hu1DD730 - GET-Evidence variant report

Variant report for hu1DD730

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1MYL2-N47KHighUncertainUncertain pathogenic

Dominant, Heterozygous
Reported in ClinVar by multiple groups, potentially causing cardiomyopathy in a dominant fashion (http://www.ncbi.nlm.nih.gov/clinvar/variation/31766/). GeneDx classified this as pathogenic, and other groups classified the effect as uncertain. However, according to ExAC data 1 in 1700 with European descent carry this variant. This could be seen as contradicting the proposed effect, because such a high frequency would suggest this variant (if causal) should account for a large fraction of cases and should thus have strong supporting evidence (i.e. far stronger than "uncertain" status with specialist groups).1
2PEX1-I696MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0270547Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.1
3PHKB-M185IModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0105116Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance.1
4HFE-C282YLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0494516This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition.1
5COL4A1-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
6MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
7AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
8rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
9H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Homozygous
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
10RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
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
11LRP5-A1330VLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.110367In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. 1
12ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
13TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
14BRCA2-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
15WFS1-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
16SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
17HFE-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
18ITPA-P32TLowWell-establishedWell-established pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0609779This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.1
19rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
20FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
21CFB-R32QModerateLikelyLikely protective

Dominant, Heterozygous
0.117188This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.1
22NPC1-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
23KCNJ11-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
24IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
25MTR-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
26ADA-K80RLowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0635806This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.1
27JAK3-P151RLowLikelyLikely benign

Unknown, Heterozygous
Reported in ClinVar to cause Severe Combined Immunodeficiency Disease (aka "bubble boy disease"). However the variant is carried by nearly 1 in 100 individuals with European ancestry, and 1 in 12,000 are predicted to be homozygous. The disease is extremely rare -- highest estimate is 1 in 50,000 -- the high frequency of this variant means it cannot be a cause of this disease.1
28PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
29NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
30CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
31MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.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
33RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
34ALOX12B-P127SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.0167317This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP.1
35TXNDC3-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
36TYR-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
37AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
38PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 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
40FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
41F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
42KRT85-R78HLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.042466Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect.1
43F5-D2222GLowUncertainUncertain benign

Unknown, Heterozygous
0.0448968Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.1
44TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
45SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
46APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
47TAS2R38-A49PLowUncertainUncertain benign

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

Exome coverage: 31433505 / 33212919 = 94.64%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.3608667318344739236138955553-955753, 957581-957582, 957597-957642, 957656-957842, 970657-970665, 970672-970704, 976045-976090, 976103-976107, 976113-976142, 976167-976260, 976553-976777, 976862-976929, 976940-976984, 977050-977070, 977346-977353, 977404-977463, 977474-977477, 977482-977483, 977489, 977509, 977523-977524, 977531, 978619-978678, 978687-978689, 978698-978700, 978704-978711, 978718-978723, 978762-978786, 978801, 978812-978837, 978925-978976, 978986, 978989, 979027-979083, 979095-979101, 979203-979208, 979226-979229, 979232, 979235-979239, 979243, 979264-979265, 979275, 979279, 979305-979326, 979345-979403, 979489-979553, 979582-979623, 979720-979754, 979785-979819, 980541-980615, 980739, 980798-980834, 980844-980882, 980894-980903, 981156-981179, 981198, 981207-981214, 981239-981256, 981357, 981385, 981445, 981450-981454, 981554-981577, 981610-981645, 981781-981828, 981847-981860, 981891-981945, 981971-981996, 982005-982007, 982040-982051, 982065-982095, 982114, 982200-982230, 982246-982293, 982316-982331, 982337, 982721, 982728-982745, 982774-982798, 982811, 982953-982960, 982981, 982991-982994, 982997-982999, 983042-983067, 983180-983212, 983249-983255, 983392-983460, 983481-983514, 983534-983550, 983556-983745, 984247-984422, 984433-984439, 984621-984809, 984946-984970, 984993-984998, 985011-985047, 985067-985145, 985154-985175, 985309-985316, 985331-985379, 985387-985407, 985613-985633, 985650-985698, 985819-985828, 985834, 985873-985898, 985967-985971, 986106-986117, 986127-986162, 986182-986185, 986633-986668, 986673, 986688-986690, 986710, 986725-986749, 986833-986876, 986884-986975, 986997-987002, 987108-987191, 989136-989138, 989143-989149, 989205-989219, 989313-989315, 989858-989859, 989867-989931, 990204-990315, 990345-990361
2GABRD10.4716703458425371813591950863-1950930, 1956428-1956435, 1956463, 1956487, 1956492, 1956773-1956790, 1956831-1956834, 1956957-1956977, 1956991-1957013, 1957037, 1957046, 1957066-1957072, 1957098, 1957124-1957177, 1959066, 1959612-1959614, 1959618-1959635, 1959677-1959717, 1959731, 1960550-1960567, 1960577-1960644, 1960661-1960705, 1960990-1961035, 1961055-1961091, 1961110, 1961130-1961177, 1961180-1961198, 1961422-1961485, 1961520, 1961557-1961567, 1961570, 1961602-1961654, 1961681-1961688, 1961697-1961721
3PEX1010.650356778797153439812337228, 2337245, 2337265-2337273, 2337923-2337957, 2337984-2338051, 2338179-2338183, 2338226-2338232, 2338256-2338293, 2338310-2338323, 2339993-2340041, 2340134, 2340137, 2340159, 2340189-2340190, 2340194-2340203, 2340273-2340275, 2341834-2341835, 2343830-2343874, 2343891-2343941
4NPHP410.9364634431207727242815924558-5924561, 5925185, 5934679-5934685, 5935150-5935157, 5947513-5947519, 5950942-5950969, 5950993-5951003, 6012796, 6012836-6012841, 6012860, 6021854-6021855, 6021895-6021897, 6021902, 6029153-6029162, 6038330-6038473, 6046218-6046252, 6046347-6046349
5ESPN10.6241715399610196425656485016-6485191, 6485199-6485235, 6485247-6485309, 6488286-6488308, 6488319-6488337, 6488377-6488392, 6488426-6488451, 6488460-6488479, 6500382-6500395, 6500409-6500488, 6500695, 6500698-6500727, 6500741, 6500750-6500800, 6500813-6500819, 6500829-6500868, 6500994-6501011, 6501100, 6505726-6505755, 6505776-6505820, 6505844-6505866, 6505888-6505920, 6508760-6508766, 6508828-6508857, 6508882-6508888, 6508922-6508928, 6508973-6508988, 6509017-6509060, 6511907-6511950, 6512106-6512146, 6517286-6517292, 6520198-6520204
6PLEKHG510.9366572593289420231896527886-6527895, 6527978, 6528116-6528125, 6528133-6528134, 6528278, 6528282, 6528541, 6529252-6529258, 6529496, 6529689-6529691, 6529696-6529701, 6529718-6529723, 6530944, 6532631, 6532654, 6533407-6533412, 6533416, 6534144-6534184, 6534520-6534541, 6534552-6534569, 6534612-6534647, 6535183-6535198, 6556564-6556566, 6556569, 6556572, 6556576, 6557380-6557383
7PEX1410.9276895943562682113410678453, 10684425, 10684436-10684453, 10687360, 10689680, 10689683, 10689687-10689689, 10689742-10689748, 10689833-10689841, 10689893-10689896, 10689968, 10690010-10690044
8TARDBP10.9269076305220991124511082336-11082362, 11082519-11082538, 11082566-11082609
9MASP210.73896166909267538206111087242-11087245, 11087379-11087391, 11087426, 11090233-11090234, 11090813, 11090818, 11090831, 11090834-11090838, 11090886, 11094902, 11097750-11097751, 11097786-11097790, 11097794-11097798, 11097832-11097868, 11102936-11103005, 11103021-11103030, 11103060-11103079, 11103412-11103417, 11103422-11103515, 11103532, 11103556-11103592, 11105465-11105479, 11105489-11105524, 11105552-11105589, 11106618, 11106621-11106631, 11106635, 11106667-11106686, 11106698, 11106741-11106762, 11106766-11106767, 11106773-11106774, 11106978-11107010, 11107067-11107073, 11107105-11107126, 11107131, 11107156, 11107163-11107165, 11107260-11107264
10MTHFR10.9934043632673813197111853985-11853991, 11854544-11854546, 11854552, 11855385, 11861285
11PLOD110.975732600732653218411994855-11994863, 11994877, 12009846, 12023674-12023677, 12024842, 12025545-12025547, 12026318-12026330, 12030762-12030763, 12030768, 12030851-12030867, 12034738
12MFN210.998240985048374227412062044-12062047
13CLCNKA10.65261627906977717206416349136-16349152, 16349176-16349192, 16351363, 16351373, 16353053, 16353072, 16353245-16353252, 16353264-16353265, 16353809, 16353837, 16354363-16354397, 16355267, 16355276-16355300, 16355628-16355634, 16355663-16355664, 16355667-16355671, 16355676-16355678, 16355738-16355745, 16355793-16355794, 16356272-16356276, 16356280, 16356460-16356482, 16356489-16356570, 16356956-16357014, 16357030-16357120, 16357137-16357138, 16357142, 16357149, 16358205-16358235, 16358256-16358305, 16358312-16358338, 16358698-16358786, 16358938-16358947, 16358971-16358993, 16359011-16359021, 16359665, 16359676-16359736, 16360106-16360116
14CLCNKB10.74660852713178523206416371067, 16372055, 16372069, 16372072, 16372077-16372078, 16372118-16372130, 16372146-16372149, 16372179-16372181, 16373047, 16373124-16373129, 16373152-16373153, 16374519-16374528, 16374533, 16375045-16375065, 16375656, 16375659, 16376163-16376164, 16377019, 16377386-16377408, 16377470-16377495, 16377542, 16377994, 16378013, 16378019, 16378030-16378040, 16378215-16378216, 16378227, 16378243, 16378247, 16378261-16378284, 16378290-16378315, 16378693-16378711, 16378714-16378736, 16378761-16378866, 16378883-16378897, 16380138, 16380141, 16380176, 16380196, 16380225, 16380228-16380258, 16380264, 16381932-16381957, 16381990-16382018, 16382170-16382185, 16382218-16382253, 16382956-16382961, 16383364-16383369, 16383399-16383411
15ATP13A210.87129551227773456354317312716-17312717, 17312772-17312780, 17312849-17312850, 17312993-17313007, 17313012, 17313039-17313046, 17313049-17313050, 17313308-17313311, 17313349-17313363, 17313550-17313553, 17313583-17313620, 17313690-17313699, 17313727-17313736, 17314704-17314705, 17314826-17314867, 17314963, 17314967, 17316408, 17318256-17318259, 17318339-17318353, 17318802-17318804, 17320266-17320269, 17320304, 17322553-17322559, 17322572-17322620, 17322628-17322643, 17322650, 17322654, 17322914-17322953, 17322980-17322991, 17323515-17323517, 17323540-17323542, 17323545-17323626, 17326560-17326580, 17326781-17326807
16ALDH4A110.971040189125349169219199371-19199372, 19204037-19204043, 19208331-19208334, 19208341-19208354, 19209672, 19209773-19209778, 19209816-19209823, 19209885, 19209917-19209921, 19215888
17PINK110.995990836197027174620960088-20960093, 20960326
18ALPL10.9733333333333342157521887237-21887238, 21894620-21894623, 21896864-21896865, 21900171-21900176, 21900226-21900249, 21903990-21903992, 21903996
19HSPG210.982088646023072361317622149829-22149830, 22149890, 22150662-22150697, 22150818-22150821, 22151042-22151048, 22151199-22151202, 22151231-22151236, 22151264, 22151271, 22154593-22154596, 22154634-22154640, 22154760-22154778, 22154788, 22155430, 22155483-22155500, 22156001, 22156086-22156088, 22156576-22156582, 22165453-22165458, 22167653-22167656, 22167767-22167768, 22168107, 22174296, 22174299, 22174531, 22175396-22175405, 22176877-22176883, 22176936, 22181203, 22181417-22181420, 22186670-22186671, 22199147-22199154, 22199532, 22263648-22263710
20WNT410.9384469696969765105622456116-22456123, 22469339, 22469360-22469415
21HMGCL10.9918200408998897824134721, 24134752-24134757, 24134810
22FUCA110.9607423269093555140124189709-24189732, 24194433-24194434, 24194638-24194649, 24194652-24194655, 24194669-24194674, 24194681, 24194718-24194720, 24194725-24194726, 24194748
23LDLRAP110.975188781014022392725893431-25893453
24SEPN110.89028776978417183166826126722-26126904
25YARS10.996849401386265158733252591-33252595
26KCNQ410.93295019157088140208841249783-41249790, 41249801, 41249812-41249815, 41249840-41249876, 41249890-41249900, 41249920-41249950, 41249957-41249984, 41250018-41250037
27LEPRE110.999095431931252221143213961, 43215955
28UROD10.99818840579712110445478636-45478637
29STIL10.998707008016555386747725996-47725998, 47735376-47735377
30ORC110.999613302397531258652839042
31PCSK910.9721019721019758207955505553-55505555, 55518055, 55521691-55521700, 55521710-55521715, 55521724-55521727, 55521740-55521745, 55521753, 55521837-55521857, 55521859, 55523012, 55524237, 55524244, 55524280, 55527144
32ALG610.997385620915034153063867928-63867930, 63868014
33RPL510.99552572706935489493299196-93299199
34DPYD10.99967511371021307898144688
35AGL10.9995651228527924599100387206-100387207
36COL11A110.99578522997984235457103364222-103364226, 103364262-103364266, 103364284, 103488377-103488383, 103488388, 103544353-103544356
37GSTM110.31659056316591449657110230496-110230531, 110230792-110230813, 110230833-110230867, 110231295-110231324, 110231695-110231727, 110231730-110231751, 110231852-110231947, 110232908-110232960, 110232967-110232988, 110233076-110233175
38VANGL110.9942857142857191575116227965-116227973
39NOTCH210.99015641855448737416120539665-120539714, 120539778-120539784, 120539916, 120539936, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120572609-120572610
40HFE210.9953161592505961281145414844-145414849
41PRPF310.999512670565312052150317010
42FLG10.9220416871820195012186152276393-152276399, 152276452, 152276487-152276493, 152277068, 152277075, 152277270, 152277336, 152277400-152277401, 152278346-152278348, 152278393-152278437, 152278659-152278673, 152279368, 152279381, 152279403-152279410, 152279838-152279851, 152279971-152279980, 152280161-152280194, 152280249, 152280279-152280307, 152280464-152280470, 152280594-152280617, 152281005, 152281270-152281272, 152281319-152281356, 152281386-152281427, 152281487-152281530, 152281576, 152281580-152281581, 152281767-152281776, 152281798-152281824, 152281938, 152281947-152281949, 152281991, 152282003, 152282014, 152282041-152282042, 152282093-152282131, 152282239-152282256, 152282281, 152282293, 152282409, 152282412, 152282455, 152282532-152282561, 152282677-152282688, 152282774-152282775, 152282812, 152282907-152282930, 152283020-152283061, 152283170-152283214, 152283269-152283276, 152283296, 152283502-152283549, 152283736-152283739, 152283859-152283887, 152284008-152284014, 152284241, 152284244, 152284302, 152284494-152284512, 152285031-152285058, 152285113-152285129, 152285144-152285163, 152285188, 152285203, 152285214-152285218, 152285355-152285361, 152285396, 152285409-152285413, 152285686, 152285693, 152285699, 152285751-152285792, 152286202-152286203, 152286216, 152286251, 152286379, 152286593-152286612, 152286715, 152286805-152286810, 152286907-152286924, 152286948, 152286951-152286958, 152287005-152287010, 152287016, 152287023-152287025, 152287134-152287135, 152287836-152287855, 152287867, 152287898
43GBA10.9993792675356911611155205077
44PKLR10.99130434782609151725155269945-155269946, 155269977-155269989
45NTRK110.9966541196152282391156843467-156843474
46MPZ10.9987129987131777161279683
47F510.9988014981273486675169510348, 169510480-169510486
48FMO310.9993746091307111599171076816
49HMCN110.99988171279868216908186062660-186062661
50CFHR110.943605236656656993196796044-196796082, 196797238, 196797244, 196797292, 196797354-196797360, 196799630-196799631, 196799678-196799680, 196801005, 196801023
51ASPM10.99722062488022910434197070049-197070058, 197070290, 197071009, 197072450, 197072456-197072458, 197074221-197074227, 197093386, 197093390-197093394
52CACNA1S10.99768765563856135622201058404-201058410, 201081326-201081331
53PKP110.97157267308574622181201282420, 201282476-201282477, 201282532, 201282535, 201282538-201282567, 201282645, 201282658-201282672, 201294213-201294223
54REN10.99918099918111221204135407
55LAMB310.9997158283603313519209795907
56USH2A10.998718687936452015609215956080, 216173756-216173759, 216251498, 216496840-216496853
57PSEN210.9955456570155961347227071531, 227071600-227071604
58ADCK310.96913580246914601944227149095, 227152833-227152844, 227152862-227152872, 227152917-227152933, 227152953, 227169835, 227171795-227171806, 227173025-227173029
59GJC210.511363636363646451320228345497-228345520, 228345601, 228345628-228345632, 228345635-228345636, 228345640, 228345644, 228345652-228345653, 228345746-228345747, 228345750, 228345771-228345800, 228345813-228345817, 228345824, 228345828, 228345839-228345857, 228345893-228345898, 228345913-228345920, 228345982-228345994, 228346002-228346118, 228346138-228346155, 228346187-228346209, 228346244-228346250, 228346273, 228346280, 228346294-228346335, 228346341-228346355, 228346363-228346506, 228346522-228346569, 228346590, 228346617-228346644, 228346653-228346717, 228346739-228346749, 228346774, 228346777
60ACTA110.98853615520282131134229568053-229568054, 229568085-229568094, 229568321
61GNPAT10.9960841899167982043231398503, 231401136-231401142
62LYST10.99921094160968911406235840845, 235897137, 235897913, 235938318-235938323
63ACTN210.99478584729981142685236907997, 236908000-236908001, 236924391-236924401
64MTR10.9997367035281713798237037092
65RYR210.99959742351047614904237821274-237821276, 237821320-237821322
66FH10.9973907371167641533241663890, 241676924-241676925, 241676928
67IL2RA100.99877899877918196063463
68GATA3100.99700374531835413358100743-8100746
69OPTN100.9925028835063413173413151249-13151261
70CUBN100.99751655629139271087216945965-16945967, 16960629, 16979676-16979677, 16979780, 17142004-17142006, 17142016-17142022, 17142093, 17146471-17146479
71PTF1A100.8804457953394111898723481645-23481649, 23481743-23481781, 23481834-23481896, 23481902-23481906, 23482047-23482052
72MASTL100.9920364050056921263727459140-27459142, 27460012, 27469963-27469979
73RET100.9739910313901387334543572707-43572778, 43595921-43595927, 43600559, 43606854-43606860
74ERCC6100.9899598393574345448250732546-50732548, 50738774, 50740706-50740712, 50740760, 50740777-50740791, 50740822, 50740825, 50740876, 50740884-50740886, 50740925-50740931, 50740934, 50740937, 50740943-50740945
75CHAT100.9857587894971132224750822271-50822279, 50822314, 50822343-50822362, 50822484, 50835780
76KIAA1279100.993569131832812186670760265-70760276
77PRF1100.995803357314157166872358280-72358286
78CDH23100.987669053301511241005673206127, 73206130, 73439217-73439218, 73439222-73439231, 73447412, 73461966-73461967, 73462370, 73464693, 73464731-73464733, 73464736-73464754, 73464765, 73464770-73464771, 73464779, 73464782-73464784, 73464873-73464886, 73490285, 73490298, 73490355, 73494003, 73537498, 73537522-73537526, 73548785, 73548789, 73548793, 73550100-73550106, 73550953-73550955, 73571102-73571107, 73571137, 73571735-73571737, 73571744-73571770, 73574811-73574812
79VCL100.999412628487522340575802910-75802911
80LDB3100.91804029304029179218488466299, 88466452-88466462, 88469662-88469664, 88469675, 88469678, 88476197-88476236, 88476254-88476256, 88476262-88476287, 88476375-88476408, 88476475-88476528, 88478497-88478501
81BMPR1A100.999374609130711159988683146
82GLUD1100.997018485390585167788854516-88854520
83PLCE1100.9975394413084417690996022341-96022344, 96043576, 96043613, 96073014-96073017, 96076361-96076367
84ZFYVE27100.999190938511331123699517402
85HPS1100.97008547008547632106100177365-100177397, 100177939-100177965, 100185427-100185429
86ABCC2100.9969814575248144638101591740-101591741, 101595896, 101601780-101601789, 101604207
87FBXW4100.9975786924939531239103454358-103454360
88HPS6100.9974226804123762328103825440-103825444, 103826059
89SUFU100.99175257731959121455104263990, 104353458-104353467, 104359301
90CYP17A1100.98559266535691221527104592342-104592363
91COL17A1100.9995549621717824494105816916-105816917
92SHOC2100.9994282447112611749112771382
93ARMS2100.97839506172847324124214508-124214514
94HTRA1100.90159390159391421443124221193-124221201, 124221204-124221225, 124221323, 124221325, 124221328-124221341, 124221347-124221362, 124221373-124221401, 124221417, 124221473-124221487, 124221495, 124221506, 124221575-124221598, 124266222-124266229
95OAT100.996969696969741320126097315-126097318
96UROS100.991228070175447798127477454-127477460
97HRAS110.72631578947368156570532648-532688, 532695-532711, 532750-532755, 533508-533514, 533568, 533574, 533581-533590, 533773-533774, 533790-533808, 533811, 533841-533871, 533925-533944
98TALDO1110.852071005917161501014747493-747498, 747550-747578, 758965, 763344-763376, 763390-763425, 763484-763490, 763788-763789, 763900-763915, 764340, 764813-764831
99SLC25A22110.440329218107544972791934, 791955-791987, 792042, 792050, 792055-792064, 792068, 792142-792157, 792164-792171, 792180-792185, 792190-792217, 792323-792345, 792362, 792378, 792395, 792428, 792454-792458, 792553-792560, 792571, 792580-792666, 792677-792727, 792870-792916, 792926-792988, 793542-793591, 794491-794513, 794776-794809, 794819-794829, 794870-794901
100PNPLA2110.590759075907596201515819719-819775, 819786-819905, 821688-821689, 821730-821755, 821787-821789, 821794, 821803, 821832-821833, 821995-822023, 822397-822404, 822475, 822480-822483, 822498-822505, 822521, 823527-823531, 823535-823545, 823564-823587, 823725-823745, 823763-823777, 823833-823835, 823849-823853, 824016-824037, 824063-824085, 824112-824130, 824342-824373, 824382-824427, 824435-824436, 824523-824550, 824606-824640, 824648-824687, 824718, 824724-824732, 824765, 824769-824779, 824806-824808, 824842
101CTSD110.5399515738498857012391774735, 1774741, 1774748, 1774753, 1774774-1774809, 1774828-1774839, 1774845-1774900, 1775033-1775034, 1775038-1775048, 1775104, 1775112-1775124, 1775229-1775251, 1775261-1775290, 1775306-1775327, 1775349-1775368, 1776139, 1776181-1776188, 1778570, 1778581-1778582, 1778587, 1778590-1778605, 1778614, 1778619-1778620, 1778626-1778627, 1778696-1778733, 1778774, 1778777-1778786, 1780199-1780275, 1780290-1780294, 1780304-1780308, 1780316-1780317, 1780768-1780828, 1780842-1780849, 1780860-1780869, 1782539-1782542, 1782553-1782563, 1782567, 1782609-1782613, 1785022-1785089
102TNNI2110.57923497267762315491861455-1861468, 1861633-1861669, 1861758-1861776, 1861805-1861886, 1862049-1862086, 1862107, 1862261-1862292, 1862380-1862386, 1862410
103TNNT3110.157014157014166557771946329-1946346, 1947932, 1947936-1947939, 1950350-1950373, 1951040-1951058, 1953734, 1954951-1955067, 1955161-1955238, 1955562-1955601, 1955611-1955675, 1955776-1955885, 1956059-1956149, 1958193-1958233, 1959671-1959679, 1959686-1959722
104H19110.99253034547152810712017570, 2017818, 2017981-2017982, 2017986, 2018168, 2018171-2018172
105IGF2110.549929676511963207112154217-2154244, 2154253-2154261, 2154311-2154381, 2154394-2154404, 2154414-2154419, 2154771, 2154775-2154778, 2154792-2154807, 2154825, 2154829-2154834, 2154849-2154895, 2156598-2156603, 2156670-2156712, 2156719-2156746, 2161381-2161391, 2161442, 2161445-2161449, 2161501-2161526
106TH110.4076190476190593315752185463-2185496, 2185503-2185506, 2185537, 2185543, 2185560-2185588, 2185617-2185618, 2186479-2186518, 2186538-2186551, 2186560-2186565, 2186586-2186595, 2186898-2186918, 2186946-2186979, 2187232-2187241, 2187252-2187272, 2187285-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188133, 2188138-2188168, 2188197, 2188221, 2188225-2188233, 2188236-2188262, 2188665-2188714, 2189120-2189124, 2189132-2189163, 2189343-2189406, 2189728-2189737, 2189765, 2189784, 2189790-2189794, 2189807, 2189812-2189830, 2189834, 2189837-2189838, 2189842, 2189885-2189895, 2190880-2190894, 2190904, 2190913-2190920, 2190942-2190959, 2190993-2190999, 2191013, 2191018-2191092, 2191920-2192000, 2192993
107KCNQ1110.8572131954702129020312466329-2466411, 2466432-2466471, 2466477-2466540, 2466561-2466622, 2466646-2466647, 2466687-2466714, 2604701-2604705, 2604758-2604759, 2608814-2608817
108CDKN1C110.0788643533123038769512905267-2905303, 2905314-2905316, 2905322-2905364, 2905900-2906658, 2906686-2906719
109SMPD1110.99683544303797618966411931-6411936
110SBF2110.99873873873874755509812118, 9812123-9812128
111ABCC8110.9972608512431513474617498275-17498279, 17498293-17498300
112ANO5110.999635302698761274222277052
113PDHX110.999335989375831150635016631
114ALX4110.996763754045314123644286603-44286606
115SLC35C1110.9820075757575819105645827412-45827413, 45827420, 45827427-45827435, 45827594-45827599, 45832480
116PEX16110.9500480307396752104145931700, 45931703-45931705, 45935980-45935991, 45937373-45937383, 45939258-45939274, 45939282-45939289
117F2110.995184590690219186946744784-46744790, 46745003-46745004
118DDB2110.9844236760124620128447236736, 47237891, 47259428, 47259458, 47259461-47259471, 47259508, 47259523-47259526
119MADD110.9969660194174815494447306081-47306086, 47306089-47306090, 47306096, 47306502-47306506, 47306519
120MYBPC3110.92261437908497296382547353721, 47354144-47354147, 47354214, 47354217, 47354371-47354373, 47354507, 47354510, 47356722-47356728, 47363690, 47367763-47367767, 47367770, 47367878-47367906, 47367911-47367913, 47368982-47369002, 47370057-47370059, 47370061-47370092, 47371466-47371473, 47371574-47371609, 47371621-47371657, 47372091-47372109, 47372116-47372150, 47372870-47372905, 47372948-47372954, 47373053-47373056
121SLC39A13110.999103942652331111647435215
122RAPSN110.9709443099273636123947459546-47459552, 47460344, 47460349-47460356, 47463222-47463226, 47463255, 47469695-47469697, 47470375-47470385
123NDUFS3110.982389937106921479547602444-47602454, 47602497-47602498, 47602505
124GIF110.996012759170655125459603405-59603409
125TMEM216110.99621212121212126461165330
126SDHAF2110.99800399201597150161213475
127SLC22A12110.81708784596871304166264359066-64359087, 64359214, 64359365, 64360279-64360284, 64360878-64360900, 64360923-64360947, 64361164-64361180, 64361196-64361199, 64361211-64361213, 64361230, 64361237, 64365991-64366004, 64366327, 64367148-64367300, 64367313-64367337, 64367358, 64367839-64367843, 64368279
128PYGM110.89837880585212257252964518899-64518907, 64519900, 64519911, 64520552, 64520636, 64521011-64521043, 64521072-64521080, 64521114, 64521370, 64521373-64521388, 64521410-64521426, 64521450, 64521473, 64521483-64521492, 64521495, 64521747-64521775, 64522167, 64522170, 64522272, 64522750-64522753, 64522978, 64525366-64525375, 64525721-64525770, 64525947-64525954, 64526143-64526149, 64526172, 64527134-64527173, 64527340
129MEN1110.9956709956718184864572533, 64572557, 64573160, 64573166, 64573227, 64573715, 64577493, 64577572
130CST6110.968888888888891445065780299-65780304, 65780325, 65780332-65780338
131SPTBN2110.97044472326781212717366466111, 66467999-66468002, 66468136-66468144, 66468272-66468276, 66468285-66468288, 66468303-66468308, 66468311, 66468341-66468346, 66468349-66468350, 66468396-66468402, 66468463, 66468514, 66468516-66468522, 66468752-66468753, 66469182-66469185, 66472081, 66472132-66472146, 66472201, 66472205, 66472582-66472596, 66472627-66472629, 66472696, 66475071-66475081, 66475101-66475131, 66475223-66475253, 66475631, 66475672-66475676, 66476418-66476423, 66478100-66478103, 66481166-66481167, 66481787-66481805, 66481850-66481851, 66482820-66482822
132PC110.91546508340401299353766616478, 66616754-66616756, 66616829, 66617250-66617271, 66617297-66617308, 66617480, 66617545-66617549, 66617746-66617753, 66617761, 66617787-66617810, 66617857, 66618156, 66618161-66618162, 66618218-66618224, 66618227, 66618283-66618289, 66618294, 66618309-66618311, 66618377-66618388, 66618542-66618580, 66618658-66618677, 66619940, 66619943-66619945, 66619948, 66619954, 66619975-66619997, 66620039-66620044, 66620100-66620109, 66620118, 66620260, 66620815, 66620819, 66631270, 66631392, 66631412-66631425, 66633720-66633723, 66633733-66633738, 66638348-66638352, 66638595-66638596, 66638601-66638603, 66638640, 66638643-66638644, 66638786-66638793, 66638816, 66638841, 66638845, 66638895-66638901, 66638905, 66638945-66638951, 66639185, 66639188-66639191, 66639270-66639277
133CABP4110.981884057971011582867222969, 67223126-67223128, 67225925-67225928, 67225943-67225948, 67225979
134AIP110.4974823766364649999367254477-67254490, 67254500, 67254654-67254656, 67256788-67256853, 67256908-67256920, 67256924-67256925, 67257514-67257540, 67257548, 67257559-67257685, 67257787-67257928, 67258259-67258286, 67258292-67258301, 67258343, 67258348, 67258351-67258352, 67258355-67258391, 67258403-67258408, 67258447-67258464
135NDUFS8110.7630331753554515063367799639-67799640, 67799774-67799778, 67799788, 67799793-67799800, 67800397-67800410, 67800414-67800416, 67800443-67800463, 67800657-67800684, 67800697-67800710, 67800718-67800726, 67803732-67803733, 67803736-67803744, 67803799, 67803817-67803820, 67803826-67803840, 67803943-67803952, 67804009-67804011, 67804060
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250CLCN7160.55128205128205108524181496632-1496662, 1496690, 1496693-1496718, 1497009-1497014, 1497028-1497087, 1497393-1497439, 1497446-1497494, 1497516-1497523, 1497534-1497569, 1497656-1497685, 1497705-1497715, 1498356-1498365, 1498372-1498402, 1498410-1498459, 1498466-1498485, 1498683, 1498719, 1498747-1498767, 1498967-1499007, 1499034, 1499047-1499066, 1499280-1499297, 1499304-1499328, 1500498-1500519, 1500551-1500645, 1500659-1500667, 1501635-1501646, 1501671-1501710, 1502774-1502826, 1502843-1502865, 1502874, 1503842-1503875, 1503879, 1504445-1504447, 1505135-1505146, 1505159-1505163, 1505186, 1505195, 1505224, 1505732-1505733, 1505772-1505796, 1506124, 1506146-1506175, 1506182-1506207, 1507710, 1509125-1509135, 1509161, 1509164-1509168, 1509174-1509175, 1511406-1511459, 1524835-1524852, 1524866, 1524899-1524944, 1524971-1524975
251IGFALS160.34937888198758125719321840603-1840610, 1840626, 1840628-1840629, 1840646-1840706, 1840733, 1840736-1840760, 1840768-1841126, 1841135-1841187, 1841199-1841202, 1841208-1841217, 1841228, 1841230, 1841235-1841257, 1841269-1841328, 1841348-1841355, 1841358-1841370, 1841398-1841424, 1841454-1841483, 1841511-1841588, 1841593, 1841599-1841643, 1841646, 1841683, 1841686, 1841695-1841703, 1841710-1841716, 1841738-1841786, 1841793-1841836, 1841855-1841884, 1841892, 1841920, 1841947-1841981, 1841987-1841988, 1842003-1842035, 1842049-1842071, 1842078-1842103, 1842125-1842131, 1842175-1842176, 1842179-1842181, 1842209, 1842215, 1842228-1842230, 1842241-1842307, 1842349-1842388, 1842401, 1842429-1842452, 1842464, 1842468-1842474, 1842501-1842516, 1843638-1843645, 1843652-1843653
252GFER160.336569579288034106182034220-2034226, 2034232-2034293, 2034307-2034477, 2034771, 2034782-2034793, 2034848-2034911, 2034930-2034944, 2035919-2035953, 2035986-2036028
253TSC2160.22824483775811418654242098617-2098638, 2098651-2098681, 2098741-2098754, 2103343-2103352, 2103365-2103450, 2104365-2104436, 2106207, 2106664, 2107110, 2108771-2108773, 2108780, 2108797-2108803, 2108825, 2108837-2108838, 2108847, 2108857-2108874, 2110671-2110703, 2110716-2110746, 2110768-2110810, 2111872-2111883, 2111906-2111923, 2111928, 2111962-2111987, 2112009, 2112498-2112507, 2112514-2112569, 2112575-2112601, 2112973-2112981, 2112992-2113040, 2113050, 2113053, 2114295, 2114298, 2114313-2114334, 2114349-2114428, 2115539, 2115542-2115577, 2115581, 2115594, 2115599-2115611, 2115632-2115636, 2120457-2120470, 2120480-2120514, 2120521, 2120538-2120579, 2121511-2121582, 2121592-2121617, 2121785-2121817, 2121835-2121897, 2121900-2121902, 2121914-2121935, 2122242-2122253, 2122302-2122320, 2122328-2122364, 2122850-2122868, 2122886-2122887, 2122905, 2122934-2122962, 2122982-2122984, 2124229-2124390, 2125800-2125853, 2125874-2125893, 2126069-2126097, 2126105-2126171, 2126492-2126586, 2127599-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136801, 2136813-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
254PKD1160.003485130111524212867129122139728-2140195, 2140286-2140322, 2140332-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185479-2185483, 2185502-2185611, 2185627-2185690
255ABCA3160.8394916911045982151152327620, 2327650, 2327656-2327665, 2327880-2327913, 2327940, 2327944-2327960, 2328305-2328307, 2328316-2328321, 2328330-2328331, 2328383-2328392, 2328396, 2328419, 2328436, 2328993-2328999, 2329033-2329068, 2331040-2331041, 2331166-2331198, 2331212-2331213, 2331216-2331222, 2331382-2331403, 2331406, 2331416-2331426, 2331430, 2331472, 2331499-2331502, 2333187-2333213, 2333243-2333261, 2333302, 2333316, 2334281-2334284, 2334340, 2334343-2334363, 2334395, 2334969-2334999, 2335454-2335501, 2335528, 2335544-2335564, 2335567, 2335573, 2335645-2335647, 2338059-2338089, 2338178-2338180, 2338191, 2338310, 2339489-2339496, 2339545-2339564, 2339595-2339599, 2342180-2342217, 2345602-2345634, 2347330-2347337, 2347407, 2347437-2347475, 2347529-2347540, 2347770-2347790, 2347795-2347796, 2347867-2347893, 2347903-2347922, 2348446-2348468, 2348515-2348541, 2349487-2349496, 2350006-2350037, 2350054-2350061, 2350148-2350149, 2354086, 2354091-2354095, 2354104-2354105, 2354108, 2354142-2354151, 2358598, 2367336, 2367741, 2367744-2367745, 2367750, 2367763-2367765, 2369600-2369605, 2369649-2369651, 2369655-2369658, 2373665, 2376274-2376275, 2376414-2376422
256MEFV160.975277067348685823463293888, 3294493-3294495, 3294503, 3296536, 3296539-3296547, 3297035, 3297073, 3299499, 3304517, 3306328-3306365, 3306393
257SLX4160.982016348773849955053632518-3632543, 3633283-3633287, 3633312-3633324, 3633455-3633463, 3639024, 3639638-3639641, 3640192, 3642722-3642728, 3642811, 3642814, 3642818-3642825, 3646175, 3646179, 3647569-3647574, 3647902-3647908, 3650991, 3651016-3651022
258CREBBP160.98690135079829673293777830-3777868, 3778050-3778053, 3778278-3778320, 3778902-3778903, 3778950-3778953, 3779412, 3779714-3779716
259GLIS2160.23428571428571120615754382304-4382321, 4382355-4382358, 4382367-4382375, 4382386-4382388, 4382403, 4382406-4382420, 4382447-4382453, 4383358-4383362, 4383368-4383379, 4383417, 4383424-4383439, 4383499-4383517, 4384802-4384848, 4384866-4384978, 4385061-4385071, 4385074, 4385093-4385163, 4385180, 4385187-4385194, 4385279-4385385, 4386726-4386797, 4386807-4386817, 4386820, 4386848-4386952, 4386959-4387491, 4387500, 4387512-4387525
260ALG1160.8630824372759919113955121883-5121900, 5127929-5127935, 5128799-5128800, 5128826-5128877, 5129065-5129090, 5130947-5130976, 5130996, 5131012-5131057, 5134751, 5134875-5134882
261ABAT160.99800399201597315038866655-8866657
262ABCC6160.80097517730496898451216253374-16253376, 16253397-16253423, 16255295-16255321, 16255373, 16255376, 16255407-16255408, 16256850-16256855, 16256863-16256875, 16256916-16256923, 16256929-16256942, 16256964-16256973, 16256981-16256989, 16256998-16257001, 16257009, 16257014-16257019, 16257028-16257049, 16259480-16259535, 16259570-16259655, 16259676-16259697, 16259702, 16259706, 16259731-16259742, 16259748-16259790, 16263503-16263710, 16267159-16267261, 16269775-16269784, 16269790, 16271325-16271335, 16271340, 16271375-16271423, 16271440-16271474, 16271483, 16272670, 16272673-16272685, 16272747-16272774, 16276300-16276304, 16276408-16276415, 16276706, 16278816-16278833, 16278882, 16284121-16284127, 16291946, 16315605-16315625
263UMOD160.999479979199171192320360362
264COG7160.9887591872027726231323403731-23403750, 23417414, 23417448-23417449, 23436163-23436165
265PALB2160.9960685200786314356123614802, 23635389-23635390, 23641021, 23647468-23647475, 23647631-23647632
266CLN3160.9901290812452513131728497673-28497675, 28499009, 28499035, 28499912-28499918, 28499936
267ATP2A1160.998669328010654300628900169-28900172
268CD19160.995212447636158167128950061-28950068
269PHKG2160.9320229320229383122130760142-30760158, 30760164-30760170, 30760203-30760236, 30764740, 30764743, 30764794-30764802, 30768362-30768375
270FUS160.996204933586346158131195269, 31195274, 31195279-31195281, 31195690
271SLC5A2160.997523526498275201931494541, 31500010-31500012, 31500318
272NOD2160.9923150816522624312350744829, 50745128-50745135, 50745386, 50745439, 50745496-50745502, 50745812, 50746056-50746060
273CYLD160.999650593990221286250785741
274SALL1160.9969811320754712397551175656-51175667
275SLC12A3160.94956353055286156309356899218-56899220, 56901015-56901045, 56912025-56912042, 56914079, 56918027, 56918030, 56920937-56920942, 56920949-56920951, 56921837-56921841, 56921848-56921896, 56921914-56921943, 56936396-56936399, 56938330-56938333
276CETP160.995276653171397148257012157-57012163
277GPR56160.998546511627913206457689342-57689344
278HSD11B2160.77750410509031271121867465152-67465338, 67465366-67465416, 67469871-67469872, 67470019-67470022, 67470200-67470215, 67470565-67470568, 67470834-67470838, 67470905-67470906
279LCAT160.84051398337113211132367973863-67973882, 67973925-67973966, 67974032-67974047, 67974109, 67974130, 67974259-67974262, 67976407-67976464, 67976660-67976669, 67976772, 67976780-67976798, 67976969-67977004, 67977007-67977009
280CDH3160.9578313253012105249068716256-68716259, 68716332, 68718493-68718494, 68718601-68718611, 68718683-68718701, 68718704, 68721450-68721455, 68721506-68721512, 68721590-68721599, 68725653-68725657, 68725686-68725688, 68725693-68725699, 68725703-68725705, 68725774-68725783, 68725787, 68725815-68725829
281CDH1160.9947149867874714264968771330-68771332, 68771346, 68771348-68771350, 68771353-68771354, 68845726-68845727, 68847341-68847343
282CIRH1A160.999514798641441206169167510
283COG8160.9717237629146352183969364784-69364785, 69364806, 69364809, 69373223-69373270
284AARS160.999656002751981290770302178
285GCSH160.975095785440611352281129775-81129783, 81129821-81129824
286MLYCD160.87719298245614182148283932862-83932883, 83932922-83932930, 83932976-83933040, 83933048-83933087, 83933093-83933135, 83941749, 83941815-83941816
287LRRC50160.9954086317722710217884199517-84199523, 84203553, 84209654, 84209660
288FOXF1160.985964912280716114086544215-86544221, 86544231-86544232, 86544275, 86546686-86546691
289FOXC2160.70916334661355438150686601002-86601038, 86601254-86601272, 86601325-86601338, 86601343, 86601391-86601414, 86601445, 86601505-86601507, 86601630-86601667, 86601679-86601718, 86601725-86601754, 86601779-86601823, 86601851-86601898, 86601912-86601925, 86601947-86601974, 86602153-86602203, 86602278-86602322
290JPH3160.72452158433467619224787636761, 87636845-87636855, 87637103-87637113, 87678144, 87678158-87678161, 87678174-87678178, 87678279-87678290, 87678354, 87678548-87678554, 87678626-87678632, 87717810, 87717813-87717827, 87717836-87717844, 87717869, 87723252-87723286, 87723298, 87723312-87723363, 87723369-87723410, 87723438-87723459, 87723467-87723510, 87723531-87723532, 87723541-87723559, 87723567, 87723570, 87723577-87723632, 87723656, 87723661-87723701, 87723730-87723760, 87723766-87723786, 87723821-87723832, 87723857-87723879, 87723908-87723938, 87723946-87724011, 87724017-87724030, 87724072-87724081, 87724095, 87724098-87724100, 87730250-87730251, 87730258, 87730262
291CYBA160.1071428571428652558888709761-88709924, 88709944-88709979, 88712524-88712537, 88712553-88712591, 88713163-88713246, 88713509-88713564, 88713570-88713583, 88714453-88714482, 88714493-88714522, 88717364-88717421
292APRT160.2394106813996341354388876106-88876160, 88876189-88876197, 88876219-88876248, 88876478-88876555, 88876837-88876939, 88877958-88877979, 88878000-88878019, 88878044-88878059, 88878228-88878307
293GALNS160.7080943275972458156988884415-88884435, 88884447-88884448, 88884461-88884487, 88884496-88884521, 88888997-88889035, 88889083-88889118, 88891181-88891187, 88891236-88891277, 88893114-88893161, 88893169-88893170, 88898479-88898480, 88901736-88901741, 88902183, 88902192-88902193, 88902661-88902675, 88907417-88907450, 88908314-88908349, 88909137-88909140, 88909212-88909213, 88923166-88923201, 88923216-88923285
294SPG7160.9840871021775538238889574826-89574829, 89576898, 89579365-89579368, 89616974-89616981, 89620226, 89620366-89620368, 89620904-89620911, 89620914, 89623323, 89623470-89623471, 89623477, 89623496-89623499
295FANCA160.96565934065934150436889807233-89807236, 89831340-89831361, 89833583-89833585, 89833641-89833645, 89836999-89837042, 89838086-89838103, 89838135-89838140, 89839763-89839766, 89842152-89842182, 89880931-89880934, 89882945-89882953
296TUBB3160.58462675535846562135389989810-89989813, 89989826, 89989829-89989831, 89989858-89989866, 89998979-89999006, 89999062-89999087, 89999879-89999886, 89999889-89999910, 89999954-89999963, 90001137-90001161, 90001171-90001177, 90001188-90001189, 90001211-90001219, 90001385, 90001415, 90001432-90001440, 90001443, 90001467-90001488, 90001523, 90001534-90001574, 90001596-90001636, 90001660-90001756, 90001795-90001796, 90001808-90001814, 90001842, 90001853-90001855, 90001860-90001863, 90001877-90001913, 90001945, 90001958-90002016, 90002032-90002043, 90002050-90002089, 90002131-90002133, 90002180-90002203, 90002212
297PRPF8170.99843036529681170081557129-1557132, 1557214-1557220
298CTNS170.7847049044056525912033552161-3552179, 3558353-3558354, 3559781-3559806, 3559819-3559848, 3559869-3559880, 3559980-3560010, 3560031-3560072, 3561299-3561327, 3561416, 3563152-3563169, 3563246-3563261, 3563938, 3563974-3563984, 3563991-3563992, 3563995, 3563999-3564006, 3564019-3564028
299CHRNE170.9230769230769211414824802186, 4802309-4802316, 4802363, 4802493-4802530, 4802605, 4802661-4802672, 4802763-4802789, 4804338-4804344, 4804424-4804425, 4804429-4804432, 4804473-4804485
300GP1BA170.98752419204837011-4837034
301AIPL1170.9991341991342111556330039
302PITPNM3170.8943589743589730929256358658-6358663, 6358689-6358721, 6358735-6358768, 6358785-6358804, 6358823-6358847, 6358869-6358871, 6367126-6367134, 6367500-6367508, 6367566-6367569, 6367573-6367579, 6373617-6373628, 6374481-6374495, 6374527-6374530, 6374534-6374536, 6374546-6374552, 6374666, 6375993-6375996, 6376064-6376073, 6377814, 6377893-6377900, 6377904-6377911, 6380445-6380447, 6381295-6381300, 6381318, 6381343, 6381346, 6381898, 6381969-6381995, 6382018, 6387035-6387057, 6459705-6459726
303ACADVL170.9969512195122619687125331, 7125371, 7125376, 7127710-7127711, 7127970
304CHRNB1170.99601593625498615067348482, 7348649, 7348699, 7357617, 7357621, 7357637
305GUCY2D170.984601449275365133127906376-7906390, 7906442-7906446, 7906479, 7906485-7906502, 7907171-7907182
306TNFRSF13B170.984126984126981488216843782-16843795
307FLCN170.91724137931034144174017118306, 17118309-17118311, 17118562-17118576, 17119708-17119709, 17119769-17119790, 17122522-17122523, 17124851-17124894, 17125866, 17125910-17125916, 17127278-17127281, 17127312-17127321, 17127345-17127349, 17127354, 17127431-17127433, 17129494, 17129583, 17129586-17129592, 17131219-17131220, 17131343-17131348, 17131358-17131360, 17131387-17131390
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380DNM2190.96019900497512104261310870422-10870425, 10893707-10893713, 10897292-10897309, 10897331-10897334, 10922949, 10922952-10922955, 10922958-10922969, 10922988-10922992, 10923007-10923034, 10935894-10935895, 10940924, 10941048, 10941654-10941669, 10941673
381LDLR190.94812233836624134258311216244-11216245, 11216250-11216254, 11216261, 11216265, 11217360, 11221414-11221427, 11222190-11222212, 11224022, 11224234-11224262, 11224302-11224305, 11226785-11226796, 11226800, 11227667-11227674, 11233956, 11233964, 11234014-11234020, 11238703-11238725
382LDLR190.9859649122807428511242098-11242101
383PRKCSH190.9936988027725310158711558341-11558346, 11558348-11558351
384MAN2B1190.96245059288538114303612758333, 12759027, 12759070-12759082, 12759097-12759128, 12766641, 12767850, 12767857, 12768263, 12768286-12768319, 12768344-12768348, 12768351, 12768363, 12768949-12768955, 12769277, 12769306-12769319
385CACNA1A190.95692062225768324752113318269-13318276, 13318310-13318352, 13318380-13318381, 13318391-13318416, 13318435, 13318496-13318505, 13318525-13318605, 13318638-13318717, 13318771-13318794, 13319692-13319697, 13409574-13409586, 13409883-13409892, 13414374-13414376, 13616994-13617010
386NOTCH3190.9816250358886128696615302340-15302348, 15302584, 15302771-15302778, 15302900-15302903, 15302960, 15302963, 15303004-15303018, 15311617-15311633, 15311645-15311716
387JAK3190.936216337517940954-17940972, 17940991-17941019, 17941358, 17941369, 17941382, 17942083-17942088, 17942101, 17942145-17942146, 17945460, 17950391, 17952469-17952471, 17953167, 17953255-17953257, 17953269-17953296, 17953317-17953322, 17953333, 17953909, 17953926-17953928, 17954189-17954209, 17954649-17954650, 17954653-17954656, 17954671-17954674, 17954707, 17955086, 17955108-17955155, 17955175-17955201
388SLC5A5190.93788819875776120193217983136-17983149, 17983221-17983225, 17983313-17983329, 17984947-17984975, 17985000-17985004, 17985303-17985313, 17985343, 17985523-17985540, 17986770-17986788, 17992793
389IL12RB1190.9612870789341477198918177457-18177469, 18191797-18191810, 18197570-18197606, 18197621-18197633
390COMP190.82805628847845391227418893761-18893766, 18895025, 18895092, 18896311, 18896495-18896540, 18896547-18896582, 18896838-18896851, 18896922-18896933, 18898309-18898332, 18898359, 18898445-18898448, 18899026-18899041, 18899065, 18899078, 18899088-18899094, 18899115-18899128, 18899219-18899225, 18899415-18899439, 18899450, 18899460, 18899467, 18899510, 18899525, 18899537-18899559, 18899648-18899663, 18899984-18899991, 18900007-18900030, 18900060-18900073, 18900101-18900106, 18900782-18900788, 18900834-18900859, 18900875-18900879, 18900905, 18900908-18900921, 18901659-18901678, 18901684, 18901689, 18902055-18902056, 18902077
391CEBPA190.81615598885794198107733792264, 33792482-33792490, 33792751-33792752, 33792755-33792757, 33792763-33792765, 33792797-33792798, 33792826-33792827, 33792852-33792884, 33792898-33792919, 33792930-33792948, 33792973-33792992, 33793008-33793010, 33793016-33793028, 33793147-33793150, 33793166-33793191, 33793231-33793251, 33793305-33793307, 33793309-33793320
392SCN1B190.969021065675342580735521725-35521748, 35521764
393MAG190.90377458798511181188135786312-35786314, 35786645-35786654, 35790472-35790503, 35790549, 35790552-35790554, 35790558, 35790569-35790573, 35790589-35790607, 35790631-35790635, 35790646-35790647, 35790691-35790708, 35790724-35790742, 35791063-35791092, 35791135, 35791139-35791140, 35791166-35791178, 35791182-35791195, 35802908-35802910
394SDHAF1190.956896551724141534836486177-36486191
395WDR62190.9790026246719296457236556883, 36573971, 36579981, 36580155-36580158, 36581372-36581374, 36582148, 36590473-36590476, 36594504-36594508, 36594698-36594699, 36595715-36595753, 36595781, 36595835-36595858, 36595896-36595905
396RYR1190.958721968644576241511738931409-38931439, 38931477-38931504, 38937164-38937185, 38937359, 38976652-38976668, 38981270-38981273, 38981310-38981311, 38987058-38987063, 38987074-38987075, 38987079, 38987107, 38987110, 38987149-38987151, 38987160, 38987500-38987532, 38996035, 39003055, 39003058, 39037100-39037106, 39037151-39037152, 39055611-39055622, 39055688-39055692, 39055702-39055719, 39055723-39055725, 39055740-39055765, 39055777, 39055796-39055847, 39055867-39056080, 39056093-39056100, 39056159-39056184, 39056215, 39056220-39056224, 39056232-39056234, 39056287-39056336, 39056385-39056400, 39061308, 39061319, 39061329, 39075613-39075619, 39075731-39075739
397ACTN4190.81140350877193516273639138434, 39138496-39138501, 39138504-39138523, 39207936-39207949, 39208567, 39208634-39208639, 39208692-39208694, 39212226, 39214314-39214335, 39214345-39214362, 39214592-39214598, 39214677-39214698, 39214797-39214815, 39214941-39214978, 39215071-39215091, 39215122-39215148, 39215154-39215170, 39216364-39216369, 39216373-39216379, 39216438, 39216443-39216447, 39216460-39216461, 39216464-39216489, 39216509-39216521, 39217692-39217701, 39218641, 39218644-39218645, 39218653, 39218656-39218657, 39219667-39219673, 39219734-39219794, 39219914-39219954, 39219969-39220056
398DLL3190.93376413570275123185739993511-39993517, 39993539-39993594, 39993604-39993617, 39993664, 39994740-39994741, 39994801, 39994811-39994826, 39994831, 39994872-39994883, 39996050-39996059, 39998528-39998530
399PRX190.9927040583675332438640903418-40903426, 40903841-40903843, 40904697, 40904701-40904702, 40909631-40909643, 40909736-40909739
400TGFB1190.89173060528559127117341838163-41838168, 41848094-41848108, 41854217-41854258, 41854265-41854284, 41854357-41854360, 41858873-41858876, 41858901-41858902, 41858910-41858912, 41858919-41858949
401BCKDHA190.9902840059790713133841929060-41929067, 41930506-41930510
402RPS19190.961187214611871743842364872-42364888
403ATP1A3190.95187601957586177367842470752-42470770, 42470798-42470806, 42470866-42470881, 42470884-42470886, 42470927, 42470934-42470935, 42470940, 42470943-42470998, 42471010, 42471015-42471020, 42471062-42471078, 42471322-42471328, 42471352-42471362, 42479820, 42480568-42480578, 42480602-42480615, 42489239, 42489242
404ETHE1190.973856209150332076544012098-44012110, 44012958-44012964
405BCAM190.9682034976152660188745312382-45312392, 45312407-45312429, 45312439-45312441, 45312446-45312453, 45323962-45323968, 45324044-45324051
406ERCC2190.91590013140604192228345867083-45867111, 45867149, 45867162-45867163, 45867169, 45867259, 45867294-45867296, 45867299, 45867304-45867312, 45867341, 45867351-45867356, 45867371-45867376, 45867493-45867509, 45867568-45867589, 45867682-45867711, 45868096-45868120, 45871958, 45873435-45873471
407SIX5190.87477477477477278222046268820-46268826, 46268878-46268902, 46268919-46268938, 46268960, 46268966, 46268975-46268977, 46268990, 46268994, 46268997, 46269106, 46269109, 46269116, 46269120, 46269171-46269198, 46269225-46269231, 46269241, 46269245, 46269308-46269313, 46269725-46269737, 46269751-46269764, 46269780, 46269876-46269877, 46270007-46270013, 46270018-46270029, 46270080, 46270153-46270154, 46270157, 46270177-46270194, 46270372, 46271333-46271334, 46271338, 46271576-46271584, 46271694-46271695, 46271810, 46271814, 46271822-46271827, 46271831-46271832, 46271837, 46271880-46271903, 46271938-46271970, 46271984, 46272055-46272065, 46272073, 46272077-46272080
408DMPK190.9047619047619180189046274268-46274271, 46274288, 46278234-46278236, 46280702-46280704, 46280835-46280836, 46280983-46280993, 46281443-46281453, 46281477, 46281758-46281778, 46281871-46281872, 46281885-46281899, 46282542, 46283044, 46283079-46283100, 46283126-46283127, 46285531-46285610
409FKRP190.88104838709677177148847258789-47258794, 47259282, 47259288-47259295, 47259390-47259411, 47259438-47259444, 47259487-47259532, 47259619-47259657, 47259664-47259703, 47260136-47260143
410DBP190.4458077709611554297849134094-49134110, 49134129, 49134134-49134144, 49134154-49134157, 49134188-49134209, 49136737-49136753, 49136784, 49136806, 49136810-49136821, 49136890-49136895, 49138837-49138931, 49138942-49138961, 49138964-49138980, 49138988-49139045, 49139052-49139247, 49140162-49140181, 49140185, 49140193-49140223, 49140240-49140251
411BCAT2190.9584393553859249117949303074-49303076, 49303514-49303554, 49309860-49309864
412GYS1190.93947606142728134221449473881, 49494581-49494600, 49494613-49494619, 49494636-49494660, 49494675, 49494680-49494688, 49494710-49494740, 49496285-49496295, 49496319-49496345, 49496367-49496368
413MED25190.9630124777183683224450321621-50321623, 50321697, 50321843-50321851, 50333777-50333784, 50333825-50333838, 50334668, 50335402-50335414, 50338834, 50338837, 50339538-50339557, 50339652-50339663
414PNKP190.999361430395911156650370412
415MYH14190.98265423007691106611150728852-50728866, 50728894-50728898, 50752961-50752964, 50752989-50753002, 50753943-50753945, 50764762-50764771, 50764803-50764823, 50764870-50764892, 50766657-50766664, 50795630-50795632
416KCNC3190.89929639401935229227450823591, 50826242-50826245, 50826294-50826297, 50826354-50826356, 50831946-50831951, 50831967-50832006, 50832098-50832101, 50832130-50832131, 50832148, 50832152, 50832167-50832170, 50832181-50832339
417ETFB190.998078770413062104151857803-51857804
418NLRP12190.9839924670433151318654299256-54299269, 54304634-54304644, 54313037-54313041, 54313669, 54313851-54313869, 54314424
419PRKCG190.9613180515759381209454392956-54392990, 54401315-54401320, 54401326, 54401764, 54401794-54401796, 54401845-54401848, 54401851, 54409976-54409978, 54410037, 54410063-54410088
420PRPF31190.47933333333333781150054621676-54621752, 54621765-54621767, 54621953-54621974, 54625239-54625254, 54625880, 54625883-54625884, 54625915-54625924, 54626843, 54626909-54626917, 54627128-54627160, 54627182, 54627259-54627297, 54627878-54627909, 54627928-54627974, 54627988-54628020, 54629923-54629948, 54629956-54629992, 54631448-54631455, 54631492-54631525, 54631538-54631575, 54631689-54631752, 54632432-54632516, 54632533-54632560, 54632647-54632735, 54634744-54634745, 54634814-54634857
421TSEN34190.9957127545552493354695369-54695372
422TNNT1190.7591888466413219078955644285-55644302, 55644309-55644322, 55644325, 55645255-55645261, 55645266-55645267, 55645275-55645295, 55645434-55645452, 55648475, 55648478, 55648499-55648531, 55649335, 55652251-55652294, 55652314-55652316, 55652326-55652328, 55652633, 55652636-55652638, 55652670, 55658059-55658075
423TNNI3190.919540229885064960955665398-55665414, 55665479-55665503, 55666184-55666188, 55667688-55667689
424TPO20.9050678087080726628021459870-1459876, 1497614-1497616, 1497708-1497714, 1499765-1499775, 1499920-1499929, 1520655-1520754, 1544366-1544381, 1544391-1544436, 1544449-1544495, 1546194-1546209, 1546216, 1546224-1546225
425KLF1120.9759584145549137153910183844, 10183850-10183885
426APOB20.9991966111598111369221233036, 21266775-21266783, 21266791
427POMC20.99751243781095280425384429, 25384432
428HADHA20.9864746945898831229226414415-26414441, 26437328, 26437950-26437952
429OTOF20.826659993326661039599426689698-26689700, 26695405-26695410, 26695474-26695479, 26696338-26696345, 26696417, 26696873-26696879, 26696893-26696898, 26696907-26696934, 26697396-26697442, 26697448, 26697451-26697454, 26697460-26697481, 26697488-26697491, 26697502-26697515, 26698227-26698247, 26698312-26698358, 26698784-26698786, 26698843-26698846, 26698996-26699000, 26699008-26699046, 26699104-26699111, 26699119-26699173, 26699759-26699829, 26699849-26699911, 26700043-26700055, 26700101-26700134, 26700284-26700308, 26700334-26700374, 26700522, 26700526-26700558, 26702132-26702151, 26702165-26702203, 26702214-26702252, 26702348-26702353, 26702425-26702437, 26702486-26702519, 26703071-26703095, 26703120-26703127, 26703163-26703165, 26703691-26703697, 26703798-26703842, 26703851-26703877, 26705274-26705299, 26705310, 26705313-26705328, 26705337, 26705369-26705374, 26705381, 26705396-26705404, 26705434-26705460, 26706400-26706407, 26707362-26707366, 26707376-26707392, 26707484-26707496, 26712548-26712569, 26741887
430EIF2B420.999387254901961163227592299
431ALK20.999177462471734486329430051, 29462596-29462598
432SPAST20.99675850891416185132289063, 32289315, 32340831-32340834
433CYP1B120.9920343137254913163238302002-38302007, 38302229-38302232, 38302413-38302415
434SOS120.9902548725637239400239224552-39224566, 39250002-39250008, 39251185, 39251190-39251195, 39285896-39285897, 39294825-39294826, 39347520-39347525
435ABCG520.991820040899816195644049953-44049954, 44055137-44055150
436ABCG820.78684470820969431202244078845, 44079588-44079590, 44079896-44079902, 44099115-44099147, 44099210-44099272, 44099362-44099395, 44099401-44099437, 44100962-44100982, 44100994, 44101000-44101005, 44101011-44101035, 44101077, 44101089-44101097, 44101109, 44101552, 44101569-44101615, 44102306-44102423, 44102467-44102488, 44102491
437EPCAM20.980952380952381894547596692-47596697, 47601121-47601125, 47601137-47601143
438MSH620.96938525593926125408348010441-48010450, 48010459-48010511, 48010530-48010558, 48010600-48010632
439EFEMP120.998650472334682148256102087, 56102101
440ATP6V1B120.9883268482490318154271163086-71163098, 71192146-71192150
441DYSF20.9847484276729697636071797785-71797790, 71801328-71801337, 71801344-71801345, 71825737-71825739, 71825865-71825875, 71827938, 71829919-71829922, 71838441, 71838699-71838700, 71838754, 71839792-71839793, 71839890-71839892, 71840509-71840540, 71847704-71847721, 71847736
442SPR20.930025445292625578673114606-73114607, 73114614, 73114624-73114632, 73114635, 73114700-73114723, 73114791-73114801, 73114836-73114839, 73114852, 73115592, 73118606
443ALMS120.99864043506078171250473613032-73613034, 73676917-73676918, 73676927-73676933, 73679701, 73747020-73747022, 73828342
444MOGS20.992044550517120251474689004-74689011, 74689700-74689704, 74689777-74689780, 74692326, 74692329-74692330
445GGCX20.996047430830049227785788514-85788522
446EIF2AK320.9949268874962717335188926730-88926746
447TMEM12720.99721059972106271796931050-96931051
448ZAP7020.9946236559139810186098340606, 98349373, 98349376-98349380, 98349801-98349803
449RANBP220.903772609819129319675109345588, 109347317-109347341, 109352142, 109352188, 109352566, 109356945-109356957, 109357110-109357126, 109365376-109365394, 109367726-109367775, 109367841-109367875, 109368035, 109368074-109368111, 109368406-109368440, 109369454-109369488, 109369543-109369561, 109369945, 109370387-109370416, 109371385-109371391, 109371509, 109374869-109374875, 109374952, 109378557-109378568, 109378581, 109378618, 109382611-109382641, 109382665-109382706, 109382750-109382793, 109383079-109383114, 109383137-109383148, 109383181-109383210, 109383229, 109383249-109383289, 109383295-109383321, 109383354-109383360, 109383635-109383682, 109383769-109383798, 109383822-109383836, 109383864-109383891, 109383980-109384013, 109384393-109384438, 109384505-109384531, 109384561-109384567, 109384597-109384634, 109384661-109384684, 109397842-109397846, 109397850-109397854, 109398814
450MERTK20.9983333333333353000112656369-112656373
451GLI220.976265490443181134761121708853-121708859, 121708956, 121708961-121708967, 121708990-121709021, 121729539-121729554, 121729637, 121746184, 121746202, 121746226-121746227, 121746231, 121746293, 121746328, 121746500-121746513, 121746603, 121746818, 121747076-121747084, 121747104-121747105, 121747204-121747210, 121747350-121747352, 121747405-121747407, 121747550, 121747658
452BIN120.99663299663361782127808442-127808445, 127864436-127864437
453PROC20.98773448773449171386128180670, 128180673-128180683, 128180728-128180731, 128183780
454CFC120.625252672131279058-131279080, 131279386, 131279407, 131279530-131279549, 131279620-131279629, 131280363-131280404, 131280421-131280477, 131280742-131280744, 131280774-131280840, 131285283-131285285, 131285310-131285332, 131285403, 131285410
455RAB3GAP120.99524779361847142946135888189, 135888260, 135888280-135888291
456LCT20.9998271092669415784136558330
457MCM620.9987834549878332466136626227-136626229
458ZEB220.999725651577513645145153988
459MMADHC20.995510662177334891150426492-150426495
460NEB20.998247722038653519974152404041-152404047, 152432738-152432760, 152432839-152432842, 152500449
461SCN2A20.99567962778332266018166237619, 166237623-166237647
462GALNT320.98685594111462251902166615257-166615264, 166627173-166627189
463SCN1A20.9994997498749435997166895933-166895934, 166908241
464SCN9A20.9998314796090315934167133691
465SLC25A1220.9970544918998562037172690500-172690505
466CHRNA120.9992721979621511374175618253
467CHN120.9992753623188411380175664924
468HOXD1320.96802325581395331032176957664-176957692, 176958057-176958060
469PRKRA20.998938428874731942179301032
470DFNB5920.96978281397545321059179319062-179319093
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473MSTN20.99024822695035111128190922053, 190927024-190927028, 190927038, 190927131-190927133, 190927141
474HSPD120.9976771196283441722198352712-198352714, 198353175
475CASP1020.998725302740621569202050774-202050775
476CASP820.9993815708101411617202149622
477BMPR220.9996791786974713117203378478
478NDUFS120.99542124542125102184206992588-206992589, 207018366-207018373
479ACADL20.9961330239752551293211069325, 211085386, 211085389-211085391
480ABCA1220.9998715973292217788215854089
481PNKD20.9991364421416211158219204552
482BCS1L20.996825396825441260219527338-219527341
483WNT10A20.9960127591706551254219745805-219745807, 219757607-219757608
484OBSL120.9840098400984915691220416275-220416300, 220416842, 220417401, 220417660-220417663, 220435661-220435674, 220435736-220435764, 220435849, 220435899-220435904, 220435946-220435954
485COL4A420.9996050552922625064227967906, 227967909
486SLC19A320.9993293091884611491228563536
487CHRND20.99163449163449131554233390949, 233390952-233390954, 233394657-233394661, 233398749-233398752
488CHRNG20.98841698841699181554233409543-233409560
489COL6A320.99748269351794249534238244864-238244866, 238244897, 238303485-238303503, 238303821
490AGXT20.879558948261241421179241808302-241808340, 241808364-241808374, 241808399, 241808592-241808615, 241808626-241808666, 241808678-241808684, 241810064, 241810766-241810780, 241816976-241816978
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492AVP200.81010101010101944953063389-3063435, 3063629-3063647, 3063683-3063698, 3063773-3063784
493PANK2200.981319322825453217133869796-3869799, 3870012, 3870171, 3870174-3870179, 3870244-3870253, 3870259-3870267, 3870298
494THBD200.998263888888893172823029384-23029385, 23029988
495SNTA1200.83333333333333253151832000381-32000415, 32031163-32031264, 32031305-32031420
496SAMHD1200.9914938862307316188135545393-35545400, 35547879-35547886
497HNF4A200.948070175438674142543052747-43052748, 43052787-43052799, 43052811-43052825, 43052834-43052872, 43052882-43052885, 43052889
498ADA200.9798534798534822109243255121, 43255124, 43255151-43255158, 43255199-43255200, 43280216-43280220, 43280224-43280228
499CTSA200.995991983967946149744520238-44520243
500SALL4200.9943074003795118316250407162, 50407365, 50408229, 50408343-50408357
501PCK1200.997859818084544186956137760-56137763
502STX16200.99897750511247197857246310
503GNAS200.952574525745263573857415180-57415201, 57415583-57415589, 57415876-57415881
504GNAS200.90558766859345294311457428468-57428498, 57428508, 57428954-57428955, 57428969, 57428980-57428983, 57429073-57429096, 57429135-57429140, 57429182-57429184, 57429187-57429240, 57429339-57429345, 57429414-57429458, 57429479-57429489, 57429500, 57429568-57429574, 57429625-57429627, 57429643-57429647, 57429654-57429671, 57429679, 57429699, 57429748-57429760, 57429795, 57429985-57430013, 57430076-57430078, 57430104-57430113, 57430166, 57430249-57430260
505COL9A3200.75961070559611494205561448417-61448494, 61448919-61448976, 61448986-61448987, 61449881, 61449888-61449895, 61451281-61451294, 61452533-61452542, 61452859-61452880, 61453162, 61453482-61453516, 61453943-61453957, 61453967-61453984, 61455821-61455839, 61456320-61456373, 61457177-61457188, 61457556-61457593, 61457608-61457609, 61458119-61458127, 61458141-61458172, 61459275-61459278, 61460124, 61460275, 61461000, 61461747-61461749, 61461869-61461917, 61463522-61463526, 61463537, 61468604
506CHRNA4200.10721868365181682188461978090-61978215, 61981005-61981163, 61981174-61981492, 61981500-61981722, 61981728-61981791, 61981793, 61981805-61981826, 61981864-61981952, 61981959-61981986, 61981996, 61982014-61982016, 61982018-61982043, 61982052-61982105, 61982115-61982166, 61982182-61982187, 61982191-61982250, 61982253, 61982292-61982334, 61982358-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
507KCNQ2200.171439480717832170261962037997-62038192, 62038212-62038363, 62038373-62038431, 62038451-62038491, 62038506-62038728, 62039766-62039821, 62039842-62039889, 62044811-62044860, 62044866-62044934, 62045441-62045465, 62045495, 62045504-62045515, 62045537, 62045542, 62046257-62046258, 62046263-62046265, 62046268-62046284, 62046297-62046385, 62046419-62046479, 62050987-62051025, 62059720-62059748, 62059755-62059764, 62059773-62059788, 62062693, 62065162-62065195, 62065202-62065215, 62065236, 62065239-62065250, 62065255, 62069978-62070010, 62070020-62070046, 62070951-62071020, 62071028-62071061, 62073759-62073867, 62076012-62076148, 62076154-62076187, 62076591-62076695, 62078100-62078116, 62078123-62078166, 62078185, 62103521-62103816
508SOX18200.20692640692641916115562679519, 62679525, 62679538-62679598, 62679621-62679628, 62679632-62679640, 62679647, 62679679-62679694, 62679717, 62679721-62679722, 62679735-62679774, 62679794-62679830, 62679836-62679858, 62679874-62679884, 62679894, 62679900-62679903, 62679907, 62679922-62679936, 62679945-62679951, 62679961, 62679967-62680007, 62680019-62680285, 62680306-62680315, 62680512-62680869
509APP210.999567661046261231327542913
510IFNGR2210.87376725838264128101434775850-34775922, 34793838-34793849, 34793852-34793853, 34793885-34793907, 34793910, 34793915, 34793928, 34809213-34809227
511RCAN1210.967061923583662575935987199, 35987287-35987310
512CLDN14210.953672037833300-37833306, 37833532-37833560
513TMPRSS3210.9860805860805919136543803167, 43805518-43805534, 43810084
514CBS210.9583333333333369165644479059-44479064, 44480559-44480573, 44492119-44492164, 44492271, 44492277
515AIRE210.182539682539681339163845705890-45705896, 45705902-45705942, 45705955-45706007, 45706446-45706614, 45706865-45706896, 45706901-45706912, 45706919-45706922, 45706943-45707016, 45707437-45707474, 45708228-45708281, 45708304-45708329, 45709545-45709659, 45709684-45709685, 45709871-45709915, 45709933-45709951, 45710978-45711093, 45712185-45712219, 45712229, 45712241-45712258, 45712277-45712284, 45712876-45712892, 45712900-45712969, 45712977, 45712983-45712984, 45712990-45713013, 45713035, 45713040-45713058, 45713687-45713793, 45714284-45714358, 45714368-45714386, 45716266-45716328, 45717539-45717610
516ITGB2210.9593073593073694231046308624-46308641, 46308651-46308661, 46308673, 46308679-46308694, 46308739-46308745, 46308802-46308810, 46309191-46309196, 46311886-46311911
517COL18A1210.395821462488133181526546875445-46875456, 46875480-46875482, 46875493, 46875509-46875515, 46875530, 46875648, 46875694-46875707, 46875732-46875754, 46875763, 46875772-46875777, 46875781-46875804, 46875824-46875839, 46875873, 46875876, 46875879, 46875883, 46875909-46875931, 46875974-46876017, 46876042-46876062, 46876099-46876100, 46876104-46876114, 46876134, 46876142-46876146, 46876165-46876202, 46876234-46876266, 46876285-46876292, 46876321, 46876380, 46876404, 46876410-46876415, 46876473, 46876505-46876581, 46876595-46876691, 46876701-46876716, 46876760, 46876775, 46876788-46876795, 46888156-46888209, 46888220-46888266, 46888284-46888285, 46888303-46888358, 46888371-46888420, 46888510-46888540, 46888579-46888615, 46888628, 46888642-46888644, 46888682-46888691, 46888695-46888698, 46893821, 46893853-46893856, 46893868-46893873, 46893876, 46893883-46893895, 46895424-46895433, 46896265-46896308, 46896325-46896359, 46896367-46896387, 46897325-46897327, 46897359, 46897774-46897807, 46899816, 46899834-46899878, 46899996-46900020, 46900026-46900064, 46900381-46900396, 46900424-46900434, 46900654, 46900667, 46900670-46900674, 46900725, 46900730-46900731, 46901877-46901888, 46906775-46906801, 46906814-46906896, 46907361-46907417, 46908332-46908357, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912461, 46912601-46912627, 46913077-46913098, 46913105-46913111, 46913119-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924340, 46924354-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929270-46929271, 46929279, 46929290, 46929301-46929445, 46929467, 46929470-46929484, 46929498-46929505, 46929978-46930094, 46930101-46930159, 46930170-46930175, 46931025-46931065, 46931074, 46931078, 46931099, 46931106, 46931122-46931140, 46932111-46932124, 46932133-46932196, 46932199-46932226, 46932263-46932298, 46932305-46932312
518COL6A1210.617427923550371181308747401765-47401861, 47402548-47402677, 47404183-47404312, 47404322-47404383, 47406440-47406557, 47406576-47406599, 47406858-47406936, 47406958-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407558, 47407564-47407568, 47408998-47409021, 47409033-47409041, 47409047, 47409522-47409550, 47409560-47409566, 47409666-47409690, 47410172-47410198, 47410292-47410298, 47410309-47410336, 47410711-47410721, 47410727-47410728, 47410731-47410734, 47410907-47410946, 47411924-47411938, 47411970-47411986, 47412090, 47412094-47412097, 47414081-47414097, 47414125-47414137, 47417348, 47417395-47417397, 47417630-47417655, 47418035-47418040, 47418077-47418085, 47418312-47418313, 47418843-47418852, 47418856, 47419070-47419095, 47419128-47419131, 47419574, 47419597, 47419602, 47420262-47420270, 47420674-47420675, 47422532-47422556, 47423467-47423473, 47423503-47423511, 47423526, 47423565-47423567, 47423649-47423650
519COL6A2210.453594771241831672306047531398-47531505, 47531922-47531961, 47531971, 47531977-47531978, 47531982-47531985, 47532007-47532031, 47532199, 47532265-47532289, 47532328-47532344, 47532385, 47532440, 47532452-47532464, 47532722, 47533922, 47533951-47533952, 47535824-47535829, 47535835-47535838, 47535923-47535939, 47536296-47536303, 47536309-47536317, 47536565-47536588, 47536685, 47536688-47536708, 47537317-47537344, 47537791, 47537807-47537822, 47538528-47538547, 47538559-47538590, 47538944-47538945, 47538952-47539033, 47539702-47539764, 47540429-47540448, 47540455-47540491, 47540975-47541037, 47541470-47541532, 47542024-47542072, 47542410, 47542436, 47542439, 47542443-47542445, 47542812-47542851, 47544565-47544592, 47544595, 47544604, 47544607-47544609, 47544815-47544822, 47545180-47545211, 47545219-47545225, 47545379-47545386, 47545396, 47545434-47545453, 47545493, 47545699-47545736, 47545743-47545761, 47545768-47545769, 47545799, 47545823-47545846, 47545859, 47545877, 47545888-47545939, 47545953-47545962, 47545969-47545975, 47545977-47545987, 47545993-47546006, 47546033, 47546066-47546081, 47546087, 47546099-47546149, 47546424, 47546439-47546445, 47551868-47551923, 47551934-47551940, 47551979-47551985, 47551994, 47551998-47552090, 47552111-47552153, 47552174-47552200, 47552206-47552209, 47552229, 47552245-47552420, 47552431-47552466
520COL6A2210.2397660818713526034247552183-47552200, 47552206-47552209, 47552229, 47552245-47552420, 47552431-47552487, 47552501, 47552522-47552524
521FTCD210.061500615006151526162647556901-47556940, 47556955-47556982, 47557167-47557203, 47557216-47557219, 47557226-47557248, 47558422-47558535, 47558542-47558560, 47558798-47558820, 47558835-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570356, 47570366-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574070-47574246, 47575384-47575385, 47575395-47575437
522PCNT210.986115273199481391001147787038-47787041, 47801678-47801687, 47801724, 47831444, 47831447-47831455, 47847654, 47847658, 47847664-47847667, 47847700, 47848309-47848333, 47848422, 47848426, 47848440-47848443, 47848491-47848502, 47850488, 47851726, 47851949-47851976, 47852110-47852112, 47855985-47855992, 47858094-47858096, 47863829-47863848
523PRODH220.76650027731559421180318900745-18900765, 18900793, 18900834-18900843, 18900848-18900851, 18904414, 18905934, 18905989-18905990, 18907290, 18908872-18908878, 18908899-18908927, 18909869-18909871, 18910352-18910355, 18910397, 18910443-18910446, 18910628-18910653, 18912579-18912611, 18912641, 18913208, 18918515, 18918652-18918673, 18918694, 18918697-18918702, 18923528-18923603, 18923619-18923719, 18923732-18923751, 18923753-18923756, 18923761-18923800
524GP1BB220.01127214170692461462119711093-19711102, 19711377-19711924, 19711932-19711987
525TBX1220.59543010752688602148819747167-19747178, 19748428-19748599, 19748611-19748612, 19748617-19748624, 19748636-19748642, 19748645-19748695, 19750800, 19753281-19753297, 19753326-19753333, 19753444, 19753449-19753471, 19753491-19753522, 19753912-19754049, 19754069-19754074, 19754091, 19754109-19754132, 19754188-19754196, 19754221-19754241, 19754251-19754278, 19754290-19754329, 19754390
526SMARCB1220.941278065630468115824129432-24129438, 24145551-24145558, 24175778-24175780, 24175820-24175869
527CHEK2220.93639977285633112176129083885-29083916, 29083933-29083965, 29085165-29085171, 29090029-29090057, 29091173-29091179, 29091808, 29126436, 29126452, 29126461
528NF2220.9932885906040312178830000007, 30000015-30000018, 30000068-30000074
529TCN2220.999221183800621128431011438
530MYH9220.9942206357300734588336691683-36691689, 36696909, 36696912-36696919, 36696922, 36697580-36697581, 36697672-36697683, 36700051-36700053
531TRIOBP220.92983939137785498709838111916, 38119866-38119905, 38120013-38120052, 38120150-38120185, 38120297-38120346, 38120444-38120450, 38120549-38120576, 38120830-38120854, 38121608-38121617, 38121844, 38121847, 38121851, 38122039, 38122105-38122106, 38122414-38122421, 38122444-38122448, 38122453-38122455, 38122475-38122490, 38122499, 38122502-38122504, 38129305-38129309, 38129341-38129362, 38129367, 38129383-38129385, 38129388-38129389, 38129414-38129419, 38130454-38130455, 38130472, 38130626-38130632, 38130641, 38130649, 38130671-38130677, 38130860, 38130867-38130872, 38130876, 38130879-38130880, 38130884, 38130909-38130917, 38130939-38130977, 38131025-38131067, 38131091-38131100, 38131238-38131240, 38131330-38131357, 38153922-38153934, 38161728, 38161774-38161777
532SOX10220.997858672376873140138379391, 38379454, 38379458
533PLA2G6220.03067484662576747448938508274-38508312, 38508511-38508584, 38509494-38509743, 38509759-38509869
534PLA2G6220.530772408095831136242138508168-38508190, 38508204-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511654, 38511664-38511688, 38512082-38512093, 38512104-38512218, 38516774-38516777, 38516784-38516788, 38516821-38516916, 38519102-38519265, 38522391-38522402, 38522406-38522416, 38522454-38522456, 38524312-38524314, 38524332, 38524350-38524371, 38524396-38524437, 38525494-38525535, 38525564-38525565, 38528838-38528843, 38528869-38528873, 38528900-38528915, 38528930-38528953, 38529004, 38531011-38531024, 38536049-38536064
535ADSL220.9835051546391824145540745931-40745937, 40757329-40757339, 40757604-40757608, 40761060
536TNFRSF13C220.1729729729729745955542321381-42321406, 42321412-42321444, 42321464-42321494, 42321520-42321529, 42322105-42322335, 42322642-42322654, 42322663-42322777
537CYB5R3220.973509933774832490643027410-43027421, 43045307-43045318
538ATXN10220.996498599439785142846068042-46068046
539TRMU220.9383886255924278126646731693-46731733, 46746284, 46751368-46751378, 46752743, 46752746-46752747, 46752848-46752869
540ALG12220.82344921608725259146750297618, 50297623, 50301469, 50301481, 50301510-50301516, 50301576-50301579, 50303549-50303554, 50303558-50303561, 50303569, 50303572, 50303620, 50303624-50303625, 50303698-50303736, 50304085, 50304090-50304095, 50304109, 50304122-50304123, 50304169-50304216, 50304246-50304253, 50307040-50307070, 50307143, 50307252-50307256, 50307274-50307313, 50307332, 50307363-50307408
541MLC1220.9285714285714381113450502469-50502506, 50502548, 50502593-50502595, 50506922, 50508956-50508984, 50512683-50512685, 50512688-50512691, 50512742-50512743
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768LHX390.703060380479743591209139089218, 139089269-139089301, 139089312-139089376, 139089466, 139089537-139089543, 139089556-139089557, 139089560-139089561, 139089579, 139089582, 139090605-139090634, 139090646-139090666, 139090783, 139090786-139090812, 139090830-139090905, 139091619-139091640, 139091646, 139094805, 139094809-139094870, 139094875-139094879
769INPP5E90.3891472868217111821935139324732, 139325468, 139325509-139325517, 139325521, 139325545, 139325568-139325569, 139326276-139326335, 139326343-139326413, 139326430-139326437, 139326931-139326942, 139326955-139326961, 139326988-139326990, 139326995-139327005, 139327034, 139327037-139327038, 139327408-139327419, 139327436-139327439, 139327443-139327446, 139327469, 139327493-139327527, 139327607-139327731, 139328489-139328501, 139328508-139328510, 139328513-139328545, 139329219-139329236, 139329264-139329279, 139329287-139329315, 139333060-139333078, 139333114-139333273, 139333283-139333400, 139333406-139333484, 139333491-139333564, 139333574-139333728, 139333741, 139333751-139333786, 139333815-139333871
770NOTCH190.1272822117892566927668139390523-139390555, 139390571-139390592, 139390599, 139390606, 139390617-139390665, 139390673-139390693, 139390707-139390749, 139390769-139391116, 139391123-139391192, 139391203-139391301, 139391310-139391412, 139391425-139391660, 139391668-139391891, 139391898-139391927, 139391944-139392010, 139393351-139393386, 139393394, 139393412-139393448, 139393564-139393569, 139393593-139393609, 139393627-139393632, 139393635, 139393660, 139393666-139393670, 139395004-139395148, 139395157-139395299, 139396200-139396202, 139396212-139396240, 139396261-139396365, 139396453-139396498, 139396530-139396540, 139396724-139396743, 139396769, 139396774-139396810, 139396825-139396849, 139396859-139396895, 139396902-139396940, 139397634-139397691, 139397699-139397782, 139399125-139399135, 139399144-139399330, 139399344-139399409, 139399423-139399535, 139399545-139399556, 139399762-139399763, 139399775-139399918, 139399950-139399975, 139399992-139400040, 139400052-139400077, 139400087-139400104, 139400124-139400333, 139400979-139400989, 139400997-139401091, 139401168-139401191, 139401204-139401293, 139401303-139401376, 139401394-139401425, 139401757-139401792, 139401805-139401860, 139401877, 139401883-139401889, 139402407-139402414, 139402442, 139402448-139402526, 139402535-139402556, 139402566-139402569, 139402684-139402771, 139402800-139402837, 139403322-139403523, 139404185-139404187, 139404244-139404252, 139404255-139404257, 139404263-139404264, 139404298-139404339, 139404352-139404413, 139405105-139405186, 139405195-139405257, 139405604-139405657, 139405676-139405723, 139407473-139407554, 139407560-139407584, 139407844-139407980, 139407988-139407989, 139408962-139408991, 139408999-139409042, 139409052-139409154, 139409743-139409831, 139409935-139410063, 139410075, 139410087-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412238, 139412246-139412343, 139412355-139412382, 139412387-139412389, 139412589-139412744, 139413043-139413276, 139413895-139413951, 139413961-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438531, 139438542-139438554, 139440178-139440238
771AGPAT290.21983273596177653837139568211-139568288, 139568299-139568304, 139568307-139568309, 139568349-139568379, 139569187-139569238, 139569244-139569259, 139571037-139571052, 139571061-139571097, 139571105-139571131, 139571447-139571465, 139571480-139571530, 139571539-139571574, 139571583-139571584, 139571587-139571588, 139571891-139571932, 139571956-139572008, 139581628-139581809
772SLC34A390.3112421800140126169-140126199, 140126229, 140126536-140126542, 140126545-140126556, 140126574, 140126598, 140126601, 140127046-140127059, 140127081-140127083, 140127086-140127093, 140127134-140127149, 140127236-140127246, 140127275-140127277, 140127311-140127355, 140127456-140127474, 140127525-140127545, 140127549, 140127676-140127730, 140127739-140127813, 140127829-140127856, 140128085-140128129, 140128146, 140128156-140128174, 140128315-140128393, 140128561-140128650, 140128674-140128678, 140128690-140128728, 140128868-140128904, 140128912-140128984, 140129110-140129172, 140130404-140130628, 140130645-140130844, 140130856-140130868
773EHMT190.791121375416998143897140513481-140513501, 140605419-140605428, 140605435-140605482, 140611078-140611634, 140622832-140622841, 140622909-140622954, 140638499, 140669640-140669646, 140669681-140669693, 140671260-140671282, 140672346, 140672349-140672361, 140672373, 140672478, 140672495, 140674123, 140674127, 140695371-140695372, 140708910, 140728801-140728806, 140728921-140728922, 140728948-140728976, 140729285-140729290, 140729349, 140729356, 140729386-140729391, 140729399-140729403
774SHOXX0.50056882821388439879591633-591908, 595353-595379, 595385-595410, 595424-595486, 595496-595518, 595537-595560
775CSF2RAX0.6352490421455947613051401642-1401643, 1401646-1401672, 1404694-1404695, 1404701-1404717, 1404722-1404727, 1404766, 1404780-1404790, 1407529, 1407703-1407748, 1409231-1409232, 1409242, 1409249, 1409317-1409341, 1409390, 1413234-1413260, 1413272-1413294, 1413309, 1413312-1413354, 1414320-1414325, 1414348-1414349, 1419384-1419400, 1419411, 1419419-1419422, 1419426, 1419432-1419435, 1419439, 1419451-1419453, 1419479-1419519, 1422157-1422202, 1422208-1422209, 1422216-1422255, 1422816-1422854, 1422877, 1422889, 1422904-1422912, 1424406, 1424413, 1428302-1428308, 1428361-1428372
776FANCBX0.999612403100781258014882956
777PHKA2X0.998921251348444370818912491-18912493, 18915287
778SMSX0.9554950045413349110121958943-21958991
779ARXX0.9798697454114934168925031534-25031539, 25031652-25031672, 25031777-25031779, 25031889-25031892
780GKX0.998194945848383166230712650-30712652
781DMDX0.99701573521432331105832383192-32383207, 32383258-32383264, 32407703-32407712
782RPGRX0.73171436831454928345938144961-38144966, 38145055-38145057, 38145126, 38145178-38145213, 38145243-38145884, 38145891-38145926, 38145956, 38145969, 38145973-38146017, 38146029, 38146033, 38146037-38146047, 38146074-38146078, 38146102, 38146130-38146148, 38146154-38146161, 38146176, 38146180, 38146232, 38146237, 38146284, 38146370-38146371, 38146393-38146404, 38146450-38146467, 38147115-38147119, 38147142, 38147167-38147187, 38147204-38147241, 38147269, 38158314-38158321
783TSPAN7X0.986666666666671075038420801, 38420805-38420813
784ATP6AP2X0.999050332383671105340464929
785NYXX0.992392807745511144641333277-41333285, 41333512, 41333545
786MAOAX0.998737373737372158443571973, 43571985
787FTSJ1X0.9989898989899199048341116
788PORCNX0.994227994227998138648370286-48370293
789CACNA1FX0.9961240310077523593449061662-49061663, 49061772-49061778, 49063191-49063200, 49063203-49063205, 49066850
790FGD1X0.9979209979216288654494254-54494259
791ARX0.9952949692363413276366765159-66765170, 66765176
792EDAX0.996598639455784117669247796-69247798, 69247801
793MED12X0.998622589531689653470360648-70360650, 70361098-70361103
794TAF1X0.9894403379091960568270586165-70586166, 70586190-70586238, 70586287-70586293, 70586308, 70586322
795SLC16A2X0.9923995656894714184273641393-73641406
796ATRXX0.9962561839818228747976874384, 76919006-76919013, 76931728, 76937116-76937131, 76937258, 76937603
797ATP7AX0.999555851654452450377267163, 77298815
798BRWD3X0.998890737659466540979964927-79964928, 79978234, 79984256, 79984264, 79985428
799ZNF711X0.998687664041993228684510691, 84526833-84526834
800CHMX0.997961264016314196285128134-85128137
801PCDH19X0.998185117967336330699663564-99663569
802TIMM8AX0.982993197278915294100603537-100603541
803GLAX0.9992248062015511290100652915
804NDUFA1X0.9812206572774213119010477-119010480
805CUL4BX0.9996353026987612742119694355
806XIAPX0.98728246318608191494123025116-123025134
807ZDHHC9X0.9990867579908711095128957732
808HPRT1X0.9817351598173512657133607389-133607392, 133607480-133607487
809ZIC3X0.9935897435897491404136648985-136648987, 136649691-136649693, 136651143-136651145
810SOX3X0.98284862043251231341139586143-139586150, 139586480-139586494
811AFF2X0.9997459349593513936147582620
812FAM58AX0.9387755102040845735152861477, 152864476-152864480, 152864483-152864521
813SLC6A8X0.736897274633125021908152954030-152954273, 152954291, 152955935, 152956759-152956771, 152957470, 152957474-152957477, 152957495, 152957498-152957499, 152958800-152958817, 152959383-152959385, 152959465-152959472, 152959637-152959656, 152959678-152959722, 152959799-152959833, 152959869, 152959896-152959901, 152960030, 152960034, 152960047, 152960050, 152960053, 152960079-152960088, 152960174-152960193, 152960212-152960219, 152960222-152960225, 152960301-152960340, 152960550, 152960556, 152960597-152960599, 152960662-152960668
814ABCD1X0.785522788203754802238152990722-152990756, 152990762-152990803, 152990858-152990869, 152990927-152990934, 152990964-152990968, 152990993-152991016, 152991063-152991067, 152991107-152991140, 152991164-152991171, 152991230-152991254, 152991294-152991311, 152991340-152991346, 152991437-152991477, 152991530-152991534, 152991538, 152991582-152991594, 153001931-153001940, 153002611-153002643, 153008462-153008486, 153008675-153008678, 153008705-153008734, 153008785-153008800, 153008943-153008945, 153008960, 153008981-153008987, 153009027-153009047, 153009122-153009168
815L1CAMX0.971648118706941073774153128325, 153128829, 153129447-153129450, 153129926-153129930, 153130108, 153130445-153130448, 153130603-153130604, 153130871, 153131175, 153132236, 153133358-153133360, 153133363, 153133860, 153134021-153134024, 153135362-153135386, 153135633, 153135845-153135851, 153135867, 153135880, 153136262-153136268, 153136512-153136522, 153136572-153136574, 153136580, 153136592-153136594, 153136600-153136602, 153141249-153141262
816AVPR2X0.98655913978495151116153171118-153171124, 153171329, 153171401-153171404, 153171685, 153171746, 153172060
817MECP2X0.95724782899132641497153297871-153297872, 153297876, 153363062-153363122
818OPN1LWX0.91232876712329961095153418453-153418471, 153418521-153418544, 153421782-153421824, 153421909-153421915, 153424298, 153424351, 153424370
819OPN1MWX0.869406392694061431095153448269-153448278, 153453340, 153455651-153455668, 153458912-153458954, 153458978-153459006, 153459043-153459083, 153461500
820OPN1MWX0.90410958904111051095153485387-153485396, 153490458, 153492769-153492786, 153496030-153496036, 153496061-153496064, 153496097-153496117, 153496161-153496201, 153498546, 153498599, 153498618
821FLNAX0.6656596173212526567944153577257-153577297, 153577378, 153577766-153577769, 153577775, 153577795-153577827, 153577843-153577886, 153577898-153577922, 153578217, 153578428-153578471, 153578528, 153578531, 153579286-153579291, 153580036, 153580309-153580327, 153580346-153580364, 153580561-153580568, 153580620-153580662, 153580672-153580703, 153580729-153580747, 153580805-153580815, 153580927, 153580938-153580945, 153581014-153581043, 153581140-153581148, 153581156-153581162, 153581167-153581172, 153581222-153581225, 153581369-153581373, 153581390-153581417, 153581428-153581434, 153581456-153581482, 153581500-153581526, 153581555, 153581560-153581572, 153581675, 153581697-153581769, 153581777-153581825, 153581922-153581935, 153581972-153581993, 153582019-153582047, 153582330, 153582378, 153582554-153582555, 153582576-153582577, 153582588-153582605, 153582614-153582655, 153582814, 153582835-153582851, 153582990-153583005, 153583062-153583079, 153583222-153583229, 153583247-153583276, 153583324, 153583334-153583343, 153583381, 153583399-153583410, 153583421-153583429, 153585802-153585803, 153585816-153585821, 153585847, 153585851-153585854, 153585879, 153585886, 153585891, 153585896-153585897, 153585926-153585944, 153586570-153586577, 153586592, 153586618-153586647, 153586684-153586694, 153586822-153586871, 153587352-153587374, 153587412-153587432, 153587486-153587488, 153587614-153587669, 153587713-153587728, 153587852-153587876, 153587940, 153587958-153587960, 153588115-153588125, 153588143-153588146, 153588154-153588158, 153588176-153588196, 153588223-153588228, 153588235, 153588265, 153588388-153588429, 153588444, 153588478-153588494, 153588508-153588523, 153588555-153588567, 153588597-153588628, 153588775-153588776, 153588783, 153588817-153588857, 153588866, 153588870, 153588876, 153588881-153588882, 153588888, 153588902-153588909, 153588912-153588915, 153588923, 153588930, 153588954-153588955, 153589676-153589784, 153589798-153589833, 153589842-153589847, 153589915-153589918, 153590120-153590128, 153590364-153590439, 153590463-153590516, 153590622-153590650, 153590699-153590700, 153590804-153590815, 153590823-153590825, 153590849-153590878, 153590899-153590944, 153591031-153591048, 153591080-153591086, 153591126-153591143, 153592411-153592453, 153592480-153592482, 153592492-153592502, 153592515, 153592665, 153592668-153592671, 153592697-153592703, 153592940, 153592966-153592994, 153593007, 153593021, 153593030, 153593229-153593233, 153593278-153593279, 153593532-153593564, 153593619-153593627, 153593806, 153593830-153593844, 153594392, 153594410-153594423, 153594462-153594500, 153594553, 153594714, 153594770-153594772, 153594819-153594832, 153594930-153594950, 153595100-153595106, 153595120-153595135, 153595153-153595171, 153595192-153595214, 153595765-153595804, 153595907-153595912, 153596048-153596083, 153596093-153596100, 153596210-153596230, 153596241-153596270, 153596285-153596328, 153596387, 153596449-153596458, 153599241, 153599258, 153599265-153599291, 153599306-153599314, 153599345-153599391, 153599400-153599403, 153599409-153599496, 153599503-153599507, 153599510, 153599526-153599591
822EMDX0.54509803921569348765153607845, 153607855, 153607876-153607884, 153607902-153607926, 153608050-153608087, 153608101-153608103, 153608107-153608108, 153608112-153608127, 153608135, 153608321-153608361, 153608594-153608639, 153608645-153608693, 153609116-153609151, 153609280-153609285, 153609335-153609337, 153609343-153609344, 153609368-153609411, 153609487-153609509, 153609555-153609556
823TAZX0.74397972116603202789153640185-153640246, 153640269-153640289, 153640436-153640468, 153640494-153640541, 153641819-153641856
824GDI1X0.9947916666666771344153665622-153665626, 153668827, 153670961
825G6PDX0.864468864468862221638153760239, 153760266-153760294, 153760412, 153760601-153760620, 153760782, 153760867-153760868, 153760915-153760950, 153761176, 153761179-153761193, 153761301, 153761859-153761871, 153761880, 153761883, 153762580, 153762618-153762623, 153762655-153762704, 153763514-153763522, 153763569-153763575, 153764173, 153775014-153775038, 153775072
826IKBKGX0.99112021857923131464153770569-153770571, 153770588, 153780249-153780256, 153788768
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
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
2.5DCTN1-R785Whet unknown0.001Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.985 (probably damaging), 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
2APOB-S4338Nhomozygous0.802Unknown
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-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
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-A206Vhomozygous0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-R462Qhomozygous0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2H6PD-R453Qhomozygous0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
1.5HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5HFE-C282Yhet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5NPC1L1-I1233Nhet unknown0.010Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-R48Ghomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhomozygous0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TTN-V33180Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P32685Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G31702Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26820Thomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I25199Vhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T24045MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S22872Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V19783Ihomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R19122Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18827Ihomozygous0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P17698Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N16125Dhomozygous0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A14593Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P10801Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R8194Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N6500Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A5771Vhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S5190Nhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K3154Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G2392Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R328Chet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
1C2orf83-W141*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1LRRN3-D24Ghomozygous0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MTRR-S284Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-R442Chet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-P477Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P174Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRT10-H487Yhet unknown0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-H487Yhet unknown0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-G130GGFGGGGFGGGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
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
1CACNA1S-L1800Shet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IRF6-V274Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
1F5-D2222Ghet unknown0.045Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-N817Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CROCC-R347Whet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1CROCC-P511Shet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.94 (probably damaging)
1CROCC-R658Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-R918Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-E1037Qhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
1CROCC-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AMPD1-M310Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
1LRP5-A1330Vhet unknown0.110Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-S494Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-D423Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PHKB-M185Ihet unknown0.011Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
1PHKB-I192Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE2-R1393Whomozygous0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests
1SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
1SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
1SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
1SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
1SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
1SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1SYNE2-E4913Khet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.251 (possibly damaging), Testable gene in GeneTests
1SYNE2-C6873Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADRB3-W64Rhomozygous0.085Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALG2-V367Ahet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG2-S11Phet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG2-G6Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-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
0.75BANK1-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
0.5ZFP90-H114Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging)
0.5AARS-T562Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GTF3C1-E2077Khet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.474 (possibly damaging)
0.5GTF3C1-F1959Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5GTF3C1-R1630Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-E432Dhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-L328Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCA-S1088Fhet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5S1PR3-R243Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TOP3A-L584Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH2-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)
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CHRNB1-E32Ghomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ADAM11-L93Shet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-R141*het unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ADAM11-A226Thet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-P255Shet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-I75Vhomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-S503Phet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.743 (possibly damaging)
0.5IL4R-Q576Rhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-S752Ahet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.328 (possibly damaging)
0.5IL4R-S786Phet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.5ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5OTOA-Y806Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OTOA-T1094Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-N1229Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhet unknown0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AVEN-E243Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MGA-T716Shomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-C1270Rhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TJP1-D1347Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SERPINA10-Q384Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SERPINA10-T161Shet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA10-S61Ghet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA10-K46Rhet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLH3-P844Lhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-K231Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.07 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-R184Chet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AX747031-Y95*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.5WHAMM-N212Shet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5WHAMM-P588Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5WHAMM-H736Phet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5MAPT-Y441Hhomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLST8-I57*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MLST8-T200Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ONECUT1-P75Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CEP152-L914Vhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCRN2-Q330Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SCRN2-M323Vhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VPS13B-A829Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLB1-P236Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLB1-H879Dhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLB1-A1318Vhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5PLB1-P1323Thet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK094748-Q220*het unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LILRB3-R465Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FPR2-F74Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.906 (probably damaging)
0.5NPHP4-P1160Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.439 (possibly damaging), Testable gene in GeneTests
0.5NPHP4-E618Khet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LENG1-E97Khet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5NLRP12-F402Lhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5MATN2-T187Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.899 (probably damaging)
0.5MATN2-K356Ehet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MATN2-A599Thet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.747 (possibly damaging)
0.5MATN2-T855Mhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TEKT4-M109Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEKT4-R190*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MRPS9-S13Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-P1315Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KDM3A-I212Vhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KDM3A-C417Fhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DNAH6-V141Mhomozygous0.928Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-G1694Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5DNAH6-Y2119Chet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DNAH6-K2859Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5STON1-GTF2A1L-K8Nhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-R127Thet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-Q607Hhet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-N963Dhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-T1043Ahet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FSHR-S680Nhomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_003131-Q17Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-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-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP11B1-A386Vhet unknown0.022Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP11B1-R43Qhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC1-M659Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LOXHD1-A2036Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-E1957Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-L577Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-V363Ihet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-M1Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IFNA1-V10Ahet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA1-A163Ghet unknown0.086Unknown
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
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC9-P103Ahet unknown0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.071 (benign)
0.5TTC9-C214Fhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RBFOX3-R223Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RBFOX3-T218Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ITGB4-L1779Phomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-S61Ahomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-T177Mhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEACAM20-D484Shifthomozygous0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CEACAM20-Y470Chet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEACAM20-S355Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CEACAM20-V108Ihet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM98C-C227Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-D63Nhomozygous0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5MLLT1-A297Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACTL9-R271Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ACTL9-H227Nhet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ACTL9-V51Ahet unknown0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACTL9-F37Shet unknown0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAN2B1-R337Qhomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ICAM1-G241Rhet unknown0.075Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.948 (probably damaging)
0.5ICAM1-K469Ehomozygous0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-I506Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUSK-V829Lhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-S1040Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NLRP3-Q705Khet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-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-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RPGR-N1077Khet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGR-Q527Delhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGR-R425Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (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
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNB2-R606Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5CACNB2-D655Ehet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANK1-R46Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.015 (benign)
0.5FANK1-L329Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5MUC6-T1945Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MUC6-K1941Nhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC6-N1937Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SCUBE2-H712Qhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCUBE2-T285Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-R1575Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5RET-G691Shomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-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
0.5CTNNA3-S160Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5STIL-H985Rhet unknown0.279Unknown
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
0.5IL23R-Q3Hhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5IL23R-G149Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5IL23R-L310Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM54-L110Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5PINK1-N521Thomozygous0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPG2-V3640Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-R534Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FUCA1-Q286Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FUCA1-L134Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5ABL2-K915Rhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NR_027444-W159Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FMO4-G372Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SPAG17-P1348Lhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SPAG17-E158Vhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SPAG17-R143Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NES-P1275Lhomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NES-R1133Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5NES-P1101Lhomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5IGSF9-P1117Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5IGSF9-G34Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5PPOX-R304Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5INSC-D329Nhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5HPS5-T1098Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.24 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
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
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OAS3-R18Khomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OAS3-R65Whet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KRT6B-Y497Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6B-D396Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT6C-G538Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARHGAP9-S370Ahet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARHGAP9-R50Ghet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R2066Chet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2153Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCM-N655Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-V878Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-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
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FNDC3A-T1017Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), 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
0.5MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K1955Rhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5LARP4-A9Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5COL2A1-E142Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRGPRX1-F273Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5MRGPRX1-A46Thet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
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
0.5SLC6A5-K457Nhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5EHF-A96Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RAG1-H249Rhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAG1-K820Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5TMEM123-V86Fhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5ATM-D1853Nhet unknown0.100Unknown
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
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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)
0.5SLCO1B1-N130Dhomozygous0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B1-P155Thomozygous0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thomozygous0.258Unknown
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
0.5A2ML1-D850Ehomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-R1122Whomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-A1226Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A2ML1-H1229Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-M1257Vhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWF-F2561Yhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EXPH5-N1967Dhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-L853Phet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-S676Nhet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-V525Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXPH5-H523Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXPH5-R328Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EXPH5-R19Ghet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGF23-T239Mhomozygous0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAX-D44Ehomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
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
0.5BRPF3-E1075Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5CPN2-Q509Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNIP2-R73Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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)
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-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
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NFKBIE-H95Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y48Fhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R64Khet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-QS152HAhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT2B11-P358Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPHA5-N81Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5LPHN3-T659Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TULP1-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
0.5CWH43-P2Thet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CWH43-H689Nhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CWH43-K696Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AASDH-A747Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AASDH-A705Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AASDH-K368Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5AASDH-P93Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5AASDH-I61Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5FAM194A-R549Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM194A-L426Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5LMBRD1-D469Ehomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-N627Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), 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
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ITIH3-Q315Khet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITIH3-T340Mhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5QARS-N285Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC22A14-L238Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC22A14-V284Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-S292Ghomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-P560Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC21A-R91Qhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5TTC21A-R290Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5TTC21A-E293Khet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5TTC21A-R1056Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTC21A-R1135Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTC21A-R1317Khet unknown0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL7A1-P595Lhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL7A1-R445Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSE-T25Ihet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5DSE-P34Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5RETNLB-P20Lhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RARS2-I331Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG1L2-L157Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL9A1-Q621Rhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIM1-A371Vhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIM1-P352Thet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-L1235Phet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5SLC9A10-V1058Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5SLC9A10-M844Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC9A10-G826Shet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5SLC9A10-S768Ihet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.735 (possibly damaging)
0.5SLC9A10-Q732Khomozygous0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5SLC9A10-T705Ihomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5SLC9A10-T424Ahet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.239 (possibly damaging)
0.5SLC9A10-I364Vhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I348Mhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I286Vhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I158Vhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5WISP3-Q74Hhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIDT1-V78Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.96 (probably damaging)
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LECT2-G63Ehet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LECT2-I58Vhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB10-T213Rhomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.885 (probably damaging)
0.5DCDC2-S221Ghet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCDC2-P152Ahet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5TRIM15-I29Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5TRIM15-A42Thet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5TRIM15-L235Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.867 (probably damaging)
0.5HLA-H-E47Khet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G181*het unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NR3C1-N363Shet unknown0.022Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDLIM7-A40Vhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NIPAL4-S453Lhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V35Lhomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO6A1-A27Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5TLR2-P631Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TERT-A1062Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MCPH1-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-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-P2731Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T1495Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPK1-T458Ahet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ALPK1-G565Dhet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-H642Rhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-S710Fhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ALPK1-M732Ihet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-M861Thomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5PRSS12-R55Thomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSB-S384Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5ARSB-A33Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly 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-S2764Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDSN-M18Lhomozygous0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SH2D4A-E209Ghet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5SH2D4A-E216Ghet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.931 (probably damaging)
0.5SH2D4A-G263Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C9-P167Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR52-P745Lhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5WDR52-K284Nhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR52-K53Ehet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GLI3-S1028Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5THBD-A473Vhomozygous0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GTSF1L-L56Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIB3-Q84Rhomozygous0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5YBEY-R150Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (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-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UMODL1-N274Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5UMODL1-R447Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5UMODL1-R447Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5UMODL1-M559Thet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UMODL1-Q665*het unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5UMODL1-R691Ghet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-I767Thomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-D1336Nhet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ANO7-D70Nhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-D344Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLHDC10-S2Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging)
0.5MARCH7-T193Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5MARCH7-A323Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIAA1715-T159Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.426 (possibly damaging)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5CNGB3-E755Ghet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), 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
0.5COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-R408Hhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-H451Rhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRSS1-C206Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-Q209Ehet unknown0.008Unknown
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-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-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
0.5COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-G545Ahet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RP1-R872Hhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-R1595Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-S1691Phomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC14L3-R364Chet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.305 (possibly damaging)
0.5SEC14L3-D335Ehet unknown0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC14L3-R214Hhet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
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-L2097Phet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (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-M2188Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-Q2361Rhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (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-A2549Thet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (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
0.5PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
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
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ISX-S28Ghomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-P49Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5ISX-P57Shomozygous0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhomozygous0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-H1300Rhomozygous0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PNPLA5-T218Ihet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5PNPLA5-T200Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-H94Rhomozygous0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-L91Mhomozygous0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-P34Shomozygous0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BAIAP2L2-P407Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5VWDE-F1485Chet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G1009Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C890Fhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-E869Khet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-Y804Hhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R385*het unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5VWDE-G340Dhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R39Hhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknown0.375Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-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
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCMTD1-R248Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.375APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375APC-G2502Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-N501Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CFTR-S42Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FGA-T331Ahet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.375FGA-A187Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-R2326Qhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-N1902Ihomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-L1873Vhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-L1748Fhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-D1662Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-S1517Ghet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-R1515Whet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-I1451Thet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-I1361Vhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-Q1325Ehet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-I1263Vhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ABCA4-S2255Ihet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ABCA4-C1502*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.375ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DPCR1-T381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DPCR1-E1295Khet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DPCR1-Y1348Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DPCR1-R1393Qhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I338Thet unknown0.038Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUC3A-M6Ahet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-I10Shet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T75Khet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-V82Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC3A-T98Ihet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-A190Shet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S196Phet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T279Ahet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-Y281Hhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S296Ihet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S329Nhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T370Ahet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S388Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC3A-R393Phet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-E602Ahet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25F9-T194Ahet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25OPN1LW-M236Vhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F8-D1260Ehet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBXW5-VIDI398LIEVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FBXW5-F280*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A120Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25KAL1-V534Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-S1547Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
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-R884Chet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.25NRAP-A674Vhet unknown0.275Unknown
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-Q360Rhomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thomozygous0.525Unknown
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-V208Ahomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EIF4H-M180Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EIF4H-E248Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZP3-S38Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZP3-E48Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZP3-R345Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25XIAP-Q423Phet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly 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
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25TMEM81-F100Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.25TMEM81-R77Qhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MICA-W37Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-M174Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25MICA-P330Lhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC22A16-V252Ahet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PNPLA2-L481Phet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PNPLA2-L481Phet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OPN4-T405Ihomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OPN4-S415*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLAA-H230Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLAA-Y228Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-V312IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-Y546*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BZRAP1-H1728Rhet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25BZRAP1-A1140Phet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BZRAP1-L1046Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BZRAP1-S1038Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TBC1D10A-R410Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TBC1D10A-H174Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GRP-R4Shomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GRP-R141Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25RNF213-N3069Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RNF213-E3222Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CXCL16-A200Vhet unknown0.398Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CXCL16-I142Thet unknown0.398Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CXCL16-L39Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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
0.25GLTPD2-F241Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLTPD2-L248Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-R988Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.178 (benign), Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-M1974Thet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25KRTAP10-1-R241Qhet unknown0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRTAP10-1-D159Shet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRTAP10-1-S137Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRTAP10-1-P39Lhet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD226-R279Khet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IGSF5-W18*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25IGSF5-R49Thomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IGSF5-D350Ehet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CBR3-C4Yhet unknown0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
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
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAAT-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
0.25MTHFD1-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)
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NR3C2-V180Ihet unknown0.899Unknown
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
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MSX2-M129Thet unknown0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25FAM55B-N351Ihet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TIRAP-S180Lhet unknown0.115Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC26A2-I574Thet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GYS2-Q655Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TAS2R46-L228Mhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25TAS2R46-V87Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG1-D429Ehet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASR-E1011Qhet unknown0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AHNAK2-P5397Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.149 (benign)
0.25AHNAK2-S181Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AHNAK2-T33Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTTP-Q95Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-I128Thet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-H297Qhomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25JMJD7-PLA2G4B-R422Chet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25JMJD7-PLA2G4B-R486*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0ITPA-P32Thet unknown0.061Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0COL5A1-G856Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0FGFR3-L259Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0PLEC-D4004Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0PEX1-I696Mhet unknown0.027Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,704,960,207 bases (95.5% of callable positions, 89.5% of total positions)

Coding region coverage: 31,433,505 bases (94.6% of all genes, 95.5% 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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