hu72B82C - GET-Evidence variant report

Variant report for hu72B82C

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1LRP5-V667MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0413646This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.1
2COL4A1-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
3MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
4FCGR2B-I232TLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.132664A study in an Asian population associates this variant with increased susceptibility to anti-glomerular basement membrane antibody disease (anti-GBM), an autoimmune disease that causes bleeding, lung, and kidney disease. Even for carriers of this variation, anti-GBM is quite rare -- this variant only increases absolute risk for the disease by 0.1-0.2%. A much weaker finding seems to correlate homozygosity for the variant with increased risk for systemic lupus erythematosus (SLE); if true, the amount of increased risk due to the variant is unclear.1
5CETP-A390PLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0388548This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl).1
6MBL2-R52CLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.048615This 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 D. See G54D (variant B) 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
8PKP2-S140FLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00241681Implicated as causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in a dominant manner. However, it fails to segregate with disease in studied families and has also been seen in controls. It is unclear whether there is any significant enrichment for this variant in patients -- even if so, we estimate the increased risk of ARVD for a carrier of this variant to be quite low (less than .1%).1
9RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
10ELAC2-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
11TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
12BRCA2-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
13SP110-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
14TP53-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
15ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
16rs1544410LowUncertainUncertain 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
17FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
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
18NPC1-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
19CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
20TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
21KCNJ11-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
22ITGB2-R586WLowLikelyLikely benign

Unknown, Heterozygous
0.00492748Reported to cause leukocyte adhesion deficiency in a recessive fashion, as reported to ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000010071/). This report comes from Nelson et al 1992 (PMID: 1346613), where a case study found this variant in a patient. However, it coupled with a more severe variant on the same chromosome (an in-frame 12 base insertion), and biochemical assay indicated the effect of this variant was minor. Thus, it is highly likely that this variant was coincidentally observed, and its relatively high allele frequency in ExAC data (0.8%) also strongly contradicts a serious effect. As such, this reported effect should be considered disproven, or potentially misreported by OMIM to ClinVar.1
23FANCI-P55LLowLikelyLikely benign

Unknown, Heterozygous
0.0507529Probably benign.1
24PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
25COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
26COL9A2-T246MLowLikelyLikely benign

Unknown, Heterozygous
0.0252835Probably benign.1
27NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
28LOXL1-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
29GAA-E689KLowUncertainUncertain benign

Complex/Other, Heterozygous
0.0301845This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect.1
30GALT-N314DLowUncertainUncertain benign

Unknown, Heterozygous
0.0716676This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).1
31AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
32APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
33ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
34SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
35KRT85-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
36ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
37MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
38NOTCH3-H1133QLowUncertainUncertain benign

Unknown, Heterozygous
0.0131995Probably benign.1
39CD19-R514HLowUncertainUncertain benign

Unknown, Heterozygous
0.0482432Presumed benign.1
40SLC45A2-L374FLowUncertainUncertain benign

Unknown, Heterozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
41PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
42WFS1-R456HLowUncertainUncertain benign

Unknown, Heterozygous
0.0454545Reported benign in ClinVar1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31510805 / 33282720 = 94.68%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.409905506679736226138955553-955753, 957609-957639, 957650, 957667, 957676-957715, 957734-957736, 957739-957822, 970657-970685, 970688-970689, 976045-976168, 976176-976195, 976212-976260, 976553-976748, 976763-976777, 976869-976963, 976977-976987, 977013, 977064-977082, 977336-977337, 977342-977352, 977363, 977389, 977421-977504, 977509-977511, 978625, 978637-978648, 978706, 978756-978804, 978918-978950, 978959-978963, 978989-979029, 979053-979062, 979068-979112, 979235-979242, 979251-979297, 979304-979337, 979345-979403, 979489-979490, 979511, 979518-979540, 979550-979558, 979579-979588, 979613, 979629, 979714-979738, 979742-979750, 979753, 979784-979790, 979793-979796, 980569-980571, 980574-980577, 980601-980621, 980635-980637, 980642-980645, 980648-980657, 980756-980828, 980884, 981123-981148, 981184, 981202, 981221, 981344-981363, 981400, 981573-981580, 981585-981587, 981604-981610, 981613-981624, 981644-981645, 981777-981801, 981817-981846, 981868-981881, 981893, 981920-981998, 982018, 982023-982031, 982051, 982055-982081, 982093, 982200-982249, 982253, 982262-982299, 982321, 982723-982749, 982763-982798, 982812-982834, 982960, 982992-983049, 983174-983265, 983392-983429, 983439-983488, 983513-983594, 983607-983745, 984247-984262, 984276-984439, 984616-984777, 984798-984831, 984946-984976, 985023-985045, 985056-985103, 985116-985151, 985175, 985313-985356, 985366-985388, 985613-985634, 985685, 985690-985695, 985848-985850, 985853-985879, 985892-985932, 985968, 986133-986158, 986184-986197, 986209-986217, 986633-986664, 986681-986702, 986726-986737, 986833-986839, 986844-986846, 986852-986875, 986895-986934, 986957-987003, 987015-987025, 987108-987135, 987152-987153, 987176-987195, 989209, 989212-989220, 989225-989233, 989237, 989245-989247, 989344-989357, 989851, 989896-989926, 990233-990270, 990280, 990285, 990300-990343, 990353-990354
2GABRD10.6077998528329753313591950863-1950930, 1956439-1956482, 1956957-1956969, 1956977, 1956991-1956992, 1957037, 1957046-1957064, 1957073-1957080, 1957107, 1957113-1957146, 1957171, 1957174-1957177, 1959068, 1959075, 1959594-1959632, 1960550-1960575, 1960632-1960661, 1960677-1960681, 1960990-1960994, 1960999-1961014, 1961041-1961044, 1961050, 1961072-1961102, 1961145, 1961171-1961194, 1961422-1961424, 1961435, 1961445-1961455, 1961469, 1961473, 1961476-1961525, 1961603-1961686, 1961714-1961715
3PEX1010.752293577981652439812337265-2337273, 2337923-2337957, 2338020, 2338159-2338170, 2338181, 2338187, 2338190, 2338207, 2338212-2338216, 2338234, 2338314-2338330, 2339999-2340024, 2340171-2340182, 2340200, 2340204, 2340216-2340222, 2343830-2343941
4NPHP410.9369306236860527042815924543-5924546, 5934716-5934717, 5934934-5934936, 5935039, 5935153-5935160, 5947458-5947477, 5947504-5947505, 5950956, 6038330-6038473, 6046221-6046269, 6046314-6046349
5ESPN10.7879142300194954425656485016-6485232, 6485240-6485250, 6485273-6485306, 6488330-6488336, 6488376-6488387, 6488464-6488467, 6500360, 6500363, 6500386-6500419, 6500459, 6500498-6500500, 6500714-6500809, 6500826-6500868, 6501031, 6505838-6505894, 6508725, 6508735, 6508747-6508748, 6508796-6508802, 6508888-6508894, 6512130-6512133
6PLEKHG510.978676701160246831896529179-6529212, 6530944, 6556558-6556568, 6556605-6556622, 6557380-6557383
7PEX1410.81657848324515208113410535035-10535054, 10684403, 10684424-10684460, 10687375-10687376, 10689588-10689592, 10689638-10689655, 10689678-10689720, 10689749-10689753, 10689797-10689816, 10689871-10689876, 10689962-10689963, 10689996-10690044
8TARDBP10.994377510040167124511082356-11082362
9MASP210.83794274623969334206111097771, 11097778, 11102951, 11102956, 11103010-11103012, 11103019, 11103051-11103059, 11103074-11103075, 11103418-11103484, 11103491-11103507, 11103517-11103591, 11105476-11105489, 11105500-11105504, 11105513-11105528, 11105545, 11105578-11105596, 11106613-11106617, 11106650-11106667, 11106732-11106736, 11106778-11106790, 11106959-11106993, 11107136, 11107146, 11107152-11107162, 11107165-11107176
10MTHFR10.996448503297827197111855171-11855176, 11862963
11PLOD110.997710622710625218412023675-12023676, 12026354-12026355, 12030756
12MFN210.996042216358849227412066743, 12067110-12067113, 12067306, 12071612-12071614
13CLCNKA10.90261627906977201206416354391-16354400, 16355334, 16355711, 16356468-16356469, 16356531-16356537, 16356969-16357066, 16357147, 16358268-16358274, 16358320, 16358323, 16358330-16358336, 16358698-16358739, 16358743-16358745, 16358752, 16358773-16358781, 16360106-16360113, 16360137, 16360144
14CLCNKB10.92102713178295163206416372057, 16375720-16375735, 16378693-16378695, 16378714-16378755, 16378762-16378809, 16378842, 16378881-16378888, 16380220, 16380225, 16382970-16382976, 16383364-16383398
15ATP13A210.96867061812024111354317312780, 17313596-17313619, 17314869-17314874, 17314942, 17318762, 17322472-17322506, 17322577-17322579, 17322611-17322620, 17322909, 17322917-17322924, 17323522, 17323527-17323532, 17323602, 17326583-17326595
16ALDH4A110.999408983451541169219215929
17PINK110.996563573883166174620960042-20960044, 20960149-20960151
18ALPL10.997460317460324157521889635, 21889641-21889642, 21900171
19HSPG210.968958712811174091317622149825-22149860, 22149919-22149923, 22150109-22150135, 22150157-22150163, 22150621-22150653, 22150815, 22150834-22150856, 22151092-22151108, 22151205-22151229, 22151238-22151245, 22154579-22154585, 22154625-22154626, 22155342-22155362, 22155505-22155514, 22155544-22155556, 22156034-22156077, 22156528, 22157548-22157550, 22165375, 22168074, 22168086, 22169926-22169931, 22173938-22173944, 22174297-22174305, 22181430, 22186068-22186069, 22186121-22186131, 22186388-22186405, 22186476-22186480, 22199127, 22263648-22263710
20WNT410.9119318181818293105622456135-22456149, 22456160, 22469339-22469415
21HMGCL10.9918200408998897824151846-24151851, 24151889-24151890
22FUCA110.91720199857245116140124194388-24194423, 24194429-24194473, 24194554-24194582, 24194606-24194608, 24194617, 24194734-24194735
23LDLRAP110.981661272923411792725870202, 25870205, 25870261-25870275
24SEPN110.88069544364508199166826126722-26126904, 26135592-26135607
25KCNQ410.92959770114943147208841249766-41249803, 41249824-41249869, 41249878-41249884, 41249891-41249901, 41249913-41249921, 41249948-41249959, 41249998-41250016, 41250054, 41250059-41250060, 41284296-41284297
26LEPRE110.9873360470375428221143232443, 43232510-43232515, 43232596-43232616
27SLC2A110.996619337390135147943424309-43424313
28POMGNT110.9783156833081243198346660582-46660585, 46660591-46660595, 46661525-46661528, 46662403-46662406, 46662433-46662434, 46662439-46662453, 46663374, 46663461-46663468
29PCSK910.9932659932659914207955505538, 55505553-55505557, 55505564-55505565, 55505572, 55521683, 55521687, 55521690, 55521853-55521854
30COL11A110.99743448781382145457103352499, 103364254-103364266
31GSTM110.49771689497717330657110230496-110230531, 110230792-110230794, 110230854, 110230867, 110231295-110231307, 110231312, 110231343, 110231688-110231694, 110231721-110231744, 110231852, 110231880-110231947, 110232908-110232910, 110232951-110232988, 110233076-110233163, 110233171-110233181, 110235884-110235917
32VANGL110.996825396825451575116227976-116227980
33NOTCH210.99244875943905567416120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539916, 120539936, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572569-120572575, 120572609-120572610, 120611964, 120611990-120612011
34FLG10.9768586903003428212186152276453, 152276461, 152277963-152277981, 152278431-152278437, 152279189-152279218, 152279406, 152279659-152279666, 152279838-152279851, 152280002, 152280538-152280539, 152280553-152280554, 152280570-152280617, 152281142-152281150, 152281911, 152281966-152281994, 152282262, 152282271, 152282415-152282421, 152283079, 152283105-152283106, 152283160, 152283521, 152283530, 152284242-152284245, 152284339, 152284344, 152284405, 152284607-152284613, 152284994-152285023, 152285088, 152285091, 152285094, 152285119, 152285122, 152285127, 152285131, 152285214, 152285280, 152285598, 152285679, 152285686, 152286154-152286191
35CHRNB210.9986746189529521509154544384, 154544426
36PKLR10.98202898550725311725155269977-155270007
37SEMA4A10.99431321084864132286156131145-156131149, 156131157-156131161, 156131217-156131219
38F510.99535580524345316675169510233, 169510380, 169510499-169510527
39NPHS210.9982638888888921152179544898, 179544901
40CFH10.98917748917749403696196715005-196715011, 196716334-196716359, 196716389-196716395
41CFHR110.998992950654581993196801078
42ASPM10.99913743530765910434197069808, 197069906, 197070524, 197115487-197115492
43PKP110.9995414947271912181201282480
44ADCK310.870884773662552511944227149149-227149152, 227149221, 227149235-227149237, 227152701-227152706, 227152807-227152878, 227152913-227152946, 227152967-227152979, 227153017-227153020, 227153039-227153062, 227153098-227153111, 227153416-227153423, 227169764, 227169789, 227170422, 227170430-227170432, 227170457-227170464, 227170699-227170701, 227170717, 227171554-227171555, 227171795-227171805, 227171839, 227172624-227172625, 227172955-227172970, 227173009, 227173023-227173027, 227174418-227174429
45GJC210.343939393939398661320228345490-228345494, 228345559-228345582, 228345586-228345603, 228345606, 228345622-228345673, 228345719-228345737, 228345785-228345842, 228345852-228345856, 228345861, 228345903, 228345909-228345917, 228345921, 228345932, 228345944-228345991, 228346001-228346067, 228346090-228346175, 228346181-228346208, 228346218-228346248, 228346255-228346559, 228346570, 228346585, 228346593, 228346597, 228346600, 228346612, 228346620-228346640, 228346650-228346660, 228346667-228346670, 228346682, 228346685-228346713, 228346718-228346733, 228346762-228346779
46ACTA110.91798941798942931134229567741-229567755, 229567901-229567932, 229568049-229568071, 229568092-229568103, 229568112, 229568170-229568178, 229568388
47LYST10.996668420129763811406235907279-235907316
48ACTN210.97877094972067572685236849992-236849998, 236850010-236850059
49RYR210.99953032742888714904237729977-237729983
50FH10.99086757990868141533241672025-241672028, 241682965-241682972, 241682977, 241682997
51OPTN100.9936562860438311173413151247-13151257
52PHYH100.999016715830881101713341978
53PTF1A100.6089159067882538698723481510-23481542, 23481555-23481570, 23481576-23481577, 23481584-23481593, 23481615-23481688, 23481700-23481793, 23481808-23481835, 23481839-23481841, 23481844, 23481853-23481925, 23481941-23481944, 23481956-23481957, 23482011-23482016, 23482090, 23482106-23482144
54PDSS1100.995993589743595124826986677-26986681
55MASTL100.9920364050056921263727450057, 27459007, 27459011, 27459014, 27459766, 27459769, 27469989-27469995, 27470473-27470480
56RET100.9835575485799755334543572707-43572745, 43572759-43572774
57ERCC6100.999330655957163448250740822-50740824
58EGR2100.99790356394133143164573487-64573489
59CDH23100.986774065234691331005673439200-73439219, 73462336, 73464760-73464761, 73464781, 73464877, 73537497-73537514, 73537543, 73537600, 73537955, 73539028-73539034, 73539121, 73539188, 73544789, 73550147, 73550152-73550160, 73551074-73551075, 73551079-73551092, 73569812, 73571713, 73571736, 73574797-73574844
60LDB3100.9926739926739916218488428540, 88441483-88441488, 88451659-88451662, 88466324, 88466384, 88476525-88476527
61GLUD1100.8211091234347300167788836362-88836368, 88854082-88854099, 88854144-88854165, 88854175-88854210, 88854230-88854265, 88854272-88854292, 88854308-88854324, 88854348-88854366, 88854379-88854380, 88854400-88854430, 88854434-88854514, 88854517-88854526
62HPS1100.941120607787271242106100177321-100177355, 100177364-100177427, 100177467, 100177961-100177974, 100189552-100189559, 100189562-100189563
63FBXW4100.9959644874899151239103454329-103454330, 103454358-103454360
64HPS6100.97379725085911612328103825281-103825285, 103825379-103825385, 103825443-103825456, 103825485-103825506, 103825737, 103826114-103826122, 103826988-103826990
65SUFU100.98831615120275171455104263942-104263958
66COL17A1100.9997774810858914494105816896
67EMX2100.997364953886692759119302825-119302826
68HTRA1100.730422730422733891443124221169-124221172, 124221182-124221265, 124221278-124221500, 124221506-124221543, 124221567-124221570, 124221583-124221607, 124221628-124221636, 124266223-124266224
69UROS100.9711779448621623798127477437-127477458, 127477553
70HRAS110.8877192982456164570532636-532643, 532724-532747, 532751, 533508, 533515, 533524, 533882-533886, 533932-533944, 534252-534261
71TALDO1110.887573964497041141014747482-747542, 747563-747575, 763344-763358, 763395, 763400-763421, 763517-763518
72SLC25A22110.52263374485597464972791932-791944, 791981, 792004-792037, 792045-792068, 792151-792166, 792206-792210, 792304-792368, 792395-792407, 792453-792458, 792553-792685, 792881-792919, 792932, 792941-792988, 794776-794796, 794822, 794827-794828, 794864-794901, 794996-794999
73PNPLA2110.711551155115514371515819719-819801, 819807-819905, 821651-821652, 821992-821996, 822512-822544, 823532-823566, 823738-823740, 823749, 823790-823800, 823853-823855, 823998-824032, 824062-824063, 824090-824094, 824117-824119, 824320-824324, 824354-824363, 824387-824405, 824529-824556, 824572-824580, 824679-824688, 824789, 824794-824828
74CTSD110.732041969330133212391774777-1774780, 1774806-1774808, 1774886, 1774900, 1775036-1775066, 1775112-1775119, 1775224-1775251, 1775264-1775268, 1775277, 1775325-1775349, 1775361-1775368, 1778569-1778588, 1778607-1778613, 1778725, 1778783-1778786, 1780199-1780241, 1780263-1780268, 1780274-1780282, 1782539-1782550, 1782587-1782589, 1782639-1782661, 1782670-1782690, 1785022-1785089
75TNNI2110.94899817850638285491861454-1861468, 1861796, 1861870-1861875, 1862059-1862062, 1862076, 1862364
76TNNT3110.377091377091384847771944105, 1946329-1946336, 1947925-1947939, 1950350-1950369, 1951040-1951058, 1954951-1954969, 1954982-1955022, 1955033-1955054, 1955161-1955238, 1955562-1955569, 1955591-1955620, 1955624-1955625, 1955635, 1955652-1955675, 1955787-1955791, 1955794-1955820, 1955845-1955877, 1956059-1956096, 1956099-1956100, 1958193-1958220, 1958226-1958233, 1959668-1959722
77IGF2110.562587904360063117112154217, 2154224-2154232, 2154246, 2154251-2154262, 2154299-2154301, 2154309-2154421, 2154424, 2154769, 2154788-2154818, 2154858-2154869, 2154883-2154895, 2156663, 2161371-2161428, 2161452-2161495, 2161516-2161526
78TH110.4139682539682592315752185477-2185480, 2185505-2185554, 2185561, 2185575-2185612, 2186473-2186524, 2186534-2186575, 2186582-2186595, 2186908-2186993, 2187234, 2187245-2187268, 2187710-2187730, 2187736-2187779, 2187865-2187914, 2187923-2187998, 2188117-2188169, 2188183-2188207, 2188220-2188262, 2188665-2188667, 2188693-2188715, 2189118-2189163, 2189402-2189404, 2189734-2189770, 2189827-2189855, 2190886, 2190894-2190918, 2190924, 2190927-2190934, 2190969-2190973, 2190980, 2190994-2191059, 2191920-2191924, 2191936-2191969, 2191981, 2191993-2192000, 2192973, 2192982-2192983
79KCNQ1110.7892663712456942820312466329-2466651, 2466660-2466714, 2591891, 2591922-2591932, 2592555-2592556, 2592582, 2592585-2592590, 2593255-2593256, 2593297-2593298, 2593327-2593332, 2604665-2604675, 2606533-2606536, 2608892, 2610076-2610078
80CDKN1C110.124079915878028339512905234, 2905265-2905292, 2905313-2905321, 2905347-2905364, 2905909-2906274, 2906281-2906589, 2906597, 2906600-2906627, 2906636, 2906648-2906719
81SMPD1110.994198312236291118966411931-6411941
82ABCC8110.9892541087231451474617498273-17498323
83WT1110.91441441441441133155432456367, 32456508, 32456547, 32456554, 32456557, 32456562, 32456575-32456598, 32456601, 32456619, 32456648, 32456654, 32456658-32456660, 32456671-32456706, 32456723-32456724, 32456736-32456751, 32456756, 32456825-32456862, 32456889-32456891
84ALX4110.994336569579297123644286567, 44286597, 44286602-44286606
85SLC35C1110.9479166666666755105645827589-45827595, 45827606, 45827618, 45827726, 45827827-45827871
86PEX16110.85590778097983150104145931661-45931694, 45935443-45935448, 45935953-45935971, 45937349-45937374, 45939030, 45939256-45939319
87F2110.9668271803103362186946744979-46744986, 46745000-46745047, 46747491-46747496
88MYBPC3110.9966013071895413382547354146, 47367886, 47370022-47370030, 47372987-47372988
89RAPSN110.999192897497981123947470345
90BEST1110.9891922639362919175861719336-61719343, 61723282-61723292
91ROM1110.999053030303031105662380780
92SLC22A12110.78399518652226359166264359029, 64359110-64359113, 64359146-64359147, 64359188, 64359193-64359199, 64359278-64359292, 64359346-64359393, 64360251-64360264, 64360922-64360930, 64360970, 64360992-64361008, 64361025-64361031, 64361135, 64361187-64361200, 64365988-64366000, 64366058-64366060, 64366280-64366294, 64367152-64367208, 64367242-64367280, 64367306-64367312, 64367335-64367339, 64367342, 64367355-64367362, 64367840-64367868, 64368207-64368225, 64368240, 64368243, 64368293-64368312
93PYGM110.93752471332543158252964518826, 64521023, 64521027-64521032, 64521039-64521042, 64521103-64521106, 64521112-64521115, 64521118, 64521126, 64521145, 64521351-64521356, 64521393-64521412, 64521488, 64521495-64521497, 64521735, 64521742, 64521773, 64525300-64525301, 64525322, 64525802-64525809, 64525909-64525924, 64525967-64525987, 64526140-64526141, 64527150-64527152, 64527155-64527160, 64527163, 64527177, 64527198-64527224, 64527295, 64527299, 64527342, 64527347-64527357
94MEN1110.9816017316017334184864572105-64572121, 64572542-64572545, 64572602, 64577527-64577537, 64577580
95EFEMP2110.9692192192192241133265636050-65636053, 65636078-65636089, 65636092, 65637414, 65637419, 65637424, 65637651-65637657, 65638015, 65638650-65638653, 65638740, 65639818-65639825
96CST6110.961845065779603, 65780297-65780304, 65780404-65780412
97BBS1110.999438832772171178266287170
98SPTBN2110.89627770807194744717366457624, 66457628, 66460715-66460716, 66460784-66460786, 66460824, 66460831-66460838, 66463829-66463840, 66463871-66463874, 66466110-66466125, 66467999-66468003, 66468069-66468070, 66468097, 66468121-66468140, 66468169, 66468194-66468203, 66468223-66468245, 66468257-66468273, 66468281-66468335, 66468344-66468349, 66468392-66468413, 66468460-66468488, 66468493, 66468507-66468525, 66468532-66468533, 66468535, 66468544, 66468551-66468573, 66468590-66468593, 66468604-66468605, 66468729-66468753, 66469079, 66469113, 66472198-66472237, 66472280-66472284, 66472287-66472288, 66472413-66472453, 66472538-66472540, 66472567, 66472621-66472643, 66472696-66472704, 66472707-66472709, 66472714-66472715, 66472738-66472775, 66472848, 66473232-66473249, 66473290-66473302, 66474987-66475004, 66475053, 66475074-66475076, 66475079, 66475087-66475091, 66475116-66475128, 66475138-66475144, 66475158-66475199, 66475205-66475223, 66475235, 66475249-66475266, 66475619-66475642, 66475653-66475677, 66475715-66475760, 66476391, 66478467, 66483387
99PC110.98699462821646353766617205, 66618243, 66620041, 66638620, 66638623, 66638626, 66638937-66638951, 66639196-66639220
100CABP4110.7765700483091818582867222945-67222977, 67222986-67222991, 67223088-67223090, 67223101-67223113, 67223144-67223155, 67223235-67223260, 67223659-67223678, 67223770-67223774, 67223830-67223831, 67225854, 67225888-67225889, 67225899-67225952, 67225982-67225989
101AIP110.4410876132930555599367254520-67254527, 67256738-67256784, 67256808-67256825, 67256830, 67256873-67256899, 67256909-67256926, 67257509-67257598, 67257613-67257632, 67257653-67257685, 67257787-67257928, 67258259-67258264, 67258268-67258304, 67258310-67258392, 67258402-67258403, 67258416-67258420, 67258429-67258432, 67258435, 67258441, 67258445-67258450, 67258453-67258454, 67258457-67258460
102NDUFS8110.8009478672985812663367799651-67799675, 67799768-67799770, 67799779-67799782, 67800413-67800423, 67800449, 67800633, 67800637, 67800671-67800705, 67800727, 67800736, 67803723-67803736, 67803781, 67803940, 67804004-67804020, 67804045-67804046, 67804053-67804060
103TCIRG1110.551945447252311117249367808739-67808753, 67808784-67808819, 67808855, 67809230, 67809240, 67809258-67809259, 67810110-67810128, 67810133-67810138, 67810168-67810217, 67810270-67810322, 67810419, 67810437-67810498, 67810839, 67810854-67810867, 67810934-67810943, 67811038, 67811059-67811098, 67811118-67811120, 67811294-67811374, 67811627-67811628, 67811631-67811647, 67811690-67811712, 67811752-67811811, 67812448, 67812474, 67812488-67812492, 67812531-67812543, 67814939-67814941, 67814979, 67814999, 67815006, 67815024-67815039, 67815114-67815125, 67815205, 67815241-67815264, 67815349-67815369, 67816368, 67816376-67816383, 67816394, 67816408-67816409, 67816447-67816450, 67816548-67816584, 67816618-67816646, 67816652-67816691, 67816716-67816731, 67816751-67816761, 67817130-67817155, 67817163-67817249, 67817457-67817461, 67817465-67817467, 67817474-67817476, 67817490-67817524, 67817604-67817667, 67817687-67817721, 67817954-67817962, 67817986, 67817992-67818022, 67818032, 67818061-67818093, 67818115-67818131, 67818268-67818286
104LRP5110.92986798679868340484868080183-68080246, 68177403, 68177555-68177556, 68178915, 68179069-68179078, 68191064, 68192575, 68192690, 68193621-68193628, 68201153-68201156, 68201177-68201183, 68201188-68201196, 68201229, 68201295, 68201300, 68204357-68204373, 68204424-68204467, 68205914-68205921, 68205953-68205957, 68206009-68206028, 68206044, 68206051, 68206058-68206062, 68206070-68206087, 68207246-68207252, 68207275, 68207286, 68207314, 68207330-68207368, 68207376-68207384, 68213931, 68213938, 68213942, 68213972-68213980, 68216297-68216303, 68216307, 68216357, 68216411-68216412, 68216438-68216442, 68216454, 68216502-68216523
105CPT1A110.999569336778641232268527732
106IGHMBP2110.983232729711650298268671421-68671449, 68671477, 68673554, 68704255, 68704386, 68704428, 68704522-68704536, 68707029
107DHCR7110.997899159663873142871146474, 71146483, 71146549
108MYO7A110.736462093862821752664876867972, 76873354-76873361, 76874011-76874025, 76883799-76883821, 76883870-76883899, 76883919-76883923, 76885802-76885960, 76886418-76886471, 76886494-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893570, 76893584, 76893589-76893645, 76894113-76894202, 76895642-76895643, 76895649-76895653, 76895678-76895682, 76895687, 76895706-76895757, 76895759-76895760, 76900389-76900422, 76900481, 76901065-76901066, 76901080-76901084, 76901111-76901115, 76901139-76901180, 76901742-76901772, 76901813-76901817, 76901821, 76901859-76901907, 76903127, 76903139, 76903145, 76903213-76903234, 76903284-76903285
109FZD4110.9938042131350710161486666118-86666127
110TRPC6110.99606580829757112796101454165-101454175
111DYNC2H1110.99953650057937612945103043852-103043854, 103057085, 103060401-103060402
112ACAT1110.98520249221184191284107992361, 107992369-107992386
113ATM110.9992367244575379171108098573-108098577, 108098580, 108127042
114PTS110.9543378995433820438112097218-112097237
115DRD2110.998498498498521332113281449-113281450
116APOA1110.9253731343283660804116706619-116706648, 116706780-116706808, 116706873
117FXYD2110.997716894977171438117693415
118SCN4B110.998544395924311687118023352
119WNK1120.947964750314733727149862737-862782, 862822-862920, 862930-862939, 862971-862997, 863057-863129, 863145-863172, 863210-863231, 863258-863301, 863341-863353, 863393, 863397-863398, 994395, 994406-994408, 994809-994811
120CACNA2D4120.994141769185712034141906620-1906639
121CACNA1C120.996494436823652365612614094-2614097, 2676847, 2763041-2763043, 2794937, 2795364-2795370, 2797830-2797836
122VWF120.992181947405836684426131926-6131932, 6131955-6131982, 6132003-6132033
123TNFRSF1A120.97660818713453213686438584-6438612, 6438616-6438618
124TPI1120.96307506976758, 6976817-6976845
125ATN1120.973691575706699435737045888-7045942, 7046131-7046165, 7050639-7050642
126DNM1L120.999095431931252221132832327, 32832359
127PKP2120.9960222752585510251433049452-33049457, 33049470-33049471, 33049552, 33049640
128COL2A1120.999103942652334446448398064-48398067
129MLL2120.97917419044183461661449425402-49425443, 49425610, 49425780, 49425784-49425786, 49425793-49425797, 49425823, 49426562-49426682, 49426728-49426732, 49426771, 49426779-49426780, 49426852-49426855, 49426864, 49426902, 49426905, 49426908-49426916, 49426969, 49427022, 49427025, 49427047-49427049, 49427064, 49427067, 49427236, 49427264-49427283, 49427315-49427320, 49427328, 49427526, 49427564-49427567, 49427589-49427593, 49427659-49427661, 49431292-49431321, 49431500-49431520, 49431549-49431555, 49431578-49431594, 49431789, 49431840, 49431843, 49431874, 49431989-49431999, 49432231, 49432241, 49433317-49433318, 49433375, 49434036, 49434073-49434075
130DHH120.982367758186421119149483964, 49484047-49484064, 49484142, 49488172
131TUBA1A120.872807017543865845649522206-49522241, 49522303-49522320, 49522386, 49522575, 49522586, 49522605
132KRT81120.9914361001317513151852684036, 52685177-52685188
133KRT86120.999315537303221146152696918
134KRT6B120.990560471976416169552844243, 52844246, 52845528-52845534, 52845598-52845604
135KRT6C120.9699115044247851169552865918, 52865925, 52867187-52867193, 52867257-52867263, 52867457-52867491
136KRT6A120.9876106194690321169552886638-52886644, 52886708-52886714, 52886823-52886829
137RDH5120.982236154649951795756114979, 56115017-56115026, 56115604-56115609
138RPS26120.99712643678161134856436258
139TMPO120.9942446043165512208598909849-98909850, 98909882-98909891
140UNG120.9734607218683725942109535506-109535530
141MMAB120.997343957503322753109998860-109998861
142TRPV4120.9980886850152952616110246228, 110246231-110246234
143ATXN2120.832572298325726603942111891495, 111926394, 112036588-112036594, 112036602-112037162, 112037185-112037223, 112037248-112037284, 112037305-112037318
144HNF1A120.96571729957806651896121416622-121416629, 121435426-121435430, 121437379-121437417, 121438901-121438913
145HPD120.96023688663283471182122284784-122284785, 122284790, 122285014-122285022, 122286939-122286956, 122287648-122287664
146PUS1120.913551401869161111284132414271-132414307, 132414462-132414463, 132414478, 132414505-132414543, 132425974, 132426003-132426007, 132426062-132426087
147SACS130.9993449781659491374023949258, 23949264, 23949269-23949275
148B3GALTL130.987307949231819149731774222-31774224, 31774249-31774264
149FREM2130.9975814931650923951039261628-39261639, 39261832, 39261843-39261852
150RB1130.997488338715467278748878058-48878060, 48878137-48878140
151RNASEH2B130.99361022364217693951484213-51484217, 51484259
152ATP7B130.9945429740791324439852508952-52508957, 52508966-52508969, 52509099-52509105, 52509823-52509824, 52511612-52511614, 52513258-52513259
153ZIC2130.717323327079424521599100634353-100634411, 100634446, 100634449, 100634521-100634561, 100634578-100634625, 100634681-100634693, 100634708-100634758, 100634820, 100634824, 100634829, 100634842, 100635008-100635013, 100635050-100635052, 100635186-100635194, 100637306-100637321, 100637634-100637683, 100637693-100637767, 100637780-100637804, 100637826-100637875
154PCCA130.99268404206676162187101101506-101101521
155COL4A1130.98842315369261585010110959298-110959327, 110959341, 110959346-110959371, 110959374
156F7130.420973782771547731335113760156-113760219, 113765012-113765060, 113765081-113765137, 113765160-113765164, 113768218, 113768264-113768274, 113769974-113770105, 113771851-113771910, 113772727, 113772731, 113772739-113772823, 113772856-113772871, 113772893-113772975, 113772988, 113773000-113773005, 113773020, 113773031-113773081, 113773115-113773127, 113773143-113773179, 113773196-113773215, 113773228-113773275, 113773285-113773315
157F10130.912747102931151281467113777170-113777172, 113777188, 113777209-113777217, 113777220-113777229, 113777237-113777239, 113798219-113798222, 113798226-113798228, 113798323-113798327, 113798398-113798399, 113803236-113803239, 113803289-113803301, 113803511-113803528, 113803538-113803539, 113803551-113803583, 113803607, 113803621, 113803746-113803753, 113803789, 113803825-113803831
158GRK1130.693262411347525191692114321702-114321781, 114321805-114321836, 114321843-114321872, 114321910-114321930, 114321940-114321978, 114322003, 114322033-114322053, 114322082, 114322100, 114322131-114322184, 114322198-114322214, 114322220-114322247, 114322264-114322266, 114322273-114322303, 114322322-114322330, 114322360-114322385, 114325816-114325821, 114325863-114325869, 114325880-114325883, 114325892-114325898, 114325921-114325971, 114426047-114426094, 114434210, 114436053
159TEP1140.999238964992396788420844009-20844014
160PABPN1140.956568946796964092123790681-23790683, 23790745-23790759, 23790953, 23790957-23790963, 23791016-23791029
161NRL140.969187675070032271424550551-24550567, 24550609, 24550687-24550690
162PCK2140.999479979199171192324572450
163TGM1140.997147514262437245424724246-24724252
164FOXG1140.75918367346939354147029236659-29236970, 29237268, 29237271-29237307, 29237335-29237338
165COCH140.995160314579558165331344176-31344178, 31344270-31344274
166NKX2-1140.9709784411276935120636986815-36986842, 36988380-36988386
167MGAT2140.9888392857142915134450087987-50087988, 50087999-50088000, 50088008, 50088013, 50088018, 50088021, 50088118-50088121, 50088124, 50088133, 50088186
168C14orf104140.90572792362768237251450100602-50100606, 50100677, 50100770-50100775, 50100928-50100942, 50101043-50101044, 50101048-50101050, 50101067, 50101076-50101135, 50101218-50101267, 50101348-50101371, 50101449, 50101452-50101467, 50101479-50101483, 50101546-50101593
169PYGL140.999606918238991254451411118
170GCH1140.881806108897748975355369155-55369158, 55369233-55369250, 55369267-55369275, 55369278-55369285, 55369313-55369347, 55369366-55369380
171VSX2140.9567219152854547108674706419-74706455, 74706468-74706472, 74706621-74706625
172ESRRB140.998690242305172152776957790-76957791
173POMT2140.95428317798491103225377786838-77786879, 77786941-77786985, 77786996-77787011
174GALC140.999514091350831205888459424
175ATXN3140.997237569060773108692537355-92537357
176AMN140.02569750367107213271362103389026-103389068, 103390048-103390166, 103390272-103390289, 103390301, 103390314-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396770, 103396783-103396830, 103396913-103397017
177INF2140.7130666666666710763750105167762-105167769, 105167780, 105167840, 105167865-105167876, 105167888-105167892, 105167903-105167912, 105167938-105168005, 105169540-105169550, 105169646-105169661, 105169757-105169783, 105170253-105170264, 105172408-105172411, 105172491-105172511, 105173326, 105173333-105173340, 105173686, 105173704-105173798, 105173832-105173833, 105173856-105174224, 105174253, 105174270, 105174286-105174324, 105174337-105174339, 105174799-105174800, 105174892-105174924, 105175062-105175069, 105175618-105175619, 105175622, 105175666-105175667, 105175674, 105175957-105175967, 105175997, 105176003, 105176019-105176035, 105176430-105176432, 105176453-105176463, 105177318-105177321, 105177437-105177439, 105177482-105177517, 105178014-105178034, 105178036, 105178819-105178832, 105179173-105179175, 105179178, 105179194, 105179252-105179280, 105179289-105179329, 105179544, 105179560, 105179595-105179615, 105179619-105179645, 105179782-105179786, 105179830-105179843, 105179868-105179878, 105180565, 105180569, 105180580-105180584, 105180596-105180601, 105180605, 105180607, 105180645-105180651, 105180904, 105180911, 105180917-105180920, 105180925, 105180929, 105180933, 105181013-105181014
178NIPA1150.7787878787878821999023048982-23048992, 23049055-23049057, 23049153-23049157, 23049291-23049312, 23086234-23086411
179UBE3A150.999619482496191262825615780
180TRPM1150.999376558603493481231320561-31320563
181CHST14150.85941644562334159113140763413-40763417, 40763424-40763426, 40763451-40763507, 40763521-40763563, 40763569-40763590, 40763596-40763597, 40763642, 40763645-40763647, 40763677-40763695, 40763698, 40763719-40763720, 40763810
182CDAN1150.9782844733984880368443028659, 43028663-43028676, 43028702-43028731, 43028790-43028823, 43029289
183DUOX2150.9969873036367514464745403770-45403783
184GATM150.9701257861635238127245670583-45670584, 45670616-45670651
185MAP2K1150.996615905245354118266679705, 66679763-66679765
186CLN6150.965811965811973293668500491, 68521862-68521892
187HEXA150.9880503144654119159072668078-72668094, 72668206, 72668213
188HCN4150.85575858250277521361273614895-73614912, 73615469-73615474, 73659901-73659917, 73660013-73660052, 73660074, 73660086-73660139, 73660157, 73660164-73660243, 73660255-73660301, 73660321-73660443, 73660466-73660519, 73660532-73660611
189PSTPIP1150.157474020783371054125177310500-77310572, 77310588, 77310807, 77310830-77310872, 77317633-77317659, 77317895, 77317901-77317911, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
190RPS17150.941176470588242440883208732-83208754, 83208780
191POLG150.9970430107526911372089864024-89864028, 89876828-89876833
192MESP2150.9623115577889445119490319770-90319787, 90319872-90319873, 90320135-90320152, 90320161, 90320230-90320233, 90320262, 90320296
193VPS33B150.999460625674221185491550709
194HBZ160.14918414918415365429202909-202928, 202951-202987, 203891-203912, 203927-204095, 204271-204387
195HBM160.9272300469483631426216017-216022, 216044-216049, 216332-216348, 216433-216434
196HBA2160.42191142191142248429222912-222946, 222956-222995, 223005-223006, 223135-223153, 223160-223289, 223299-223309, 223313, 223318-223319, 223491-223492, 223495, 223533, 223543-223545, 223548
197GNPTG160.886710239651421049181401967-1401988, 1402012-1402018, 1402103-1402112, 1402119-1402121, 1402126-1402141, 1402240-1402245, 1402260-1402284, 1402294-1402307, 1412101
198CLCN7160.6141439205955393324181496632-1496660, 1496699-1496712, 1497007-1497017, 1497033-1497087, 1497393-1497496, 1497517-1497531, 1497550, 1497554-1497569, 1497656-1497666, 1497690-1497715, 1498356-1498367, 1498385-1498391, 1498405-1498440, 1498451-1498485, 1498687-1498694, 1498698-1498706, 1498720-1498734, 1498758-1498767, 1498982-1498990, 1499031-1499049, 1499071-1499094, 1499277-1499294, 1499318-1499328, 1500498-1500537, 1500546-1500630, 1500641-1500644, 1500653-1500667, 1501624-1501690, 1502756-1502773, 1502784-1502812, 1502832-1502855, 1502882-1502894, 1503835, 1503868-1503877, 1505143-1505149, 1505217-1505229, 1505754-1505756, 1506137-1506144, 1507331-1507338, 1524866-1524908, 1524913, 1524917-1524920, 1524929-1524973
199IGFALS160.28105590062112138919321840601-1840675, 1840685-1840735, 1840756-1840780, 1840792-1840839, 1840865-1840867, 1840921-1840930, 1840957-1840963, 1840974-1841037, 1841062-1841075, 1841088-1841185, 1841209-1841232, 1841251-1841332, 1841338-1841341, 1841364-1841391, 1841399-1841482, 1841502, 1841532-1841577, 1841597-1841612, 1841615, 1841626-1841643, 1841670, 1841673-1841675, 1841685-1841692, 1841719-1841976, 1841985-1841991, 1842000, 1842028-1842035, 1842046-1842155, 1842173-1842179, 1842206-1842293, 1842317-1842326, 1842330-1842402, 1842417-1842516, 1843638-1843653
200GFER160.506472491909393056182034220-2034301, 2034307-2034370, 2034376-2034466, 2034751-2034770, 2034778, 2034832, 2034835, 2034867-2034869, 2034905-2034915, 2035899-2035909, 2035953-2035955, 2035987-2036003
201TSC2160.36910029498525342254242098617-2098636, 2098712, 2098732-2098733, 2098739, 2100416, 2100436, 2103343-2103352, 2103371-2103442, 2104297-2104305, 2106213-2106215, 2108768-2108811, 2110671-2110673, 2110699-2110704, 2110782-2110804, 2111872-2111887, 2111984, 2112498-2112521, 2112526, 2112981-2112985, 2112990, 2112993, 2114321, 2114381, 2114385-2114426, 2115571, 2115584-2115591, 2115610-2115636, 2120457-2120462, 2120466-2120472, 2120487, 2120498-2120500, 2120505, 2120560-2120573, 2120578, 2121511-2121526, 2121550, 2121554, 2121558, 2121565, 2121580, 2121598-2121617, 2121785-2121853, 2121863-2121873, 2121894-2121907, 2121912-2121935, 2122242-2122260, 2122281-2122311, 2122327-2122364, 2122859, 2122881-2122883, 2122900-2122941, 2124201-2124237, 2124262-2124298, 2124307, 2124317-2124332, 2124357-2124390, 2125800, 2125804, 2125812-2125838, 2125845, 2125868-2125893, 2126090-2126112, 2126124, 2126133-2126136, 2126154-2126171, 2126492-2126532, 2126542-2126586, 2127599-2127652, 2127658-2127727, 2129033-2129115, 2129141-2129197, 2129277-2129417, 2129558-2129613, 2129631-2129670, 2130166-2130176, 2130188-2130189, 2130192, 2130206-2130378, 2131596-2131603, 2131618-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136849, 2136857-2136872, 2137864-2137942, 2138051-2138140, 2138228-2138259, 2138271, 2138274-2138300, 2138309-2138326, 2138447-2138611
202PKD1160.0006970260223048112903129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2143828, 2143831, 2143839-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
203ABCA3160.9131964809384244451152327598-2327626, 2327946, 2328327-2328349, 2328402-2328422, 2328975-2328999, 2329118-2329131, 2331032-2331035, 2331140, 2331156, 2331212-2331213, 2331218, 2331430-2331432, 2331506-2331510, 2333204-2333230, 2333310, 2333335-2333336, 2333352-2333355, 2334306, 2334352-2334353, 2334362, 2334431, 2334434-2334436, 2334791, 2334962-2334986, 2334997-2334999, 2335443-2335457, 2335583, 2336799, 2338045, 2338059-2338060, 2338081-2338084, 2338209, 2338291, 2339556, 2342147, 2345600-2345601, 2345729, 2345733, 2347330-2347334, 2347363-2347364, 2347374, 2347384-2347439, 2347471-2347473, 2347505-2347513, 2347789, 2347808-2347812, 2347885-2347894, 2348387-2348419, 2348505, 2348524-2348541, 2349454, 2349486-2349508, 2350006-2350009, 2350017, 2350060-2350071, 2354106-2354111, 2354150, 2358610-2358613, 2367745, 2369590, 2369595-2369603, 2369658, 2369686-2369688
204MEFV160.982949701619784023463293631-3293634, 3304463, 3304509-3304536, 3304610-3304613, 3304696, 3306567-3306568
205SLX4160.9740236148955514355053632377, 3632506-3632548, 3639024, 3639364-3639370, 3639458-3639502, 3639644-3639662, 3639714, 3639771-3639776, 3639782, 3639880, 3642816, 3647534-3647537, 3647894-3647906
206CREBBP160.9143130031382262873293777744-3777764, 3777787-3777828, 3778041, 3778045-3778051, 3778066-3778068, 3778099, 3778104, 3778132-3778166, 3778299-3778300, 3778303-3778307, 3778327-3778335, 3778364-3778366, 3778382-3778430, 3778439-3778454, 3778595-3778596, 3778602, 3778645-3778646, 3778671-3778675, 3778678-3778683, 3778686, 3778752-3778797, 3778844, 3778854-3778893, 3778920-3778961, 3778983-3779021, 3779070-3779081, 3779084, 3779108-3779143, 3779190-3779194, 3779199-3779218, 3779327-3779348, 3779354-3779387, 3779412-3779415, 3779442, 3779459-3779519, 3779676-3779721, 3929842-3929847
207GLIS2160.3898412698412796115754382288-4382310, 4382340-4382347, 4382352, 4382369, 4382386-4382389, 4382396-4382399, 4382406-4382410, 4382437-4382450, 4383352-4383358, 4383399-4383437, 4384802-4384840, 4384849-4384856, 4384868, 4384873-4384874, 4384941, 4384944, 4384951-4384954, 4384966-4384978, 4385061-4385076, 4385089, 4385101, 4385138, 4385141-4385161, 4385167-4385170, 4385183-4385185, 4385276-4385280, 4385306, 4385313, 4385333-4385337, 4385341-4385347, 4385389-4385394, 4386726-4386751, 4386760, 4386774-4386804, 4386810-4386842, 4386869-4386907, 4386919-4386949, 4386955-4387331, 4387350-4387525
208ALG1160.8939068100358414813955128826-5128832, 5128839, 5128844, 5128860-5128869, 5130969-5130999, 5131044, 5132626-5132664, 5134751-5134754, 5134774, 5134806-5134846, 5134871-5134882
209ABAT160.993346640053231015038858659-8858660, 8873353-8873360
210MYH11160.999831649831651594015847344
211ABCC6160.92508865248227338451216255312-16255316, 16255404-16255410, 16255413, 16256882-16256901, 16257007-16257028, 16259491-16259542, 16259554-16259598, 16259620-16259625, 16263503-16263536, 16263551-16263555, 16263561-16263564, 16263568, 16263617-16263628, 16263692-16263710, 16267164-16267208, 16267216-16267257, 16269788-16269792, 16269804, 16315633-16315642, 16317272, 16317280
212OTOA160.9923976608187126342021747694-21747700, 21768515-21768533
213OTOA160.980923694779121999622584655-22584673
214SCNN1B160.999479979199171192323392071
215COG7160.995676610462610231323403701-23403709, 23436151
216TUFM160.998538011695912136828857409-28857410
217ATP2A1160.9933466400532320300628898519-28898522, 28898529-28898532, 28898871-28898880, 28898925, 28898986
218PHKG2160.9549549549549555122130760142-30760187, 30760228-30760236
219FUS160.994307400379519158131195681, 31195684, 31195688-31195693, 31196439
220SLC5A2160.9722634967805856201931498720-31498721, 31499943-31499958, 31500043-31500060, 31500290-31500304, 31500347-31500351
221NOD2160.9929554915145722312350745067-50745075, 50745436-50745442, 50745840, 50745851-50745854, 50746055
222SALL1160.9962264150943415397551175656-51175664, 51175670-51175674, 51185081
223CNGB1160.998402555910546375658001035-58001040
224TK2160.968614718614722992466583959-66583986, 66584087
225HSD11B2160.811986863711229121867465152-67465331, 67465347-67465353, 67465367-67465371, 67465376-67465393, 67465398-67465416
226LCAT160.76795162509448307132367973827-67973830, 67973873-67973899, 67973952-67974009, 67974032-67974058, 67974095-67974110, 67974154-67974161, 67974226-67974250, 67976285-67976288, 67976375-67976376, 67976462-67976488, 67976574-67976598, 67976621-67976631, 67976766-67976773, 67976856, 67976878-67976879, 67976973-67976993, 67977066-67977072, 67977100-67977115, 67977861-67977870, 67977904, 67977977-67977983
227CDH3160.9887550200803228249068679639-68679641, 68679644, 68719130-68719134, 68721447, 68721597-68721601, 68721628-68721632, 68725699-68725706
228CDH1160.9864099660249236264968771319-68771323, 68771337, 68771343-68771364, 68772252-68772255, 68856069-68856072
229COG8160.92822185970636132183969364742-69364746, 69364752-69364779, 69364801-69364808, 69364815-69364816, 69364819, 69364846-69364852, 69364952, 69373178, 69373181, 69373207-69373233, 69373250-69373253, 69373263, 69373304-69373331, 69373371-69373388
230AARS160.9944960440316516290770292006-70292021
231HP160.9369369369369477122172092154-72092209, 72092221-72092237, 72093017, 72093029-72093030, 72093033
232GCSH160.888888888888895852281129736-81129752, 81129759-81129786, 81129817, 81129829-81129831, 81129842-81129843, 81129867-81129873
233GAN160.998885172798222179481348719, 81348739
234MLYCD160.79284750337382307148283932762-83932779, 83932793-83932886, 83932900, 83932906, 83932916-83932960, 83932975-83933010, 83933021, 83933042, 83933047-83933065, 83933084, 83933088-83933139, 83933154-83933155, 83933166-83933171, 83933180-83933204, 83933235-83933239
235FOXF1160.9289473684210581114086544209-86544223, 86544260-86544296, 86544557, 86544591, 86544710, 86544713, 86544876, 86544921-86544928, 86544960-86544975
236FOXC2160.57436918990704641150686600942-86600956, 86600985, 86601004-86601017, 86601091-86601104, 86601188-86601194, 86601263-86601269, 86601341, 86601353-86601383, 86601400-86601417, 86601431-86601432, 86601441-86601457, 86601494-86601543, 86601555-86601597, 86601617-86601664, 86601676-86601682, 86601690-86601746, 86601777-86601821, 86601828-86601838, 86601860-86601907, 86601919-86601925, 86601966-86601973, 86601976-86601988, 86601999-86602011, 86602050-86602095, 86602153-86602217, 86602253-86602285, 86602364-86602366, 86602429-86602445
237JPH3160.75122385402759559224787636885-87636898, 87636911-87636921, 87636970-87636980, 87637109-87637113, 87637122-87637127, 87678140, 87717799-87717823, 87723262-87723381, 87723393-87723412, 87723428-87723445, 87723465-87723481, 87723492, 87723497, 87723503, 87723508-87723510, 87723516-87723525, 87723539-87723542, 87723579-87723680, 87723701-87723703, 87723726-87723740, 87723751-87723788, 87723835, 87723839, 87723880-87723885, 87723894, 87723897, 87723910-87723924, 87723927-87723951, 87723964, 87723968, 87723971-87724027, 87724088-87724101, 87724108-87724113, 87724127-87724130
238CYBA160.3112244897959240558888709761-88709979, 88712524-88712550, 88712570-88712605, 88713163-88713205, 88713218, 88713243-88713246, 88713533-88713550, 88713559, 88714453, 88714492-88714507, 88714511-88714514, 88717364-88717389, 88717413-88717421
239APRT160.1565377532228445854388876106-88876150, 88876160-88876172, 88876190-88876197, 88876204-88876210, 88876220-88876246, 88876478-88876556, 88876831-88876964, 88877958, 88877992-88877995, 88878005-88878064, 88878228-88878307
240GALNS160.72594008922881430156988880847-88880853, 88880863-88880906, 88880932-88880933, 88884417-88884498, 88884509, 88884524-88884532, 88888997-88889003, 88889029-88889039, 88889055-88889077, 88889094-88889118, 88891176-88891182, 88891201, 88891240, 88891255-88891269, 88893116, 88893129, 88893180, 88893183, 88893190, 88893196-88893197, 88893200, 88893245, 88904058-88904063, 88907400-88907408, 88907423-88907424, 88907433-88907448, 88908317-88908340, 88908377-88908379, 88909115, 88909145-88909148, 88909175, 88923166-88923285
241SPG7160.9794807370184349238889574829-89574830, 89574893-89574903, 89574931-89574951, 89574987-89574997, 89576898, 89623499-89623501
242FANCA160.96565934065934150436889836358-89836361, 89837018, 89837021, 89837027-89837037, 89842161-89842190, 89880994-89881007, 89882285, 89882316-89882328, 89882379-89882394, 89882945-89882996, 89883017-89883023
243TUBB3160.61271249076127524135389989810-89989816, 89989822-89989866, 89998980-89999007, 89999049-89999052, 89999087, 89999880-89999887, 90001306-90001315, 90001362-90001370, 90001409-90001437, 90001465-90001487, 90001560-90001604, 90001630-90001636, 90001661-90001749, 90001757-90001787, 90001794-90001828, 90001861-90001911, 90001960, 90001970, 90001990-90002010, 90002013-90002020, 90002023, 90002035-90002039, 90002042, 90002051-90002079, 90002128-90002129, 90002144, 90002149-90002153, 90002182-90002208
244CTNS170.7464671654197830512033559781-3559798, 3559858-3559875, 3559970-3559999, 3560014-3560036, 3560049-3560086, 3561299-3561310, 3561345-3561353, 3561388-3561396, 3561464, 3563152-3563167, 3563176, 3563190-3563247, 3563530-3563532, 3563554-3563555, 3563559, 3563582-3563644, 3563915-3563916, 3563939
245CHRNE170.938596491228079114824802031-4802036, 4802186, 4802307-4802330, 4802355-4802367, 4802582-4802586, 4802609-4802630, 4802636, 4802668-4802672, 4804431-4804438, 4804469-4804474
246PITPNM3170.9223931623931622729256358658-6358699, 6358708-6358742, 6358762-6358813, 6358826-6358847, 6358873-6358892, 6358922-6358928, 6358942, 6358948, 6358956-6358963, 6374491-6374495, 6374500, 6374507-6374509, 6374514, 6374518-6374524, 6459705-6459726
247ACADVL170.972560975609765419687123313, 7123321, 7123325-7123326, 7123330, 7123458-7123486, 7123498-7123516, 7128278
248CHRNB1170.992695883134131115067348622-7348625, 7348631-7348637
249GUCY2D170.9535024154589415433127906367-7906399, 7906476-7906486, 7906496, 7906511-7906527, 7906598-7906606, 7906654-7906731, 7906734, 7906745-7906748
250ALOX12B170.99905033238367221067982758-7982759
251HES7170.90855457227139626788024964-8025009, 8025019-8025026, 8025101-8025108
252ELAC2170.9899234179766225248112899020-12899031, 12899886-12899894, 12906812-12906815
253FLCN170.963218390804664174017117057-17117075, 17119779, 17125903-17125912, 17127287-17127288, 17131208, 17131232-17131262
254RAI1170.9092815941269519572117696476, 17696769-17696776, 17696828, 17696954-17696955, 17696997, 17697094-17697105, 17697117-17697127, 17697479-17697485, 17697554-17697566, 17697612, 17697615-17697637, 17697853, 17697892-17697899, 17698046-17698083, 17698163-17698178, 17698217-17698229, 17698511-17698518, 17698676, 17698730-17698745, 17698792-17698812, 17698823-17698859, 17699091, 17699172-17699175, 17699198-17699210, 17699272-17699300, 17699370-17699382, 17699390, 17699394, 17699405-17699406, 17699437-17699465, 17699563-17699588, 17699626-17699634, 17699741-17699752, 17699826-17699833, 17699874-17699892, 17699993-17699995, 17700005-17700012, 17700941-17700943, 17701208-17701211, 17701255, 17701258-17701267, 17701516, 17701531, 17701542-17701576, 17701601-17701617, 17701740-17701743, 17701783-17701784, 17701808-17701810, 17701815-17701818, 17701822-17701824, 17707084-17707085, 17713284-17713295
255MYO15A170.950155763239885281059318022604, 18023289-18023303, 18023450, 18023645-18023646, 18023837-18023841, 18023884-18023907, 18023911, 18023969-18023976, 18023993, 18024002-18024003, 18024013-18024055, 18024061-18024081, 18024086, 18024132-18024135, 18024140-18024144, 18024153, 18024198-18024243, 18024266, 18024324-18024341, 18024360-18024443, 18024454-18024464, 18024492, 18024528-18024536, 18024583-18024630, 18024644-18024684, 18024724-18024761, 18024815-18024816, 18025055-18025070, 18025101, 18025322-18025323, 18045405-18045413, 18045473, 18045481-18045488, 18045539-18045543, 18046913-18046917, 18046920, 18057139, 18057198-18057202, 18061107-18061109, 18061164, 18070944-18070968, 18070972-18070982
256UNC119170.940525587828494372326879371-26879400, 26879478-26879490
257NEK8170.9966329966337207927066109-27066110, 27067987-27067989, 27067993-27067994
258SLC6A4170.9936608557844712189328543182-28543193
259HNF1B170.9916367980884114167436104565, 36104815-36104827
260TCAP170.968253968253971650437822063-37822078
261KRT10170.99943019943021175538978536
262KRT14170.9816772374911926141939739509-39739515, 39741304-39741309, 39742642-39742648, 39742850-39742852, 39742988-39742990
263KRT16170.9303797468354499142239766280-39766281, 39768489-39768496, 39768706-39768746, 39768808-39768855
264KRT17170.74056966897614337129939776809-39776810, 39776922-39776923, 39776937, 39776943-39776945, 39776955-39777028, 39777974-39778004, 39779256-39779284, 39780364-39780399, 39780473-39780499, 39780519-39780520, 39780525-39780526, 39780542-39780574, 39780589, 39780621-39780669, 39780687-39780730, 39780761
265FKBP10170.9462550028587894174939969344-39969345, 39969391, 39969399, 39969509-39969511, 39974368-39974406, 39974504-39974506, 39974642, 39974686-39974710, 39974734-39974742, 39975543, 39975884-39975886, 39977260-39977263, 39977269, 39978500
266STAT5B170.9796954314720848236440370741-40370766, 40371405-40371406, 40371410, 40371445-40371447, 40371731-40371744, 40376847, 40384085
267NAGLU170.9892473118279624223240688370-40688376, 40688382-40688385, 40688410-40688411, 40688423-40688431, 40688529-40688530
268WNK4170.990889603429834373240932838-40932864, 40932886, 40932890-40932891, 40932913-40932915, 40932918
269NAGS170.958255451713467160542082162-42082163, 42082201, 42082236, 42082292-42082303, 42082326-42082335, 42082349-42082355, 42082358-42082362, 42083079-42083086, 42083411-42083417, 42083478-42083480, 42083484-42083489, 42083502-42083503, 42083508, 42083590, 42084043
270GRN170.87317620650954226178242426569-42426573, 42426576, 42426651-42426670, 42427832-42427838, 42427926, 42428427, 42428816-42428822, 42428937, 42428994, 42429122-42429123, 42429427-42429449, 42429513, 42429533-42429577, 42429601, 42429709-42429745, 42429828, 42429832-42429836, 42429878, 42429891-42429926, 42430032-42430054, 42430071, 42430075, 42430104-42430105, 42430121-42430123
271ITGA2B170.86794871794872412312042452122, 42452376-42452378, 42452406, 42452462-42452469, 42452978, 42453065, 42453072-42453080, 42453350-42453353, 42453710, 42454401, 42455134-42455142, 42457481-42457487, 42457497-42457503, 42460861-42460890, 42460900-42460994, 42461015, 42461018-42461026, 42461262-42461275, 42461292-42461314, 42461453-42461499, 42461703, 42461708, 42461715-42461718, 42461906-42461907, 42461935-42461953, 42462332-42462338, 42462662-42462676, 42462679, 42462701-42462703, 42462919-42462927, 42463005, 42463024, 42463027, 42463047-42463071, 42463212-42463221, 42463228-42463230, 42463463-42463499
272GFAP170.997690531177833129942992814-42992816
273PLEKHM1170.9930621255124622317143552537, 43552858-43552877, 43552921
274WNT3170.9887640449438212106844851070-44851081
275ITGB3170.997887621461775236745331230-45331234
276COL1A1170.9881683731513152439548262897, 48262904-48262907, 48263194, 48265487-48265510, 48266808-48266829
277MKS1170.99523809523818168056283826-56283828, 56283834-56283838
278TRIM37170.996891191709849289557105881-57105888, 57105919
279CA4170.985090521831741493958227400, 58227425-58227436, 58227439
280ACE170.97296608008161106392161554458-61554533, 61554564-61554586, 61554658-61554664
281TACO1170.99888143176734189461678453
282GH1170.98776758409786865461995211-61995217, 61995262
283SCN4A170.9941934313191832551162018163, 62018410-62018427, 62019103-62019106, 62019110, 62019290-62019297
284AXIN2170.9940758293838915253263532581-63532595
285COG1170.9925246347264722294371189279-71189289, 71189395-71189401, 71189435, 71189438, 71189450, 71189457
286USH1G170.74675324675325351138672915556-72915560, 72915592-72915601, 72915704-72915718, 72915761-72915797, 72915873-72915899, 72915954, 72916045-72916091, 72916101-72916150, 72916169-72916216, 72916261-72916271, 72916306, 72916352-72916369, 72916418, 72916427-72916440, 72916458-72916494, 72916621, 72916715, 72916728-72916731, 72919020-72919022, 72919027-72919031, 72919048, 72919120-72919121, 72919125, 72919128-72919138
287TSEN54170.7741935483871357158173512642-73512697, 73512827-73512860, 73512874, 73512878-73512971, 73512980-73512991, 73513090-73513132, 73513151-73513153, 73513314, 73517957, 73518002-73518022, 73518150-73518168, 73518226, 73518270-73518289, 73518295-73518303, 73518320, 73518352, 73518371-73518410
288ITGB4170.91680380325471455546973720847-73720848, 73726410, 73726479-73726489, 73726548-73726585, 73726984-73726990, 73736041-73736045, 73739818-73739827, 73744922-73744924, 73746877-73746903, 73747099-73747111, 73748364-73748372, 73748426-73748437, 73748543-73748544, 73748612-73748615, 73749855-73749889, 73749942-73749980, 73750018-73750022, 73750053-73750055, 73750657-73750665, 73751782, 73751793-73751795, 73751813, 73751828-73751841, 73751879-73751923, 73752798-73752845, 73752869-73752881, 73752916-73752919, 73753025-73753035, 73753067, 73753071, 73753082-73753104, 73753157-73753166, 73753288-73753295, 73753350, 73753386-73753391, 73753497-73753517, 73753552, 73753561, 73753601-73753607
289GALK1170.87616624257846146117973754137-73754140, 73754151-73754190, 73754313-73754335, 73754340, 73754530-73754559, 73754597-73754631, 73758841-73758844, 73761177, 73761210-73761217
290UNC13D170.80751604032997630327373824146, 73824149-73824152, 73824929-73824944, 73825006-73825009, 73825049-73825060, 73826215-73826232, 73826451-73826461, 73826514-73826525, 73826662, 73826703-73826710, 73826713, 73827231, 73827324-73827334, 73827382-73827399, 73830220-73830224, 73830454-73830460, 73830481, 73830484-73830508, 73830515, 73831510-73831538, 73831847-73831855, 73832134-73832190, 73832297-73832334, 73832432-73832433, 73832653-73832671, 73832696-73832703, 73832733-73832777, 73832990-73832999, 73836112, 73836115-73836137, 73838534, 73838541-73838542, 73838663-73838682, 73838938-73838946, 73838991-73838998, 73839002, 73839105-73839140, 73839240-73839265, 73839279-73839312, 73839567-73839593, 73840302-73840323, 73840354-73840399
291ACOX1170.995965708522448198373975053-73975060
292SEPT9170.64565587734242624176175398386, 75398715, 75478226-75478228, 75478243, 75478262-75478327, 75478350-75478382, 75478392-75478400, 75483506-75483530, 75483552-75483634, 75484328-75484384, 75484809-75484876, 75484893-75484946, 75486824-75486869, 75486926-75486941, 75488704, 75488720-75488725, 75488736-75488737, 75488788-75488798, 75489062-75489065, 75493432, 75493443-75493444, 75494605-75494608, 75494611-75494740
293GAA170.85659321441063410285978078471-78078479, 78078490-78078501, 78078531-78078557, 78078599-78078647, 78078696-78078718, 78078730-78078731, 78078736-78078741, 78078803-78078811, 78078865-78078869, 78079660, 78081643-78081648, 78082089-78082125, 78082320, 78082381, 78082497, 78082504, 78082520-78082521, 78082531, 78082570-78082627, 78083757-78083763, 78084570-78084571, 78084608-78084609, 78084777-78084805, 78084808, 78086408-78086409, 78086435-78086468, 78086475-78086479, 78086722-78086767, 78087164-78087165, 78090881-78090897, 78091508, 78092031, 78092047-78092052, 78092152-78092155
294SGSH170.9821073558648127150978194065-78194091
295ACTG1170.80939716312057215112879477815-79477859, 79477954-79477957, 79477967-79477974, 79478006-79478010, 79478094, 79478336, 79478397-79478422, 79478499, 79478511-79478527, 79478546, 79478646, 79478978, 79478990, 79478993, 79479259-79479345, 79479366-79479380
296FSCN2170.119675456389451302147979495558-79495714, 79495723-79495727, 79495734-79495862, 79495870-79495879, 79495885-79496061, 79496068-79496100, 79496114-79496168, 79496179-79496293, 79496308-79496383, 79502085-79502128, 79502135-79502136, 79502166-79502173, 79502199-79502219, 79503172-79503227, 79503239-79503265, 79503281-79503293, 79503648-79503815, 79503901-79504106
297AFG3L2180.96867167919875239412376968-12376992, 12376996, 12377001, 12377012-12377059
298MC2R180.99217002237136789413884639-13884645
299NPC1180.9971331769611711383721123533, 21166266-21166274, 21166280
300LAMA3180.99400119976005601000221269648, 21269660-21269673, 21269689-21269701, 21269751-21269774, 21269795-21269801, 21293884
301DSC3180.997770345596436269128622612-28622617
302DSC2180.997413155949747270628681910-28681916
303DSG2180.996425379803412335729078215-29078222, 29078230-29078233
304LOXHD1180.9965340566606423663644104516-44104538
305ATP8B1180.997603833865819375655315849-55315857
306RAX180.998078770413062104156936290-56936291
307CCBE1180.9590499590499650122157134018, 57134024, 57134046-57134051, 57134074-57134111, 57364498-57364501
308TNFRSF11A180.9643435980551166185159992586-59992651
309CTDP1180.91580041580042243288677439948-77440080, 77440116, 77440128, 77440134, 77440149-77440227, 77440237-77440239, 77440246, 77457978-77457983, 77496457-77496469, 77513721-77513725
310ELANE190.29850746268657564804852330-852347, 852876-852960, 852981-853032, 853262-853372, 853378, 853381, 855564-855565, 855580-855610, 855617-855733, 855736-855747, 855962-856043, 856053-856056, 856062-856064, 856120-856164
311KISS1R190.85463659147871741197917584-917624, 918621-918659, 919985-919986, 920047-920048, 920106, 920302-920331, 920342-920390, 920482, 920558-920559, 920637-920642, 920648
312STK11190.3709677419354881913021206987-1206997, 1207019-1207055, 1218464-1218478, 1219348-1219355, 1219359-1219363, 1219379-1219412, 1220380-1220500, 1220580-1220624, 1220633-1220689, 1220709-1220716, 1221212-1221281, 1221301-1221339, 1221948-1221999, 1222996-1223101, 1223111-1223117, 1223124-1223171, 1226463-1226506, 1226535-1226646
313NDUFS7190.538940809968852966421383926-1383941, 1387827, 1387830, 1387846, 1388524-1388549, 1388561-1388584, 1388874-1388875, 1388902-1388905, 1388931, 1390870-1390909, 1391137, 1391149, 1393241-1393313, 1393323-1393329, 1395390-1395487
314GAMT190.597530864197533268101398720-1398731, 1398740-1398752, 1398775-1398789, 1398839-1398858, 1398879-1398905, 1398943-1398978, 1398994-1399007, 1399175-1399182, 1399523-1399527, 1399828-1399873, 1399895-1399925, 1399932, 1399935-1399936, 1401318-1401352, 1401373-1401408, 1401415, 1401452-1401475
315RAX2190.29729729729733905553770619-3770621, 3770629, 3770633, 3770643-3770698, 3770712-3770720, 3770747-3770748, 3770755-3770771, 3770774-3770787, 3770819-3770856, 3770881-3770944, 3770954-3770957, 3771533-3771567, 3771575-3771675, 3771696-3771740
316MAP2K2190.7132169576059934512034090596-4090640, 4090651-4090687, 4094451-4094496, 4095386, 4095402-4095412, 4097303-4097306, 4097314-4097341, 4099204, 4099209-4099211, 4099215, 4099218-4099235, 4099238, 4099281, 4099291, 4099310-4099313, 4101103, 4101117, 4102442-4102451, 4110591-4110608, 4117422, 4117503, 4117570-4117582, 4117596, 4117609-4117613, 4123781-4123872
317NDUFA11190.97183098591549124265903626-5903636, 5903646
318C3190.9693509615384615349926697709, 6697796-6697797, 6697803, 6707119-6707120, 6707146-6707155, 6707182-6707199, 6707235, 6707246-6707284, 6707934-6707936, 6709726-6709741, 6709823-6709829, 6713506-6713517, 6714004-6714044
319INSR190.959026271390717041497122741-7122746, 7128939, 7132216-7132217, 7132223, 7132308-7132328, 7142855-7142860, 7150530, 7152776-7152854, 7163050-7163054, 7174605-7174611, 7174670-7174675, 7293830-7293840, 7293846-7293849, 7293860, 7293870-7293888
320MCOLN1190.990820424555361617437587651-7587657, 7598502-7598506, 7598517-7598520
321PNPLA6190.9588353413654616439847614833, 7614986-7614997, 7615212-7615222, 7615269-7615272, 7615275-7615299, 7615406-7615412, 7615506-7615508, 7615510, 7615880-7615884, 7615906-7615974, 7616248-7616273
322ADAMTS10190.993357487922712233128649820-8649825, 8650487, 8654368, 8669931, 8670027-8670031, 8670096-8670103
323TYK2190.77805836139169791356410461766-10461785, 10463113, 10463117-10463151, 10463163-10463184, 10463602-10463611, 10463622-10463627, 10463638-10463659, 10463681-10463774, 10464204-10464224, 10464234-10464322, 10464745-10464774, 10464793-10464828, 10465210-10465220, 10465242-10465285, 10468447-10468479, 10468531, 10468571, 10468585, 10468691-10468701, 10468750-10468760, 10468777-10468814, 10469852, 10469855, 10469867-10469886, 10469915, 10469922-10469927, 10469959, 10469965-10469978, 10473227-10473234, 10475321, 10475328, 10475348, 10475361-10475364, 10475412-10475419, 10475674, 10475704-10475708, 10476238, 10476284, 10476291-10476309, 10476342, 10476384-10476390, 10476410-10476449, 10476504-10476505, 10476518, 10477203, 10488905-10488944, 10488985-10488986, 10489000, 10489012-10489049, 10489056-10489082
324DNM2190.95943360122465106261310922944-10922980, 10923005-10923053, 10941654-10941672, 10941700
325LDLR190.9775454897406158258311215960-11215966, 11221418, 11223989-11224030, 11224255-11224261, 11226852
326PRKCSH190.997479521109014158711547295, 11558341-11558343
327MAN2B1190.9808959156785258303612767856-12767860, 12768278-12768313, 12768327, 12768338-12768353
328GCDH190.994684889901297131713002150, 13006868-13006870, 13006876-13006878
329CACNA1A190.94216194654966435752113318200-13318222, 13318280-13318281, 13318291-13318307, 13318357-13318359, 13318369-13318381, 13318404-13318414, 13318468-13318516, 13318543-13318549, 13318559-13318602, 13318622-13318635, 13318646-13318726, 13318791-13318820, 13319577-13319579, 13319606-13319616, 13319692-13319696, 13409591, 13409840-13409851, 13409856-13409859, 13409871-13409883, 13409889-13409906, 13616895-13616917, 13616943-13616960, 13616978-13617003, 13617018-13617024
330NOTCH3190.95492391616423314696615302352-15302353, 15302356-15302369, 15302376, 15302426-15302432, 15302468, 15302647-15302666, 15302865-15302901, 15302947-15302948, 15302954-15303005, 15303018-15303023, 15303038, 15303082-15303091, 15303199-15303204, 15303241-15303257, 15303275-15303321, 15311599-15311612, 15311622-15311691, 15311699, 15311711-15311716
331JAK3190.94340740740741191337517940917-17940990, 17941017-17941027, 17950352-17950355, 17953148-17953170, 17953200-17953217, 17953245-17953271, 17953314-17953323, 17953356-17953366, 17953868-17953876, 17953904-17953907
332SLC5A5190.9782608695652242193217983254, 17984947-17984954, 17984962-17984974, 17986761-17986772, 17994520, 17994744-17994750
333IL12RB1190.997486173956765198918180455, 18197574, 18197577-18197579
334COMP190.80562884784521442227418893987-18893994, 18893997, 18895004, 18895010, 18896337-18896356, 18896519-18896555, 18896620-18896658, 18896785, 18896818-18896825, 18896845-18896847, 18896882, 18899021-18899035, 18899078, 18899240-18899256, 18899401-18899428, 18899456-18899494, 18899534, 18899984-18900032, 18900052-18900099, 18900105-18900106, 18900751-18900770, 18900783-18900827, 18900855-18900856, 18900865, 18900883-18900909, 18900916, 18901385, 18901663, 18901684-18901691, 18901744, 18902060-18902074
335CEBPA190.25998142989786797107733792244-33792260, 33792293-33792321, 33792356, 33792369-33792388, 33792415-33792430, 33792486-33792505, 33792513-33792545, 33792581-33792648, 33792654-33792809, 33792828, 33792839-33792843, 33792846-33792884, 33792897-33792956, 33792962-33793074, 33793081-33793088, 33793110-33793320
336SCN1B190.950433705080554080735521725-35521764
337MAG190.9170653907496156188135786516-35786518, 35786547-35786562, 35790490, 35790516-35790522, 35790531-35790540, 35790571-35790579, 35790627-35790637, 35790699-35790700, 35790715-35790753, 35791091-35791132, 35791145, 35791189-35791190, 35791234-35791245, 35800808
338COX6B1190.99616858237548126136142235
339PRODH2190.9925512104283112161136297966, 36303311-36303320, 36303363
340NPHS1190.9935587761674724372636322620, 36322645, 36335056-36335058, 36335324, 36336619-36336632, 36337090-36337091, 36339247, 36340047
341TYROBP190.5486725663716815333936398129-36398161, 36398364-36398402, 36398472-36398482, 36398632-36398664, 36399070-36399105, 36399108
342SDHAF1190.893678160919543734836486189-36486201, 36486240-36486247, 36486258, 36486266, 36486315-36486324, 36486408-36486411
343RYR1190.962294105973415701511738976661-38976663, 38980065-38980066, 38986898, 38986921-38986927, 38987058-38987065, 38987112-38987113, 38987118-38987119, 38987180-38987181, 38987500, 38987506-38987546, 39055599-39055631, 39055657-39055658, 39055714-39056050, 39056062-39056092, 39056141-39056166, 39056203, 39056208-39056232, 39056266-39056270, 39056315, 39056322-39056335, 39056344, 39056391-39056411, 39075603, 39075612, 39075621, 39075635
344ACTN4190.95614035087719120273639138427, 39138496-39138503, 39138506-39138515, 39138519, 39214680-39214711, 39214950-39214979, 39219996-39220033
345DLL3190.9649973074851965185739993496-39993498, 39993510, 39993537-39993540, 39993559-39993565, 39993588-39993600, 39993669-39993680, 39994738, 39994822, 39997679, 39997839-39997857, 39997916-39997918
346PRX190.9774281805745699438640909613-40909652, 40909677-40909719, 40909742-40909749, 40909759, 40909763-40909769
347TGFB1190.946291560102363117341847791, 41854238, 41854324, 41858718, 41858727, 41858768-41858774, 41858868-41858872, 41858875-41858888, 41858913-41858944
348RPS19190.97945205479452943842364890-42364892, 42373181-42373184, 42375435-42375436
349ATP1A3190.9934747145187624367842471000, 42471005, 42471357-42471378
350ETHE1190.99477124183007476544012099-44012102
351BCAM190.91467938526762161188745312382-45312455, 45322902-45322935, 45323962-45323971, 45323993-45324006, 45324028-45324029, 45324035, 45324055-45324079, 45324178
352APOE190.9979035639413295445412208-45412209
353BLOC1S3190.9359605911333960945682586, 45682692, 45682797, 45682802, 45682823, 45682942-45682951, 45683033-45683041, 45683044, 45683047-45683048, 45683051, 45683071-45683073, 45683106-45683113
354ERCC2190.94918966272449116228345855495-45855504, 45856387-45856390, 45867001-45867012, 45867039-45867058, 45867164-45867169, 45867259, 45867262-45867263, 45867340-45867344, 45867493-45867522, 45867735, 45868101-45868120, 45868126-45868130
355SIX5190.86531531531532299222046268788-46268794, 46268975-46269020, 46269640, 46269657, 46269903-46269904, 46269982, 46270141-46270149, 46270307-46270313, 46270372-46270373, 46271320-46271321, 46271378-46271380, 46271383, 46271445, 46271448, 46271453-46271472, 46271540-46271541, 46271544-46271548, 46271554-46271612, 46271714-46271726, 46271781-46271782, 46271807, 46271818-46271856, 46271871-46271877, 46271881-46271882, 46271896, 46271899-46271911, 46271933, 46272007-46272050, 46272065-46272070
356DMPK190.9587301587301678189046273792-46273798, 46274292-46274295, 46281855-46281859, 46282533-46282542, 46282598, 46285532-46285551, 46285580-46285610
357FKRP190.71908602150538418148847258848-47258855, 47258925-47258955, 47259043-47259080, 47259101, 47259104-47259125, 47259151-47259164, 47259188-47259207, 47259219-47259220, 47259259-47259270, 47259366-47259413, 47259422-47259463, 47259467, 47259505-47259537, 47259558, 47259592-47259680, 47259736-47259755, 47259907-47259924, 47260153-47260170
358DBP190.6431492842535834997849138837-49138993, 49139001-49139064, 49139077-49139096, 49139106-49139112, 49139134-49139143, 49139151-49139214, 49139228-49139232, 49139240-49139247, 49140201-49140211, 49140249-49140251
359BCAT2190.99915182357931117949303509
360GYS1190.9719963866305362221449494559-49494568, 49494629-49494670, 49494727-49494732, 49494737, 49496318, 49496326, 49496345
361MED25190.88725490196078253224450321599, 50321604-50321635, 50321698-50321701, 50321724, 50321727-50321732, 50321828-50321856, 50322437-50322438, 50333152-50333153, 50333772-50333791, 50334073, 50334076-50334095, 50334127-50334138, 50334661-50334670, 50335391, 50335398-50335414, 50338418-50338422, 50338991, 50339047-50339052, 50339144-50339154, 50339178-50339183, 50339187, 50339533-50339559, 50339598-50339615, 50339618, 50339642-50339657, 50340142, 50340174-50340175
362MYH14190.994436262477534611150714020, 50750350, 50753070-50753080, 50758534, 50764804-50764823
363KCNC3190.77704485488127507227450826330, 50826335-50826345, 50826382-50826389, 50826397-50826430, 50831474-50831480, 50831531-50831532, 50831544-50831545, 50831550-50831551, 50831686-50831755, 50831761-50831767, 50831886-50831911, 50831926-50831977, 50831984-50832017, 50832029-50832037, 50832085-50832086, 50832089-50832104, 50832116-50832339
364ETFB190.993275696445737104151857782-51857788
365NLRP12190.96861268047709100318654312915-54312930, 54313067-54313071, 54313336-54313342, 54313586-54313605, 54313658-54313688, 54313813-54313814, 54313905-54313911, 54314017, 54314173-54314176, 54314273, 54314299-54314304
366PRKCG190.9918815663801317209454392969, 54392972, 54401841-54401846, 54409972-54409979, 54410027
367PRPF31190.518723150054621685-54621689, 54621706-54621713, 54621811, 54621975-54621976, 54625292-54625299, 54625940-54625947, 54626909-54626917, 54626923, 54626926-54626927, 54627128-54627174, 54627208, 54627213, 54627910-54627949, 54627956-54627983, 54628001, 54628019, 54628028-54628034, 54629932-54629933, 54629992, 54631448-54631575, 54631680-54631752, 54632432-54632560, 54632647-54632745, 54634738-54634813, 54634819-54634863
368TSEN34190.994640943194593354695362-54695366
369NLRP7190.999678869621071311455450988
370TNNT1190.917617237008876578955644285, 55644288, 55644325, 55645464-55645468, 55652263-55652290, 55652302, 55652314-55652318, 55652321-55652323, 55652598, 55652602, 55652606-55652608, 55652662-55652663, 55658051-55658054, 55658061-55658069
371TNNI3190.908045977011495660955665426, 55665502, 55665510, 55666154-55666193, 55667588, 55667653, 55667689-55667698, 55668468
372TPO20.9122055674518224628021481006-1481034, 1481080-1481114, 1481154-1481155, 1488486, 1520655-1520752, 1544402-1544440, 1544453, 1544463-1544495, 1546230, 1546236-1546242
373RPS720.9948717948717935853623257-3623259
374KLF1120.9727095516569242153910183844-10183885
375MYCN20.994982078853057139516082843-16082849
376MATN320.995208761122527146120212325, 20212336, 20212370-20212374
377APOB20.99883143441426161369221266745-21266747, 21266752-21266761, 21266768, 21266773, 21266798
378HADHA20.999127399650962229226414418, 26414432
379OTOF20.94594594594595324599426687748, 26687787, 26689662, 26695405-26695409, 26697381, 26697385, 26697412-26697459, 26697496, 26697519, 26698996-26699000, 26699054, 26699058-26699060, 26699093-26699126, 26699154-26699183, 26699759-26699775, 26699799-26699829, 26699862-26699899, 26699905-26699911, 26700040-26700042, 26700107-26700142, 26700352-26700359, 26700545-26700556, 26702162-26702172, 26702453, 26702470-26702471, 26703802-26703823, 26707451-26707453
380ALK20.996709849886916486330143484-30143487, 30143490-30143491, 30143496-30143499, 30143506-30143511
381SRD5A220.99868766404199176231805888
382SPAST20.9827120475418732185132289065-32289069, 32289198-32289206, 32289211-32289226, 32289232-32289233
383CYP1B120.93627450980392104163238301985, 38302002-38302016, 38302195-38302196, 38302228-38302238, 38302262-38302287, 38302305-38302312, 38302344-38302355, 38302390, 38302399-38302400, 38302409-38302427, 38302476-38302482
384ABCG520.9923312883435615195644058949-44058962, 44059104
385ABCG820.9797230464886341202244079753, 44079768-44079769, 44099140-44099150, 44099238-44099247, 44099429-44099445
386LRPPRC20.9892473118279645418544222945-44222973, 44223034-44223042, 44223074-44223080
387SIX320.996996996997399945169644-45169646
388MSH220.9960784313725511280547630393-47630403
389MSH620.95273083517022193408348010391-48010412, 48010418-48010445, 48010460-48010583, 48010601, 48010615-48010632
390NRXN120.9923163841807934442551254751-51254753, 51255131-51255153, 51255177, 51255189, 51255355-51255356, 51255406-51255408, 51255411
391SPR20.964376590330792878673114615-73114641, 73114849
392ALMS120.99832053742802211250473613032-73613037, 73679661, 73827996-73828002, 73828339-73828345
393MOGS20.9725536992840169251474688818, 74688904, 74689001-74689012, 74689268-74689270, 74689598, 74689603, 74689608, 74689846-74689853, 74689862, 74689941, 74692135, 74692271, 74692282, 74692285-74692301, 74692345-74692350, 74692362-74692374
394HTRA220.997821350762533137774757252-74757254
395GGCX20.9898989898989923227785787989, 85788022-85788037, 85788516-85788521
396EIF2AK320.9832885705759556335188926606-88926626, 88926637-88926638, 88926730-88926732, 88926747-88926771, 88926777-88926781
397TMEM12720.8340306834030711971796930882-96930911, 96930934-96930957, 96930982, 96931041-96931046, 96931049-96931050, 96931060-96931115
398SNRNP20020.99984401809391641196955057
399RANBP220.952144702842384639675109336122-109336134, 109347853-109347859, 109352000-109352029, 109357110-109357116, 109363167-109363172, 109365376, 109367728-109367757, 109368074-109368110, 109368433, 109368437, 109369543-109369554, 109370398, 109371656-109371687, 109374926-109374972, 109378557-109378566, 109378587-109378628, 109382700-109382706, 109382787-109382793, 109383052-109383058, 109383268-109383289, 109383354-109383360, 109383537-109383577, 109383672-109383682, 109383763-109383806, 109383932-109383938, 109384038-109384054, 109389409-109389423, 109399154
400MERTK20.99533333333333143000112656325-112656332, 112656341-112656346
401GLI220.858013022474276764761121708996-121708999, 121709011, 121712938, 121728142-121728169, 121729587, 121729606-121729623, 121742289-121742291, 121745786, 121745796, 121745835, 121745839-121745852, 121745993-121745996, 121746062, 121746083-121746105, 121746111, 121746131-121746171, 121746181, 121746196-121746233, 121746248, 121746305-121746340, 121746343-121746411, 121746416, 121746422, 121746428, 121746439-121746445, 121746497-121746545, 121746554-121746563, 121746587-121746612, 121746649, 121746652-121746653, 121746657-121746660, 121746664, 121746682, 121746852, 121747013-121747038, 121747048, 121747059, 121747066, 121747071, 121747076, 121747117-121747125, 121747142-121747186, 121747204-121747210, 121747297-121747343, 121747391, 121747395-121747409, 121747429, 121747458-121747459, 121747469-121747486, 121747582-121747608, 121747624-121747671, 121747746, 121747771-121747797, 121747961, 121747964-121747965, 121748010
402BIN120.9994388327721711782127815066
403PROC20.95382395382395641386128178935-128178946, 128180496-128180502, 128180635-128180644, 128180689-128180706, 128180726-128180727, 128180733, 128180737-128180747, 128180917-128180919
404CFC120.71279761904762193672131279608-131279645, 131280363-131280409, 131280440, 131280449-131280477, 131280742, 131280746-131280748, 131280786, 131280807-131280839, 131285304-131285336, 131285353-131285359
405NEB20.99969960949234619974152432755-152432759, 152432844
406CACNB420.9980806142034531563152955510-152955512
407ITGA620.99328449328449223276173292546-173292557, 173292679-173292688
408HOXD1320.96608527131783351032176957654-176957675, 176957705-176957711, 176957800, 176957965-176957969
409AGPS20.99241274658574151977178257583, 178257606, 178257644-178257656
410PRKRA20.99681528662423942179315720-179315722
411CERKL20.9987492182614121599182468620-182468621
412COL3A120.998636673483364401189871665-189871670
413HSPD120.9959349593495971722198361925-198361931
414ALS220.9985926819461274974202580484-202580488, 202593332-202593333
415BMPR220.99005453962143313117203332347-203332360, 203378536-203378552
416NDUFS120.9972527472527562184207017159, 207017180, 207018362-207018365
417WNT10A20.95454545454545571254219757523, 219757529, 219757547, 219757550, 219757554-219757559, 219757564, 219757604-219757638, 219757651, 219757665, 219757864-219757872
418DES20.98372257607926231413220283211-220283232, 220283277
419OBSL120.93955368125113445691220416418, 220417356-220417382, 220417388-220417396, 220417622-220417625, 220417723, 220435259-220435280, 220435513, 220435547-220435569, 220435605-220435724, 220435742-220435764, 220435791-220435796, 220435842-220435849, 220435855-220435953
420COL4A320.9988031119090465013228029443-228029444, 228142236, 228142240, 228163438, 228163449
421SLC19A320.9959758551307861491228563541, 228563985-228563989
422CHRND20.98712998712999201554233390930-233390931, 233393654-233393660, 233394683, 233396071, 233396280-233396286, 233398749, 233399849
423CHRNG20.9948519948519981554233409521-233409528
424SAG20.999178981937611218234243649
425AGXT20.904156064461411131179241808283-241808288, 241808331-241808340, 241808360, 241808364, 241808390-241808406, 241808421-241808425, 241808587-241808613, 241808656-241808659, 241808762-241808779, 241810091-241810109, 241817030-241817034
426D2HGDH20.851851851851852321566242674640-242674659, 242689580-242689614, 242695314-242695319, 242695365, 242695413-242695415, 242695417, 242695420-242695422, 242707180-242707184, 242707193-242707339, 242707354-242707360, 242707370-242707371, 242707383-242707384
427AVP200.39797979797982984953063288-3063413, 3063437-3063441, 3063630-3063726, 3063740, 3063746-3063814
428PANK2200.975481611208414217133870018-3870021, 3870096-3870105, 3870217, 3870223-3870226, 3870232-3870234, 3870237, 3870272-3870289, 3870293
429JAG1200.9816789718348467365710653358-10653388, 10653474-10653481, 10653615, 10653619-10653625, 10654156, 10654160-10654178
430THBD200.9942129629629610172823029307, 23029539-23029543, 23029722-23029725
431SNTA1200.8866930171278172151832000114-32000117, 32000423, 32000433, 32000442-32000445, 32031119-32031126, 32031161-32031224, 32031249, 32031323-32031372, 32031383-32031415, 32031421-32031426
432GDF5200.9873837981407719150634025141-34025159
433HNF4A200.995789473684216142543052705-43052710
434ADA200.995421245421255109243257756-43257757, 43257771, 43257775-43257776
435CTSA200.9799599198396830149744520208-44520210, 44520234, 44520237-44520240, 44520247-44520250, 44520321-44520335, 44523706, 44523771, 44526738
436PCK1200.999464954521131186956137760
437GNAS200.8387533875338811973857415167-57415206, 57415219-57415256, 57415296, 57415323-57415324, 57415388-57415389, 57415407-57415410, 57415457-57415460, 57415566, 57415586, 57415624, 57415780, 57415783-57415785, 57415814-57415821, 57415887-57415899
438GNAS200.90783558124599287311457428717, 57429063-57429070, 57429159-57429161, 57429167, 57429197, 57429221, 57429224-57429225, 57429258-57429260, 57429273, 57429321-57429322, 57429340, 57429352, 57429428, 57429431-57429438, 57429449, 57429452-57429455, 57429461-57429525, 57429629-57429658, 57429678-57429695, 57429716-57429720, 57429736-57429767, 57429814, 57429867, 57429870, 57429945-57429948, 57429960, 57429965-57429999, 57430053-57430057, 57430095-57430122, 57430245-57430265, 57430388
439COL9A3200.80778588807786395205561448417-61448494, 61448919-61448987, 61449870-61449884, 61450587, 61450590-61450599, 61451281-61451293, 61452533-61452559, 61453473-61453495, 61453974, 61453978-61453981, 61455797-61455798, 61456320-61456373, 61457169-61457189, 61457207-61457214, 61457584-61457609, 61458135-61458136, 61458163-61458172, 61458620-61458622, 61460128-61460130, 61461003-61461004, 61461756-61461760, 61461900-61461917
440CHRNA4200.02760084925691832188461978090-61978215, 61981005-61981219, 61981230-61981827, 61981836-61981847, 61981851-61981859, 61981863, 61981872-61981880, 61981884-61981984, 61981991-61982316, 61982328-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
441KCNQ2200.472699503627341381261962037997-62038129, 62038161, 62038170-62038183, 62038194-62038212, 62038221-62038267, 62038283, 62038292-62038339, 62038348-62038398, 62038414-62038448, 62038471-62038550, 62038553-62038555, 62038571-62038573, 62038613-62038669, 62038693-62038709, 62039774-62039786, 62039813-62039829, 62044832-62044879, 62046272-62046277, 62059752-62059755, 62059766, 62059777, 62070018, 62070951-62071051, 62073759-62073825, 62073835-62073884, 62076020-62076048, 62076080-62076081, 62076084-62076157, 62076181-62076187, 62076591-62076717, 62078100-62078101, 62078112-62078127, 62078150-62078153, 62078171, 62078186-62078190, 62103521-62103816
442SOX18200.0519480519480521095115562679519-62679600, 62679609-62679611, 62679619-62679650, 62679673-62679690, 62679709-62679993, 62679999-62680315, 62680512-62680869
443APP210.995676610462610231327542905-27542914
444IFNGR2210.9280078895463573101434775850-34775922
445RCAN1210.8432147562582311975935987115-35987116, 35987128-35987130, 35987162-35987212, 35987220-35987275, 35987304-35987310
446RUNX1210.9902979902979914144336164432-36164439, 36164458-36164463
447CBS210.93478260869565108165644474028, 44474045-44474052, 44474055, 44476958, 44476985-44476997, 44479022-44479059, 44480609-44480621, 44480625, 44483171-44483176, 44485598-44485600, 44485620, 44485741-44485751, 44486412-44486422
448CSTB210.892255892255893229745196085-45196116
449AIRE210.316239316239321120163845705890-45705997, 45706017-45706021, 45706459, 45706462, 45706492-45706541, 45706585-45706586, 45706614, 45706861-45706906, 45706925-45706959, 45706967, 45706991-45707004, 45707012-45707016, 45707400-45707412, 45707428-45707430, 45707456-45707472, 45708228-45708232, 45708274-45708294, 45708320-45708324, 45709540-45709573, 45709597-45709638, 45709644, 45709667, 45709882-45709914, 45709944-45709951, 45710978-45711058, 45711088, 45711093, 45712186-45712256, 45712268-45712284, 45712876-45713058, 45713676-45713744, 45713780, 45713783-45713793, 45714284-45714386, 45716266-45716323, 45717539-45717610
450ITGB2210.92380952380952176231046308649-46308678, 46308715-46308719, 46308732-46308761, 46308796-46308802, 46309352-46309397, 46309893-46309908, 46309959-46309960, 46311744-46311750, 46311772-46311775, 46311846-46311850, 46311878-46311896, 46311910-46311911, 46318996-46318997, 46320372
451COL18A1210.485470085470092709526546875446, 46875466, 46875494, 46875503, 46875593, 46875603, 46875613, 46875697-46875758, 46875833, 46875844, 46875917-46875918, 46876048-46876051, 46876054-46876074, 46876173, 46876179, 46876185, 46876195-46876203, 46876212-46876219, 46876227-46876239, 46876264-46876280, 46876293, 46876331-46876340, 46876344-46876354, 46876358-46876360, 46876372-46876414, 46876476, 46876502-46876554, 46876562-46876593, 46876607-46876770, 46876778-46876795, 46888156-46888157, 46888166, 46888178-46888194, 46888202-46888204, 46888228-46888259, 46888328-46888330, 46888350-46888351, 46888386-46888423, 46888438-46888478, 46888529-46888591, 46888630-46888664, 46888671, 46896337-46896368, 46897777-46897782, 46900027-46900046, 46900432, 46900699, 46900702-46900717, 46906775-46906795, 46906810-46906824, 46906827-46906830, 46906834, 46906843-46906906, 46907379-46907380, 46907388-46907397, 46907400, 46907403, 46907406, 46909400-46909408, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912469, 46912472-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915278, 46915303-46915307, 46915339-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927505, 46929290-46929293, 46929304-46929305, 46929313-46929314, 46929331, 46929349, 46929353-46929364, 46929373-46929419, 46929433-46929515, 46929978-46930077, 46930091-46930175, 46931025-46931046, 46931069-46931101, 46931109, 46931129, 46931137-46931140, 46932102-46932103, 46932111-46932186, 46932194-46932288
452COL6A1210.561386459345641354308747401765-47401861, 47402548-47402579, 47402588-47402622, 47402631-47402677, 47404183-47404292, 47404305-47404383, 47406440-47406542, 47406561-47406596, 47406858-47406986, 47407069-47407083, 47407413-47407425, 47407428-47407433, 47407524-47407568, 47408998-47409022, 47409040, 47409043-47409051, 47409527-47409552, 47409564-47409566, 47409666-47409679, 47409688-47409692, 47410172-47410198, 47410292-47410336, 47410687-47410707, 47410728-47410740, 47410893-47410895, 47410902-47410911, 47410925, 47410943-47410952, 47410955, 47411924-47411929, 47411966, 47411979, 47412095-47412130, 47412277-47412296, 47412662-47412693, 47414081-47414118, 47414139-47414143, 47417358-47417368, 47417614-47417644, 47418035-47418038, 47418067-47418085, 47418330, 47418811-47418853, 47419067-47419108, 47419571-47419578, 47419603-47419606, 47420245-47420246, 47420275-47420281, 47421179-47421182, 47422540, 47422547-47422550, 47423312-47423315, 47423321-47423334, 47423404-47423417, 47423467-47423472, 47423481-47423492, 47423511, 47423522, 47423529, 47423881-47423900
453COL6A2210.377777777777781904306047531391-47531402, 47531431-47531479, 47531504-47531505, 47531930-47532013, 47532051-47532057, 47532101-47532104, 47532248, 47532251, 47532255-47532256, 47532277-47532314, 47532360-47532371, 47532396-47532457, 47533936-47533958, 47533979-47533987, 47535794-47535796, 47535923-47535926, 47535946-47535967, 47536291-47536317, 47536571-47536587, 47536684-47536714, 47536728, 47537314-47537367, 47537788-47537831, 47537844-47537850, 47538528-47538590, 47538955-47538973, 47538984-47539008, 47539702-47539764, 47540429-47540458, 47540464-47540491, 47541007-47541036, 47541470-47541513, 47542030, 47542034-47542049, 47542070-47542072, 47542410-47542419, 47542433-47542445, 47542789-47542801, 47542811-47542851, 47544621-47544627, 47545182-47545189, 47545194-47545195, 47545206-47545219, 47545379-47545392, 47545407-47545425, 47545453-47545467, 47545471-47545478, 47545509-47545531, 47545699-47545708, 47545718-47545733, 47545740-47545742, 47545753-47545802, 47545823, 47545839-47545846, 47545872-47545896, 47545902-47545934, 47545954-47546049, 47546067-47546078, 47546096-47546133, 47546145, 47546443-47546455, 47551868-47552227, 47552235-47552329, 47552349-47552466
454COL6A2210.07602339181286631634247552183-47552227, 47552235-47552329, 47552349-47552524
455FTCD210.024600246002461586162647556901-47556975, 47556983-47556987, 47557153-47557190, 47557209-47557248, 47558422-47558560, 47558794-47558797, 47558813-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
456PCNT210.99600439516532401001147744185-47744186, 47783759-47783760, 47786657-47786669, 47808758, 47808797-47808799, 47809310, 47818001-47818008, 47841928, 47848316, 47848368, 47848372-47848375, 47848457-47848459
457PRODH220.80976150859678343180318900751-18900779, 18901015, 18910417, 18912583-18912621, 18923528-18923800
458GP1BB220.04991948470209359062119711377-19711516, 19711538-19711987
459TBX1220.47782258064516777148819747191, 19748428-19748708, 19753286, 19753314-19753328, 19753335-19753348, 19753425-19753514, 19753521, 19753524, 19753912-19754057, 19754069-19754075, 19754083-19754137, 19754147-19754171, 19754180-19754207, 19754220-19754230, 19754284-19754384
460SMARCB1220.9525043177892955115824129390-24129420, 24145508, 24145516, 24145541, 24145552, 24145594-24145609, 24175822-24175823, 24175826, 24176359
461CHEK2220.9744463373083545176129083906-29083913, 29083948-29083965, 29085165-29085171, 29091837-29091844, 29126410-29126413
462MYH9220.95189529151793283588336685195, 36685204-36685206, 36688095-36688104, 36691677-36691693, 36692963, 36694989-36694990, 36696188-36696228, 36696901-36696908, 36696944-36696983, 36697073-36697074, 36697580-36697601, 36697683-36697688, 36698649-36698678, 36698697-36698722, 36700041-36700044, 36700098-36700110, 36700181-36700182, 36700200, 36701976-36701981, 36702049-36702074, 36702529-36702546, 36712653-36712656
463TRIOBP220.96618765849535240709838119879-38119905, 38119979, 38120029-38120068, 38120173-38120185, 38120300, 38120323-38120325, 38120797, 38122239, 38122242, 38122454-38122455, 38122460-38122462, 38129332-38129350, 38129384, 38129408-38129419, 38130414-38130426, 38130459, 38130661-38130662, 38130687-38130688, 38130834-38130841, 38130911-38130915, 38130935-38130948, 38131020-38131034, 38131237-38131239, 38131242, 38131376-38131405, 38147779-38147796, 38153943, 38165155-38165156
464SOX10220.9878658101356217140138379560-38379576
465PLA2G622048948938508274-38508312, 38508511-38508584, 38509494-38509869
466PLA2G6220.66047087980173822242138508168-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511688, 38512082-38512218, 38516766, 38516776-38516792, 38516870-38516875, 38516880-38516916, 38519102-38519109, 38519161-38519183, 38519196-38519210, 38519216, 38519221, 38519234-38519238, 38524363, 38524395, 38528909, 38528916, 38528925-38528928, 38528938-38528958
467EP300220.9986197377501710724541574086, 41574208-41574216
468TNFRSF13C220.1945945945945944755542321397-42321425, 42321452-42321491, 42321504-42321506, 42321510-42321517, 42322105-42322335, 42322642-42322777
469CYB5R3220.976821192052982190643045301-43045321
470ATXN10220.9838935574229723142846067950-46067971, 46067990
471TRMU220.9249605055292395126646731662-46731737, 46751365-46751367, 46752767-46752774, 46752805, 46752818, 46752872-46752877
472ALG12220.9700068166325844146750303606-50303624, 50304165-50304166, 50307117-50307132, 50307360-50307364, 50307375-50307376
473MLC1220.83950617283951182113450500069-50500075, 50502463-50502627, 50508984, 50515899-50515907
474SCO2220.99625468164794380150962091-50962093
475TYMP220.63008971704624536144950964199-50964235, 50964255, 50964262-50964347, 50964430-50964570, 50964681-50964683, 50964698, 50964705-50964779, 50964816-50964851, 50964859-50964905, 50965014-50965018, 50965031, 50965039, 50965044-50965061, 50965086-50965110, 50965145-50965157, 50965167, 50965607-50965615, 50965704-50965706, 50967738-50967749, 50967948, 50967963, 50967989-50967994, 50968091-50968103
476ARSA220.86220472440945210152451063584-51063592, 51063638-51063639, 51063655, 51063682-51063704, 51063716, 51063720, 51063758-51063804, 51063828, 51063836-51063844, 51063848-51063860, 51064072-51064097, 51064469-51064474, 51064477-51064478, 51065170, 51065376, 51065380, 51065753-51065778, 51065827-51065834, 51065999, 51066003, 51066032, 51066126-51066133, 51066154-51066168, 51066196-51066201
477SHANK3220.49637681159422641524451113070-51113132, 51113476-51113679, 51115050-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133225-51133247, 51133273-51133304, 51133344-51133347, 51133366-51133367, 51133372-51133397, 51133441-51133447, 51133450-51133460, 51135671-51135719, 51135951-51136143, 51137123-51137126, 51137138-51137145, 51137175-51137192, 51137209-51137231, 51142335-51142338, 51143217-51143225, 51143454, 51143477-51143479, 51143490, 51144535-51144573, 51158612, 51158643-51158647, 51158671-51158677, 51158723-51158769, 51158789-51158833, 51158844-51158868, 51158887-51158934, 51158946-51159038, 51159102-51159134, 51159148-51159165, 51159189-51159215, 51159233-51159238, 51159244-51159281, 51159298-51159341, 51159350-51159353, 51159364-51159372, 51159378-51159390, 51159410-51159449, 51159477-51159511, 51159546, 51159592-51159619, 51159634-51159653, 51159712, 51159715-51159723, 51159750-51159782, 51159886-51159898, 51159930-51159933, 51159952-51159953, 51159995-51160009, 51160281, 51160286-51160314, 51160562-51160565, 51160605, 51160773-51160778, 51160821-51160827, 51160849-51160861, 51169149-51169269, 51169287-51169307, 51169334-51169338, 51169351-51169354, 51169379-51169390, 51169401, 51169422, 51169432-51169433, 51169436-51169437, 51169440-51169452, 51169456, 51169467-51169482, 51169492-51169609, 51169629-51169740
478FANCD230.9875452898550755441610088264-10088311, 10115015-10115021
479VHL30.933021806853584364210183700-10183742
480WNT7A30.994285714285716105013921308-13921313
481CRTAP30.9626865671641845120633155630-33155636, 33155694, 33155835-33155853, 33155859, 33155933-33155934, 33155945-33155954, 33156000-33156004
482SCN5A30.999320767532694588938618196-38618198, 38649705
483TMIE30.840958605664497345946742883-46742891, 46742895-46742902, 46742982-46742989, 46743002, 46743017-46743056, 46743064-46743070
484TMIE30.874734607218685947146742982-46742989, 46743002, 46743017-46743056, 46743064-46743070, 46751074-46751076
485TREX130.9819819819819820111048508316-48508331, 48508924-48508927
486COL7A130.98607809847199123883548613715-48613723, 48613973, 48613977, 48615793, 48616654-48616659, 48617069-48617071, 48617074, 48617479, 48623825, 48624108-48624111, 48625239-48625240, 48625273, 48625284-48625292, 48625793-48625810, 48626075-48626077, 48626084, 48626090-48626093, 48626407-48626416, 48626760-48626762, 48626841, 48626856-48626858, 48627086-48627107, 48627142-48627151, 48629663, 48629666-48629672
487SLC25A2030.972406181015452590648936155-48936179
488LAMB230.9942560681860331539749161707, 49161910-49161912, 49162029, 49162278-49162281, 49162876-49162880, 49167687, 49169121-49169136
489GNAT130.9031339031339102105350230710, 50231087-50231093, 50231186-50231195, 50231274-50231283, 50231525-50231536, 50231547-50231568, 50231612, 50231615-50231639, 50232036, 50232245-50232253, 50232338-50232341
490HYAL130.993119266055059130850338056, 50338121, 50338496-50338499, 50338502-50338503, 50340038
491TKT30.9535256410256487187253269035, 53269128, 53289852-53289891, 53289914-53289958
492FLNB30.9906518120117873780957994383-57994414, 57994421-57994452, 57994528, 57994544-57994545, 58139260-58139263, 58139341-58139342
493ATXN730.9154334038055240283863898275-63898295, 63898321-63898331, 63898340-63898349, 63898383-63898387, 63898399-63898400, 63898409-63898599
494ROBO230.99975827894611413777600028
495PROS130.996553421959637203193595919-93595924, 93596014
496ARL13B30.9728049728049735128793761928-93761930, 93761938, 93761969-93761970, 93761973-93761977, 93762029-93762030, 93762052-93762067, 93762071-93762076
497CPOX30.9509157509157567136598311936-98311940, 98312088, 98312133-98312145, 98312202-98312240, 98312302, 98312310-98312317
498ACAD930.998928188638821866128623332, 128628958
499NPHP330.98772852491861493993132438579, 132438605-132438612, 132440986, 132440994-132441000, 132441006, 132441078, 132441081-132441087, 132441096, 132441122-132441137, 132441153-132441158
500FOXL230.817860300618922061131138664485-138664486, 138664562, 138664675, 138664699, 138664706-138664707, 138664818-138664842, 138664850-138664894, 138665064-138665072, 138665083-138665106, 138665121-138665126, 138665129-138665147, 138665193-138665228, 138665373, 138665375-138665406, 138665512-138665513
501ALG330.94533029612756721317183966565-183966582, 183966614, 183966617-183966626, 183966634-183966637, 183966640-183966642, 183966648, 183966666-183966672, 183966680-183966706, 183966715
502CLCN230.92473118279572032697184069816-184069835, 184070102-184070106, 184070569-184070591, 184071102-184071110, 184071133-184071140, 184071515-184071528, 184071903-184071904, 184072035-184072042, 184072045, 184072355-184072367, 184072373, 184072377-184072379, 184073482-184073519, 184074868-184074877, 184075175-184075185, 184075428-184075433, 184075437-184075451, 184075486, 184075802, 184076796-184076801, 184076872, 184076881-184076887
503CPN230.96886446886447511638194061795-194061801, 194061872-194061896, 194061905-194061907, 194061922, 194062101, 194062109, 194062121, 194062190-194062193, 194062198, 194062332-194062335, 194062630, 194062707-194062708
504PDE6B40.97387914230019672565619517-619518, 647869, 647911-647943, 651140-651147, 651273-651281, 652741, 652789, 656948, 656951, 658670-658678, 658683
505IDUA40.02650356778797119101962980873-981030, 981597-981737, 994400-994485, 994677-994777, 995256-995351, 995467-995659, 995770-995949, 996057-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997412, 997800-997833, 997854-997874, 997883-997900, 998048-998091, 998098-998181
506FGFR340.49361351462711122924271795662-1795769, 1800981-1801123, 1801135-1801146, 1801158, 1801163, 1801191-1801247, 1801474-1801502, 1801534-1801539, 1803094-1803099, 1803104-1803108, 1803122-1803131, 1803135-1803162, 1803175, 1803196-1803197, 1803202-1803227, 1803241-1803263, 1803347-1803362, 1803382-1803386, 1803406-1803442, 1803455-1803470, 1803573-1803579, 1803595-1803670, 1803679-1803708, 1803711, 1803730-1803752, 1804663, 1804669, 1804676-1804687, 1804701, 1804714, 1804727-1804762, 1804777, 1804791, 1806057-1806066, 1806081, 1806150-1806160, 1806181, 1806220, 1806594, 1806605-1806608, 1806629, 1806635-1806691, 1807093, 1807096, 1807121-1807144, 1807164-1807203, 1807286-1807302, 1807333-1807347, 1807374-1807396, 1807477-1807479, 1807486, 1807499-1807509, 1807556-1807569, 1807587-1807622, 1807651, 1807654, 1807799-1807802, 1807869, 1807988-1807998, 1808001, 1808035-1808041, 1808047-1808054, 1808309-1808380, 1808386-1808392, 1808410, 1808556-1808568, 1808593, 1808616-1808624, 1808654-1808661, 1808843-1808867, 1808891, 1808906, 1808909-1808914, 1808922, 1808927, 1808937-1808989
507SH3BP240.9068389876144317318572819970-2819973, 2819976-2819981, 2819999-2820050, 2820065-2820071, 2820077-2820103, 2826437-2826440, 2831347-2831349, 2831386, 2831417-2831421, 2831565, 2831773-2831808, 2833372, 2833386-2833387, 2835509-2835531, 2835547
508HTT40.9716831053133926794293076553-3076559, 3076569, 3076600-3076603, 3076604-3076815, 3234955-3234977, 3234993, 3240298-3240303, 3240548-3240552, 3240626-3240633
509DOK740.4151815181518288615153465103-3465156, 3465233-3465278, 3475138, 3475143, 3475169, 3475189-3475231, 3475252, 3475257, 3475273-3475311, 3475359, 3478069-3478077, 3478092-3478116, 3478147-3478161, 3478188-3478193, 3478222-3478239, 3487268, 3487290, 3487301, 3487306, 3487312-3487315, 3487321-3487338, 3487361-3487385, 3494486-3494493, 3494503-3494574, 3494603-3494625, 3494631-3494700, 3494708-3494815, 3494824-3494831, 3494841-3494901, 3494914-3494919, 3494967-3495074, 3495095, 3495108-3495208, 3495221-3495228
510DOK740.219966159052454615913494489-3494493, 3494503-3494574, 3494603-3494625, 3494631-3494700, 3494708-3494815, 3494824-3494831, 3494841-3494901, 3494914-3494919, 3494967-3495074
511MSX140.98355263157895159124861833-4861847
512EVC240.99974535268653139275710217
513EVC40.980866062437065729795713108-5713119, 5713126-5713132, 5713180-5713203, 5754733-5754745, 5755643
514WFS140.992891881780771926736279259-6279273, 6279348-6279351
515QDPR40.99183673469388673517513584-17513586, 17513604-17513606
516COQ240.9463203463203562115584205752-84205766, 84205872, 84205875, 84205878-84205880, 84205904-84205945
517PKD240.94117647058824171290788928895-88928982, 88928993-88928999, 88929006-88929024, 88929066-88929067, 88929078-88929083, 88929095-88929098, 88929111-88929114, 88929156-88929196
518MTTP40.99553072625698122685100529992-100530003
519MANBA40.98522727272727392640103681942-103681967, 103681976-103681979, 103681997, 103682024-103682031
520CISD240.909313725490237408103808506-103808522, 103808568-103808587
521HADH40.99894179894181945108911173
522MMAA40.9992044550517111257146560571
523CTSO40.9668737060041432966156874881, 156874948-156874958, 156874962-156874981
524GLRB40.9973226238286541494158041708-158041709, 158041712, 158041716
525GK40.98074608904934321662166199358-166199364, 166199423-166199432, 166199603-166199609, 166199726, 166200757-166200763
526SDHA50.905764411027571881995218471-218533, 223682-223683, 225592-225593, 233712, 236613-236619, 236650-236681, 236693-236699, 240518-240524, 251143-251149, 251190-251218, 251538-251568
527SLC6A1950.6335958005249369819051201766-1201864, 1201873-1201967, 1208916, 1208919-1208922, 1208927-1208932, 1208961, 1208964, 1208970-1208971, 1208994-1209000, 1210559-1210573, 1210594-1210623, 1212477-1212523, 1212561-1212582, 1213578-1213688, 1214068-1214072, 1214075, 1214090-1214112, 1214131, 1214152-1214180, 1216775, 1216782, 1216795-1216801, 1217027-1217038, 1219018-1219022, 1219033-1219042, 1219054-1219069, 1219075, 1219078, 1219082, 1219102-1219119, 1219126, 1219148-1219154, 1219163, 1219215-1219222, 1219655-1219690, 1219731-1219779, 1221369-1221391
528TERT50.7543395116210783533991258757-1258759, 1264520-1264569, 1264642-1264647, 1272330-1272337, 1278886-1278895, 1279421-1279442, 1279483-1279485, 1279489-1279490, 1279508-1279552, 1279571-1279585, 1280291-1280295, 1280352, 1280355, 1280358, 1280405-1280414, 1293605, 1293842-1293879, 1293914-1293916, 1293926-1293928, 1293936-1293941, 1293975-1293978, 1294090, 1294160, 1294215-1294257, 1294279-1294297, 1294307-1294345, 1294395-1294404, 1294439-1294473, 1294518-1294632, 1294661-1294781, 1294886-1294974, 1294980-1295104
529SLC6A350.7675791733762743318631403142, 1403146-1403149, 1406308-1406316, 1406326-1406328, 1406335-1406377, 1406386, 1406395, 1409144-1409175, 1409186-1409236, 1409836-1409856, 1409878-1409909, 1409915-1409964, 1411375, 1411412, 1414806-1414811, 1414833-1414848, 1414855-1414856, 1414862-1414865, 1414868-1414871, 1414875-1414880, 1420684-1420699, 1420728-1420747, 1420755, 1421999-1422093, 1422117-1422129
530SDHA50.9908256880733933271593246, 1593266, 1594526
531NDUFS650.9946666666666723751801532-1801533
532FAM134B50.9919678714859412149416616901, 16616905-16616907, 16616929-16616932, 16616961-16616964
533AMACR50.9669277632724138114934007892-34007921, 34007987-34007994
534ITGA250.9966159052453512354652285325-52285336
535SMN250.984180790960451488569359242-69359247, 69362949, 69372350-69372356
536SMN250.9909604519774888570220940, 70234666-70234671, 70238373
537HEXB50.9569120287253172167173981131-73981176, 73981214-73981239
538ARSB50.998127340823973160278280982-78280984
539RASA150.9888676844783735314486564328-86564331, 86564547, 86564550-86564552, 86670033, 86670079-86670104
540GPR9850.9997357433539551892190144595-90144599
541APC50.9998827941865918532112111326
542LMNB150.903463940942651701761126113201-126113204, 126113221, 126113227-126113285, 126113290, 126113357-126113386, 126113455-126113529
543FBN250.999542281725648739127873293-127873296
544SLC22A550.93787335722821041674131705683-131705694, 131705748-131705758, 131705785-131705822, 131705851-131705855, 131705902-131705934, 131705990-131705994
545MYOT50.98663994655979201497137221817-137221821, 137221859, 137221862-137221875
546MSX250.998756218905471804174151766
547F1250.902061855670157582176829579, 176830296-176830334, 176830361-176830377
548F1250.776515151515154131848176829579, 176830296-176830334, 176830361-176830379, 176830482-176830515, 176830545-176830580, 176830598-176830618, 176830860-176830894, 176830898, 176830921-176830928, 176830938-176830942, 176830953, 176830968-176830979, 176831006-176831009, 176831034-176831038, 176831080-176831091, 176831212-176831214, 176831220, 176831223-176831241, 176831248-176831249, 176831298-176831309, 176831370-176831375, 176831500-176831515, 176831538-176831542, 176831563-176831577, 176831622-176831665, 176831817-176831832, 176831847-176831849, 176831902, 176832056-176832077, 176832963-176832977
549GRM650.97000759301443792634178413705-178413709, 178415936-178415940, 178417742, 178421656-178421690, 178421770, 178421893-178421924
550SQSTM150.93499622071051861323179247937-179247940, 179248005-179248041, 179248052, 179248058-179248059, 179248068-179248071, 179248078-179248083, 179248088-179248119
551FLT450.251955034213130614092180036045, 180038331-180038343, 180038469, 180039584-180039585, 180041126-180041139, 180043367-180043396, 180043435-180043466, 180043484-180043489, 180043973, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048714, 180048721-180048765, 180048774-180048904, 180049731-180049762, 180049772-180049793, 180049811-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
552FOXC160.5216606498194979516621610681-1610690, 1610701-1610799, 1610823-1610838, 1610845-1610914, 1610942-1610952, 1611019-1611033, 1611068-1611118, 1611148-1611162, 1611169-1611215, 1611256-1611300, 1611309-1611352, 1611374-1611397, 1611403-1611473, 1611500-1611522, 1611567-1611591, 1611617-1611626, 1611632-1611714, 1611774-1611825, 1611835-1611841, 1611898-1611947, 1611998, 1612001-1612003, 1612006-1612021, 1612025-1612027, 1612035, 1612110-1612111, 1612222
553TUBB2B60.9192825112107610813383225011, 3225041, 3225049-3225050, 3225053, 3225122, 3225183-3225201, 3225242-3225246, 3225286-3225326, 3225344, 3225347, 3225374, 3225441-3225465, 3225489, 3225493-3225495, 3225506-3225507, 3225510, 3225538, 3225662
554DSP60.99918755803157786167542268-7542274
555DTNBP160.9867424242424214105615663070, 15663080-15663092
556ATXN160.981209150326846244816327865-16327897, 16327909, 16327915, 16327932-16327942
557NHLRC160.995791245791255118818122627-18122631
558ALDH5A160.9914996964177314164724495394-24495400, 24495528-24495534
559HFE60.997134670487113104726087715-26087717
560HLA-H60.8626666666666710375029855797-29855823, 29855891, 29855897, 29855900-29855901, 29856303, 29856347, 29856480-29856497, 29856513-29856558, 29856633, 29856643, 29856655, 29856679, 29856693, 29856718
561NEU160.995192307692316124831829804-31829806, 31830440-31830442
562TNXB60.9574909279419482192931976916, 31976926, 31977388-31977394, 31977525-31977555, 31977998, 31978498-31978535, 31979450, 31979455, 31979479
563CYP21A260.963037634408655148832006211-32006234, 32006317, 32006337, 32006886, 32008195-32008201, 32008266, 32008451, 32008679-32008696, 32008904
564TNXB60.990651268756381191272932009648-32009664, 32009790, 32010123-32010129, 32010259-32010289, 32010732, 32011235, 32011248, 32012304, 32012309, 32012329-32012352, 32013010-32013029, 32025900, 32063938, 32064198, 32064306, 32064313-32064321, 32064737
565HLA-DQA160.963541666666672876832609181, 32609968, 32610387-32610407, 32610532-32610535, 32610538
566HLA-DQB160.688295165394424578632629124-32629173, 32629193-32629194, 32629199, 32629224-32629234, 32629755, 32629764, 32629768, 32629797, 32629802, 32632575-32632618, 32632650, 32632659-32632662, 32632673-32632733, 32632740-32632759, 32632832, 32634300-32634302, 32634306, 32634321-32634355, 32634366-32634371
567SYNGAP160.98437563403233388042-33388104
568MOCS160.78126635269492418191139893422-39893589, 39895068-39895317
569PRPH260.9875120076849213104142672152, 42672156-42672158, 42672166-42672174
570PEX660.998980632008153294342946527, 42946667-42946668
571RSPH960.8279181708784614383143612838-43612842, 43612846-43612872, 43612898, 43612903-43612949, 43612971-43613030, 43613060-43613062
572RUNX260.9597701149425363156645390429-45390435, 45390447, 45390476-45390527, 45390532, 45390538, 45390624
573MUT60.997780736795385225349409575-49409579
574RIMS160.999015554242965507972892345, 72892356-72892357, 72892364-72892365
575PDSS260.99121200107780267-107780278
576OSTM160.878606965174131221005108395697-108395761, 108395767-108395812, 108395833-108395843
577COL10A160.999510523739612043116442766
578GJA160.9939077458659771149121768922-121768928
579ENPP160.98344132469402462778132129219, 132129267-132129284, 132129291, 132129300, 132129304-132129306, 132129336, 132129358-132129368, 132203494-132203503
580PEX760.9557613168724343972137143804, 137143854-137143869, 137143895-137143920
581EPM2A60.9186746987951881996146056347-146056381, 146056416, 146056426, 146056465-146056481, 146056490-146056494, 146056506-146056508, 146056511, 146056528, 146056576-146056590, 146056593-146056594
582IYD60.9793103448275918870150690318-150690335
583SYNE160.99969690081079826394152644703-152644710
584TBP60.901960784313731001020170871010-170871109
585LFNG70.4508771929824662611402559496-2559915, 2559923-2559927, 2564333-2564371, 2564862-2564898, 2565048-2565051, 2565095-2565111, 2565348, 2565385-2565399, 2565878-2565888, 2565892-2565895, 2565926-2565935, 2566006-2566043, 2566482-2566485, 2566523-2566532, 2566790-2566793, 2566829-2566835
586PMS270.96755504055628425896026653-6026654, 6026775, 6027034-6027036, 6029431-6029475, 6045523-6045547, 6048628-6048635
587TWIST170.4729064039408932160919156366-19156373, 19156509-19156513, 19156538-19156586, 19156614-19156618, 19156628-19156632, 19156648-19156714, 19156722-19156728, 19156735-19156871, 19156885-19156919, 19156929, 19156933, 19156939
588HOXA170.997023809523813100827135317-27135319
589HOXA1370.67780634104542376116727239082-27239084, 27239095-27239124, 27239189, 27239208-27239210, 27239216-27239223, 27239241-27239283, 27239295-27239373, 27239381-27239385, 27239397-27239488, 27239506-27239610, 27239642-27239648
590GLI370.998102466793179474342005214, 42005663-42005667, 42005884, 42005901, 42005904
591PGAM270.90026246719167676244104513-44104532, 44104813-44104856, 44104954-44104958, 44105122-44105128
592GCK70.962169878658153140144186073-44186092, 44186117-44186125, 44186202, 44186205-44186211, 44191870-44191874, 44191878-44191880, 44192964-44192970, 44193008
593CCM270.66591760299625446133545113125-45113170, 45113869, 45113873-45113980, 45113998-45114007, 45115376-45115656
594EGFR70.9895403248004438363355086983-55086997, 55087006-55087009, 55087044-55087051, 55214382-55214392
595GUSB70.9810838445807837195665439577-65439603, 65439686-65439687, 65440040, 65440048, 65440054-65440057, 65447025-65447026
596ASL70.84086021505376222139565547878-65547897, 65548105-65548111, 65551603-65551609, 65551731-65551776, 65552321, 65552759-65552762, 65553801-65553845, 65553858-65553880, 65553902, 65554102-65554118, 65554127, 65554133, 65554141-65554147, 65554271, 65554628-65554632, 65554643, 65554668-65554673, 65557053, 65557544-65557552, 65557637-65557650, 65557847, 65557863-65557864, 65557890, 65557899
597KCTD770.924137931034486687066094111, 66094131-66094195
598SBDS70.976095617529881875366456147-66456164
599NCF170.881212121212129882572637917-72637920, 72639949-72639996, 72640029-72640040, 72644230-72644236, 72648712-72648722, 72648735-72648750
600FKBP670.9989837398374198472742464
601ELN70.9618390804597783217573442518-73442591, 73466084, 73466088, 73466266-73466271, 73466284
602NCF170.7766410912191262117374193665-74193678, 74197282-74197322, 74197390, 74202386-74202432, 74202930-74202972, 74202981-74203048, 74203440-74203487
603POR70.62506118453255766204375609716-75609718, 75609735-75609742, 75609769-75609779, 75610366-75610384, 75610472-75610490, 75611617-75611619, 75611626-75611628, 75612859-75612866, 75612932-75612944, 75613056, 75613161-75613166, 75614095-75614104, 75614173-75614268, 75614389-75614525, 75614913-75614947, 75615006, 75615010-75615030, 75615044-75615050, 75615062-75615110, 75615127-75615167, 75615241, 75615260-75615295, 75615303-75615324, 75615334-75615335, 75615345-75615374, 75615384-75615386, 75615477-75615478, 75615488, 75615501-75615559, 75615655-75615770, 75615797-75615799
604HSPB170.930420711974114361875932043-75932070, 75932135, 75932138-75932149, 75932256, 75932377
605ABCB470.999739583333331384087031473
606SLC25A1370.999507631708521203195951257
607RELN70.99980726606919210377103629729-103629730
608DLD70.9993464052287611530107556084
609CFTR70.99437317128067254443117188736, 117188750, 117188794-117188800, 117188838-117188853
610IMPDH170.95111111111111881800128045843-128045847, 128045902-128045919, 128049834-128049856, 128049864-128049905
611FLNC70.954756664221083708178128470692-128470707, 128470724-128470734, 128470757-128470768, 128470789-128470838, 128470846-128470885, 128470908, 128470943-128471032, 128477219-128477230, 128477256, 128477264-128477282, 128477291-128477292, 128477296-128477297, 128477304, 128477308-128477309, 128477743-128477752, 128477760, 128477763-128477769, 128478105, 128480106-128480122, 128480718, 128480914-128480917, 128481239-128481242, 128482285-128482287, 128482679, 128482728-128482751, 128482876-128482889, 128483362, 128484245, 128488023, 128492758, 128494262, 128494575, 128494584-128494587, 128497216-128497222, 128498187-128498193
612ATP6V0A470.9980182322631852523138437401-138437405
613BRAF70.99043893959148222301140624399-140624400, 140624404-140624421, 140624491, 140624502
614PRSS170.8924731182795780744142458506-142458529, 142459625-142459629, 142459664-142459682, 142459811-142459840, 142460339, 142460388
615KCNH270.97155172413793993480150642563-150642567, 150644041, 150655166-150655178, 150655191-150655194, 150655205-150655230, 150655492, 150671865-150671878, 150671887, 150671902, 150671905, 150674926-150674946, 150674970-150674975, 150674997-150675001
616PRKAG270.9970760233918151710151272008-151272012
617SHH70.493160547156237041389155595603-155595638, 155595659-155595664, 155595691-155595838, 155595849-155595859, 155595862-155595894, 155595916-155596229, 155596253-155596256, 155596259, 155596268, 155596285, 155596348-155596420, 155599023-155599029, 155599041-155599042, 155599086-155599088, 155599097-155599119, 155599163-155599182, 155599196-155599199, 155604800-155604816
618MNX170.572968490878945151206156798387-156798419, 156799264-156799273, 156802444, 156802463, 156802471, 156802484-156802487, 156802515-156802517, 156802521-156802556, 156802570-156802573, 156802579-156802581, 156802626-156803044
619CLN880.9965156794425138611719520-1719522
620GATA480.80436418359669260132911565840-11565873, 11565901, 11565909, 11565916-11565921, 11565994-11566001, 11566008, 11566017, 11566026-11566042, 11566052-11566099, 11566107-11566116, 11566120-11566139, 11566156-11566222, 11566255-11566264, 11566296, 11566319-11566333, 11566367-11566373, 11566406-11566418
621SFTPC80.98484848484848959422021408-22021416
622NEFL80.9901960784313716163224813407-24813422
623THAP180.975077881619941664242698201-42698216
624HGSNAT80.93815513626834118190842995640-42995757
625TTPA80.988052568697731083763998474-63998483
626TMEM7080.974457215836532078374888630-74888649
627CA280.956577266922093478386376311-86376344
628VPS13B80.99983324995831211994100844597-100844598
629DPYS80.9993589743589711560105479134
630TRPS180.9969111969112123885116599447-116599457, 116599478
631KCNQ380.9988545246277232619133492560, 133492632, 133492764
632SLURP180.125273312143822580-143822694, 143823221-143823299, 143823320-143823340, 143823746-143823803
633CYP11B180.98611111111111211512143958513-143958533
634CYP11B280.93584656084656971512143993988-143993994, 143994029, 143994069-143994081, 143994702, 143994724, 143994816-143994822, 143996314, 143996536-143996556, 143998593-143998629, 143999032-143999038, 143999219
635PLEC80.245250800426891060814055144990359, 144990378-144990435, 144990448-144990531, 144990579-144990635, 144990645-144990660, 144990664, 144990689, 144990718-144990760, 144990767-144990833, 144990849-144990930, 144990992-144991000, 144991096-144991107, 144991136-144991213, 144991226, 144991308-144991354, 144991364-144991408, 144991439-144991466, 144991486, 144991489-144991491, 144991537-144991575, 144991622, 144991702, 144991784-144991820, 144991873-144991897, 144991911-144991912, 144991916-144991924, 144991942, 144991957, 144991961-144991963, 144991974, 144992020-144992065, 144992078-144992115, 144992130-144992136, 144992168-144992189, 144992203-144992208, 144992236, 144992240, 144992262-144992263, 144992275-144992292, 144992314-144992331, 144992354-144992497, 144992507-144992546, 144992565-144992566, 144992571-144992644, 144992692-144992731, 144992753-144992765, 144992769-144992770, 144992787-144992889, 144992900-144992907, 144992948-144992988, 144992996-144992997, 144993009-144993010, 144993013-144993017, 144993024-144993051, 144993074-144993092, 144993116-144993138, 144993149-144993188, 144993215-144993236, 144993245-144993250, 144993253-144993258, 144993299-144993362, 144993384, 144993387-144993475, 144993483-144993532, 144993540-144993546, 144993550-144993551, 144993554, 144993563-144993638, 144993658-144993865, 144993876-144993889, 144993931-144994022, 144994027-144994056, 144994073-144994076, 144994079, 144994117, 144994132-144994134, 144994162-144994178, 144994186-144994219, 144994235, 144994246-144994249, 144994255-144994260, 144994290-144994298, 144994312-144994377, 144994379-144994390, 144994401, 144994407, 144994416-144994422, 144994435-144994438, 144994459-144994504, 144994520, 144994554, 144994567-144994677, 144994749-144994781, 144994809-144994824, 144994846-144994883, 144994934-144994967, 144994987-144995133, 144995155-144995169, 144995238-144995241, 144995247, 144995275-144995324, 144995338-144995425, 144995440-144995467, 144995477-144995527, 144995535, 144995538, 144995558-144995603, 144995616, 144995621-144995638, 144995663-144995873, 144995895-144995989, 144996000-144996035, 144996053-144996096, 144996106-144996140, 144996148-144996284, 144996307-144996328, 144996338, 144996352-144996394, 144996408, 144996423-144996447, 144996513-144996563, 144996672-144996733, 144996736, 144996743-144996841, 144996857-144996929, 144996937-144996956, 144996983-144996989, 144996991, 144996996-144997020, 144997025-144997028, 144997056-144997199, 144997222-144997234, 144997242, 144997245, 144997270-144997273, 144997278-144997295, 144997327-144997545, 144997570-144997577, 144997594-144997649, 144997656, 144997680-144997720, 144997732-144997785, 144997796-144998089, 144998095-144998352, 144998364-144998511, 144998529-145000052, 145000952-145001050, 145001152-145001249, 145001420-145001503, 145001578-145001856, 145001869-145001934, 145002022-145002072, 145002082-145002160, 145003271-145003431, 145003582-145003739, 145003814-145003871, 145003880-145003997, 145004104-145004230, 145004312-145004430, 145004449-145004450, 145004453-145004456, 145004582, 145004602, 145004687-145004704, 145005702-145005827, 145006105-145006200, 145006298-145006402, 145006568-145006729, 145006803-145006880, 145006961-145007265, 145007365-145007386, 145007388, 145007397-145007456, 145007493-145007519, 145008166-145008251, 145008258-145008259, 145008486-145008613, 145008803-145008829, 145008845-145008898, 145008978-145009064, 145009071-145009097, 145009179-145009184, 145009195-145009285, 145009366-145009481, 145010016-145010072, 145010092-145010182, 145011147-145011182, 145011200-145011239, 145011333-145011410, 145012334-145012343, 145012347, 145012369-145012372, 145012389, 145012858-145012860, 145024352-145024477, 145024512-145024523, 145024532-145024537, 145024543, 145024548-145024550, 145024562, 145024575-145024595, 145024634-145024635, 145024659-145024686, 145024693-145024699, 145024702-145024715, 145024742-145024783, 145024796, 145024799-145024826, 145024833-145024836, 145024851-145024865, 145024869
636GPT80.1435278336686812771491145729711-145729737, 145729764, 145729772-145729839, 145729848-145729849, 145729987-145730007, 145730025-145730068, 145730154-145730158, 145730214-145730242, 145730255-145730262, 145730381-145730400, 145730408-145730450, 145730468-145730514, 145730629-145730872, 145731231-145731310, 145731378-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732205, 145732221-145732226, 145732293-145732351, 145732371-145732383
637RECQL480.2746071133167926313627145736814-145736848, 145736901-145736938, 145737064-145737172, 145737294-145737318, 145737328-145737450, 145737527-145737707, 145737775-145737944, 145738025-145738154, 145738230-145738521, 145738601-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739383, 145739399, 145739409-145739447, 145739460-145739462, 145739471-145739491, 145739573-145739605, 145739628, 145739651-145739683, 145739718-145739746, 145739826-145739836, 145739851-145739894, 145739902-145739909, 145740320-145740361, 145740371-145740388, 145740406, 145740412-145740417, 145740420-145740440, 145740443, 145740534-145740574, 145740614, 145740620, 145740625-145740626, 145740710-145740723, 145740729-145740747, 145740779, 145740799-145740828, 145741151, 145741160-145741162, 145741268, 145741372-145741401, 145741455-145741460, 145741467-145741470, 145741475-145741477, 145741494-145741538, 145741560-145741592, 145741619-145741626, 145741645-145741691, 145741711-145741747, 145741788-145741789, 145741816, 145741822, 145741832, 145741849-145741851, 145741896-145741898, 145741900-145741906, 145741935, 145741950-145741952, 145741955-145741975, 145742050-145742058, 145742094-145742100, 145742109, 145742112, 145742123-145742127, 145742138-145742139, 145742144, 145742434-145742454, 145742466-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168
638DOCK890.99619047619048246300214978, 214992-214995, 215010, 377136-377142, 396922-396926, 452044-452049
639VLDLR90.98817696414953126222622190-2622195, 2622215-2622239
640KCNV290.967643467643475316382718243-2718249, 2718429-2718432, 2718726-2718767
641GLIS390.99964196204798127934118329
642GLDC90.968984655566449530636645304-6645324, 6645357-6645369, 6645380-6645414, 6645456-6645474, 6645493-6645499
643CDKN2A90.98659003831418752221994369-21994375
644NPR290.999045801526723314435792411-35792413
645FXN90.99368088467615463371650782, 71650794-71650796
646ROR290.94950564971751143283294486443, 94486446, 94486452-94486458, 94487049, 94493227, 94493230-94493231, 94493308-94493310, 94495456-94495480, 94495487-94495498, 94495509, 94495547-94495599, 94495625-94495631, 94495714-94495718, 94712193-94712194, 94712222-94712230, 94712233-94712245
647FBP190.9921337266478101797365835-97365842
648FANCC90.997614788312464167797873775, 97873784-97873785, 97873788
649PTCH190.9942449355432825434498270485-98270498, 98270513-98270514, 98270517-98270518, 98270560, 98270598-98270601, 98270617, 98270643
650FOXE190.726381461675583071122100616209, 100616223-100616225, 100616268-100616295, 100616305-100616354, 100616540-100616548, 100616582-100616583, 100616607-100616647, 100616669-100616741, 100616757-100616762, 100616770-100616782, 100616797-100616798, 100616804, 100616809-100616832, 100616885-100616890, 100616928-100616930, 100617036-100617040, 100617050-100617051, 100617099-100617124, 100617174, 100617181, 100617282-100617291
651TGFBR190.99007936507937151512101867535-101867549
652ALG290.9944044764188671251101983917-101983923
653ALAD90.9798590130916420993116151360-116151372, 116152915-116152921
654DFNB3190.98972099853157282724117168786-117168795, 117266866-117266868, 117266927-117266931, 117266935, 117267034-117267042
655GSN90.9995742869306112349124062213
656NR5A190.80014430014432771386127245037, 127245040, 127245101-127245108, 127245160-127245182, 127253416, 127253478, 127253489-127253493, 127255320-127255376, 127255414-127255418, 127255422-127255424, 127262404-127262406, 127262443-127262450, 127262515-127262554, 127262610-127262615, 127262765-127262766, 127262770, 127262870-127262882, 127265358-127265359, 127265383-127265448, 127265474-127265477, 127265489-127265490, 127265581-127265589, 127265656-127265663, 127265667-127265674
657LMX1B90.9579982126899471119129376798-129376827, 129376851-129376867
658ENG90.98836621143146231977130577961-130577980, 130578020-130578022
659GLE190.9995231282784912097131267182
660DOLK90.99072356215213151617131708167, 131708217, 131709000-131709001, 131709004, 131709007, 131709035-131709038, 131709503-131709507
661TOR1A90.991991991991998999132586217, 132586326-132586328, 132586333-132586336
662POMT190.920110192837471742178134394224-134394227, 134394230, 134394260-134394277, 134394298-134394305, 134394318-134394344, 134394809, 134394819-134394858, 134395489-134395527, 134396743, 134396746-134396750, 134396794-134396806, 134397434-134397437, 134397443, 134397446, 134397449, 134397583-134397590, 134398378, 134398486
663SETX90.99738610903659218034135139874-135139893, 135139913
664TTF190.9996320824135412718135251343
665CEL90.763099955966535382271135944583-135944589, 135945994-135946018, 135946472-135946475, 135946522-135946525, 135946573-135946617, 135946624-135947019, 135947035-135947091
666SURF190.87153931339978116903136220648-136220649, 136221758-136221782, 136223124-136223143, 136223161-136223175, 136223276-136223329
667ADAMTS1390.900326797385624274284136288233, 136291095-136291101, 136293754-136293891, 136295059-136295095, 136295110-136295119, 136295125-136295126, 136295131-136295174, 136295191-136295192, 136295205-136295211, 136295218-136295221, 136297719-136297726, 136297736-136297741, 136298543-136298576, 136298605-136298607, 136298634-136298640, 136302006-136302013, 136302046-136302060, 136302993-136302994, 136305636-136305640, 136307820-136307822, 136310919-136310920, 136315064-136315071, 136320484-136320487, 136320638-136320640, 136320701-136320707, 136321721-136321726, 136323081-136323101, 136323119, 136324152-136324164, 136324239, 136324284-136324301
668DBH90.94282632146711061854136501555-136501558, 136516785-136516821, 136516895, 136521710-136521715, 136522233-136522238, 136522264-136522280, 136522316-136522337, 136523525-136523537
669SARDH90.891548784911142992757136529104-136529105, 136531857, 136531883-136531910, 136531936-136531941, 136531967-136531991, 136535706-136535713, 136535734-136535764, 136535770-136535843, 136536663-136536718, 136536741-136536753, 136536773-136536793, 136536814-136536819, 136559395-136559409, 136573443, 136577818-136577829
670COL5A190.7839405473989511925517137534034-137534142, 137582758-137582815, 137582842-137582910, 137591755-137591779, 137591795-137591797, 137591810-137591812, 137591825-137591968, 137593017-137593179, 137620559-137620581, 137623452, 137623483, 137630320-137630324, 137630351-137630361, 137630613, 137642438, 137642457, 137642690, 137642693-137642728, 137644435-137644491, 137645696-137645748, 137646119-137646131, 137646157-137646172, 137648611-137648626, 137653780-137653782, 137653795-137653806, 137655539, 137655551-137655561, 137655573, 137657532, 137658300-137658330, 137658846-137658876, 137664669-137664680, 137671989-137671992, 137674547, 137676872, 137676876-137676877, 137676919-137676931, 137677841, 137688228-137688249, 137688716, 137690289-137690296, 137693852, 137694787-137694837, 137696903, 137696908-137696910, 137698084-137698108, 137703338, 137703346-137703367, 137704453-137704454, 137705829-137705836, 137706651-137706689, 137706742-137706743, 137708889-137708898, 137708915-137708925, 137710523-137710560, 137710694-137710700, 137710733-137710736, 137726909
671LHX390.468982630272956421209139089171-139089189, 139089204-139089223, 139089229-139089275, 139089283-139089284, 139089297-139089298, 139089309-139089314, 139089325-139089330, 139089350-139089375, 139089390-139089412, 139089452, 139089464, 139089472, 139089492, 139089538, 139089551-139089589, 139090498-139090506, 139090512-139090517, 139090520, 139090531-139090571, 139090576-139090578, 139090580-139090589, 139090603-139090636, 139090643-139090666, 139090754-139090905, 139091549, 139091620-139091629, 139091645-139091646, 139091661-139091687, 139091710, 139091721-139091726, 139092446-139092471, 139094792-139094885
672INPP5E90.570025839793288321935139326276-139326287, 139326297-139326333, 139326348-139326352, 139326360-139326399, 139326416-139326431, 139326978-139327011, 139327034, 139327471-139327474, 139327526, 139327631-139327632, 139327670-139327674, 139327724, 139328489-139328499, 139328526-139328551, 139328567, 139329201-139329223, 139329257-139329313, 139333060, 139333062-139333110, 139333119-139333196, 139333206-139333207, 139333219-139333256, 139333292-139333354, 139333382-139333408, 139333433-139333434, 139333469-139333526, 139333539, 139333582-139333648, 139333668, 139333674-139333764, 139333774-139333791, 139333812-139333871
673NOTCH190.2056598852373560917668139390523-139390614, 139390638-139390665, 139390703-139390717, 139390727-139391045, 139391070-139391140, 139391148-139391350, 139391369-139391430, 139391452-139391556, 139391576-139391642, 139391665-139391683, 139391685-139391754, 139391768-139391886, 139391896-139391919, 139391960-139392010, 139393380-139393407, 139393415-139393437, 139393564-139393585, 139393589-139393593, 139393602, 139393612-139393672, 139393674-139393675, 139393688, 139393698-139393711, 139395004-139395034, 139395059-139395156, 139395165-139395168, 139395176-139395182, 139395205-139395235, 139395254-139395270, 139395298-139395299, 139396200-139396333, 139396348-139396365, 139396464-139396465, 139396468-139396469, 139396505-139396506, 139396514, 139396526-139396540, 139396724-139396741, 139396758-139396774, 139396808-139396842, 139396871-139396918, 139397634-139397674, 139397677, 139397702, 139397707-139397728, 139397741, 139397750-139397768, 139397774-139397782, 139399125-139399138, 139399146-139399150, 139399162-139399163, 139399178-139399180, 139399197-139399242, 139399249-139399453, 139399459-139399556, 139399768-139399782, 139399788-139399791, 139399806, 139399815-139399844, 139399852-139399879, 139399895-139399920, 139399928-139399960, 139399966-139400079, 139400097-139400116, 139400124-139400138, 139400152-139400173, 139400182-139400183, 139400189-139400192, 139400212-139400333, 139400987-139401018, 139401037-139401091, 139401168-139401187, 139401212-139401255, 139401262-139401268, 139401278-139401324, 139401347-139401370, 139401374, 139401410-139401425, 139401757-139401803, 139401828-139401876, 139401888-139401889, 139402407-139402420, 139402436-139402441, 139402445-139402459, 139402478-139402539, 139402551-139402558, 139402584-139402591, 139402684-139402757, 139402769-139402789, 139402799-139402837, 139403322-139403424, 139403434-139403477, 139403493-139403523, 139404185-139404188, 139404218-139404228, 139404233-139404244, 139404320-139404362, 139405105-139405148, 139405154-139405173, 139405192-139405238, 139405245-139405254, 139405607-139405627, 139405672-139405723, 139407473-139407586, 139407844-139407904, 139407931-139407936, 139407941-139407966, 139407973-139407989, 139408962-139408996, 139409010-139409064, 139409104-139409154, 139409742-139409852, 139409935-139409957, 139409966, 139409997-139410168, 139410433-139410516, 139410532-139410540, 139411724-139411764, 139411773-139411837, 139412204-139412224, 139412236-139412389, 139412589-139412744, 139413043-139413276, 139413895-139413928, 139413944-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438485, 139438501-139438554, 139440178-139440238
674AGPAT290.62365591397849315837139568204-139568238, 139568265, 139568308-139568314, 139568355-139568379, 139569206-139569214, 139571105, 139571418-139571427, 139571519, 139571538, 139571548-139571558, 139571579-139571588, 139571901-139571921, 139572000, 139581628-139581809
675SLC34A390.3283333333333312091800140126167-140126174, 140126540-140126555, 140127027-140127043, 140127054-140127057, 140127069-140127071, 140127083, 140127088, 140127144-140127146, 140127274-140127318, 140127327-140127378, 140127456-140127457, 140127463-140127508, 140127557, 140127560, 140127681-140127692, 140127709-140127729, 140127734, 140127795-140127831, 140128085-140128132, 140128142-140128174, 140128315-140128393, 140128561-140128644, 140128664-140128695, 140128701-140128728, 140128868-140128984, 140129082-140129106, 140129115-140129164, 140129174, 140130404-140130413, 140130433-140130842, 140130848-140130868
676EHMT190.797793174236597883897140513481-140513501, 140605429-140605482, 140611078-140611634, 140671258, 140671281, 140672370, 140708889-140708896, 140728801-140728813, 140728923-140728932, 140728960-140728976, 140729225-140729235, 140729258-140729307, 140729323-140729338, 140729363-140729364, 140729380-140729405
677SHOXX0.57792946530148371879591633-591864, 591883-591909, 595393, 595451-595561
678CSF2RAX0.7532567049808432213051404671-1404672, 1404780-1404803, 1409308-1409350, 1413235, 1413244-1413276, 1413305-1413332, 1414320-1414324, 1414327, 1419384-1419430, 1419457-1419502, 1422154, 1422161-1422165, 1422176-1422177, 1422191, 1422198, 1422204, 1422209-1422246, 1422250, 1422816-1422839, 1422848-1422853, 1422868, 1422894-1422904
679GPR143X0.99607843137255512759733815-9733819
680SMSX0.9582198001816546110121958946-21958991
681ARXX0.9141503848431145168925025356-25025358, 25031220-25031226, 25031452-25031479, 25031515-25031523, 25031536, 25031574-25031578, 25031640-25031714, 25031777-25031786, 25031852-25031856, 25031861, 25031873
682RPGRX0.85573865278982499345938145061-38145072, 38145254, 38145257-38145261, 38145264-38145265, 38145274-38145277, 38145287, 38145309-38145332, 38145350-38145739, 38145784-38145812, 38145920-38145927, 38145960-38145976, 38146154-38146159
683NYXX0.9688796680497945144641332782-41332785, 41332792-41332808, 41333111-41333113, 41333118, 41333317, 41333513-41333519, 41333546-41333557
684FOXP3X0.9768518518518530129649107865-49107866, 49108212-49108214, 49110514-49110523, 49114754, 49114757, 49114906-49114918
685FGD1X0.99584199584212288654521774-54521781, 54521829-54521832
686ARX0.9847991313789442276366765159-66765182, 66765185-66765201, 66765204
687EDAX0.994897959183676117669247797-69247802
688TAF1X0.9927842309046141568270586193-70586218, 70586244-70586249, 70586327-70586335
689BRWD3X0.998336106489189540980064943-80064951
690SOX3X0.9962714392244651341139586504, 139586507-139586509, 139586512
691FAM58AX0.9401360544217744735152864476-152864480, 152864483-152864521
692SLC6A8X0.901991614255771871908152954030-152954036, 152954061-152954077, 152954100-152954150, 152954158-152954269
693ABCD1X0.944593386952641242238152990733-152990748, 152990797-152990806, 152990839, 152990843-152990845, 152990850-152990851, 152990856-152990857, 152990889, 152990911-152990918, 152991055-152991071, 152991168, 152991230-152991256, 152991287-152991291, 152991356-152991360, 153002615-153002621, 153002638, 153002644-153002654, 153005568-153005570, 153008675-153008678
694L1CAMX0.98357180710122623774153135348-153135359, 153135370-153135375, 153135880-153135886, 153136512-153136531, 153137622-153137635, 153141253-153141255
695MECP2X0.96593186372745511497153363072-153363122
696FLNAX0.984013091641491277944153580944, 153580961-153580962, 153581392-153581395, 153582560, 153582655-153582656, 153586611-153586614, 153587659-153587662, 153587852-153587866, 153588128-153588142, 153588189-153588199, 153588452-153588461, 153590874, 153591040-153591045, 153592970-153592975, 153594481-153594491, 153594818-153594826, 153595832-153595835, 153596038-153596042, 153596243-153596245, 153599300-153599301, 153599576-153599586
697EMDX0.9633986928104628765153607861-153607866, 153608070-153608091
698G6PDX0.99267399267399121638153775071-153775082
699IKBKGX0.98565573770492211464153788659, 153788737-153788756
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5ITGB2-R586Whet unknown0.005Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.976 (probably damaging), Testable gene in GeneTests
2.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
2CHIT1-A442Ghomozygous0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2CHIT1-G102Shomozygous0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2ALAD-K59Nhet unknown0.059Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2SP110-M523Thomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
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
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-V2539Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2PKP2-S140Fhet unknown0.002Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-C34Yhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-T49ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-Q57Ehomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-R70QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-W71Lhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-E73LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-S75Rhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-K76Rhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-G78Rhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-G79RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-A92Lhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-M99VhomozygousUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-Q198Ehomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-F238LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-V474Ihet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5CETP-A390Phet unknown0.039Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests
1.5CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5CETP-R468Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
1.5FCGR2B-I232Thet unknown0.133Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5TLR4-D299Ghet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1.5TLR4-T399Ihet unknown0.047Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
1.5LRP5-V667Mhet unknown0.041Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5LRP5-V1311Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1.5LRP5-E1320Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1.125FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-K292Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WFS1-L233Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WFS1-R456Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SDHA-S45LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A832Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-L726ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PCSK1-S690Thomozygous0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehomozygous0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-M826Thet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-H487SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
1FANCF-D125Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.906 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CACNA1S-L1800Shet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-A69Ghet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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-K259Ehet unknownUnknown
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
1HRNR-S799Thomozygous0.725Unknown
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
1RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TMEM123-V86Fhomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RSPH4A-T149Shomozygous0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
1RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TGIF1-P292Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CEP290-R1746Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.871 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-P4912Ahet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
1SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC11-H1344Rhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABCC11-N1277Yhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1ABCC11-V648Ihet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.676 (possibly damaging)
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
1UMOD-V458Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), 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
1DGKK-D1111Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MAGEB6-R98Hhomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.766 (possibly damaging)
1MAGEB6-A100Vhomozygous0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign)
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AR-GGGGGGGGGGGG462DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADAM3A-L329ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAM3A-S296LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAM3A-R215GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PAK3-E220EEEEEEEDEhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1WWC3-R949Chomozygous0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.75AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
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
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF562-G141Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-R62Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM35A-L404Shifthet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FAM35A-S550Chomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.5ZNF708-H554Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZNF708-R130Qhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ZNF708-K113Ehet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ZNF708-A71Vhomozygous0.975Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-L1121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CNGB3-E755Ghet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-I307Vhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EMR2-S616Fhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.414Unknown
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
0.5MAN2B1-N413Shet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MPND-R235Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5BRD3-K435Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.897 (probably damaging)
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
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-E689Khet unknown0.030Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
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
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-V730Mhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.334 (possibly damaging), 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
0.5SLC6A5-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-D463Nhomozygous0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5SBF2-L1098Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WDR45L-H165Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PRLHR-P305Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.725 (possibly damaging)
0.5PRLHR-I283Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC29A3-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
0.5ZNF57-S56Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ZNF57-T223Nhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.654 (possibly damaging)
0.5GRIN3B-L423*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GRIN3B-G515Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GRIN3B-L521Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-G632Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-G626Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5TM7SF4-L397Fhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5GRHL2-K9Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG2-I293Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), 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-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTNNA3-S160Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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)
0.5EPHX1-H139Rhomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-D621Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-R1027Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.667 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MCEE-R104Lhomozygous0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2100Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2574Nhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-D2672Hhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5NEB-I6534Vhomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R3880Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPD1-G563Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-K207Rhet unknownUnknown
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
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5WNT10B-P301Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging)
0.5TTN-L29276Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K11752Ehet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R7050Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6352Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G5624Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADSS-K226Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYBPC2-V624Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYBPC2-I937Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYBPC2-R1089Hhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDH15-P1804Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGH-A31Thomozygous0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC8-D326Ghet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.947 (probably damaging)
0.5PLD3-V232Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5CD300LG-R82Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CD300LG-T228Ahet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5GAD2-P153Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.416 (possibly damaging)
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
0.5NLRP7-K511Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-S1634Ghomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCA1-E1172Dhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-M968Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FOXM1-P673Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.863 (probably damaging)
0.5AKAP6-E892Khet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging)
0.5AKAP6-N2035Dhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACIN1-S647SRShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S478Fhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.981 (probably damaging)
0.5ACIN1-S467Phet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhet unknown0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-E281Delhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACSM4-Q357*het unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAD52-S346*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-S1040Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5TRPM1-V1395Ihet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARHGAP11A-V410Ihet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.325 (possibly damaging)
0.5RPAP1-Q825Ehomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPAP1-R582Ghomozygous0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROBO3-A1062Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5ROBO3-RS1367Delhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLH3-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-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-P1823Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-I723Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UTP20-M120Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UTP20-S502Chet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.973 (probably damaging)
0.5UTP20-L1882Qhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSP90B1-P321Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5KIF21A-E1224Dhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5KRT83-C222*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5KRT6B-Y497Chet unknown0.041Unknown
not reviewed
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
0.5KRT6B-N21Shet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5DFNB31-V783Ahomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-T544Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5DIAPH3-P588Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RASAL1-R321Hhomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RASAL1-T58Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GYS2-M363Vhomozygous0.739Unknown
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
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG11-V270Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OR1E1-A143Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5C1QBP-T130Mhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5GALT-S15Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5GALT-N314Dhet unknown0.072Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AQP7-G264Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYBA-Y72Hhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-A23Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RHOD-C134Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHOD-R144Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TAF1C-R722Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-T298Ahomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-A187Vhet unknown0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-A146Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT14-A94Thomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHX58-N461Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP3-2-R27Chomozygous0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SERPING1-V480Mhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MYO15A-A545Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-S790Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5MYO15A-SE916LAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-A84Thet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-T222Mhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPC6-A404Vhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5TRPC6-P15Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCI-P55Lhet unknown0.051Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF151-V66Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RNF151-H130Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5RNF151-I242Vhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCDC81-H303Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.305 (possibly damaging)
0.5CCDC81-L558Rhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5BBS4-I354Thomozygous0.529Unknown
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
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSF1-R1163Qhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5RSF1-S475Phet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
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
0.5BBS2-I123Vhomozygous0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R913Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOD2-V955Ihet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ACSM5-H360Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AQP8-A212Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.313 (possibly damaging)
0.5AQP8-A260Phet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-R514Hhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.944 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PRRT2-P216Lhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CYBRD1-R226Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (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
0.5WDR36-A163Vhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests
0.5WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO6A1-A27Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.732Unknown
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-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), 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-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.735Unknown
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-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-M3526Thet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5IQGAP2-V455Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IQGAP2-D527Ehomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-K532Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-L629Fhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-I724Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP3B1-K804Delhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-H985Rhomozygous0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL12B-V298Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.84 (possibly damaging), Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARMC10-R29Whet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDHB16-R202Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PCDHB16-Q638Hhomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB10-D446Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PCDHB10-R543Shomozygous0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB10-EA684DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5OSMR-G578Dhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1324-H55Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1324-I86Vhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-T623Phet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-L1009Phet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBEAL1-Q2292Ehet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.708 (possibly damaging)
0.5NBEAL1-I2330Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBEAL1-T2492Ahet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIT-M541Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5DCK-P122Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MANBA-V253Ihomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TDO2-N229Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.851 (probably damaging)
0.5PDZD2-D6Nhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA4-N1868Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests
0.5ABCA4-H423Rhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSH4-Y589Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-N751Khet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR3-L412Fhomozygous0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5FAT1-K4059Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-T1585Mhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5FAT1-H1273Rhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-R1268Qhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAT1-R1064Ghomozygous0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V862Lhomozygous0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-F614Lhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V482Ihomozygous0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S404Rhomozygous0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRSS1-K170Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-S181Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-M183Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP4A22-R126Whet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-P385Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP4A22-L428Phet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NSD1-A691Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NSD1-A1036Phet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2250Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2261Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5AKAP12-K117Ehomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-K216Qhomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-S887Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5AKAP12-E1531EEhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKAP12-E1600Dhomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhomozygous0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahomozygous0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA2-G600Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-V1138Mhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DSE-T25Ihomozygous0.256Unknown
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)
0.5LMBRD1-D469Ehomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5ALDH4A1-P16Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-C187Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-P493Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CROCC-A609Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-R1097Phet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CROCC-V1110Mhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.5CROCC-T1361Ahet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-G1471Rhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-S1744Ghet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-T454Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRAMEF2-R33Shet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PRAMEF2-V67Ghet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRAMEF2-L122Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5CLCNKB-R27Lhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-E34Lhomozygous0.368Unknown
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-V3715Lhet unknown0.603Unknown
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
0.5DFNA5-A400Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNA5-V207Mhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests
0.5DFNA5-P142Thet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-G631Shet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-T120Mhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EFHC1-M448Thet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.578 (possibly damaging), Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A2-T246Mhet unknown0.025Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PSORS1C1-E34Khet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HLA-G-T55Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.254 (possibly damaging)
0.5HLA-G-T282Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (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
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR2Y1-V200Lhet unknown0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.784 (possibly damaging)
0.5OR2Y1-V154Mhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OR2Y1-R128Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5NRSN1-H104Yhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5ALDH5A1-H180Yhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH9-V261Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ENPP5-I171Vhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.139 (benign)
0.5ENPP5-I69Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ENPP5-R39Phet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ENPP5-L6Ihet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R3842Lhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-DQB1-A172Thomozygous0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH8-I573Vhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-G807Ehet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-E1202Khet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-I2563Thet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5DNAH8-I4271Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL6A2-F709Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-Y711Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LMOD3-R83Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ERC2-N542Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.212 (possibly damaging)
0.5ERC2-H240Qhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5RHBG-G76Dhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPOX-V294Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5COL6A1-R850Hhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTSA-D312Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CTSA-P375Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RETNLB-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
0.5SALL4-I798Lhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R668Qhomozygous0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5DNAH1-V441Lhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH1-R1285Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH1-I3480Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH1-R3744Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH1-G3801Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQCF2-R4Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5TMPRSS3-A90Thet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5TCN2-R215Whet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests
0.5TCN2-R259Phet unknown0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCN2-R413Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ETV3L-R151Whet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5COL18A1-A180Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-A288Thet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5SNRK-P391Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5SCN5A-F1950Lhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMPRSS15-P732Shomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMPRSS15-S308Fhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5TMPRSS15-E134Qhomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5CAPN7-A128Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYTL1-R136Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTT-I1091Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5BST1-R145Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5ZCCHC4-D72Hhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5ZCCHC4-L396Hhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USH2A-M3868Vhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihomozygous0.203Unknown
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-I2169Thomozygous0.481Unknown
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
0.5SPATA17-M165Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.853 (probably damaging)
0.5IDH1-Y183Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-N237Hhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5ASPM-Q2620Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-M1983Lhet unknownUnknown
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-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0649-R381Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA0649-N834Dhomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLC1-V791Mhomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLC1-R730Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DLC1-T260Ihet unknown0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLC1-QN254HDhet unknown0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLC1-R27Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TDRKH-G257Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging)
0.5DNAJC13-A1463Shet unknown0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAJC13-P1515Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG1L2-L157Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-L159Vhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CSRP2BP-V400Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CSRP2BP-P600Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MME-M8Vhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.068Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK057553-R31Chet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-C32Yhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-G38Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK057553-A40Thet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-A46Ehet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRFIP1-Q275Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRRFIP1-R690Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRRFIP1-H783Dhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5AGXT-P11Lhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN2-T668Shomozygous0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL6R-D358Ahomozygous0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5DEFB128-H62Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB128-K27Nhomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ATP6V1B1-I422Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PEX6-V138Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HMCN1-G1438Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.375HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.375FMO2-D71DDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375FMO2-F81Shet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-V113Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-N413Khet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375LRRC50-D435Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN1-A717Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.375ARSB-A33Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CTNS-D324Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ADAMTS13-Q448Ehet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ADAMTS13-E1005Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUC6-N1179Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-E626*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TH-V108Mhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITPKB-P552Qhomozygous0.958Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ITPKB-L82Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf92-V2256Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf92-E1114Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SMPD1-G508Rhet unknown0.200Unknown
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
0.25COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25SARDH-M648Vhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25DLAT-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
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-V4340Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-H3256Yhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-A1503Vhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CYP4B1-R138Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TIRAP-S180Lhet unknown0.115Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Frameshift, Testable gene in GeneTests
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Frameshift, Testable gene in GeneTests
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), 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
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25MLC1-C171Fhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MLL3-S3754Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MLL3-N729Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MLL3-I707Thet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MLL3-L687Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25MLL3-L291Fhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.25KCNQ2-N780Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25PDE6B-V320Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PDE6B-YDKMNKL435FDKMNRQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25KCNK15-E95Ghet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNK15-T260Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KCNK15-L323Phet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-S118Nhet unknown0.223Unknown
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
0.25NM_001029996-R135*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NM_001029996-V351Ihomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TMEM185B-P342Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMEM185B-A42Ghomozygous0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.094 (benign)
0.25CFC1-W78Ahet unknown0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CFC1-W78Ahet unknown0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.25PCDH7-S219Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PCDH7-A1105Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR1-R80Thet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-T67Rhet unknown0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-G263Chet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-P260Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TSPYL1-V176VVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TSPYL1-A74Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TSPYL1-P61Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELN-G581Rhet unknown0.073Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MSX2-M129Thet unknown0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C4orf21-G466*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C4orf21-N410ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A4-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
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK126213-A234Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK126213-M228Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK126213-I216Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEXB-L62Shet unknown0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LOXL1-R141Lhet unknown0.256Complex/Other
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25AX747619-W176Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AX747619-E64Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25CDH3-Q563Hhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25CDH3-W651*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC12-R1117Chomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC12-L630Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATP10A-R1298Shet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP10A-Q554Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25JAG2-G489*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25JAG2-E463Khet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HPD-T33Ahet unknown0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ZNF462-A99Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF462-Q1103Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C14orf184-E123Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C14orf184-A73Shet 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-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR108-K495*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GPR108-L79Phet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GPR108-Q36Rhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KDM4B-K710Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KDM4B-C869*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25GTF2IRD2P1-R561*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GTF2IRD2P1-K269Ehet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH3-H1133Qhet unknown0.013Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ANKLE1-A31Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKLE1-L35*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ANKLE1-A71Vhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKLE1-L184Whet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKLE1-T311Phomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKLE1-Q435Rhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C19orf48-G104Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C19orf48-R84Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C19orf48-E79Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C19orf48-CD73KNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25CNN2-P224Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CNN2-R227Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CNN2-TD237INhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TBX4-G6Ahet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.25DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC5A10-H243Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC5A10-D248Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC5A10-R414RYGGGGRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSC3-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
0.25PRCD-M224Vhomozygous0.397Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRCD-C231Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.125CYP4F2-V433Mhet unknown0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.125CYP4F2-G185Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.263 (possibly damaging)
0.125CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0HPS1-M325Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MBL2-R52Chet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0MSH6-F1088Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0GAMT-N15Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0VCP-N616Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,758,829,441 bases (96.5% of callable positions, 89.6% of total positions)

Coding region coverage: 31,510,805 bases (94.7% of all genes, 95.8% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in