Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387777G>ACA473515775KCNJ11c.87C>T (p.Gly29=)
c.54C>T (p.Gly18=)
c.315C>T (p.Gly105=)
c.332C>T
n.473C>T
11g.17387777G>CCA473515776KCNJ11c.87C>G (p.Gly29=)
c.54C>G (p.Gly18=)
c.315C>G (p.Gly105=)
c.332C>G
n.473C>G
11g.17387777G>TCA473515777KCNJ11c.87C>A (p.Gly29=)
c.54C>A (p.Gly18=)
c.315C>A (p.Gly105=)
c.332C>A
n.473C>A
11g.17387778C>ACA379774496KCNJ11c.86G>T (p.Gly29Val)
c.53G>T (p.Gly18Val)
c.314G>T (p.Gly105Val)
c.331G>T
n.472G>T
 dbSNP
11g.17387778C=CA1955119387KCNJ11c.86G= (p.Gly29=)
c.53G= (p.Gly18=)
c.314G= (p.Gly105=)
c.331G=
n.472G=
11g.17387778C>GCA379774498KCNJ11c.86G>C (p.Gly29Ala)
c.53G>C (p.Gly18Ala)
c.314G>C (p.Gly105Ala)
c.331G>C
n.472G>C
11g.17387778C>TCA379774501KCNJ11c.86G>A (p.Gly29Asp)
c.53G>A (p.Gly18Asp)
c.314G>A (p.Gly105Asp)
c.331G>A
n.472G>A
11g.17387779C>ACA379774504KCNJ11c.85G>T (p.Gly29Cys)
c.52G>T (p.Gly18Cys)
c.313G>T (p.Gly105Cys)
c.330G>T
n.471G>T
11g.17387779C>GCA379774508KCNJ11c.85G>C (p.Gly29Arg)
c.52G>C (p.Gly18Arg)
c.313G>C (p.Gly105Arg)
c.330G>C
n.471G>C
11g.17387779C>TCA379774505KCNJ11c.85G>A (p.Gly29Ser)
c.52G>A (p.Gly18Ser)
c.313G>A (p.Gly105Ser)
c.330G>A
n.471G>A
11g.17387779_17387780insGGGCA2790574801KCNJ11c.84_85insCCC (p.Glu28_Gly29insPro)
c.51_52insCCC (p.Glu17_Gly18insPro)
c.312_313insCCC (p.Glu104_Gly105insPro)
c.329_330insCCC
n.470_471insCCC
11g.17387780C>ACA379774512KCNJ11c.84G>T (p.Glu28Asp)
c.51G>T (p.Glu17Asp)
c.312G>T (p.Glu104Asp)
c.329G>T
n.470G>T
11g.17387780C>GCA379774513KCNJ11c.84G>C (p.Glu28Asp)
c.51G>C (p.Glu17Asp)
c.312G>C (p.Glu104Asp)
c.329G>C
n.470G>C
 gnomAD v4
11g.17387780C>TCA473515778KCNJ11c.84G>A (p.Glu28=)
c.51G>A (p.Glu17=)
c.312G>A (p.Glu104=)
c.329G>A
n.470G>A
11g.17387781T>ACA379774517KCNJ11c.83A>T (p.Glu28Val)
c.50A>T (p.Glu17Val)
c.311A>T (p.Glu104Val)
c.328A>T
n.469A>T
11g.17387781T>CCA379774519KCNJ11c.83A>G (p.Glu28Gly)
c.50A>G (p.Glu17Gly)
c.311A>G (p.Glu104Gly)
c.328A>G
n.469A>G
11g.17387781T>GCA379774522KCNJ11c.83A>C (p.Glu28Ala)
c.50A>C (p.Glu17Ala)
c.311A>C (p.Glu104Ala)
c.328A>C
n.469A>C
11g.17387781_17387782insGCA2790574802KCNJ11c.82_83insC (p.Glu28AlafsTer5)
c.49_50insC (p.Glu17AlafsTer5)
c.310_311insC (p.Glu104AlafsTer5)
c.327_328insC
n.468_469insC
11g.17387782C>ACA379774529KCNJ11c.82G>T (p.Glu28Ter)
c.49G>T (p.Glu17Ter)
c.310G>T (p.Glu104Ter)
c.327G>T
n.468G>T
11g.17387782C=CA1955119388KCNJ11c.82G= (p.Glu28=)
c.49G= (p.Glu17=)
c.310G= (p.Glu104=)
c.327G=
n.468G=
11g.17387782C>GCA379774531KCNJ11c.82G>C (p.Glu28Gln)
c.49G>C (p.Glu17Gln)
c.310G>C (p.Glu104Gln)
c.327G>C
n.468G>C
 dbSNP
11g.17387782C>TCA5902303KCNJ11c.82G>A (p.Glu28Lys)
c.49G>A (p.Glu17Lys)
c.310G>A (p.Glu104Lys)
c.327G>A
n.468G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387783G>ACA5902304KCNJ11c.81C>T (p.Ser27=)
c.48C>T (p.Ser16=)
c.309C>T (p.Ser103=)
c.326C>T
n.467C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387783G>CCA379774536KCNJ11c.81C>G (p.Ser27Arg)
c.48C>G (p.Ser16Arg)
c.309C>G (p.Ser103Arg)
c.326C>G
n.467C>G
11g.17387783G=CA1955119389KCNJ11c.81C= (p.Ser27=)
c.48C= (p.Ser16=)
c.309C= (p.Ser103=)
c.326C=
n.467C=
11g.17387783G>TCA5902305KCNJ11c.81C>A (p.Ser27Arg)
c.48C>A (p.Ser16Arg)
c.309C>A (p.Ser103Arg)
c.326C>A
n.467C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387784C>ACA218400013KCNJ11c.80G>T (p.Ser27Ile)
c.47G>T (p.Ser16Ile)
c.308G>T (p.Ser103Ile)
c.325G>T
n.466G>T
 dbSNP gnomAD v3 gnomAD v4
11g.17387784C=CA1955119390KCNJ11c.80G= (p.Ser27=)
c.47G= (p.Ser16=)
c.308G= (p.Ser103=)
c.325G=
n.466G=
11g.17387784C>GCA379774552KCNJ11c.80G>C (p.Ser27Thr)
c.47G>C (p.Ser16Thr)
c.308G>C (p.Ser103Thr)
c.325G>C
n.466G>C
11g.17387784C>TCA379774550KCNJ11c.80G>A (p.Ser27Asn)
c.47G>A (p.Ser16Asn)
c.308G>A (p.Ser103Asn)
c.325G>A
n.466G>A
 dbSNP gnomAD v4
11g.17387785T>ACA379774555KCNJ11c.79A>T (p.Ser27Cys)
c.46A>T (p.Ser16Cys)
c.307A>T (p.Ser103Cys)
c.324A>T
n.465A>T
11g.17387785T>CCA379774559KCNJ11c.79A>G (p.Ser27Gly)
c.46A>G (p.Ser16Gly)
c.307A>G (p.Ser103Gly)
c.324A>G
n.465A>G
11g.17387785T>GCA379774561KCNJ11c.79A>C (p.Ser27Arg)
c.46A>C (p.Ser16Arg)
c.307A>C (p.Ser103Arg)
c.324A>C
n.465A>C
11g.17387786G>ACA5902306KCNJ11c.78C>T (p.Pro26=)
c.45C>T (p.Pro15=)
c.306C>T (p.Pro102=)
c.323C>T
n.464C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387786G>CCA473515780KCNJ11c.78C>G (p.Pro26=)
c.45C>G (p.Pro15=)
c.306C>G (p.Pro102=)
c.323C>G
n.464C>G
11g.17387786G=CA1955119391KCNJ11c.78C= (p.Pro26=)
c.45C= (p.Pro15=)
c.306C= (p.Pro102=)
c.323C=
n.464C=
11g.17387786G>TCA473515779KCNJ11c.78C>A (p.Pro26=)
c.45C>A (p.Pro15=)
c.306C>A (p.Pro102=)
c.323C>A
n.464C>A
 dbSNP
11g.17387790delCA645577918KCNJ11c.78del (p.Ser27AlafsTer27)
c.45del (p.Ser16AlafsTer27)
c.306del (p.Ser103AlafsTer27)
c.323del
n.464del
 COSMIC
11g.17387786_17387787insCACA2790574807KCNJ11c.77_78insTG (p.Ser27AlafsTer28)
c.44_45insTG (p.Ser16AlafsTer28)
c.305_306insTG (p.Ser103AlafsTer28)
c.322_323insTG
n.463_464insTG
11g.17387787G>ACA379774570KCNJ11c.77C>T (p.Pro26Leu)
c.44C>T (p.Pro15Leu)
c.305C>T (p.Pro102Leu)
c.322C>T
n.463C>T
 dbSNP gnomAD v3 gnomAD v4
11g.17387787G>CCA379774572KCNJ11c.77C>G (p.Pro26Arg)
c.44C>G (p.Pro15Arg)
c.305C>G (p.Pro102Arg)
c.322C>G
n.463C>G
 gnomAD v4
11g.17387787G=CA1955119392KCNJ11c.77C= (p.Pro26=)
c.44C= (p.Pro15=)
c.305C= (p.Pro102=)
c.322C=
n.463C=
11g.17387787G>TCA379774576KCNJ11c.77C>A (p.Pro26His)
c.44C>A (p.Pro15His)
c.305C>A (p.Pro102His)
c.322C>A
n.463C>A
11g.17387787_17387788insCCCA2790574808KCNJ11c.76_77insGG (p.Pro26ArgfsTer29)
c.43_44insGG (p.Pro15ArgfsTer29)
c.304_305insGG (p.Pro102ArgfsTer29)
c.321_322insGG
n.462_463insGG
11g.17387788G>ACA379774580KCNJ11c.76C>T (p.Pro26Ser)
c.43C>T (p.Pro15Ser)
c.304C>T (p.Pro102Ser)
c.321C>T
n.462C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387788G>CCA379774581KCNJ11c.76C>G (p.Pro26Ala)
c.43C>G (p.Pro15Ala)
c.304C>G (p.Pro102Ala)
c.321C>G
n.462C>G
11g.17387788G=CA1955119393KCNJ11c.76C= (p.Pro26=)
c.43C= (p.Pro15=)
c.304C= (p.Pro102=)
c.321C=
n.462C=
11g.17387788G>TCA379774582KCNJ11c.76C>A (p.Pro26Thr)
c.43C>A (p.Pro15Thr)
c.304C>A (p.Pro102Thr)
c.321C>A
n.462C>A
 gnomAD v4
11g.17387789G>ACA5902307KCNJ11c.75C>T (p.Ala25=)
c.42C>T (p.Ala14=)
c.303C>T (p.Ala101=)
c.320C>T
n.461C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387789G>CCA473515781KCNJ11c.75C>G (p.Ala25=)
c.42C>G (p.Ala14=)
c.303C>G (p.Ala101=)
c.320C>G
n.461C>G
11g.17387789G=CA1955119394KCNJ11c.75C= (p.Ala25=)
c.42C= (p.Ala14=)
c.303C= (p.Ala101=)
c.320C=
n.461C=
11g.17387789G>TCA473515782KCNJ11c.75C>A (p.Ala25=)
c.42C>A (p.Ala14=)
c.303C>A (p.Ala101=)
c.320C>A
n.461C>A
11g.17387790G>ACA379774597KCNJ11c.74C>T (p.Ala25Val)
c.41C>T (p.Ala14Val)
c.302C>T (p.Ala101Val)
c.319C>T
n.460C>T
11g.17387790G>CCA379774592KCNJ11c.74C>G (p.Ala25Gly)
c.41C>G (p.Ala14Gly)
c.302C>G (p.Ala101Gly)
c.319C>G
n.460C>G
 dbSNP gnomAD v2 gnomAD v4
11g.17387790G=CA1955119395KCNJ11c.74C= (p.Ala25=)
c.41C= (p.Ala14=)
c.302C= (p.Ala101=)
c.319C=
n.460C=
11g.17387790G>TCA218400036KCNJ11c.74C>A (p.Ala25Asp)
c.41C>A (p.Ala14Asp)
c.302C>A (p.Ala101Asp)
c.319C>A
n.460C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387790_17387791insTGCCGTGGTCA2790574813KCNJ11c.73_74insACCACGGCA (p.Ala25delinsAspHisGlyThr)
c.40_41insACCACGGCA (p.Ala14delinsAspHisGlyThr)
c.301_302insACCACGGCA (p.Ala101delinsAspHisGlyThr)
c.318_319insACCACGGCA
n.459_460insACCACGGCA
11g.17387791C>ACA379774603KCNJ11c.73G>T (p.Ala25Ser)
c.40G>T (p.Ala14Ser)
c.301G>T (p.Ala101Ser)
c.318G>T
n.459G>T
 dbSNP gnomAD v3 gnomAD v4
11g.17387791C=CA1955119396KCNJ11c.73G= (p.Ala25=)
c.40G= (p.Ala14=)
c.301G= (p.Ala101=)
c.318G=
n.459G=
11g.17387791C>GCA379774606KCNJ11c.73G>C (p.Ala25Pro)
c.40G>C (p.Ala14Pro)
c.301G>C (p.Ala101Pro)
c.318G>C
n.459G>C
11g.17387791C>TCA379774610KCNJ11c.73G>A (p.Ala25Thr)
c.40G>A (p.Ala14Thr)
c.301G>A (p.Ala101Thr)
c.318G>A
n.459G>A
11g.17387792C>ACA473515783KCNJ11c.72G>T (p.Leu24=)
c.39G>T (p.Leu13=)
c.300G>T (p.Leu100=)
c.317G>T
n.458G>T
11g.17387792C>GCA473515784KCNJ11c.72G>C (p.Leu24=)
c.39G>C (p.Leu13=)
c.300G>C (p.Leu100=)
c.317G>C
n.458G>C
11g.17387792C>TCA473515785KCNJ11c.72G>A (p.Leu24=)
c.39G>A (p.Leu13=)
c.300G>A (p.Leu100=)
c.317G>A
n.458G>A
11g.17387793A>CCA379774615KCNJ11c.71T>G (p.Leu24Arg)
c.38T>G (p.Leu13Arg)
c.299T>G (p.Leu100Arg)
c.316T>G
n.457T>G
11g.17387793A>GCA379774618KCNJ11c.71T>C (p.Leu24Pro)
c.38T>C (p.Leu13Pro)
c.299T>C (p.Leu100Pro)
c.316T>C
n.457T>C
 gnomAD v4
11g.17387793A>TCA379774623KCNJ11c.71T>A (p.Leu24Gln)
c.38T>A (p.Leu13Gln)
c.299T>A (p.Leu100Gln)
c.316T>A
n.457T>A
11g.17387793_17387794delinsAGCA1955119397KCNJ11c.70_71delinsCT (p.Leu24=)
c.37_38delinsCT (p.Leu13=)
c.298_299delinsCT (p.Leu100=)
c.315_316delinsCT
n.456_457delinsCT
11g.17387794G>ACA473515786KCNJ11c.70C>T (p.Leu24=)
c.37C>T (p.Leu13=)
c.298C>T (p.Leu100=)
c.315C>T
n.456C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17387794G>CCA379774628KCNJ11c.70C>G (p.Leu24Val)
c.37C>G (p.Leu13Val)
c.298C>G (p.Leu100Val)
c.315C>G
n.456C>G
11g.17387794G=CA1955119398KCNJ11c.70C= (p.Leu24=)
c.37C= (p.Leu13=)
c.298C= (p.Leu100=)
c.315C=
n.456C=
11g.17387794G>TCA379774631KCNJ11c.70C>A (p.Leu24Met)
c.37C>A (p.Leu13Met)
c.298C>A (p.Leu100Met)
c.315C>A
n.456C>A
11g.17387795delCA5902308KCNJ11c.70del (p.Leu24TrpfsTer30)
c.37del (p.Leu13TrpfsTer30)
c.298del (p.Leu100TrpfsTer30)
c.315del
n.456del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387795G>ACA473515787KCNJ11c.69C>T (p.Asp23=)
c.36C>T (p.Asp12=)
c.297C>T (p.Asp99=)
c.314C>T
n.455C>T
11g.17387795G>CCA379774650KCNJ11c.69C>G (p.Asp23Glu)
c.36C>G (p.Asp12Glu)
c.297C>G (p.Asp99Glu)
c.314C>G
n.455C>G
11g.17387795G>TCA379774653KCNJ11c.69C>A (p.Asp23Glu)
c.36C>A (p.Asp12Glu)
c.297C>A (p.Asp99Glu)
c.314C>A
n.455C>A
11g.17387796T>ACA379774668KCNJ11c.68A>T (p.Asp23Val)
c.35A>T (p.Asp12Val)
c.296A>T (p.Asp99Val)
c.313A>T
n.454A>T
11g.17387796T>CCA379774665KCNJ11c.68A>G (p.Asp23Gly)
c.35A>G (p.Asp12Gly)
c.296A>G (p.Asp99Gly)
c.313A>G
n.454A>G
 gnomAD v4
11g.17387796T>GCA379774659KCNJ11c.68A>C (p.Asp23Ala)
c.35A>C (p.Asp12Ala)
c.296A>C (p.Asp99Ala)
c.313A>C
n.454A>C
11g.17387797C>ACA379774673KCNJ11c.67G>T (p.Asp23Tyr)
c.34G>T (p.Asp12Tyr)
c.295G>T (p.Asp99Tyr)
c.312G>T
n.453G>T
11g.17387797C>GCA379774678KCNJ11c.67G>C (p.Asp23His)
c.34G>C (p.Asp12His)
c.295G>C (p.Asp99His)
c.312G>C
n.453G>C
11g.17387797C>TCA379774680KCNJ11c.67G>A (p.Asp23Asn)
c.34G>A (p.Asp12Asn)
c.295G>A (p.Asp99Asn)
c.312G>A
n.453G>A
 gnomAD v4
11g.17387798A>CCA473515788KCNJ11c.66T>G (p.Gly22=)
c.33T>G (p.Gly11=)
c.294T>G (p.Gly98=)
c.311T>G
n.452T>G
11g.17387798A>GCA473515789KCNJ11c.66T>C (p.Gly22=)
c.33T>C (p.Gly11=)
c.294T>C (p.Gly98=)
c.311T>C
n.452T>C
11g.17387798A>TCA473515790KCNJ11c.66T>A (p.Gly22=)
c.33T>A (p.Gly11=)
c.294T>A (p.Gly98=)
c.311T>A
n.452T>A
11g.17387799C>ACA379774684KCNJ11c.65G>T (p.Gly22Val)
c.32G>T (p.Gly11Val)
c.293G>T (p.Gly98Val)
c.310G>T
n.451G>T
11g.17387799C=CA1955119399KCNJ11c.65G= (p.Gly22=)
c.32G= (p.Gly11=)
c.293G= (p.Gly98=)
c.310G=
n.451G=
11g.17387799C>GCA379774687KCNJ11c.65G>C (p.Gly22Ala)
c.32G>C (p.Gly11Ala)
c.293G>C (p.Gly98Ala)
c.310G>C
n.451G>C
11g.17387799C>TCA5902309KCNJ11c.65G>A (p.Gly22Asp)
c.32G>A (p.Gly11Asp)
c.293G>A (p.Gly98Asp)
c.310G>A
n.451G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387799_17387800delinsTTCA645577919KCNJ11c.64_65delinsAA (p.Gly22Asn)
c.31_32delinsAA (p.Gly11Asn)
c.292_293delinsAA (p.Gly98Asn)
c.309_310delinsAA
n.450_451delinsAA
 COSMIC
11g.17387800C>ACA379774696KCNJ11c.64G>T (p.Gly22Cys)
c.31G>T (p.Gly11Cys)
c.292G>T (p.Gly98Cys)
c.309G>T
n.450G>T
11g.17387800C=CA1955119400KCNJ11c.64G= (p.Gly22=)
c.31G= (p.Gly11=)
c.292G= (p.Gly98=)
c.309G=
n.450G=
11g.17387800C>GCA379774700KCNJ11c.64G>C (p.Gly22Arg)
c.31G>C (p.Gly11Arg)
c.292G>C (p.Gly98Arg)
c.309G>C
n.450G>C
11g.17387800C>TCA379774702KCNJ11c.64G>A (p.Gly22Ser)
c.31G>A (p.Gly11Ser)
c.292G>A (p.Gly98Ser)
c.309G>A
n.450G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.17387801G>ACA5902310KCNJ11c.63C>T (p.His21=)
c.30C>T (p.His10=)
c.291C>T (p.His97=)
c.308C>T
n.449C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387801G>CCA379774712KCNJ11c.63C>G (p.His21Gln)
c.30C>G (p.His10Gln)
c.291C>G (p.His97Gln)
c.308C>G
n.449C>G
11g.17387801G=CA1955119401KCNJ11c.63C= (p.His21=)
c.30C= (p.His10=)
c.291C= (p.His97=)
c.308C=
n.449C=
11g.17387801G>TCA5902311KCNJ11c.63C>A (p.His21Gln)
c.30C>A (p.His10Gln)
c.291C>A (p.His97Gln)
c.308C>A
n.449C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387801dupCA912971885KCNJ11c.63dup (p.Gly22ArgfsTer2)
c.30dup (p.Gly11ArgfsTer2)
c.291dup (p.Gly98ArgfsTer2)
c.308dup
n.449dup
11g.17387802T>ACA379774744KCNJ11c.62A>T (p.His21Leu)
c.29A>T (p.His10Leu)
c.290A>T (p.His97Leu)
c.307A>T
n.448A>T
11g.17387802T>CCA379774742KCNJ11c.62A>G (p.His21Arg)
c.29A>G (p.His10Arg)
c.290A>G (p.His97Arg)
c.307A>G
n.448A>G
11g.17387802T>GCA379774738KCNJ11c.62A>C (p.His21Pro)
c.29A>C (p.His10Pro)
c.290A>C (p.His97Pro)
c.307A>C
n.448A>C
11g.17387802dupCA658822456KCNJ11c.62dup (p.His21GlnfsTer3)
c.29dup (p.His10GlnfsTer3)
c.290dup (p.His97GlnfsTer3)
c.307dup
n.448dup
 ClinVar dbSNP
11g.17387803G>ACA379774748KCNJ11c.61C>T (p.His21Tyr)
c.28C>T (p.His10Tyr)
c.289C>T (p.His97Tyr)
c.306C>T
n.447C>T
 gnomAD v4
11g.17387803G>CCA379774751KCNJ11c.61C>G (p.His21Asp)
c.28C>G (p.His10Asp)
c.289C>G (p.His97Asp)
c.306C>G
n.447C>G
11g.17387803G>TCA379774755KCNJ11c.61C>A (p.His21Asn)
c.28C>A (p.His10Asn)
c.289C>A (p.His97Asn)
c.306C>A
n.447C>A
11g.17387804G>ACA473515791KCNJ11c.60C>T (p.Ala20=)
c.27C>T (p.Ala9=)
c.288C>T (p.Ala96=)
c.305C>T
n.446C>T
11g.17387804G>CCA473515792KCNJ11c.60C>G (p.Ala20=)
c.27C>G (p.Ala9=)
c.288C>G (p.Ala96=)
c.305C>G
n.446C>G
11g.17387804G>TCA473515793KCNJ11c.60C>A (p.Ala20=)
c.27C>A (p.Ala9=)
c.288C>A (p.Ala96=)
c.305C>A
n.446C>A
11g.17387804_17387805delinsCACA2695213249KCNJ11c.59_60delinsTG (p.Ala20Val)
c.26_27delinsTG (p.Ala9Val)
c.287_288delinsTG (p.Ala96Val)
c.304_305delinsTG
n.445_446delinsTG
11g.17387805G>ACA379774758KCNJ11c.59C>T (p.Ala20Val)
c.26C>T (p.Ala9Val)
c.287C>T (p.Ala96Val)
c.304C>T
n.445C>T
 gnomAD v4
11g.17387805G>CCA379774761KCNJ11c.59C>G (p.Ala20Gly)
c.26C>G (p.Ala9Gly)
c.287C>G (p.Ala96Gly)
c.304C>G
n.445C>G
11g.17387805G>TCA379774764KCNJ11c.59C>A (p.Ala20Asp)
c.26C>A (p.Ala9Asp)
c.287C>A (p.Ala96Asp)
c.304C>A
n.445C>A
11g.17387806C>ACA379774771KCNJ11c.58G>T (p.Ala20Ser)
c.25G>T (p.Ala9Ser)
c.286G>T (p.Ala96Ser)
c.303G>T
n.444G>T
 gnomAD v4
11g.17387806C=CA1955119402KCNJ11c.58G= (p.Ala20=)
c.25G= (p.Ala9=)
c.286G= (p.Ala96=)
c.303G=
n.444G=
11g.17387806C>GCA379774775KCNJ11c.58G>C (p.Ala20Pro)
c.25G>C (p.Ala9Pro)
c.286G>C (p.Ala96Pro)
c.303G>C
n.444G>C
11g.17387806C>TCA5902312KCNJ11c.58G>A (p.Ala20Thr)
c.25G>A (p.Ala9Thr)
c.286G>A (p.Ala96Thr)
c.303G>A
n.444G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387807G>ACA5902313KCNJ11c.57C>T (p.Phe19=)
c.24C>T (p.Phe8=)
c.285C>T (p.Phe95=)
c.302C>T
n.443C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387807G>CCA379774782KCNJ11c.57C>G (p.Phe19Leu)
c.24C>G (p.Phe8Leu)
c.285C>G (p.Phe95Leu)
c.302C>G
n.443C>G
11g.17387807G=CA1955119403KCNJ11c.57C= (p.Phe19=)
c.24C= (p.Phe8=)
c.285C= (p.Phe95=)
c.302C=
n.443C=
11g.17387807G>TCA379774783KCNJ11c.57C>A (p.Phe19Leu)
c.24C>A (p.Phe8Leu)
c.285C>A (p.Phe95Leu)
c.302C>A
n.443C>A
11g.17387808A>CCA379774794KCNJ11c.56T>G (p.Phe19Cys)
c.23T>G (p.Phe8Cys)
c.284T>G (p.Phe95Cys)
c.301T>G
n.442T>G
11g.17387808A>GCA379774791KCNJ11c.56T>C (p.Phe19Ser)
c.23T>C (p.Phe8Ser)
c.284T>C (p.Phe95Ser)
c.301T>C
n.442T>C
11g.17387808A>TCA379774787KCNJ11c.56T>A (p.Phe19Tyr)
c.23T>A (p.Phe8Tyr)
c.284T>A (p.Phe95Tyr)
c.301T>A
n.442T>A
11g.17387809A>CCA379774798KCNJ11c.55T>G (p.Phe19Val)
c.22T>G (p.Phe8Val)
c.283T>G (p.Phe95Val)
c.300T>G
n.441T>G
11g.17387809A>GCA379774801KCNJ11c.55T>C (p.Phe19Leu)
c.22T>C (p.Phe8Leu)
c.283T>C (p.Phe95Leu)
c.300T>C
n.441T>C
11g.17387809A>TCA379774805KCNJ11c.55T>A (p.Phe19Ile)
c.22T>A (p.Phe8Ile)
c.283T>A (p.Phe95Ile)
c.300T>A
n.441T>A
11g.17387810G>ACA473515794KCNJ11c.54C>T (p.Ala18=)
c.21C>T (p.Ala7=)
c.282C>T (p.Ala94=)
c.299C>T
n.440C>T
11g.17387810G>CCA473515795KCNJ11c.54C>G (p.Ala18=)
c.21C>G (p.Ala7=)
c.282C>G (p.Ala94=)
c.299C>G
n.440C>G
11g.17387810G>TCA473515796KCNJ11c.54C>A (p.Ala18=)
c.21C>A (p.Ala7=)
c.282C>A (p.Ala94=)
c.299C>A
n.440C>A
11g.17387811G>ACA379774810KCNJ11c.53C>T (p.Ala18Val)
c.20C>T (p.Ala7Val)
c.281C>T (p.Ala94Val)
c.298C>T
n.439C>T
 gnomAD v4
11g.17387811G>CCA379774814KCNJ11c.53C>G (p.Ala18Gly)
c.20C>G (p.Ala7Gly)
c.281C>G (p.Ala94Gly)
c.298C>G
n.439C>G
11g.17387811G>TCA379774818KCNJ11c.53C>A (p.Ala18Asp)
c.20C>A (p.Ala7Asp)
c.281C>A (p.Ala94Asp)
c.298C>A
n.439C>A
 gnomAD v3 gnomAD v4
11g.17387812C>ACA379774838KCNJ11c.52G>T (p.Ala18Ser)
c.19G>T (p.Ala7Ser)
c.280G>T (p.Ala94Ser)
c.297G>T
n.438G>T
 gnomAD v4
11g.17387812C=CA1955119404KCNJ11c.52G= (p.Ala18=)
c.19G= (p.Ala7=)
c.280G= (p.Ala94=)
c.297G=
n.438G=
11g.17387812C>GCA379774824KCNJ11c.52G>C (p.Ala18Pro)
c.19G>C (p.Ala7Pro)
c.280G>C (p.Ala94Pro)
c.297G>C
n.438G>C
 gnomAD v4
11g.17387812C>TCA5902314KCNJ11c.52G>A (p.Ala18Thr)
c.19G>A (p.Ala7Thr)
c.280G>A (p.Ala94Thr)
c.297G>A
n.438G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387813G>ACA5902315KCNJ11c.51C>T (p.Ile17=)
c.18C>T (p.Ile6=)
c.279C>T (p.Ile93=)
c.296C>T
n.437C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387813G>CCA379774846KCNJ11c.51C>G (p.Ile17Met)
c.18C>G (p.Ile6Met)
c.279C>G (p.Ile93Met)
c.296C>G
n.437C>G
11g.17387813G=CA1955119405KCNJ11c.51C= (p.Ile17=)
c.18C= (p.Ile6=)
c.279C= (p.Ile93=)
c.296C=
n.437C=
11g.17387813G>TCA473515797KCNJ11c.51C>A (p.Ile17=)
c.18C>A (p.Ile6=)
c.279C>A (p.Ile93=)
c.296C>A
n.437C>A
 gnomAD v4
11g.17387813dupCA2574767941KCNJ11c.51dup (p.Ala18ArgfsTer6)
c.18dup (p.Ala7ArgfsTer6)
c.279dup (p.Ala94ArgfsTer6)
c.296dup
n.437dup
 ClinVar
11g.17387815_17387817dupCA2695213250KCNJ11c.49_51dup (p.Ile17_Ala18insIle)
c.16_18dup (p.Ile6_Ala7insIle)
c.277_279dup (p.Ile93_Ala94insIle)
c.294_296dup
n.435_437dup
11g.17387814A>CCA379774850KCNJ11c.50T>G (p.Ile17Ser)
c.17T>G (p.Ile6Ser)
c.278T>G (p.Ile93Ser)
c.295T>G
n.436T>G
11g.17387814A>GCA379774854KCNJ11c.50T>C (p.Ile17Thr)
c.17T>C (p.Ile6Thr)
c.278T>C (p.Ile93Thr)
c.295T>C
n.436T>C
11g.17387814A>TCA379774858KCNJ11c.50T>A (p.Ile17Asn)
c.17T>A (p.Ile6Asn)
c.278T>A (p.Ile93Asn)
c.295T>A
n.436T>A
11g.17387815T>ACA379774873KCNJ11c.49A>T (p.Ile17Phe)
c.16A>T (p.Ile6Phe)
c.277A>T (p.Ile93Phe)
c.294A>T
n.435A>T
11g.17387815T>CCA379774866KCNJ11c.49A>G (p.Ile17Val)
c.16A>G (p.Ile6Val)
c.277A>G (p.Ile93Val)
c.294A>G
n.435A>G
11g.17387815T>GCA379774870KCNJ11c.49A>C (p.Ile17Leu)
c.16A>C (p.Ile6Leu)
c.277A>C (p.Ile93Leu)
c.294A>C
n.435A>C
11g.17387816G>ACA5902316KCNJ11c.48C>T (p.Leu16=)
c.15C>T (p.Leu5=)
c.276C>T (p.Leu92=)
c.293C>T
n.434C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387816G>CCA473515799KCNJ11c.48C>G (p.Leu16=)
c.15C>G (p.Leu5=)
c.276C>G (p.Leu92=)
c.293C>G
n.434C>G
11g.17387816G=CA1955119406KCNJ11c.48C= (p.Leu16=)
c.15C= (p.Leu5=)
c.276C= (p.Leu92=)
c.293C=
n.434C=
11g.17387816G>TCA473515798KCNJ11c.48C>A (p.Leu16=)
c.15C>A (p.Leu5=)
c.276C>A (p.Leu92=)
c.293C>A
n.434C>A
11g.17387817A>CCA379774883KCNJ11c.47T>G (p.Leu16Arg)
c.14T>G (p.Leu5Arg)
c.275T>G (p.Leu92Arg)
c.292T>G
n.433T>G
11g.17387817A>GCA379774897KCNJ11c.47T>C (p.Leu16Pro)
c.14T>C (p.Leu5Pro)
c.275T>C (p.Leu92Pro)
c.292T>C
n.433T>C
11g.17387817A>TCA379774900KCNJ11c.47T>A (p.Leu16His)
c.14T>A (p.Leu5His)
c.275T>A (p.Leu92His)
c.292T>A
n.433T>A
11g.17387818G>ACA379774906KCNJ11c.46C>T (p.Leu16Phe)
c.13C>T (p.Leu5Phe)
c.274C>T (p.Leu92Phe)
c.291C>T
n.432C>T
11g.17387818G>CCA379774911KCNJ11c.46C>G (p.Leu16Val)
c.13C>G (p.Leu5Val)
c.274C>G (p.Leu92Val)
c.291C>G
n.432C>G
11g.17387818G>TCA379774915KCNJ11c.46C>A (p.Leu16Ile)
c.13C>A (p.Leu5Ile)
c.274C>A (p.Leu92Ile)
c.291C>A
n.432C>A
11g.17387819C>ACA379774918KCNJ11c.45G>T (p.Trp15Cys)
c.12G>T (p.Trp4Cys)
c.273G>T (p.Trp91Cys)
c.290G>T
n.431G>T
11g.17387819C>GCA379774920KCNJ11c.45G>C (p.Trp15Cys)
c.12G>C (p.Trp4Cys)
c.273G>C (p.Trp91Cys)
c.290G>C
n.431G>C
11g.17387819C>TCA379774922KCNJ11c.45G>A (p.Trp15Ter)
c.12G>A (p.Trp4Ter)
c.273G>A (p.Trp91Ter)
c.290G>A
n.431G>A
 gnomAD v4
11g.17387820C>ACA379774926KCNJ11c.44G>T (p.Trp15Leu)
c.11G>T (p.Trp4Leu)
c.272G>T (p.Trp91Leu)
c.289G>T
n.430G>T
11g.17387820C>GCA379774928KCNJ11c.44G>C (p.Trp15Ser)
c.11G>C (p.Trp4Ser)
c.272G>C (p.Trp91Ser)
c.289G>C
n.430G>C
11g.17387820C>TCA379774930KCNJ11c.44G>A (p.Trp15Ter)
c.11G>A (p.Trp4Ter)
c.272G>A (p.Trp91Ter)
c.289G>A
n.430G>A
11g.17387821A>CCA379774934KCNJ11c.43T>G (p.Trp15Gly)
c.10T>G (p.Trp4Gly)
c.271T>G (p.Trp91Gly)
c.288T>G
n.429T>G
11g.17387821A>GCA379774937KCNJ11c.43T>C (p.Trp15Arg)
c.10T>C (p.Trp4Arg)
c.271T>C (p.Trp91Arg)
c.288T>C
n.429T>C
 ClinVar
11g.17387821A>TCA379774936KCNJ11c.43T>A (p.Trp15Arg)
c.10T>A (p.Trp4Arg)
c.271T>A (p.Trp91Arg)
c.288T>A
n.429T>A
11g.17387822C>ACA379774938KCNJ11c.42G>T (p.Trp14Cys)
c.9G>T (p.Trp3Cys)
c.270G>T (p.Trp90Cys)
c.287G>T
n.428G>T
11g.17387822C>GCA379774940KCNJ11c.42G>C (p.Trp14Cys)
c.9G>C (p.Trp3Cys)
c.270G>C (p.Trp90Cys)
c.287G>C
n.428G>C
11g.17387822C>TCA379774942KCNJ11c.42G>A (p.Trp14Ter)
c.9G>A (p.Trp3Ter)
c.270G>A (p.Trp90Ter)
c.287G>A
n.428G>A
 ClinVar gnomAD v4
11g.17387823C>ACA379774946KCNJ11c.41G>T (p.Trp14Leu)
c.8G>T (p.Trp3Leu)
c.269G>T (p.Trp90Leu)
c.286G>T
n.427G>T
11g.17387823C=CA1955119407KCNJ11c.41G= (p.Trp14=)
c.8G= (p.Trp3=)
c.269G= (p.Trp90=)
c.286G=
n.427G=
11g.17387823C>GCA379774949KCNJ11c.41G>C (p.Trp14Ser)
c.8G>C (p.Trp3Ser)
c.269G>C (p.Trp90Ser)
c.286G>C
n.427G>C
11g.17387823C>TCA379774952KCNJ11c.41G>A (p.Trp14Ter)
c.8G>A (p.Trp3Ter)
c.269G>A (p.Trp90Ter)
c.286G>A
n.427G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17387824A>CCA379774955KCNJ11c.40T>G (p.Trp14Gly)
c.7T>G (p.Trp3Gly)
c.268T>G (p.Trp90Gly)
c.285T>G
n.426T>G
11g.17387824A>GCA379774958KCNJ11c.40T>C (p.Trp14Arg)
c.7T>C (p.Trp3Arg)
c.268T>C (p.Trp90Arg)
c.285T>C
n.426T>C
 gnomAD v4
11g.17387824A>TCA379774960KCNJ11c.40T>A (p.Trp14Arg)
c.7T>A (p.Trp3Arg)
c.268T>A (p.Trp90Arg)
c.285T>A
n.426T>A
11g.17387825G>ACA473515800KCNJ11c.39C>T (p.Ala13=)
c.6C>T (p.Ala2=)
c.267C>T (p.Ala89=)
c.284C>T
n.425C>T
 gnomAD v4
11g.17387825G>CCA473515801KCNJ11c.39C>G (p.Ala13=)
c.6C>G (p.Ala2=)
c.267C>G (p.Ala89=)
c.284C>G
n.425C>G
11g.17387825G>TCA473515802KCNJ11c.39C>A (p.Ala13=)
c.6C>A (p.Ala2=)
c.267C>A (p.Ala89=)
c.284C>A
n.425C>A
11g.17387826G>ACA379774964KCNJ11c.38C>T (p.Ala13Val)
c.5C>T (p.Ala2Val)
c.266C>T (p.Ala89Val)
c.283C>T
n.424C>T
11g.17387826G>CCA379774967KCNJ11c.38C>G (p.Ala13Gly)
c.5C>G (p.Ala2Gly)
c.266C>G (p.Ala89Gly)
c.283C>G
n.424C>G
11g.17387826G>TCA379774970KCNJ11c.38C>A (p.Ala13Asp)
c.5C>A (p.Ala2Asp)
c.266C>A (p.Ala89Asp)
c.283C>A
n.424C>A
11g.17387827C>ACA379774978KCNJ11c.37G>T (p.Ala13Ser)
c.4G>T (p.Ala2Ser)
c.265G>T (p.Ala89Ser)
c.282G>T
n.423G>T
11g.17387827C>GCA379774973KCNJ11c.37G>C (p.Ala13Pro)
c.4G>C (p.Ala2Pro)
c.265G>C (p.Ala89Pro)
c.282G>C
n.423G>C
11g.17387827C>TCA379774976KCNJ11c.37G>A (p.Ala13Thr)
c.4G>A (p.Ala2Thr)
c.265G>A (p.Ala89Thr)
c.282G>A
n.423G>A
11g.17387828C>ACA379774980KCNJ11c.36G>T (p.Met12Ile)
c.3G>T (p.Met1Ile)
c.264G>T (p.Met88Ile)
c.281G>T
n.422G>T
 ClinVar dbSNP gnomAD v4
11g.17387828C=CA1955119408KCNJ11c.36G= (p.Met12=)
c.3G= (p.Met1=)
c.264G= (p.Met88=)
c.281G=
n.422G=
11g.17387828C>GCA379774982KCNJ11c.36G>C (p.Met12Ile)
c.3G>C (p.Met1Ile)
c.264G>C (p.Met88Ile)
c.281G>C
n.422G>C
11g.17387828C>TCA379774985KCNJ11c.36G>A (p.Met12Ile)
c.3G>A (p.Met1Ile)
c.264G>A (p.Met88Ile)
c.281G>A
n.422G>A
11g.17387829A>CCA379774989KCNJ11c.35T>G (p.Met12Arg)
c.2T>G (p.Met1Arg)
c.263T>G (p.Met88Arg)
c.280T>G
n.421T>G
11g.17387829A>GCA379774991KCNJ11c.35T>C (p.Met12Thr)
c.2T>C (p.Met1Thr)
c.263T>C (p.Met88Thr)
c.280T>C
n.421T>C
11g.17387829A>TCA379774993KCNJ11c.35T>A (p.Met12Lys)
c.2T>A (p.Met1Lys)
c.263T>A (p.Met88Lys)
c.280T>A
n.421T>A
11g.17387830T>ACA5902317KCNJ11c.34A>T (p.Met12Leu)
c.1A>T (p.Met1Leu)
c.262A>T (p.Met88Leu)
c.279A>T
n.420A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387830T>CCA379775003KCNJ11c.34A>G (p.Met12Val)
c.1A>G (p.Met1Val)
c.262A>G (p.Met88Val)
c.279A>G
n.420A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387830T>GCA379775008KCNJ11c.34A>C (p.Met12Leu)
c.1A>C (p.Met1Leu)
c.262A>C (p.Met88Leu)
c.279A>C
n.420A>C
11g.17387830T=CA1955119409KCNJ11c.34A= (p.Met12=)
c.1A= (p.Met1=)
c.262A= (p.Met88=)
c.279A=
n.420A=
11g.17387831G>ACA473515803KCNJ11c.33C>T (p.Ala11=)
c.-1C>T (n.-1C>T)
c.261C>T (p.Ala87=)
c.278C>T
n.419C>T
11g.17387831G>CCA473515804KCNJ11c.33C>G (p.Ala11=)
c.-1C>G (n.-1C>G)
c.261C>G (p.Ala87=)
c.278C>G
n.419C>G
11g.17387831G>TCA473515805KCNJ11c.33C>A (p.Ala11=)
c.-1C>A (n.-1C>A)
c.261C>A (p.Ala87=)
c.278C>A
n.419C>A
11g.17387832G>ACA379775012KCNJ11c.32C>T (p.Ala11Val)
c.-2C>T (n.-2C>T)
c.260C>T (p.Ala87Val)
c.277C>T
n.418C>T
 gnomAD v4
11g.17387832G>CCA379775015KCNJ11c.32C>G (p.Ala11Gly)
c.-2C>G (n.-2C>G)
c.260C>G (p.Ala87Gly)
c.277C>G
n.418C>G
11g.17387832G>TCA379775018KCNJ11c.32C>A (p.Ala11Asp)
c.-2C>A (n.-2C>A)
c.260C>A (p.Ala87Asp)
c.277C>A
n.418C>A
11g.17387833C>ACA379775025KCNJ11c.31G>T (p.Ala11Ser)
c.-3G>T (n.-3G>T)
c.259G>T (p.Ala87Ser)
c.276G>T
n.417G>T
11g.17387833C=CA1955119410KCNJ11c.31G= (p.Ala11=)
c.-3G= (n.-3G=)
c.259G= (p.Ala87=)
c.276G=
n.417G=
11g.17387833C>GCA379775027KCNJ11c.31G>C (p.Ala11Pro)
c.-3G>C (n.-3G>C)
c.259G>C (p.Ala87Pro)
c.276G>C
n.417G>C
 dbSNP
11g.17387833C>TCA5902318KCNJ11c.31G>A (p.Ala11Thr)
c.-3G>A (n.-3G>A)
c.259G>A (p.Ala87Thr)
c.276G>A
n.417G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387834G>ACA5902319KCNJ11c.30C>T (p.Phe10=)
c.-4C>T (n.-4C>T)
c.258C>T (p.Phe86=)
c.275C>T
n.416C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387834G>CCA379775032KCNJ11c.30C>G (p.Phe10Leu)
c.-4C>G (n.-4C>G)
c.258C>G (p.Phe86Leu)
c.275C>G
n.416C>G
11g.17387834G=CA1955119411KCNJ11c.30C= (p.Phe10=)
c.-4C= (n.-4C=)
c.258C= (p.Phe86=)
c.275C=
n.416C=
11g.17387834G>TCA379775035KCNJ11c.30C>A (p.Phe10Leu)
c.-4C>A (n.-4C>A)
c.258C>A (p.Phe86Leu)
c.275C>A
n.416C>A
11g.17387835A>CCA379775040KCNJ11c.29T>G (p.Phe10Cys)
c.-5T>G (n.-5T>G)
c.257T>G (p.Phe86Cys)
c.274T>G
n.415T>G
11g.17387835A>GCA379775043KCNJ11c.29T>C (p.Phe10Ser)
c.-5T>C (n.-5T>C)
c.257T>C (p.Phe86Ser)
c.274T>C
n.415T>C
11g.17387835A>TCA379775047KCNJ11c.29T>A (p.Phe10Tyr)
c.-5T>A (n.-5T>A)
c.257T>A (p.Phe86Tyr)
c.274T>A
n.415T>A
11g.17387836A=CA1955119412KCNJ11c.28T= (p.Phe10=)
c.-6T= (n.-6T=)
c.256T= (p.Phe86=)
c.273T=
n.414T=
11g.17387836A>CCA379775060KCNJ11c.28T>G (p.Phe10Val)
c.-6T>G (n.-6T>G)
c.256T>G (p.Phe86Val)
c.273T>G
n.414T>G
11g.17387836A>GCA379775058KCNJ11c.28T>C (p.Phe10Leu)
c.-6T>C (n.-6T>C)
c.256T>C (p.Phe86Leu)
c.273T>C
n.414T>C
 dbSNP gnomAD v4
11g.17387836A>TCA379775050KCNJ11c.28T>A (p.Phe10Ile)
c.-6T>A (n.-6T>A)
c.256T>A (p.Phe86Ile)
c.273T>A
n.414T>A
11g.17387837G>ACA473515806KCNJ11c.27C>T (p.Leu9=)
c.-7C>T (n.-7C>T)
c.255C>T (p.Leu85=)
c.272C>T
n.413C>T
11g.17387837G>CCA473515808KCNJ11c.27C>G (p.Leu9=)
c.-7C>G (n.-7C>G)
c.255C>G (p.Leu85=)
c.272C>G
n.413C>G
11g.17387837G>TCA473515807KCNJ11c.27C>A (p.Leu9=)
c.-7C>A (n.-7C>A)
c.255C>A (p.Leu85=)
c.272C>A
n.413C>A
11g.17387838A=CA1955119413KCNJ11c.26T= (p.Leu9=)
c.-8T= (n.-8T=)
c.254T= (p.Leu85=)
c.271T=
n.412T=
11g.17387838A>CCA379775061KCNJ11c.26T>G (p.Leu9Arg)
c.-8T>G (n.-8T>G)
c.254T>G (p.Leu85Arg)
c.271T>G
n.412T>G
11g.17387838A>GCA379775064KCNJ11c.26T>C (p.Leu9Pro)
c.-8T>C (n.-8T>C)
c.254T>C (p.Leu85Pro)
c.271T>C
n.412T>C
11g.17387838A>TCA379775066KCNJ11c.26T>A (p.Leu9His)
c.-8T>A (n.-8T>A)
c.254T>A (p.Leu85His)
c.271T>A
n.412T>A
 dbSNP gnomAD v2 gnomAD v4
11g.17387839G>ACA379775067KCNJ11c.25C>T (p.Leu9Phe)
c.-9C>T (n.-9C>T)
c.253C>T (p.Leu85Phe)
c.270C>T
n.411C>T
11g.17387839G>CCA379775069KCNJ11c.25C>G (p.Leu9Val)
c.-9C>G (n.-9C>G)
c.253C>G (p.Leu85Val)
c.270C>G
n.411C>G
11g.17387839G>TCA379775072KCNJ11c.25C>A (p.Leu9Ile)
c.-9C>A (n.-9C>A)
c.253C>A (p.Leu85Ile)
c.270C>A
n.411C>A
11g.17387840C>ACA473515809KCNJ11c.24G>T (p.Leu8=)
c.-10G>T (n.-10G>T)
c.252G>T (p.Leu84=)
c.269G>T
n.410G>T
11g.17387840C>GCA473515810KCNJ11c.24G>C (p.Leu8=)
c.-10G>C (n.-10G>C)
c.252G>C (p.Leu84=)
c.269G>C
n.410G>C
11g.17387840C>TCA473515811KCNJ11c.24G>A (p.Leu8=)
c.-10G>A (n.-10G>A)
c.252G>A (p.Leu84=)
c.269G>A
n.410G>A
 ClinVar dbSNP
11g.17387841A>CCA379775077KCNJ11c.23T>G (p.Leu8Arg)
c.-11T>G (n.-11T>G)
c.251T>G (p.Leu84Arg)
c.268T>G
n.409T>G
11g.17387841A>GCA379775082KCNJ11c.23T>C (p.Leu8Pro)
c.-11T>C (n.-11T>C)
c.251T>C (p.Leu84Pro)
c.268T>C
n.409T>C
11g.17387841A>TCA379775079KCNJ11c.23T>A (p.Leu8Gln)
c.-11T>A (n.-11T>A)
c.251T>A (p.Leu84Gln)
c.268T>A
n.409T>A
11g.17387842G>ACA5902320KCNJ11c.22C>T (p.Leu8=)
c.-12C>T (n.-12C>T)
c.250C>T (p.Leu84=)
c.267C>T
n.408C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387842G>CCA379775088KCNJ11c.22C>G (p.Leu8Val)
c.-12C>G (n.-12C>G)
c.250C>G (p.Leu84Val)
c.267C>G
n.408C>G
11g.17387842G=CA1955119414KCNJ11c.22C= (p.Leu8=)
c.-12C= (n.-12C=)
c.250C= (p.Leu84=)
c.267C=
n.408C=
11g.17387842G>TCA379775093KCNJ11c.22C>A (p.Leu8Met)
c.-12C>A (n.-12C>A)
c.250C>A (p.Leu84Met)
c.267C>A
n.408C>A
11g.17387843C>ACA379775096KCNJ11c.21G>T (p.Trp7Cys)
c.-13G>T (n.-13G>T)
c.249G>T (p.Trp83Cys)
c.266G>T
n.407G>T
11g.17387843C>GCA379775099KCNJ11c.21G>C (p.Trp7Cys)
c.-13G>C (n.-13G>C)
c.249G>C (p.Trp83Cys)
c.266G>C
n.407G>C
11g.17387843C>TCA379775101KCNJ11c.21G>A (p.Trp7Ter)
c.-13G>A (n.-13G>A)
c.249G>A (p.Trp83Ter)
c.266G>A
n.407G>A
11g.17387844C>ACA379775104KCNJ11c.20G>T (p.Trp7Leu)
c.-14G>T (n.-14G>T)
c.248G>T (p.Trp83Leu)
c.265G>T
n.406G>T
11g.17387844C>GCA379775108KCNJ11c.20G>C (p.Trp7Ser)
c.-14G>C (n.-14G>C)
c.248G>C (p.Trp83Ser)
c.265G>C
n.406G>C
 ClinVar dbSNP gnomAD v4
11g.17387844C>TCA379775116KCNJ11c.20G>A (p.Trp7Ter)
c.-14G>A (n.-14G>A)
c.248G>A (p.Trp83Ter)
c.265G>A
n.406G>A
11g.17387845A>CCA379775120KCNJ11c.19T>G (p.Trp7Gly)
c.-15T>G (n.-15T>G)
c.247T>G (p.Trp83Gly)
c.264T>G
n.405T>G
11g.17387845A>GCA379775127KCNJ11c.19T>C (p.Trp7Arg)
c.-15T>C (n.-15T>C)
c.247T>C (p.Trp83Arg)
c.264T>C
n.405T>C
11g.17387845A>TCA379775130KCNJ11c.19T>A (p.Trp7Arg)
c.-15T>A (n.-15T>A)
c.247T>A (p.Trp83Arg)
c.264T>A
n.405T>A
11g.17387845_17387848dupCA2695213252KCNJ11c.16_19dup (p.Trp7Ter)
c.-16-2_-15dup
c.244_247dup (p.Trp83Ter)
c.261_264dup
n.402_405dup
11g.17387846G>ACA473515815KCNJ11c.18C>T (p.Ser6=)
c.-16C>T (n.-16C>T)
c.246C>T (p.Ser82=)
c.263C>T
n.404C>T
11g.17387846G>CCA379775142KCNJ11c.18C>G (p.Ser6Arg)
c.-16C>G (n.-16C>G)
c.246C>G (p.Ser82Arg)
c.263C>G
n.404C>G
 gnomAD v4
11g.17387846G>TCA379775135KCNJ11c.18C>A (p.Ser6Arg)
c.-16C>A (n.-16C>A)
c.246C>A (p.Ser82Arg)
c.263C>A
n.404C>A
11g.17387847C>ACA379775146KCNJ11c.17G>T (p.Ser6Ile)
c.-16-1G>T (n.-16-1G>T)
c.245G>T (p.Ser82Ile)
c.262G>T
n.403G>T
11g.17387847C=CA1955119415KCNJ11c.17G= (p.Ser6=)
c.-16-1G= (n.-16-1G=)
c.245G= (p.Ser82=)
c.262G=
n.403G=
11g.17387847C>GCA379775147KCNJ11c.17G>C (p.Ser6Thr)
c.-16-1G>C (n.-16-1G>C)
c.245G>C (p.Ser82Thr)
c.262G>C
n.403G>C
11g.17387847C>TCA379775148KCNJ11c.17G>A (p.Ser6Asn)
c.-16-1G>A (n.-16-1G>A)
c.245G>A (p.Ser82Asn)
c.262G>A
n.403G>A
 ClinVar dbSNP
11g.17387848T>ACA379775150KCNJ11c.16A>T (p.Ser6Cys)
c.-16-2A>T (n.-16-2A>T)
c.244A>T (p.Ser82Cys)
c.261A>T
n.402A>T
11g.17387848T>CCA379775152KCNJ11c.16A>G (p.Ser6Gly)
c.-16-2A>G (n.-16-2A>G)
c.244A>G (p.Ser82Gly)
c.261A>G
n.402A>G
11g.17387848T>GCA379775155KCNJ11c.16A>C (p.Ser6Arg)
c.-16-2A>C (n.-16-2A>C)
c.244A>C (p.Ser82Arg)
c.261A>C
n.402A>C
11g.17387849G>ACA473515819KCNJ11c.15C>T (p.Cys5=)
c.-16-3C>T (n.-16-3C>T)
c.243C>T (p.Cys81=)
c.260C>T
n.401C>T
 COSMIC
11g.17387849G>CCA379775162KCNJ11c.15C>G (p.Cys5Trp)
c.-16-3C>G (n.-16-3C>G)
c.243C>G (p.Cys81Trp)
c.260C>G
n.401C>G
11g.17387849G>TCA379775160KCNJ11c.15C>A (p.Cys5Ter)
c.-16-3C>A (n.-16-3C>A)
c.243C>A (p.Cys81Ter)
c.260C>A
n.401C>A
11g.17387850C>ACA379775165KCNJ11c.14G>T (p.Cys5Phe)
c.-16-4G>T (n.-16-4G>T)
c.242G>T (p.Cys81Phe)
c.259G>T
n.400G>T
11g.17387850C>GCA379775168KCNJ11c.14G>C (p.Cys5Ser)
c.-16-4G>C (n.-16-4G>C)
c.242G>C (p.Cys81Ser)
c.259G>C
n.400G>C
11g.17387850C>TCA379775170KCNJ11c.14G>A (p.Cys5Tyr)
c.-16-4G>A (n.-16-4G>A)
c.242G>A (p.Cys81Tyr)
c.259G>A
n.400G>A
11g.17387851A>CCA379775176KCNJ11c.13T>G (p.Cys5Gly)
c.-16-5T>G (n.-16-5T>G)
c.241T>G (p.Cys81Gly)
c.258T>G
n.399T>G
 gnomAD v4
11g.17387851A>GCA379775177KCNJ11c.13T>C (p.Cys5Arg)
c.-16-5T>C (n.-16-5T>C)
c.241T>C (p.Cys81Arg)
c.258T>C
n.399T>C
11g.17387851A>TCA379775178KCNJ11c.13T>A (p.Cys5Ser)
c.-16-5T>A (n.-16-5T>A)
c.241T>A (p.Cys81Ser)
c.258T>A
n.399T>A
11g.17387852delCA2695213253KCNJ11c.12del (p.Cys5AlafsTer?)
c.-16-6del (n.-16-6del)
c.240del (p.Cys81AlafsTer?)
c.257del
n.398del
11g.17387852C>ACA473515823KCNJ11c.12G>T (p.Leu4=)
c.-16-6G>T (n.-16-6G>T)
c.240G>T (p.Leu80=)
c.257G>T
n.398G>T
11g.17387852C>GCA473515824KCNJ11c.12G>C (p.Leu4=)
c.-16-6G>C (n.-16-6G>C)
c.240G>C (p.Leu80=)
c.257G>C
n.398G>C
11g.17387852C>TCA473515825KCNJ11c.12G>A (p.Leu4=)
c.-16-6G>A (n.-16-6G>A)
c.240G>A (p.Leu80=)
c.257G>A
n.398G>A
11g.17387853A=CA1955119417KCNJ11c.11T= (p.Leu4=)
c.-16-7T= (n.-16-7T=)
c.239T= (p.Leu80=)
c.256T=
n.397T=
11g.17387853A>CCA379775185KCNJ11c.11T>G (p.Leu4Arg)
c.-16-7T>G (n.-16-7T>G)
c.239T>G (p.Leu80Arg)
c.256T>G
n.397T>G
11g.17387853A>GCA5902321KCNJ11c.11T>C (p.Leu4Pro)
c.-16-7T>C (n.-16-7T>C)
c.239T>C (p.Leu80Pro)
c.256T>C
n.397T>C
 dbSNP ExAC gnomAD v2
11g.17387853A>TCA379775184KCNJ11c.11T>A (p.Leu4Gln)
c.-16-7T>A (n.-16-7T>A)
c.239T>A (p.Leu80Gln)
c.256T>A
n.397T>A
11g.17387853_17387854delinsAGCA1955119416KCNJ11c.10_11delinsCT (p.Leu4=)
c.-16-8_-16-7delinsCT (n.-16-8_-16-7delinsCT)
c.238_239delinsCT (p.Leu80=)
c.255_256delinsCT
n.396_397delinsCT
11g.17387854G>ACA473515828KCNJ11c.10C>T (p.Leu4=)
c.-16-8C>T (n.-16-8C>T)
c.238C>T (p.Leu80=)
c.255C>T
n.396C>T
 ClinVar dbSNP
11g.17387854G>CCA379775186KCNJ11c.10C>G (p.Leu4Val)
c.-16-8C>G (n.-16-8C>G)
c.238C>G (p.Leu80Val)
c.255C>G
n.396C>G
11g.17387854G>TCA379775188KCNJ11c.10C>A (p.Leu4Met)
c.-16-8C>A (n.-16-8C>A)
c.238C>A (p.Leu80Met)
c.255C>A
n.396C>A
11g.17387855delCA1139661843KCNJ11c.10del (p.Leu4CysfsTer?)
c.-16-8del (n.-16-8del)
c.238del (p.Leu80CysfsTer?)
c.255del
n.396del
 ClinVar dbSNP
11g.17387855G>ACA473515829KCNJ11c.9C>T (p.Phe3=)
c.-16-9C>T (n.-16-9C>T)
c.237C>T (p.Phe79=)
c.254C>T
n.395C>T
11g.17387855G>CCA379775193KCNJ11c.9C>G (p.Phe3Leu)
c.-16-9C>G (n.-16-9C>G)
c.237C>G (p.Phe79Leu)
c.254C>G
n.395C>G
11g.17387855G>TCA379775200KCNJ11c.9C>A (p.Phe3Leu)
c.-16-9C>A (n.-16-9C>A)
c.237C>A (p.Phe79Leu)
c.254C>A
n.395C>A
11g.17387856A>CCA379775206KCNJ11c.8T>G (p.Phe3Cys)
c.-16-10T>G (n.-16-10T>G)
c.236T>G (p.Phe79Cys)
c.253T>G
n.394T>G
11g.17387856A>GCA379775210KCNJ11c.8T>C (p.Phe3Ser)
c.-16-10T>C (n.-16-10T>C)
c.236T>C (p.Phe79Ser)
c.253T>C
n.394T>C
11g.17387856A>TCA379775216KCNJ11c.8T>A (p.Phe3Tyr)
c.-16-10T>A (n.-16-10T>A)
c.236T>A (p.Phe79Tyr)
c.253T>A
n.394T>A
11g.17387857A>CCA379775242KCNJ11c.7T>G (p.Phe3Val)
c.-16-11T>G (n.-16-11T>G)
c.235T>G (p.Phe79Val)
c.252T>G
n.393T>G
11g.17387857A>GCA379775246KCNJ11c.7T>C (p.Phe3Leu)
c.-16-11T>C (n.-16-11T>C)
c.235T>C (p.Phe79Leu)
c.252T>C
n.393T>C
11g.17387857A>TCA379775253KCNJ11c.7T>A (p.Phe3Ile)
c.-16-11T>A (n.-16-11T>A)
c.235T>A (p.Phe79Ile)
c.252T>A
n.393T>A
11g.17387858G>ACA473515830KCNJ11c.6C>T (p.Ser2=)
c.-16-12C>T (n.-16-12C>T)
c.234C>T (p.Ser78=)
c.251C>T
n.392C>T
11g.17387858G>CCA473515832KCNJ11c.6C>G (p.Ser2=)
c.-16-12C>G (n.-16-12C>G)
c.234C>G (p.Ser78=)
c.251C>G
n.392C>G
 gnomAD v4
11g.17387858G>TCA473515833KCNJ11c.6C>A (p.Ser2=)
c.-16-12C>A (n.-16-12C>A)
c.234C>A (p.Ser78=)
c.251C>A
n.392C>A
11g.17387859G>ACA379775259KCNJ11c.5C>T (p.Ser2Phe)
c.-16-13C>T (n.-16-13C>T)
c.233C>T (p.Ser78Phe)
c.250C>T
n.391C>T
11g.17387859G>CCA379775262KCNJ11c.5C>G (p.Ser2Cys)
c.-16-13C>G (n.-16-13C>G)
c.233C>G (p.Ser78Cys)
c.250C>G
n.391C>G
11g.17387859G>TCA379775266KCNJ11c.5C>A (p.Ser2Tyr)
c.-16-13C>A (n.-16-13C>A)
c.233C>A (p.Ser78Tyr)
c.250C>A
n.391C>A
11g.17387860A>CCA379775277KCNJ11c.4T>G (p.Ser2Ala)
c.-16-14T>G (n.-16-14T>G)
c.232T>G (p.Ser78Ala)
c.249T>G
n.390T>G
 gnomAD v4
11g.17387860A>GCA379775291KCNJ11c.4T>C (p.Ser2Pro)
c.-16-14T>C (n.-16-14T>C)
c.232T>C (p.Ser78Pro)
c.249T>C
n.390T>C
11g.17387860A>TCA379775284KCNJ11c.4T>A (p.Ser2Thr)
c.-16-14T>A (n.-16-14T>A)
c.232T>A (p.Ser78Thr)
c.249T>A
n.390T>A
11g.17387861C>ACA379775292KCNJ11c.3G>T (p.Met1Ile)
c.-16-15G>T (n.-16-15G>T)
c.231G>T (p.Met77Ile)
c.248G>T
n.389G>T
11g.17387861C>GCA379775296KCNJ11c.3G>C (p.Met1Ile)
c.-16-15G>C (n.-16-15G>C)
c.231G>C (p.Met77Ile)
c.248G>C
n.389G>C
11g.17387861C>TCA379775293KCNJ11c.3G>A (p.Met1Ile)
c.-16-15G>A (n.-16-15G>A)
c.231G>A (p.Met77Ile)
c.248G>A
n.389G>A
11g.17387862A>CCA379775299KCNJ11c.2T>G (p.Met1Arg)
c.-16-16T>G (n.-16-16T>G)
c.230T>G (p.Met77Arg)
c.247T>G
n.388T>G
11g.17387862A>GCA379775300KCNJ11c.2T>C (p.Met1Thr)
c.-16-16T>C (n.-16-16T>C)
c.230T>C (p.Met77Thr)
c.247T>C
n.388T>C
 gnomAD v4
11g.17387862A>TCA379775301KCNJ11c.2T>A (p.Met1Lys)
c.-16-16T>A (n.-16-16T>A)
c.230T>A (p.Met77Lys)
c.247T>A
n.388T>A
11g.17387863T>ACA379775304KCNJ11c.1A>T (p.Met1Leu)
c.-16-17A>T (n.-16-17A>T)
c.229A>T (p.Met77Leu)
c.246A>T
n.387A>T
 gnomAD v4
11g.17387863T>CCA379775307KCNJ11c.1A>G (p.Met1Val)
c.-16-17A>G (n.-16-17A>G)
c.229A>G (p.Met77Val)
c.246A>G
n.387A>G
 ClinVar
11g.17387863T>GCA379775309KCNJ11c.1A>C (p.Met1Leu)
c.-16-17A>C (n.-16-17A>C)
c.229A>C (p.Met77Leu)
c.246A>C
n.387A>C
11g.17387864G>ACA473515841KCNJ11c.-1C>T (n.-1C>T)
c.-16-18C>T (n.-16-18C>T)
c.228C>T (p.Thr76=)
c.245C>T
n.386C>T
11g.17387864G>CCA473515839KCNJ11c.-1C>G (n.-1C>G)
c.-16-18C>G (n.-16-18C>G)
c.228C>G (p.Thr76=)
c.245C>G
n.386C>G
11g.17387864G>TCA473515840KCNJ11c.-1C>A (n.-1C>A)
c.-16-18C>A (n.-16-18C>A)
c.228C>A (p.Thr76=)
c.245C>A
n.386C>A
11g.17387865delCA2695213254KCNJ11c.-1del (n.-1del)
c.-16-18del (n.-16-18del)
c.228del (p.Met77CysfsTer?)
c.245del
n.386del
11g.17387865G>ACA379775310KCNJ11c.-2C>T (n.-2C>T)
c.-16-19C>T (n.-16-19C>T)
c.227C>T (p.Thr76Ile)
c.244C>T
n.385C>T
11g.17387865G>CCA379775315KCNJ11c.-2C>G (n.-2C>G)
c.-16-19C>G (n.-16-19C>G)
c.227C>G (p.Thr76Ser)
c.244C>G
n.385C>G
11g.17387865G>TCA379775321KCNJ11c.-2C>A (n.-2C>A)
c.-16-19C>A (n.-16-19C>A)
c.227C>A (p.Thr76Asn)
c.244C>A
n.385C>A
11g.17387866T>ACA379775326KCNJ11c.-3A>T (n.-3A>T)
c.-16-20A>T (n.-16-20A>T)
c.226A>T (p.Thr76Ser)
c.243A>T
n.384A>T
11g.17387866T>CCA379775328KCNJ11c.-3A>G (n.-3A>G)
c.-16-20A>G (n.-16-20A>G)
c.226A>G (p.Thr76Ala)
c.243A>G
n.384A>G
 ClinVar dbSNP
11g.17387866T>GCA379775333KCNJ11c.-3A>C (n.-3A>C)
c.-16-20A>C (n.-16-20A>C)
c.226A>C (p.Thr76Pro)
c.243A>C
n.384A>C
 dbSNP COSMIC
11g.17387866T=CA1955119418KCNJ11c.-3A= (n.-3A=)
c.-16-20A= (n.-16-20A=)
c.226A= (p.Thr76=)
c.243A=
n.384A=
11g.17387867G>ACA473515843KCNJ11c.-4C>T (n.-4C>T)
c.-16-21C>T (n.-16-21C>T)
c.225C>T (p.Phe75=)
c.242C>T
n.383C>T
11g.17387867G>CCA379775337KCNJ11c.-4C>G (n.-4C>G)
c.-16-21C>G (n.-16-21C>G)
c.225C>G (p.Phe75Leu)
c.242C>G
n.383C>G
11g.17387867G>TCA379775341KCNJ11c.-4C>A (n.-4C>A)
c.-16-21C>A (n.-16-21C>A)
c.225C>A (p.Phe75Leu)
c.242C>A
n.383C>A
11g.17387868A>CCA379775346KCNJ11c.-5T>G (n.-5T>G)
c.-16-22T>G (n.-16-22T>G)
c.224T>G (p.Phe75Cys)
c.241T>G
n.382T>G
11g.17387868A>GCA379775355KCNJ11c.-5T>C (n.-5T>C)
c.-16-22T>C (n.-16-22T>C)
c.224T>C (p.Phe75Ser)
c.241T>C
n.382T>C
11g.17387868A>TCA379775358KCNJ11c.-5T>A (n.-5T>A)
c.-16-22T>A (n.-16-22T>A)
c.224T>A (p.Phe75Tyr)
c.241T>A
n.382T>A
11g.17387869A>CCA379775364KCNJ11c.-6T>G (n.-6T>G)
c.-16-23T>G (n.-16-23T>G)
c.223T>G (p.Phe75Val)
c.240T>G
n.381T>G
11g.17387869A>GCA379775366KCNJ11c.-6T>C (n.-6T>C)
c.-16-23T>C (n.-16-23T>C)
c.223T>C (p.Phe75Leu)
c.240T>C
n.381T>C
11g.17387869A>TCA379775367KCNJ11c.-6T>A (n.-6T>A)
c.-16-23T>A (n.-16-23T>A)
c.223T>A (p.Phe75Ile)
c.240T>A
n.381T>A
11g.17387870G>ACA473515845KCNJ11c.-7C>T (n.-7C>T)
c.-16-24C>T (n.-16-24C>T)
c.222C>T (p.Ile74=)
c.239C>T
n.380C>T
11g.17387870G>CCA379775368KCNJ11c.-7C>G (n.-7C>G)
c.-16-24C>G (n.-16-24C>G)
c.222C>G (p.Ile74Met)
c.239C>G
n.380C>G
11g.17387870G=CA1955119419KCNJ11c.-7C= (n.-7C=)
c.-16-24C= (n.-16-24C=)
c.222C= (p.Ile74=)
c.239C=
n.380C=
11g.17387870G>TCA218400077KCNJ11c.-7C>A (n.-7C>A)
c.-16-24C>A (n.-16-24C>A)
c.222C>A (p.Ile74=)
c.239C>A
n.380C>A
 ClinVar dbSNP gnomAD v4
11g.17387871A=CA1955119420KCNJ11c.-8T= (n.-8T=)
c.-16-25T= (n.-16-25T=)
c.221T= (p.Ile74=)
c.238T=
n.379T=
11g.17387871A>CCA379775374KCNJ11c.-8T>G (n.-8T>G)
c.-16-25T>G (n.-16-25T>G)
c.221T>G (p.Ile74Ser)
c.238T>G
n.379T>G
11g.17387871A>GCA5902322KCNJ11c.-8T>C (n.-8T>C)
c.-16-25T>C (n.-16-25T>C)
c.221T>C (p.Ile74Thr)
c.238T>C
n.379T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387871A>TCA379775376KCNJ11c.-8T>A (n.-8T>A)
c.-16-25T>A (n.-16-25T>A)
c.221T>A (p.Ile74Asn)
c.238T>A
n.379T>A
11g.17387872T>ACA379775383KCNJ11c.-9A>T (n.-9A>T)
c.-16-26A>T (n.-16-26A>T)
c.220A>T (p.Ile74Phe)
c.237A>T
n.378A>T
11g.17387872T>CCA379775391KCNJ11c.-9A>G (n.-9A>G)
c.-16-26A>G (n.-16-26A>G)
c.220A>G (p.Ile74Val)
c.237A>G
n.378A>G
 dbSNP gnomAD v4
11g.17387872T>GCA379775397KCNJ11c.-9A>C (n.-9A>C)
c.-16-26A>C (n.-16-26A>C)
c.220A>C (p.Ile74Leu)
c.237A>C
n.378A>C
11g.17387872T=CA1955119421KCNJ11c.-9A= (n.-9A=)
c.-16-26A= (n.-16-26A=)
c.220A= (p.Ile74=)
c.237A=
n.378A=
11g.17387873G>ACA473515850KCNJ11c.-10C>T (n.-10C>T)
c.-16-27C>T (n.-16-27C>T)
c.219C>T (p.Leu73=)
c.236C>T
n.377C>T
 ClinVar dbSNP gnomAD v4
11g.17387873G>CCA473515851KCNJ11c.-10C>G (n.-10C>G)
c.-16-27C>G (n.-16-27C>G)
c.219C>G (p.Leu73=)
c.236C>G
n.377C>G
11g.17387873G=CA1955119422KCNJ11c.-10C= (n.-10C=)
c.-16-27C= (n.-16-27C=)
c.219C= (p.Leu73=)
c.236C=
n.377C=
11g.17387873G>TCA473515852KCNJ11c.-10C>A (n.-10C>A)
c.-16-27C>A (n.-16-27C>A)
c.219C>A (p.Leu73=)
c.236C>A
n.377C>A
11g.17387874A>CCA379775398KCNJ11c.-11T>G (n.-11T>G)
c.-16-28T>G (n.-16-28T>G)
c.218T>G (p.Leu73Arg)
c.235T>G
n.376T>G
11g.17387874A>GCA379775401KCNJ11c.-11T>C (n.-11T>C)
c.-16-28T>C (n.-16-28T>C)
c.218T>C (p.Leu73Pro)
c.235T>C
n.376T>C
11g.17387874A>TCA379775399KCNJ11c.-11T>A (n.-11T>A)
c.-16-28T>A (n.-16-28T>A)
c.218T>A (p.Leu73His)
c.235T>A
n.376T>A
11g.17387875G>ACA379775403KCNJ11c.-12C>T (n.-12C>T)
c.-16-29C>T (n.-16-29C>T)
c.217C>T (p.Leu73Phe)
c.234C>T
n.375C>T
 dbSNP gnomAD v2 gnomAD v4
11g.17387875G>CCA379775405KCNJ11c.-12C>G (n.-12C>G)
c.-16-29C>G (n.-16-29C>G)
c.217C>G (p.Leu73Val)
c.234C>G
n.375C>G
11g.17387875G=CA1955119423KCNJ11c.-12C= (n.-12C=)
c.-16-29C= (n.-16-29C=)
c.217C= (p.Leu73=)
c.234C=
n.375C=
11g.17387875G>TCA379775407KCNJ11c.-12C>A (n.-12C>A)
c.-16-29C>A (n.-16-29C>A)
c.217C>A (p.Leu73Ile)
c.234C>A
n.375C>A
11g.17387876C>ACA379775411KCNJ11c.-13G>T (n.-13G>T)
c.-16-30G>T (n.-16-30G>T)
c.216G>T (p.Leu72Phe)
c.233G>T
n.374G>T
11g.17387876C=CA1955119424KCNJ11c.-13G= (n.-13G=)
c.-16-30G= (n.-16-30G=)
c.216G= (p.Leu72=)
c.233G=
n.374G=
11g.17387876C>GCA379775412KCNJ11c.-13G>C (n.-13G>C)
c.-16-30G>C (n.-16-30G>C)
c.216G>C (p.Leu72Phe)
c.233G>C
n.374G>C
11g.17387876C>TCA473515857KCNJ11c.-13G>A (n.-13G>A)
c.-16-30G>A (n.-16-30G>A)
c.216G>A (p.Leu72=)
c.233G>A
n.374G>A
 dbSNP gnomAD v3 gnomAD v4
11g.17387877A>CCA379775414KCNJ11c.-14T>G (n.-14T>G)
c.-16-31T>G (n.-16-31T>G)
c.215T>G (p.Leu72Trp)
c.232T>G
n.373T>G
11g.17387877A>GCA379775416KCNJ11c.-14T>C (n.-14T>C)
c.-16-31T>C (n.-16-31T>C)
c.215T>C (p.Leu72Ser)
c.232T>C
n.373T>C
 gnomAD v4
11g.17387877A>TCA379775419KCNJ11c.-14T>A (n.-14T>A)
c.-16-31T>A (n.-16-31T>A)
c.215T>A (p.Leu72Ter)
c.232T>A
n.373T>A

Number of alleles fetched