422-6714424
359INSR190.985538684020256041497152756-7152758, 7152765, 7152778-7152824, 7152885-7152893
360MCOLN1190.99770510613884417437594537-7594538, 7595207, 7595215
361PNPLA6190.9661144578313313539847604914-7604932, 7607905-7607917, 7614989-7614998, 7615897-7615941, 7615964-7615965, 7615973, 7615976-7615993, 7616278, 7616281-7616306
362STXBP2190.99775533108866417827702044, 7702047, 7707322, 7707896
363ADAMTS10190.991545893719812833128649823-8649826, 8670033-8670055, 8670058
364TYK2190.83950617283951572356410461569, 10461643, 10461777-10461800, 10463133-10463140, 10463181-10463213, 10463607-10463610, 10463634, 10463637, 10463650-10463656, 10463686-10463689, 10463709-10463711, 10463717, 10464205-10464257, 10464289, 10464292, 10464303, 10464310, 10464756, 10465208-10465221, 10468458-10468480, 10468503, 10468514, 10468531-10468565, 10468685-10468689, 10468696-10468703, 10468706-10468713, 10468748-10468751, 10468782, 10468793-10468814, 10469851-10469854, 10469877, 10469888, 10475290-10475320, 10475426-10475447, 10475711, 10476207-10476209, 10476212, 10476247, 10476356-10476357, 10476372, 10476381-10476385, 10476424-10476446, 10478731-10478757, 10479007-10479019, 10488902-10488942, 10488956-10489082
365DNM2190.9831611174894844261310897333, 10922948-10922968, 10923027-10923041, 10923049-10923053, 10930682, 10939871
366LDLR190.95005807200929129258311216096, 11221328-11221332, 11221339, 11221346, 11221438, 11222192-11222209, 11222272-11222315, 11224102, 11224300-11224308, 11224435-11224438, 11226848-11226870, 11227583-11227602, 11238716
367LDLR190.99649122807018128511242097
368PRKCSH190.996219281663526158711558341-11558346
369MAN2B1190.94927536231884154303612758357, 12759069-12759072, 12759076-12759082, 12759100, 12766583, 12766599-12766606, 12767810-12767813, 12767819-12767828, 12767842, 12767854-12767863, 12767868, 12768331-12768361, 12768890-12768897, 12768926, 12768929-12768932, 12768937-12768943, 12768948, 12769146, 12769149-12769153, 12769258-12769305
370GCDH190.998481397114652131713008544-13008545
371CACNA1A190.97407259672916195752113318233-13318273, 13318395, 13318399-13318400, 13318411-13318412, 13318478, 13318544-13318558, 13318590, 13318608-13318623, 13318646-13318716, 13318752-13318777, 13318850-13318852, 13319603-13319607, 13319692-13319694, 13395895-13395902
372NOTCH3190.97286821705426189696615299803-15299808, 15300179-15300183, 15302248-15302273, 15302321, 15302434-15302440, 15302567-15302569, 15302771, 15302783-15302785, 15302788, 15302821-15302832, 15302844, 15302878-15302892, 15302944, 15303015-15303016, 15303079, 15303304-15303320, 15311615-15311701
373JAK3190.9949629629629617337517940964, 17953203, 17953327, 17953331-17953333, 17953840-17953841, 17953845-17953847, 17953911-17953914, 17953919-17953920
374SLC5A5190.996894409937896193217983137, 17983331-17983333, 17985311, 17999249
375IL12RB1190.9738562091503352198918183078-18183085, 18186657, 18188326, 18197570-18197611
376COMP190.9604221635883990227418893745, 18893903-18893907, 18895164, 18896854-18896869, 18896875, 18896926-18896927, 18899112-18899113, 18899255, 18899444-18899451, 18899534, 18899702-18899709, 18899992, 18899995-18900000, 18900026, 18900053-18900079, 18900842, 18900906-18900909, 18901660, 18901663-18901664, 18901675
377CEBPA190.89879294336119109107733792486, 33792753-33792767, 33792837-33792843, 33792869-33792876, 33792921-33792925, 33792962-33792965, 33793008-33793010, 33793147-33793151, 33793156-33793157, 33793225-33793257, 33793265-33793286, 33793313-33793316
378SCN1B190.952912019826523880735521727-35521764
379MAG190.955874534821983188135790473-35790483, 35790546-35790568, 35790649-35790653, 35790691-35790710, 35790741-35790753, 35791095-35791101, 35791133-35791135, 35791141
380PRODH2190.999379267535691161136303360
381TYROBP190.758112094395288233936395508-36395511, 36398357-36398385, 36398410-36398435, 36398478-36398482, 36399070-36399087
382SDHAF1190.98850574712644434836486421-36486424
383WDR62190.9971566054243213457236558782-36558786, 36558794, 36580151, 36582341, 36595743-36595747
384RYR1190.982933121651122581511738976670-38976672, 38985255, 38987502-38987504, 38987529-38987534, 38990419, 38998421-38998429, 39037086-39037089, 39037157-39037163, 39055620-39055623, 39055647-39055657, 39055680-39055691, 39055702, 39055725, 39055736, 39055740-39055763, 39055799-39055802, 39055816-39055845, 39055875-39055911, 39055925-39055926, 39055943, 39055953-39055978, 39056018, 39056222-39056231, 39056234, 39056238-39056240, 39056350-39056351, 39075703-39075739, 39076762-39076770, 39077192-39077198
385ACTN4190.982821637426947273639138512-39138523, 39214696-39214697, 39214865-39214867, 39216460-39216489
386DLL3190.9779213785675841185739993657, 39994810-39994834, 39994854-39994865, 39994885-39994887
387PRX190.9943000455996425438640909613-40909628, 40909647-40909654, 40909757
388TGFB1190.9735720375106631117341838049, 41838171, 41847804, 41848098-41848102, 41850767-41850769, 41854246-41854256, 41854311-41854313, 41854324-41854326, 41854353-41854355
389BCKDHA190.9857997010463419133841928227, 41930402-41930405, 41930428-41930429, 41930490-41930501
390ATP1A3190.9918433931484530367842470763, 42470797-42470800, 42470809, 42470814-42470815, 42470863-42470871, 42470918, 42471098-42471102, 42471134, 42471444, 42471447-42471451
391ETHE1190.986928104575161076544012184-44012193
392BCAM190.974032856385849188745312382-45312384, 45312393-45312401, 45312416-45312449, 45312455-45312457
393APOC2190.947712418300651630645452474-45452489
394ERCC2190.9912395970214620228345855510, 45867155-45867169, 45867521-45867522, 45867780, 45873477
395SIX5190.999549549549551222046272083
396DMPK190.9592592592592677189046281442-46281455, 46281887-46281899, 46283100, 46285534-46285582
397FKRP190.9778225806451633148847259076-47259092, 47259352-47259358, 47259664-47259665, 47259680-47259682, 47259690-47259693
398DBP190.6012269938650339097849134111-49134112, 49134184, 49134206, 49136744, 49136758-49136775, 49136856-49136859, 49136867-49136875, 49136879, 49138837-49139027, 49139047-49139086, 49139110-49139201, 49139208-49139237
399BCAT2190.997455470737913117949303088-49303090
400GYS1190.9945799457994612221449494649-49494650, 49494654, 49496320-49496328
401MED25190.95499108734403101224450321688, 50321828-50321858, 50334076-50334077, 50334083, 50335395, 50335399-50335410, 50338314-50338323, 50338415-50338423, 50338833-50338834, 50339157-50339159, 50339551-50339558, 50340181-50340201
402MYH14190.9872361315660378611150728860-50728908, 50752987-50753003, 50764798-50764808, 50764892
403KCNC3190.87774846086192278227450823504-50823506, 50823563-50823599, 50826382-50826383, 50826398-50826399, 50826427-50826433, 50826458, 50826461-50826467, 50831487, 50831779-50831784, 50831787, 50831790, 50831892-50831900, 50831965-50831979, 50832004-50832024, 50832046, 50832116-50832139, 50832152, 50832186-50832253, 50832269-50832339
404NLRP12190.9908976773383629318654304515, 54304521-54304531, 54307286-54307290, 54308657-54308660, 54314428-54314434, 54318183
405PRKCG190.9727793696275157209454392923-54392925, 54392929, 54392958, 54393190-54393191, 54396639, 54401243-54401248, 54401745-54401748, 54401840-54401864, 54409571-54409572, 54409979, 54410060-54410061, 54410072, 54410078-54410079, 54410082-54410087
406PRPF31190.82133333333333268150054621983-54621988, 54625302, 54625313, 54625898, 54625937-54625955, 54626917, 54629969-54629972, 54629978-54629992, 54631448-54631482, 54631508-54631540, 54631552-54631568, 54631680-54631683, 54631696-54631723, 54632439-54632449, 54632461-54632465, 54632513, 54632521-54632538, 54632663-54632703, 54632726-54632745, 54634830, 54634858-54634863
407NLRP7190.997430956968538311455452839-55452846
408TNNT1190.93409378960715278955644286-55644294, 55644325, 55645259, 55648493, 55652592-55652630, 55657807
409TNNI3190.924466338259444660955665409, 55665556-55665567, 55666187-55666198, 55667672-55667692
410TPO20.9425410421127816128021459869-1459871, 1520655-1520754, 1544369-1544371, 1544397-1544404, 1544409-1544414, 1544434-1544452, 1544457-1544458, 1544476-1544495
411KLF1120.9870045484080620153910183844-10183863
412LPIN120.997007108118228267311944677-11944684
413MATN320.99589322381936146120192897-20192902
414APOB20.99861232836693191369221225217, 21225316-21225333
415HADHA20.9877835951134428229226414415-26414441, 26437942
416HADHB20.9929824561403510142526496568-26496574, 26502862-26502863, 26502866
417OTOF20.87937937937938723599426685028-26685030, 26689615, 26689693, 26691292-26691299, 26693496, 26695407-26695415, 26696318, 26696864-26696871, 26696916, 26696929-26696934, 26696971-26696972, 26697382-26697385, 26697402-26697431, 26697443-26697448, 26697459, 26697474-26697503, 26698791-26698810, 26698996-26699007, 26699053-26699055, 26699113-26699120, 26699160, 26699163-26699165, 26699174-26699175, 26699759-26699839, 26699852-26699911, 26700122-26700156, 26700284, 26700337, 26700345-26700366, 26700529-26700531, 26700583, 26700586, 26702136, 26702145-26702186, 26702352-26702353, 26702366-26702386, 26702423-26702425, 26702430-26702436, 26702464-26702497, 26702516-26702521, 26703071-26703109, 26703144-26703168, 26703695, 26703733, 26703791-26703835, 26705274-26705326, 26705352-26705358, 26705436-26705460, 26706394, 26706397-26706402, 26706473-26706485, 26707350-26707357, 26707448, 26707466-26707469, 26707474, 26712562-26712572
418EIF2B420.999387254901961163227592302
419C2orf7120.9901732609257838386729295399-29295436
420ALK20.9954760435944922486329443608-29443621, 29462586-29462593
421XDH20.9962518740629715400231571193-31571200, 31572553, 31572564, 31572570-31572573, 31572907
422CYP1B120.9926470588235312163238301999, 38302007, 38302017-38302020, 38302259-38302264
423SOS120.9915042478760634400239224397-39224402, 39224564-39224566, 39281814-39281821, 39281947-39281952, 39285814-39285824
424ABCG520.9943762781186111195644040331, 44041648, 44049950-44049956, 44055134, 44065693
425ABCG820.87883283877349245202244079742, 44079747, 44079984-44079991, 44099115-44099139, 44099191-44099246, 44099270, 44099362, 44099383-44099397, 44099412-44099433, 44100940, 44100949-44100952, 44100993-44101022, 44101029-44101036, 44101074, 44101089, 44101113-44101120, 44101546-44101551, 44101557-44101564, 44101567-44101571, 44101593-44101618, 44102329-44102334, 44102383, 44102397-44102404, 44102491, 44105007
426LRPPRC20.9976105137395510418544145466, 44153033, 44161938-44161942, 44176797-44176798, 44206993
427EPCAM20.99470899470899594547607008-47607012
428MSH220.9925133689839621280547630492, 47702384-47702395, 47705495-47705500, 47707851, 47709988
429MSH620.9892236100906244408348010458-48010465, 48010471, 48010473, 48010482, 48010488, 48010520, 48010527, 48010530-48010546, 48010604, 48010616-48010627
430NRXN120.999774011299431442550850753
431EFEMP120.999325236167341148256103806
432ATP6V1B120.9740596627756240154271163085-71163114, 71190346, 71191971-71191979
433MCEE20.99811676082863153171337212
434DYSF20.9924528301886848636071797787-71797790, 71825794, 71825867-71825870, 71829906-71829915, 71838597, 71840512-71840517, 71847691, 71847719-71847739
435SPR20.99872773536896178673114800
436ALMS120.99600127959053501250473676785-73676786, 73679607, 73679705, 73679716, 73679719, 73680515, 73680520-73680536, 73786254-73786265, 73827996-73828008, 73828342
437GGCX20.996925779534487227785788037-85788043
438EIF2AK320.998209489704576335188926730-88926735
439TMEM12720.99302649930265571796930896, 96930917-96930918, 96931098, 96931102
440SNRNP20020.99953205428173641196955082-96955084
441RANBP220.946563307493545179675109336063-109336099, 109336114-109336134, 109347230-109347253, 109347856, 109352022-109352029, 109352155-109352192, 109357109-109357137, 109363167-109363195, 109363251-109363254, 109367725-109367775, 109367857-109367874, 109367895, 109367984-109368013, 109368074-109368111, 109368372, 109370384-109370423, 109374869-109374872, 109378645-109378651, 109382787-109382793, 109382937-109382947, 109383142-109383148, 109383268-109383274, 109383288-109383321, 109383354-109383360, 109383541, 109384057-109384091, 109384419, 109384609-109384634
442GLI220.978155849611431044761121708941-121708985, 121708997, 121709009, 121712965, 121728164, 121729639, 121746151, 121746584, 121746599, 121746701, 121747207, 121747346-121747384, 121747657-121747666
443BIN120.9994388327721711782127828192
444PROC20.97763347763348311386128180677-128180707
445CFC120.8824404761904879672131279064, 131279076-131279080, 131279413, 131280365-131280384, 131280746, 131280765-131280785, 131280793-131280822
446RAB3GAP120.99524779361847142946135848685, 135883816-135883819, 135888185-135888189, 135888271, 135888286, 135890515, 135892886
447LCT20.9993084370677745784136566046, 136566049-136566051
448ZEB220.999725651577513645145157666
449NEB20.997196355261845619974152432712-152432715, 152432798-152432809, 152482082-152482097, 152484063-152484069, 152484160, 152499664-152499679
450SCN2A20.99518112329678296018166210954-166210958, 166237627-166237649, 166237707
451GALNT320.99106203995794171902166621431-166621432, 166626918-166626919, 166627163-166627175
452SCN1A20.99833249958312105997166892681-166892689, 166908443
453SCN9A20.99292214357937425934167094651-167094653, 167094755, 167094759-167094763, 167133671-167133688, 167159641-167159655
454ITGA620.99542124542125153276173340386-173340400
455CHN120.9992753623188411380175816918
456AGPS20.9994941831057211977178346914
457DFNB5920.97072710103872311059179318141, 179318281-179318303, 179318315, 179325164-179325169
458TTN20.9978253930253218100248179407236-179407240, 179414381-179414384, 179415709-179415710, 179417724-179417727, 179418345-179418357, 179418734-179418740, 179418744-179418745, 179422625-179422629, 179431492-179431506, 179434025, 179434505-179434507, 179435024, 179435136-179435149, 179436813, 179437160, 179437691-179437692, 179439344-179439346, 179439700, 179440071, 179441900, 179443390, 179443394, 179444366-179444385, 179454710-179454712, 179457770, 179458024, 179459274-179459275, 179464344, 179477890, 179485885, 179514906, 179542497-179542564, 179552936, 179582746, 179634656-179634659, 179642264-179642265, 179643738, 179644128-179644134, 179650614-179650627, 179650634
459CERKL20.9443402126329891599182468589, 182468594-182468616, 182468635-182468646, 182468652, 182468675, 182468691-182468720, 182468778-182468798
460COL5A220.9993333333333334500189963483-189963485
461PMS120.996784565916492799190719142-190719150
462HSPD120.97560975609756421722198351835-198351874, 198353192, 198362042
463ALS220.9967832730197164974202575722-202575725, 202606399-202606405, 202622186-202622190
464BMPR220.98877125441129353117203378454-203378457, 203378526, 203378530-203378536, 203384818-203384819, 203397311-203397323, 203397428-203397429, 203420804-203420809
465ICOS20.9166666666666750600204820468-204820517
466NDUFS120.99130036630037192184206991287, 206991478, 206991511, 207009746, 207017187-207017188, 207018371-207018383
467FASTKD220.99531176746367102133207631631-207631640
468ABCA1220.9997431946584527788215854318-215854319
469CYP27A120.996867167919851596219679737, 219679740-219679741, 219679744, 219679752
470OBSL120.99859427165785691220435672-220435674, 220435741-220435745
471SLC19A320.99329309188464101491228566913-228566922
472CHRND20.96589446589447531554233390926-233390958, 233392113, 233394802-233394805, 233394808, 233394818, 233396306-233396308, 233398642, 233398973-233398981
473CHRNG20.99613899613961554233405110, 233409238-233409242
474COL6A320.99349695825467629534238303484-238303499, 238303573-238303599, 238303618, 238303635-238303652
475AGXT20.96861747243427371179241808283-241808285, 241808344-241808349, 241808356-241808373, 241808610-241808616, 241808685, 241810112-241810113
476D2HGDH20.94699872286079831566242707125-242707134, 242707188, 242707233, 242707250-242707258, 242707261-242707262, 242707272, 242707275, 242707293-242707346, 242707358-242707361
477C20orf54200.97021276595745421410741837-741841, 741847-741853, 741860, 742345-742347, 742395, 746391-746415
478PANK2200.9994162288383117133891438
479FERMT1200.99803343166175420346060114-6060117
480MKKS200.995913601868077171310386013, 10393552-10393557
481JAG1200.998632759092155365710626724-10626727, 10626732
482SNTA1200.9841897233201624151832000219, 32031118-32031119, 32031176-32031182, 32031325-32031334, 32031395, 32031399, 32031409, 32031414
483GDF5200.9847277556440923150634025146-34025167, 34025195
484HNF4A200.9564912280701862142543052728-43052733, 43052736, 43052755-43052793, 43052826-43052829, 43052840, 43052867-43052877
485ADA200.9807692307692321109243252931-43252935, 43255110, 43255120, 43255153-43255155, 43255206, 43255225, 43257761-43257768, 43257777
486CTSA200.9906479625918514149744520238-44520243, 44523668, 44523762-44523768
487GNAS200.99728997289973273857415764-57415765
488GNAS200.9942196531791918311457429191-57429204, 57429647, 57429650, 57429900-57429901
489COL9A3200.66374695863747691205561448417-61448494, 61448919-61448987, 61449870-61449905, 61450580-61450633, 61451289-61451298, 61451303, 61451309, 61453109-61453119, 61453137-61453155, 61453463-61453516, 61453943-61453984, 61455797-61455848, 61456320-61456373, 61457558-61457560, 61457574-61457591, 61457605, 61457608, 61458119-61458130, 61458151-61458156, 61458167-61458168, 61458598, 61458614, 61458635, 61459277-61459311, 61460121, 61460124-61460128, 61460313-61460322, 61460982, 61460985-61460987, 61461028, 61461033, 61461118-61461127, 61461159, 61461752-61461765, 61461869-61461922, 61463530-61463541, 61464405, 61464409-61464416, 61467547, 61467550, 61467601, 61468435-61468438
490CHRNA4200.208598726114651491188461978090-61978104, 61978137, 61978140-61978154, 61978181-61978215, 61981005-61981009, 61981018, 61981023-61981024, 61981027-61981031, 61981053-61981083, 61981109-61981173, 61981181-61981185, 61981211-61981255, 61981264-61981308, 61981342-61981379, 61981436-61981466, 61981474-61981734, 61981741-61981747, 61981778-61981868, 61981883, 61981891-61981902, 61981908-61981944, 61981956-61982158, 61982171-61982259, 61982263, 61982280-61982331, 61982365-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
491KCNQ2200.48033600610921361261962037997-62038010, 62038057-62038069, 62038094-62038130, 62038152, 62038167-62038191, 62038194, 62038201-62038204, 62038220, 62038227-62038255, 62038264-62038267, 62038274-62038279, 62038283-62038292, 62038312-62038428, 62038445, 62038465-62038498, 62038526-62038531, 62038552, 62038555-62038560, 62038570-62038612, 62038634-62038644, 62038673-62038674, 62038678-62038681, 62038686-62038697, 62038707-62038714, 62039766-62039795, 62039818-62039828, 62039887, 62044913-62044919, 62046256-62046280, 62050992, 62059744-62059770, 62059776-62059788, 62065189-62065206, 62065237, 62065250-62065251, 62069978-62069994, 62070028-62070048, 62070951, 62070980-62071006, 62071016, 62071030-62071055, 62073759-62073857, 62073877-62073884, 62076012-62076046, 62076065-62076083, 62076104-62076187, 62076591-62076717, 62078100-62078173, 62103521-62103816
492SOX18200.37229437229437725115562679543-62679589, 62679632, 62679636, 62679701-62679719, 62679819-62679863, 62679894, 62679924-62679949, 62679970, 62679976-62680004, 62680016-62680114, 62680121, 62680150-62680187, 62680198-62680199, 62680213-62680220, 62680241-62680260, 62680278-62680306, 62680512-62680869
493APP210.998702983138783231327542905, 27542908-27542909
494IFNGR2210.9437869822485257101434775850-34775897, 34775908, 34775912, 34799311-34799316, 34804643
495RCAN1210.974967061923581975935987187-35987205
496HLCS210.997248968363146218138269320-38269325
497TMPRSS3210.9838827838827822136543805527-43805538, 43805541, 43805551-43805558, 43805642
498CBS210.9673913043478354165644474006-44474011, 44474091-44474093, 44476951-44476965, 44476968, 44478347-44478355, 44478987-44478991, 44479381-44479389, 44480616, 44486414-44486417, 44488689
499AIRE210.325396825396831105163845705891-45705943, 45705960-45706006, 45706440-45706475, 45706486-45706523, 45706538, 45706582-45706608, 45706611-45706614, 45706861-45706909, 45706937, 45706944-45706951, 45706961, 45706973, 45707006, 45707412-45707444, 45707462-45707474, 45708228-45708234, 45708253-45708259, 45708277-45708295, 45708316-45708326, 45709565-45709596, 45709621-45709666, 45709672-45709680, 45709879-45709881, 45709890-45709917, 45709947, 45710978-45711036, 45711046-45711091, 45712185-45712194, 45712198-45712211, 45712215-45712233, 45712280-45712284, 45712876-45712887, 45712898-45712931, 45712944-45712963, 45712974-45713058, 45713672-45713767, 45713777-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717582, 45717589, 45717594
500ITGB2210.91298701298701201231046306735, 46306745, 46306802, 46308611-46308676, 46308718, 46308727-46308740, 46309928-46309931, 46309937-46309941, 46309946, 46309956-46309992, 46310050-46310055, 46310119, 46311759-46311767, 46311813, 46311870-46311901, 46313376, 46326830-46326831, 46326848-46326864, 46326933
501COL18A1210.623931623931621980526546875475-46875477, 46875544, 46875689-46875696, 46875817, 46876040-46876050, 46876090-46876108, 46876222-46876226, 46876278-46876279, 46876288, 46876341-46876372, 46876472, 46876560, 46876573-46876578, 46876596-46876600, 46876607-46876623, 46876678, 46876681-46876682, 46876768-46876769, 46888180, 46888229, 46888310, 46888318, 46888335-46888337, 46888351, 46888446-46888449, 46888551, 46888598-46888606, 46896321-46896380, 46897772-46897774, 46898243, 46899843-46899846, 46899849-46899864, 46900035-46900039, 46900043, 46900673, 46900714, 46900721, 46906775-46906819, 46906828, 46906841, 46906844-46906895, 46907364-46907376, 46907394, 46907397-46907404, 46907421-46907423, 46908334-46908340, 46908347-46908348, 46909400-46909407, 46909431-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912454, 46912462-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914470, 46914482-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917530, 46917544-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925765, 46925780-46925880, 46927475-46927507, 46929270-46929275, 46929286-46929323, 46929339-46929360, 46929376, 46929454, 46929457, 46929461, 46929492-46929500, 46929999-46930000, 46930024-46930029, 46930042, 46930054-46930057, 46930108-46930142, 46930156-46930175, 46931025-46931066, 46931075, 46931105-46931140, 46932114-46932136, 46932139, 46932160-46932175, 46932191, 46932202-46932238, 46932249, 46932262-46932312
502COL6A1210.75056689342404770308747401765-47401861, 47402548-47402677, 47404183-47404184, 47404208-47404247, 47404259-47404383, 47406440-47406488, 47406500-47406519, 47406532-47406535, 47406591, 47406858-47406862, 47406877-47406924, 47406933-47406986, 47407069-47407087, 47407413-47407433, 47407524-47407568, 47409044-47409051, 47409666-47409669, 47410172-47410198, 47410304-47410336, 47410696, 47410700-47410701, 47414089-47414111, 47414134-47414135, 47418856, 47419087, 47419092, 47419095, 47419602-47419606, 47420245
503COL6A2210.500980392156861527306047531391, 47531396, 47531416-47531437, 47531447-47531501, 47531893-47531900, 47531922-47531974, 47532011, 47532061-47532105, 47532212, 47532284, 47532287-47532290, 47532304, 47532307, 47532310, 47532336-47532347, 47532475-47532478, 47533922-47533937, 47533978-47533987, 47535923-47535942, 47536291-47536292, 47536590, 47536684-47536717, 47537314-47537329, 47537335-47537361, 47537795-47537796, 47537834, 47538528-47538539, 47538545, 47538554-47538590, 47538944-47538987, 47539023, 47539702-47539727, 47539738-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542024, 47542034-47542037, 47542061-47542072, 47542410-47542429, 47542435, 47542820-47542851, 47544565, 47544569, 47544799-47544800, 47544807-47544832, 47545180-47545218, 47545440, 47545446-47545477, 47545710-47545734, 47545750-47545786, 47545829-47545831, 47545842, 47545855-47545893, 47545910-47545923, 47545959-47545975, 47545981-47545984, 47545998, 47546005-47546006, 47546020-47546035, 47546044, 47546094-47546146, 47546417-47546432, 47551868-47551891, 47551907-47551945, 47551968-47552080, 47552088-47552091, 47552115-47552140, 47552161-47552295, 47552305-47552349, 47552358-47552369, 47552385-47552424, 47552437-47552439, 47552442, 47552445, 47552452-47552454, 47552465
504COL6A2210.2251461988304126534247552183-47552295, 47552305-47552349, 47552358-47552369, 47552385-47552424, 47552437-47552439, 47552442, 47552445, 47552452-47552454, 47552465, 47552472-47552473, 47552481-47552524
505FTCD210.101476014760151461162647556944-47556987, 47557153-47557186, 47557196-47557199, 47557209-47557210, 47557226-47557248, 47558422-47558473, 47558484-47558518, 47558533-47558560, 47558794-47558827, 47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570383, 47570406-47570439, 47571472-47571651, 47571806-47571894, 47572825-47572949, 47574063-47574246, 47575384-47575385, 47575394-47575413, 47575436-47575437
506PCNT210.985715712716011431001147801729-47801732, 47836122, 47836395, 47836679-47836684, 47836732-47836736, 47841932-47841933, 47841941, 47841945-47841950, 47841954-47841955, 47845844, 47845851-47845852, 47847700, 47847703-47847709, 47848347, 47848350, 47848355-47848371, 47848428-47848454, 47848459, 47848478-47848496, 47849968-47849975, 47850063, 47850120-47850126, 47850142-47850145, 47851749, 47851753-47851755, 47860113, 47864678-47864690
507PRODH220.85967831392124253180318900868, 18904414, 18907219-18907263, 18908856-18908905, 18910366, 18923529-18923577, 18923633-18923640, 18923672-18923691, 18923723-18923800
508GP1BB220.04830917874396159162119711093-19711102, 19711377-19711538, 19711558-19711918, 19711930-19711987
509TBX1220.6989247311828448148819747195, 19748428-19748599, 19748623-19748625, 19748654-19748674, 19748733-19748737, 19753294-19753300, 19753302-19753303, 19753454-19753525, 19753912-19753927, 19753937-19753975, 19753990, 19753995-19753997, 19754002-19754012, 19754024-19754049, 19754085-19754086, 19754188-19754193, 19754282-19754307, 19754331-19754365
510SMARCB1220.996545768566494115824175826-24175829
511UPB1220.993939393939397115524919713-24919719
512HPS4220.999526515151521211226849235
513CHEK2220.92844974446337126176129083906-29083917, 29083948-29083974, 29085137-29085171, 29090020-29090042, 29091837-29091844, 29115428-29115430, 29120977-29120978, 29121270-29121271, 29126408, 29126411-29126415, 29126478, 29126481, 29126485-29126490
514TCN2220.9828660436137122128431003319-31003326, 31006860, 31011438-31011441, 31022450-31022458
515TIMP3220.99842767295597163633198001
516TRIOBP220.98408002254156113709838119891-38119904, 38120031-38120068, 38120563, 38120635, 38120840, 38121740-38121742, 38122462, 38129325, 38129412-38129419, 38130536-38130539, 38130566, 38130569-38130573, 38130911-38130931, 38130937-38130948, 38131039, 38153928
517PLA2G6220.1963190184049139348938508274-38508312, 38508511-38508584, 38509494-38509538, 38509565-38509635, 38509658-38509706, 38509718-38509720, 38509730, 38509759-38509869
518PLA2G6220.70797191243288707242138508168-38508312, 38508511-38508584, 38509494-38509538, 38509565-38509635, 38509658-38509661, 38511534-38511577, 38511593-38511603, 38511635-38511648, 38511664-38511688, 38512082-38512099, 38512138, 38512141-38512168, 38512185-38512203, 38516766-38516790, 38516847-38516871, 38516896-38516916, 38519103, 38519111-38519125, 38519130, 38519153-38519157, 38519167-38519168, 38519205-38519253, 38522391-38522393, 38524385-38524414, 38524417, 38525541, 38525544, 38525552-38525554, 38525557-38525559, 38528915, 38528978-38528982, 38528989, 38529008-38529009, 38529012, 38531068-38531078, 38536074
519TNFRSF13C220.2828828828828839855542321476-42321523, 42322105-42322120, 42322126-42322129, 42322142-42322335, 42322642-42322777
520CYB5R3220.935982339955855890643026975, 43027384-43027393, 43027446-43027456, 43032801-43032816, 43045302-43045321
521TRMU220.9462875197472468126646739234-46739247, 46746285, 46746290-46746291, 46746334-46746335, 46748033, 46748213-46748214, 46751342-46751352, 46751437-46751440, 46751924-46751930, 46751961-46751965, 46752807, 46752886-46752903
522ALG12220.9325153374233199146750301500-50301512, 50301572-50301591, 50303559-50303561, 50303616, 50303635, 50303728-50303736, 50304118-50304119, 50304122-50304128, 50304161-50304177, 50307042-50307045, 50307118-50307122, 50307135-50307140, 50307252-50307253, 50307366-50307374
523MLC1220.9691358024691435113450502498-50502511, 50502543-50502549, 50502593-50502595, 50512669-50512672, 50512681, 50512744, 50515270-50515271, 50515907-50515909
524SCO2220.8439450686641712580150962040-50962048, 50962084-50962086, 50962210-50962211, 50962420-50962456, 50962521-50962527, 50962596-50962611, 50962640-50962666, 50962691, 50962791-50962797, 50962825-50962840
525TYMP220.52104899930987694144950964199-50964290, 50964296-50964312, 50964332-50964347, 50964430-50964484, 50964512-50964513, 50964518-50964520, 50964523-50964564, 50964687-50964759, 50964766-50964794, 50964809, 50964826, 50964831, 50964839-50964844, 50964855-50964856, 50964891-50964905, 50965005-50965006, 50965011-50965034, 50965055-50965096, 50965107, 50965126-50965167, 50965594-50965604, 50965631-50965638, 50965653-50965712, 50966018-50966040, 50966962-50966969, 50966974-50966977, 50967608-50967648, 50967665, 50967668, 50967720, 50967723, 50967729-50967730, 50967737-50967760, 50967951, 50968001, 50968005-50968007, 50968028, 50968040, 50968044, 50968061-50968094, 50968128
526ARSA220.9829396325459326152451063627-51063633, 51063766, 51063819-51063834, 51063871-51063872
527SHANK3220.777650648360031166524451113070-51113132, 51113476-51113546, 51113559-51113570, 51113576-51113599, 51113622-51113624, 51113631-51113633, 51113639-51113640, 51115084-51115121, 51117019-51117045, 51117066-51117104, 51117197-51117198, 51117242-51117283, 51117291-51117320, 51117340-51117348, 51117475-51117583, 51117589-51117614, 51117748-51117809, 51117828-51117856, 51121768-51121845, 51123013-51123079, 51133323-51133324, 51133360, 51133363-51133376, 51133385, 51133389, 51135671-51135719, 51135951-51136143, 51143486-51143489, 51158783-51158799, 51158924-51158925, 51159257, 51159288-51159334, 51159422, 51159425, 51159433-51159439, 51169149-51169157, 51169226-51169240, 51169422-51169432, 51169436-51169439, 51169513-51169541, 51169562-51169578, 51169708-51169711
528FANCD230.9956974637681219441610083394, 10085536, 10088264-10088269, 10091150-10091156, 10140504-10140507
529BTD30.99693627450985163215686705-15686707, 15686918-15686919
530MLH130.9911933069132520227137035135-37035137, 37035145-37035146, 37053513, 37067340-37067353
531SCN5A30.9972830701307516588938616815-38616829, 38616913
532TMIE30.962962962962961745946742987, 46743024, 46743029-46743042, 46743045
533TMIE30.949044585987262447146742987, 46743024, 46743029-46743042, 46743045, 46751074-46751079, 46751158
534MYL330.99489795918367358846902257-46902259
535TREX130.9774774774774825111048508025-48508036, 48508246, 48508325-48508326, 48508409, 48508668-48508676
536COL7A130.9262026032824652883548602322, 48602596-48602602, 48607919, 48610362, 48612829-48612833, 48613089-48613091, 48613095-48613099, 48613105, 48613146, 48613332-48613335, 48613708-48613729, 48613859-48613865, 48613980-48613982, 48614110, 48614115-48614121, 48614125, 48614132, 48614444-48614446, 48616377-48616379, 48616812-48616825, 48616928-48616933, 48616947-48616948, 48617070-48617073, 48617082-48617088, 48617477-48617490, 48617749, 48617752-48617756, 48618574-48618590, 48618700-48618703, 48618904-48618916, 48619006-48619021, 48619361-48619376, 48619928-48619946, 48620086, 48620560-48620561, 48620826-48620828, 48621035-48621038, 48621159, 48621801, 48622172, 48622544-48622549, 48622992, 48623018-48623023, 48623124, 48623384, 48623565-48623567, 48623658-48623660, 48623806-48623823, 48623880-48623885, 48624024-48624048, 48624099-48624112, 48624424, 48624504-48624523, 48624627-48624641, 48624677, 48624702, 48624749, 48624762, 48624878-48624879, 48624883, 48624953-48624980, 48625232-48625266, 48625282-48625342, 48625771-48625772, 48626075-48626085, 48626382, 48626404, 48626760-48626764, 48626779-48626791, 48626811-48626813, 48626823, 48626831, 48626837, 48626846-48626847, 48626887-48626903, 48627033, 48627041-48627048, 48627088-48627150, 48627722-48627747, 48628119, 48628136, 48628204, 48629148-48629149, 48630604, 48630615-48630625
537SLC25A2030.945916114790294990648895971, 48895987-48896005, 48896554-48896555, 48900005, 48900060, 48936130-48936147, 48936206, 48936222-48936227
538LAMB230.9360755975542345539749158668-49158679, 49158878, 49158974-49158982, 49159117-49159128, 49159187, 49159284-49159293, 49159626-49159627, 49160159-49160184, 49160210-49160227, 49160267-49160278, 49160286, 49160299-49160306, 49160343-49160353, 49160359, 49160363-49160366, 49160375, 49160379-49160382, 49160649-49160680, 49160733, 49160778, 49160897-49160898, 49160990, 49161497-49161511, 49161523, 49161699, 49161703, 49161966, 49162014-49162015, 49162019, 49162028-49162029, 49162037-49162040, 49162154-49162163, 49162260-49162274, 49162284, 49162463-49162467, 49162686-49162711, 49162786, 49162789, 49162853, 49162862-49162869, 49162872, 49162875-49162876, 49162886-49162890, 49163546, 49166135, 49166139, 49166242-49166248, 49167101, 49167423, 49167709-49167712, 49167761-49167771, 49167835-49167839, 49168233-49168241, 49168866-49168875, 49168999, 49169006-49169008, 49169013-49169016, 49169122, 49169127-49169131, 49169707, 49169939-49169942, 49170280
539AMT30.997524752475253121249458996, 49459546-49459547
540GNAT130.9895536562203211105350231281-50231283, 50231636-50231639, 50231648, 50232016-50232017, 50232225
541HYAL130.8302752293578222130850337936-50337937, 50337941-50337962, 50338129-50338153, 50338169-50338175, 50338191-50338195, 50338200-50338231, 50338431-50338470, 50338476-50338508, 50339567, 50339588-50339639, 50339762, 50339915, 50339983
542TNNC130.960905349794241948652485291, 52485457, 52485510-52485513, 52485811, 52486215, 52486499-52486509
543RFT130.9852398523985224162653153900-53153905, 53156402-53156411, 53159972-53159979
544TKT30.9898504273504319187253264482-53264499, 53269163
545HESX130.99820788530466155857233841
546PDHB30.9898148148148111108058413781-58413785, 58416469-58416474
547ATXN730.95031712473573141283863898340, 63898361-63898363, 63898436-63898544, 63898558-63898585
548GBE130.997155049786636210981691988-81691992, 81691995
549CHMP2B30.99065420560748664287299122-87299127
550PROS130.999015263417042203193596018-93596019
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719VLDLR90.99656750572082926222622219-2622221, 2622225-2622230
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734LMX1B90.96157283288651431119129376798-129376829, 129376854, 129376857-129376866
735STXBP190.9988962472406221812130374719, 130422383
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745DBH90.835490830636463051854136501571, 136505024-136505031, 136505114, 136512991, 136512997-136512998, 136513049-136513058, 136513102, 136516756-136516768, 136516771, 136516774-136516781, 136516790-136516791, 136516794-136516799, 136516811-136516834, 136516861-136516866, 136516872-136516884, 136517368-136517379, 136518062-136518067, 136521651-136521686, 136521726, 136521729-136521730, 136521756, 136521764-136521770, 136522192-136522209, 136522233-136522274, 136522307-136522316, 136522336-136522351, 136523438-136523445, 136523477-136523484, 136523511-136523549, 136523566-136523567
746SARDH90.737758433079437232757136529015-136529023, 136529041-136529049, 136529070-136529117, 136529134-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136550330-136550339, 136550342-136550358, 136555508, 136555515-136555539, 136555568-136555571, 136555645-136555649, 136559380-136559405, 136559409-136559414, 136559470-136559493, 136568090, 136573455-136573501, 136577755, 136578188-136578194, 136578238-136578246, 136584127-136584128, 136599273
747COL5A190.842305600870048705517137534051-137534076, 137534088-137534130, 137582764, 137582774-137582780, 137582786-137582826, 137582868-137582893, 137582905-137582925, 137591755-137591804, 137591816-137591854, 137591886-137591917, 137591920-137591946, 137591954-137591968, 137593017-137593018, 137593042-137593164, 137593177-137593179, 137642447-137642455, 137642715-137642728, 137644441-137644449, 137644457-137644491, 137645703-137645708, 137645713, 137645721, 137645733-137645739, 137646127, 137646135-137646137, 137653773-137653779, 137653802-137653824, 137655539, 137655574, 137658846-137658852, 137660256-137660262, 137664636-137664647, 137666739, 137674520-137674566, 137676835-137676841, 137676876-137676878, 137676883, 137676893-137676924, 137676927-137676928, 137677841, 137677863-137677889, 137681001-137681009, 137687108-137687109, 137687126-137687148, 137688240, 137688244-137688246, 137688252, 137688720-137688728, 137690261, 137694734-137694742, 137694782, 137694785-137694791, 137696873-137696895, 137698091-137698097, 137704527, 137705849, 137705869-137705871, 137706659-137706669, 137709624-137709637, 137710502-137710504, 137710696, 137710701, 137710730-137710747
748LHX390.833746898263032011209139089194-139089202, 139089270, 139089280-139089294, 139089332-139089333, 139089343-139089379, 139089469, 139089548, 139089551, 139089562, 139089577, 139090542-139090543, 139090636-139090644, 139090654, 139090755-139090806, 139090848-139090860, 139090880, 139090902-139090905, 139094798-139094835, 139094860-139094870, 139094877
749INPP5E90.788630490956074091935139325510-139325515, 139326287-139326313, 139326367-139326375, 139326394-139326400, 139326431-139326437, 139326997-139327009, 139327030, 139327034-139327038, 139327439, 139327498-139327515, 139327522-139327527, 139327704-139327712, 139327728-139327731, 139328507-139328510, 139328516-139328531, 139328535-139328538, 139329213-139329214, 139329304-139329311, 139333060-139333067, 139333156-139333191, 139333218-139333224, 139333243, 139333249-139333254, 139333296-139333339, 139333353-139333373, 139333453-139333486, 139333499-139333545, 139333556-139333571, 139333613-139333614, 139333623, 139333687-139333692, 139333703, 139333749-139333759, 139333777-139333779, 139333786-139333796, 139333811-139333814, 139333821, 139333832, 139333836
750NOTCH190.2053990610328660937668139390534-139390606, 139390613-139390692, 139390708-139390740, 139390746, 139390757-139390783, 139390804-139390845, 139390862-139390896, 139390902-139390964, 139390976-139391001, 139391022-139391051, 139391064-139391112, 139391126-139391236, 139391259-139391295, 139391311-139391360, 139391379-139391487, 139391507-139391508, 139391512-139391568, 139391580-139391607, 139391613-139391901, 139391911-139391917, 139391924-139392010, 139393375-139393391, 139393448, 139393591, 139393614-139393618, 139393623, 139393626-139393631, 139393657-139393660, 139393665-139393668, 139395004-139395047, 139395084-139395185, 139395203-139395204, 139395207-139395212, 139395237-139395285, 139395298-139395299, 139396200-139396282, 139396304-139396342, 139396460-139396498, 139396523, 139396724-139396796, 139396842-139396921, 139397634-139397689, 139397701-139397722, 139397744, 139397754-139397782, 139399131-139399145, 139399149-139399157, 139399185-139399409, 139399423-139399471, 139399484-139399489, 139399523-139399544, 139399549-139399556, 139399762-139399782, 139399792-139399919, 139399949-139399964, 139399981-139400036, 139400094-139400135, 139400147-139400333, 139400979-139400982, 139400989-139401050, 139401056-139401090, 139401171-139401211, 139401215, 139401233-139401271, 139401301-139401354, 139401384-139401413, 139401422, 139401766-139401775, 139401785-139401821, 139401830-139401889, 139402407-139402428, 139402435-139402477, 139402485-139402513, 139402516, 139402531, 139402544-139402591, 139402685-139402744, 139402801, 139402836-139402837, 139403322-139403486, 139404217-139404267, 139404299-139404318, 139404330-139404351, 139404361-139404391, 139404400-139404413, 139405105, 139405112-139405146, 139405198-139405257, 139405604-139405611, 139405617-139405656, 139405661, 139405670-139405723, 139407473-139407586, 139407844-139407989, 139408962-139408995, 139409003-139409094, 139409097, 139409101, 139409117-139409154, 139409742-139409852, 139409935-139409989, 139410002-139410168, 139410433-139410546, 139411738-139411837, 139412204-139412389, 139412589-139412702, 139412710-139412744, 139413043-139413088, 139413103-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438484-139438489, 139438521, 139438540, 139438551, 139440178-139440238
751AGPAT290.27598566308244606837139568204-139568254, 139568263, 139568269-139568271, 139568288-139568379, 139569187-139569239, 139569255-139569259, 139571037-139571038, 139571068-139571077, 139571123-139571127, 139571413-139571417, 139571426, 139571432-139571474, 139571480, 139571516-139571533, 139571555-139571588, 139571875-139571915, 139571933-139572008, 139581636-139581738, 139581748-139581809
752SLC34A390.452777777777789851800140126226-140126239, 140126543-140126546, 140127027-140127050, 140127092-140127115, 140127140-140127144, 140127236-140127258, 140127310-140127336, 140127341-140127343, 140127349, 140127375, 140127469-140127498, 140127694-140127697, 140127707-140127712, 140127824-140127839, 140127852-140127856, 140128085, 140128094-140128117, 140128130-140128131, 140128142-140128174, 140128315-140128388, 140128561-140128673, 140128686, 140128717-140128724, 140128868-140128870, 140128876-140128893, 140128938, 140128942-140128952, 140128957-140128960, 140128969-140128984, 140129059-140129080, 140129095, 140129110, 140129126-140129183, 140130407-140130456, 140130463-140130695, 140130708-140130740, 140130767-140130810, 140130822-140130868
753EHMT190.824993584808836823897140513481-140513501, 140605419-140605423, 140605432, 140605444-140605482, 140611078-140611634, 140622825-140622830, 140622857-140622862, 140622920-140622941, 140622949-140622958, 140638416-140638419, 140638499, 140638510, 140669651, 140708892, 140708934, 140728821, 140728952-140728953, 140728968-140728970
754SHOXX0.5995449374289352879591633-591675, 591682-591713, 591727-591757, 591763-591794, 591812-591897, 591909, 595361-595410, 595444, 595452-595453, 595462-595482, 595488-595530, 595540-595548, 595559
755CSF2RAX0.4467432950191672213051401598-1401666, 1404674-1404678, 1404684-1404741, 1404774-1404813, 1407439, 1407684-1407700, 1407758-1407778, 1409252-1409259, 1409269-1409270, 1409300-1409313, 1409322, 1409347-1409367, 1409391-1409402, 1413221-1413354, 1414320-1414323, 1419384-1419435, 1419444-1419518, 1422154-1422255, 1422816-1422855, 1422868, 1422876-1422912, 1424409-1424413, 1424418-1424419, 1428372
756CDKL5X0.999676689298421309318638068
757PHKA2X0.998381877022656370818912343, 18912357, 18912377-18912378, 18912437, 18919632
758SMSX0.9863760217983715110121958943-21958954, 21958975-21958977
759ARXX0.9863824748371823168925031659-25031678, 25031894, 25031899-25031900
760RPGRX0.609713790112751350345938144793, 38144815-38144822, 38144848, 38145033-38145075, 38145108-38145929, 38145943-38146050, 38146060-38146188, 38146212-38146218, 38146232-38146260, 38146275, 38146306-38146318, 38146343-38146358, 38146373-38146403, 38146428, 38146446-38146498, 38147118, 38147128-38147133, 38147146-38147147, 38147159-38147167, 38147174-38147182, 38147208-38147245, 38150231-38150233, 38150236, 38150646, 38150671-38150672, 38156565, 38156677-38156678, 38163941-38163948, 38182688-38182691
761TSPAN7X0.985333333333331175038420806-38420816
762NYXX0.9647302904564351144641333347, 41333369-41333378, 41333942-41333945, 41333948-41333972, 41334016, 41334048-41334056, 41334063
763CASKX0.997469269703547276641379755-41379756, 41379759-41379762, 41379774
764MAOAX0.9684343434343450158443571168-43571196, 43571979-43571981, 43572026-43572043
765ZNF674X0.9810996563573933174646359719-46359720, 46359806, 46360497, 46360503-46360523, 46360604-46360611
766ZNF81X0.997482376636465198647774418, 47774526-47774528, 47775760
767FTSJ1X0.9979797979798299048341121, 48341387
768PORCNX0.99927849927851138648372690
769CACNA1FX0.99898887765426593449079192-49079197
770FOXP3X0.999228395061731129649110500
771SMC1AX0.999459751485682370253407962, 53441768
772FGD1X0.99965349965351288654494257
773ARX0.95041621425986137276366765155-66765231, 66766353-66766412
774MED12X0.9937251300887741653470360615-70360626, 70360644-70360672
775TAF1X0.9903203097500955568270586199-70586239, 70595017-70595021, 70602653, 70643868-70643872, 70678137, 70678152-70678153
776PHKA1X0.999727668845321367271831003
777SLC16A2X0.999457111834961184273641400
778ABCB7X0.99734748010616226274291508-74291512, 74293596
779ATRXX0.999064045995457747976937123-76937128, 76938081
780ATP7AX0.998889629136135450377258632-77258635, 77294407
781BRWD3X0.9972268441486415540979973174-79973187, 79978230
782ZNF711X0.997812773403325228684525667, 84526689-84526692
783PCDH19X0.999697519661221330699661669
784SRPX2X0.999284692417741139899920350
785PAK3X0.9977051061388441743110391064-110391066, 110406202
786NDUFA1X0.962441314553998213119007355, 119010477-119010483
787CUL4BX0.99015317286652272742119673127-119673128, 119673141, 119694058, 119694071-119694072, 119694327-119694347
788XIAPX0.96385542168675541494123019551-123019574, 123019733-123019745, 123019853-123019855, 123020082, 123025109-123025111, 123025119-123025126, 123025143, 123040948
789FRMD7X0.999533799533812145131212302
790GPC3X0.9994262765347111743132887819
791ARHGEF6X0.99785499785552331135760106, 135760109-135760111, 135760115
792FAM58AX0.9591836734693930735152853860-152853865, 152864427-152864446, 152864516-152864519
793SLC6A8X0.831761006289313211908152954030-152954215, 152954235-152954236, 152954242-152954253, 152954257, 152954260, 152955949-152955957, 152956766-152956772, 152957538, 152957555, 152958718-152958723, 152958917-152958939, 152959011-152959017, 152959388-152959390, 152959400, 152959470-152959472, 152959637-152959644, 152959826-152959858, 152960030, 152960217, 152960547-152960561
794ABCD1X0.755585344057195472238152990734-152990737, 152990749-152990750, 152990765-152990812, 152990834-152990864, 152990928-152990939, 152990942-152990953, 152990960-152990961, 152990979-152991011, 152991084, 152991104-152991106, 152991117-152991121, 152991169-152991182, 152991341-152991383, 152991430-152991450, 152991455, 152991532-152991534, 152991562, 152991595, 153001575, 153001685-153001708, 153001853-153001862, 153002611-153002640, 153002670-153002671, 153002683, 153005556-153005560, 153005571-153005572, 153005650-153005653, 153005679-153005680, 153005683, 153005688, 153006034, 153006134-153006144, 153008455-153008487, 153008675-153008706, 153008756-153008791, 153008943-153008955, 153008981-153009020, 153009052, 153009058, 153009083-153009125, 153009140, 153009175-153009189
795L1CAMX0.963698993110761373774153129004, 153129362-153129369, 153130321, 153130932, 153132543, 153132823, 153132879-153132883, 153133279, 153133335, 153133833, 153135107-153135118, 153135378, 153135381, 153135511-153135530, 153135591-153135593, 153135601, 153135893-153135896, 153135899-153135903, 153136261-153136268, 153136512-153136546, 153136585-153136595, 153137616, 153137626-153137627, 153137650, 153141219-153141229
796MECP2X0.94655978623914801497153296033, 153297871, 153297874-153297889, 153363061-153363122
797OPN1LWX0.95981735159817441095153418453-153418472, 153418521-153418544
798OPN1MWX0.95707762557078471095153453340, 153455587-153455601, 153455651-153455674, 153458983-153458988, 153459080
799OPN1MWX0.9634703196347401095153490458, 153492713-153492719, 153492769-153492792, 153496107, 153496113-153496114, 153496121, 153496125, 153496160, 153496164, 153496198
800FLNAX0.6594914400805627057944153577261-153577272, 153577299-153577305, 153577369-153577404, 153577776-153577789, 153577813-153577829, 153577870-153577893, 153577912-153577933, 153578032-153578036, 153578039-153578040, 153578085, 153578168-153578172, 153578420, 153578428-153578438, 153578464-153578465, 153578575, 153579290-153579320, 153579323, 153579370-153579373, 153579383, 153579951, 153580049, 153580263-153580266, 153580302, 153580352, 153580627, 153580631-153580637, 153580641, 153580708-153580742, 153580762-153580773, 153580792-153580815, 153580936-153580938, 153580941-153580944, 153580948-153580952, 153580994-153581012, 153581031-153581034, 153581040-153581043, 153581183-153581186, 153581191, 153581214, 153581217, 153581253, 153581369-153581405, 153581424, 153581427-153581436, 153581472-153581476, 153581502-153581556, 153581689-153581693, 153581705-153581706, 153581723-153581756, 153581768-153581788, 153581804-153581825, 153581922, 153581929, 153581975-153581988, 153582017-153582045, 153582081-153582095, 153582285, 153582298-153582314, 153582383-153582411, 153582540-153582565, 153582766-153582771, 153583063-153583079, 153583198, 153583212-153583214, 153583293, 153583309-153583348, 153583390-153583427, 153583432-153583435, 153585802-153585851, 153585881-153585888, 153585913-153585918, 153585926-153585934, 153585944-153585959, 153586574-153586582, 153586606, 153586615-153586618, 153586671, 153586696, 153586822-153586866, 153586869, 153586904-153586936, 153587406-153587407, 153587416-153587429, 153587461-153587465, 153587468-153587469, 153587476-153587504, 153587513, 153587614-153587658, 153587667-153587670, 153587673-153587676, 153587686-153587725, 153587893-153587895, 153587902, 153587921-153587948, 153587987-153587993, 153587999-153588014, 153588103-153588137, 153588153-153588222, 153588242, 153588367-153588426, 153588439-153588455, 153588457-153588458, 153588460, 153588470-153588477, 153588507-153588545, 153588553, 153588556, 153588620-153588671, 153588707-153588733, 153588742-153588746, 153588777, 153588803-153588828, 153588853-153588862, 153588886-153588954, 153589676-153589771, 153589790-153589825, 153589834-153589848, 153589883-153589920, 153590038-153590044, 153590120-153590121, 153590347-153590349, 153590366-153590370, 153590386-153590447, 153590464-153590480, 153590610-153590616, 153590623-153590666, 153590786-153590828, 153590839, 153590852-153590871, 153590901, 153590919-153590946, 153591029-153591032, 153591047-153591054, 153591058, 153591077, 153591107-153591113, 153591147, 153592410-153592412, 153592490-153592499, 153592642-153592678, 153592689-153592725, 153592898-153592926, 153592969-153592972, 153593052-153593087, 153593519, 153593556-153593572, 153593602-153593627, 153593717-153593728, 153593763, 153593773-153593774, 153593784-153593790, 153593846, 153594401, 153594404, 153594409-153594438, 153594463-153594464, 153594469-153594484, 153594505, 153594552, 153594689, 153594707-153594708, 153594740-153594787, 153594820-153594821, 153594930-153594954, 153595162-153595168, 153595214-153595218, 153595783-153595806, 153595842, 153595845, 153595849, 153595878, 153595886, 153595890, 153595905-153595912, 153596014-153596053, 153596078-153596081, 153596222-153596226, 153596252-153596259, 153596275-153596312, 153596337-153596383, 153599282, 153599287, 153599297-153599298, 153599345-153599361, 153599393-153599420, 153599443, 153599462, 153599471-153599490, 153599527-153599553, 153599564-153599601
801EMDX0.65882352941176261765153607845-153607876, 153607919, 153608059-153608087, 153608136-153608154, 153608327-153608338, 153608343-153608351, 153608596-153608600, 153608609-153608619, 153608625-153608626, 153608703-153608711, 153608717, 153609113-153609149, 153609277, 153609289-153609294, 153609297, 153609300, 153609322, 153609368-153609399, 153609506-153609557
802TAZX0.89353612167384789153640269-153640276, 153640285-153640289, 153640423-153640452, 153640472-153640479, 153640503, 153640515-153640522, 153640525, 153641882-153641904
803GDI1X0.9933035714285791344153665623-153665626, 153666897-153666901
804G6PDX0.927960927960931181638153760250-153760272, 153760287, 153760305, 153760403-153760409, 153760607-153760612, 153760644, 153760655, 153760783-153760796, 153760862-153760871, 153760927, 153761157-153761175, 153761278, 153761288, 153761834-153761837, 153762556-153762562, 153763395-153763405, 153764160, 153764186-153764192, 153764195, 153764363
805IKBKGX0.97472677595628371464153784526-153784532, 153786794-153786800, 153792573-153792595
806IKBKGX0.9529652351738223489153868332-153868354
807DKC1X0.99029126213592151545153994257, 154001470-154001475, 154001481-154001487, 154001492
808F8X0.99759070294785177056154158234-154158244, 154158461-154158466
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
2POLG-G517Vhet unknown0.005Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
2DPYD-M166Vhet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
2DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2SP110-M523Thet unknown0.415Unknown
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-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
2CHIT1-G102Shomozygous0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2PCSK9-V474Ihet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T3945Ahet unknownUnknown
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-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R1128Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-LAL12Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5AKAP10-I646Vhomozygous0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-R249Hhomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5BRCA2-T1915Mhet unknown0.021Unknown
protective
Low clinical importance,
uncertain
Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed.
1.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5EPOR-N487Shet unknown0.006Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.47 (possibly damaging)
1.5PRF1-A91Vhet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125RYR2-G1886Shet unknown0.061Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125RYR2-Q2958Rhomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AKAP9-M463Ihomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1OCA2-R419Qhomozygous0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KCNJ10-R271Chet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
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
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EPHX1-Y113Hhomozygous0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
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-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R162Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F119Yhet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A118Ghet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G102Rhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D89Vhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Y62Hhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Yhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FLG-R3564Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-Q948Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-D5ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1GSTP1-I105Vhomozygous0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GSTP1-A114Vhomozygous0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
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
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-T425Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1ADA-D8Nhet unknown0.030Dominant
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EXOSC3-Y225Hhomozygous0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT10-I101SFGGGSFGGGShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NPC1-I858Vhomozygous0.445Unknown
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
1HNF1A-I27Lhomozygous0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-G292Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CCDC60-G398Dhomozygous0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-P250Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PADI6-A96Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
1SEPT9-P145Lhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FCRLB-T32Ihomozygous0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, 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
1IER5-V168IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1IER5-Q202Rhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IER5-P285Shomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1FAM58A-R109Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1COPZ2-G19ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.75ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-A859Vhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75HTT-P73Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HTT-E2643Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RYR1-E3583Qhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.583 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX10-T274Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.221 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM98C-C227Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5THAP8-K112Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5THAP8-R70Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF543-P55Ahet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.342 (possibly damaging)
0.5ZNF543-Q107Rhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF543-L246Hhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF543-G559Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CC2D2B-Q401Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5VWA3B-I513Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5VWA3B-L677Vhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-V885Mhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-R1245Khomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CALHM1-L86Phomozygous0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MOGS-G785Shet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOGS-P293Shet unknown0.332Unknown
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
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-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-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-H1991Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5CDH23-R3Chet unknown0.123Unknown
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
0.5CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2CR11-C1039Ghomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2CR11-P460Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ALS2CR11-H376Qhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AOX1-N1135Shomozygous0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL5A2-P833Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-V512Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.445 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R32283Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-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
0.5BMPR1A-P2Thomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V1922VVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYSF-R826Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIM22-D155Nhomozygous0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5TRIM22-R242Thet unknown0.511Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TRIM22-R321Khet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5MRPL23-R11Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MRPL23-G32Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-E144Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM83E-T91Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CARD8-Q356Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5CARD8-C10*het unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1125Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRX-A244Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-R487Chet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLF11-Q62Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.5RAD51AP2-R976Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5RAD51AP2-V876Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.242 (possibly damaging)
0.5RAD51AP2-S760Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5RAD51AP2-C533Yhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RAD51AP2-T531Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5RAD51AP2-Q490Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5RAD51AP2-T488Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.375 (possibly damaging)
0.5NR_003131-Q17Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADRB1-S49Ghet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GKN2-D65Yhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRLHR-P305Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.725 (possibly damaging)
0.5PRLHR-I283Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALK-D1529Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-V476Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPING1-V480Mhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
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-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5MOAP1-V197Mhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACOT4-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
0.5HYLS1-C31Rhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-N2633Shet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL10RA-R351Ghomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL10RA-S420Lhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-T898Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5TRPM1-N1229Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MGA-P628Qhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MGA-T716Shomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-P1523Ahet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (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
0.5ATM-P1054Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5CYP1A1-T461Nhet unknown0.036Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GATM-Q110Hhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPTBN5-N3529Thomozygous0.909Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-A3240Ghet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Q2827Rhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Q2816Ehet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-G2786Rhet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-T2678Ihet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-R1848*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPTBN5-R1310Hhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-V1025Ihomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-C1000Rhomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-H398Rhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-G36Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhomozygous0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-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
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R521Hhomozygous0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KNTC1-K245Nhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5GPR133-S523Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACADS-G209Shomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGA7-R655Hhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGA7-R279Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5HEBP1-E183Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5B4GALNT3-R992Hhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1447Thet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-P923Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shomozygous0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROZ-R295Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.884 (probably damaging)
0.5IRS2-G1057Dhomozygous0.233Unknown
protective
Low clinical importance,
uncertain
a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003).
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLECL1-H7Qhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.944 (probably damaging)
0.5VWF-G2705Rhet unknown0.046Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), 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
0.5WNK1-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
0.5NPAT-N999Khet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NPAT-V575Ihomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FANCI-P55Lhet unknown0.051Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-S1634Ghomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC4A1-K56Ehet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAPT-P202Lhomozygous0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-D285Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAPT-V289Ahomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-R370Whomozygous0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-S447Phomozygous0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-R95Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging)
0.5IDH1-Y183Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5CCDC55-K86Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5UNC45B-C786Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5YIF1A-P37Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABI3-R44Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABI3-F209Shomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GIF-Q23Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5OR10V1-Q123Rhomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-V117Ahet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-A67Ehet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5TSEN54-V190Mhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COG1-N392Shomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOH-W335Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5APOH-V266Lhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5APOH-R154Hhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5APOH-I141Thet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPN3-R170Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5EPN3-P544Thet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5RIN1-R238Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5RIN1-A79Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5DNAH9-Q445Rhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH9-M604Vhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAH9-R2162Khet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DNAH9-N2195Shet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.174 (benign)
0.5DNAH9-D4036Nhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5DNAH9-M4374Ihet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.659 (possibly damaging)
0.5IL4R-I75Vhet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-P675Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging)
0.5KIAA0556-R885Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5KIAA0556-A1267Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0556-R1368Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SH2B1-T484Ahomozygous0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPC6-A404Vhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5ZNF598-R739Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF598-G6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIAA1377-G238Chomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1377-H308Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CES1-H285Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CES1-A270Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CES1-D204Ehet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CES1-S76Nhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CES1-S12Ahet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C1QBP-T130Mhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH2-T3600Ihomozygous0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH2-P4325Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-AV711DGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-W719Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB1-A961Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC7A6OS-Y220Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SLC7A6OS-G45Dhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NQO1-R139Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.946 (probably damaging)
0.5PLCG2-R268Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.068Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO4-G372Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL9A1-Q621Rhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhomozygous0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5FIG4-M364Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.5FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R182Hhet unknown0.044Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.038 (benign), Testable gene in GeneTests
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.524Unknown
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-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL17F-V155Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.564 (possibly damaging)
0.5GFI1-S36Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (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
0.5DNAH11-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-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-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
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ORC1-S269Lhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.825 (possibly damaging), Testable gene in GeneTests
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
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GJA1-A253Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHG1-V1071Ahet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLEKHG1-G1081Ehet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLEKHG1-L1321Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-T8687Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-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-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
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-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-K276Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SH3TC2-V1158Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDC25C-G297Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CEP120-R947Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CEP120-Q879Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEP120-L602Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-G754Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5TTF2-K167Ehomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5TTF2-K1134Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging)
0.5MICA-A47Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-H179Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T494Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-S457Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-NA453DPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V449Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-N447Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FLT4-R1146Hhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
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-I338Thet unknown0.038Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably 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
0.5ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-K1587Rhet unknown0.582Unknown
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
0.5MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5S1PR3-R243Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TMEM67-L437Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPHA8-G45Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5EPHA8-P607Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-R346Khomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5IFNK-W13Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IFNK-K133Ehomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DFNB31-V783Ahomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAGEE2-E120*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MAGEE1-Q309Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAGEE1-P310Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAGEE1-A312Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MAGEE1-S316Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-V767Lhet unknown0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
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
0.5SLC16A2-S107Phomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhet unknown0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2155Whet unknown0.027Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.942 (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
0.5CNGB3-T298Phet unknown0.643Unknown
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
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC032716-S4Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ASB15-P57Lhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASB15-D241Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ASB15-G357Ahomozygous0.717Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5METTL2B-V68Ihomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5METTL2B-V266Ihomozygous0.970Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5METTL2B-R302Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAAH-P129Thomozygous0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5STIL-H985Rhomozygous0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihomozygous0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FUCA1-Q286Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FUCA1-P10Rhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RP1-N985Yhomozygous0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.5RP1-C2033Yhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-C6Rhomozygous0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5ASAH1-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-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLL3-G845Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5MLL3-N729Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLL3-L291Fhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5MCPH1-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
0.5MCPH1-A761Vhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCN3-L117Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A3GALT2-T106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NDUFS2-P352Ahet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-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
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NLRP3-Q705Khet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC39A12-S36Ghet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC39A12-V304Ihet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC39A12-Q342Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5TRIOBP-R1344Qhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.869 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-E1372Dhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhet unknown0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PIWIL3-V418Mhomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PIWIL3-P375Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.856 (probably damaging)
0.5KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (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
0.5TTLL3-M502Rhomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTLL3-R561*het unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TSEN2-R126Hhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5ITIH3-T340Mhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5QARS-N285Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MYOC-K398Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5RFTN1-G517Shifthet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RFTN1-V421Ihet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.235 (possibly damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5PCNT-H237Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.088 (benign), Testable gene in GeneTests
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-IK2163KEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-W2239Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-P2377Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5PRKG1-N267Shet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AGXT-P11Lhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGXT-L15Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UNC5B-I242Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5SALL4-L507Rhomozygous0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (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
0.5SLC19A1-H27Rhomozygous0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5COL6A2-D227Nhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.184 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYO3A-R319Hhet unknown0.488Unknown
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-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
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
0.5PFKL-V717Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging)
0.5PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5RBP3-R346Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PPYR1-R240Chet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.332 (possibly damaging)
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5OR13A1-Y269Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-K804Delhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEIL3-P117Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-H286Rhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5NEIL3-P443Lhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC10A6-S6Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPATA18-I57Fhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5SPATA18-S227Phet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNA1S-L1800Shet unknown0.272Unknown
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
0.5PRG4-R180Whomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SMG7-P674Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-S3935Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L1339Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-N751Khet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEATR7B2-D1529Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5HEATR7B2-L1179Phomozygous0.839Unknown
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-R526Hhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.947 (probably damaging)
0.5HEATR7B2-V496Ihomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-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
0.5HEATR7B2-M11Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
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
0.5KIAA1109-I978Thet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1109-R2222Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOR1AIP1-M146Thet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOR1AIP1-P276Rhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5TOR1AIP1-Q293Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5LEFTY2-P286Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TLR10-L696Fhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5TLR10-I369Lhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR10-M326Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5TLR10-V298Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5TLR10-N241Hhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5TLR10-A163Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
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
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5RTP4-D109Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5RTP4-T131Mhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RTP4-C169Yhet unknown0.776Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RTP4-A204Dhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-R97Chet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.933 (probably damaging)
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-I455Vhomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-V500Ihet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5USH2A-R2354Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-V230Mhet unknown0.016Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375COL6A1-I191Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375AIPL1-A336Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.375HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.375HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.375HMCN1-T5004Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SPATA7-M1Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CLCN2-DL29AVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CROCC-R295Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CROCC-A609Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CROCC-G845Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CROCC-A867Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.25CROCC-A888Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25PTCHD2-G182Shet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PTCHD2-C483Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PTCHD2-G661Ahet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
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
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25ACADSB-I316Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUTYH-A392Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUTYH-Q311Hhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), 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
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25FAT3-Q1726Rhomozygous0.796Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25FAT3-P2082Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAT3-I2755Vhomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAT3-V3518Lhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAT3-S3812Ghomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25TRPM5-G900Shet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRPM5-G257Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TRPM5-V254Ahet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OR4A5-G309*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25OR4A5-Y161Chet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.13 (benign)
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NM_138368-G337*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NM_138368-E330Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L828Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTPN22-W620Rhet unknown0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE4DIP-D1910Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE4DIP-R1867Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25PDE4DIP-A1757Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PDE4DIP-V1736Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.25PDE4DIP-L1727Phet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE4DIP-Q1665Shifthet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PDE4DIP-R1504Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PDE4DIP-W1396Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE4DIP-A1066Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.123 (benign)
0.25PDE4DIP-F1013Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE4DIP-C708Rhet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PDE4DIP-R681Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25PDE4DIP-R622*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PDE4DIP-W560*het unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PDE4DIP-S536Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.914 (probably damaging)
0.25PDE4DIP-A487Shifthet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PDE4DIP-H482Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE4DIP-L418Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PDE4DIP-E410Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.25PDE4DIP-R295Hhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25PDE4DIP-S275Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.419 (possibly damaging)
0.25PDE4DIP-R25Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25NRAP-R1566Chet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25NRAP-L1531Phet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.25NRAP-I1183Vhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-S490Lhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.25NRAP-Q360Rhet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-Y249Chet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25NRAP-V208Ahet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK298931-E88QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANK2-V2369Ahet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25MANBA-T701Mhet unknown0.552Unknown
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
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ETFDH-T31Ihomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ETFDH-S543Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25FBXL21-V172Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FBXL21-P208Lhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TERT-Q722Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TERT-A279Thet unknown0.020Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25SLC2A9-P350Lhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-G25Rhomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25C21orf58-P194Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C21orf58-T181Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRODH-R521Qhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRPM2-Q1189Rhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRPM2-E1383Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TRPM2-P1388Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL7A1-P595Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25PRSS50-Q75Phet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.25PRSS50-L72Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25SFTPC-S186Nhet unknown0.261Unknown
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
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DLC1-V791Mhet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DLC1-T260Ihomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DLC1-QN254HDhomozygous0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DLC1-T49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCN1-G118Whet unknown0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-V159Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFNA10-L112Ihet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZXDA-H141Rhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZXDA-Q138Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZXDA-C135Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25F8-D1260Ehet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAAT-R201Phet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), 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
0.25TRPM6-V1393Ihet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25AK303497-W68*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK303497-Y76Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF117-R428*homozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25ZNF117-T294Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF117-K112Nhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.071 (benign)
0.25ZNF117-C83Yhet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.214 (possibly damaging)
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-A245Thet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25BX648746-R186Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25BX648746-I185Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BX648746-P43Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A16-M409Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NM_001037335-V1308Lhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25NM_001037335-Y342*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ASXL1-G645Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ASXL1-L814Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBXL19-E10Khet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBXL19-E206Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLYR1-H459Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLYR1-R381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-G713Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ADAMTSL3-L869Fhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.25ADAMTSL3-E893Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25GPR179-E2332Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR179-P1977Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.614 (possibly damaging)
0.25MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1668Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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
0.25KRT5-S528Ghet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25C14orf105-Y235ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf105-Q183*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PAX9-A240Phet unknown0.311Unknown
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
0.25UTP14C-G85Vhet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UTP14C-Y738*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NR_028064-AHTG136TRAHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_028064-T132Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RNF43-P686Rhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.777 (possibly damaging)
0.25RNF43-L418Mhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NAT8B-G111Ahomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT8B-A49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NAT8B-R22Ghomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLR1A-K1355*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25POLR1A-P150Ahomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLEK-G194Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLEK-R340Khet unknown0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NT5DC4-R46HhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.312 (possibly damaging)
0.25NT5DC4-D73Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NT5DC4-Y283Shomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MKKS-R517Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-N83Shet unknown0.341Unknown
not reviewed
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
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRCD-Q153Phomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRCD-C231Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRCD-W238Rhomozygous0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25C17orf54-A146ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf54-C131ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf54-L161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C17orf54-L161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAI2-A558Thet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-K640Ehet unknown0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DMKN-D427Ahomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DMKN-Q380*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25DMKN-G280Shet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DMKN-N139Shet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.133 (benign)
0.25DMKN-V91Ahomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25TGFB1-P10Lhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,693,785,734 bases (95.1% of callable positions, 89.1% of total positions)

Coding region coverage: 31,701,562 bases (95.4% of all genes, 96.4% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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