Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150959587_150959649delinsTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACA1752419809KCNH2n.1228_1290delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA
c.395_457delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA (p.Val132=)
c.218_234+46delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA
n.618_680delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA
c.95_157delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA (p.Val32=)
c.245_307delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA (p.Val82=)
c.218_280delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA (p.Val73=)
7g.150959588_150959649delCA16618415KCNH2n.1228_1289del
c.395_456del (p.Val132GlufsTer?)
c.218_234+45del
n.618_679del
c.95_156del (p.Val32GlufsTer?)
c.245_306del (p.Val82GlufsTer?)
c.218_279del (p.Val73GlufsTer?)
 ClinVar dbSNP
7g.150959636_150959663delCA2695208663KCNH2n.1214_1241del
c.381_408del (p.Asn128TrpfsTer29)
c.204_231del (p.Asn69TrpfsTer7)
n.604_631del
c.81_108del (p.Asn28TrpfsTer29)
c.231_258del (p.Asn78TrpfsTer29)
c.204_231del (p.Asn69TrpfsTer29)
7g.150959644C>ACA369863736KCNH2n.1233G>T
c.400G>T (p.Glu134Ter)
c.223G>T (p.Glu75Ter)
n.623G>T
c.100G>T (p.Glu34Ter)
c.250G>T (p.Glu84Ter)
 ClinVar dbSNP
7g.150959644C>GCA369863737KCNH2n.1233G>C
c.400G>C (p.Glu134Gln)
c.223G>C (p.Glu75Gln)
n.623G>C
c.100G>C (p.Glu34Gln)
c.250G>C (p.Glu84Gln)
7g.150959644C>TCA369863738KCNH2n.1233G>A
c.400G>A (p.Glu134Lys)
c.223G>A (p.Glu75Lys)
n.623G>A
c.100G>A (p.Glu34Lys)
c.250G>A (p.Glu84Lys)
7g.150959645C>ACA369863739KCNH2n.1232G>T
c.399G>T (p.Met133Ile)
c.222G>T (p.Met74Ile)
n.622G>T
c.99G>T (p.Met33Ile)
c.249G>T (p.Met83Ile)
7g.150959645C>GCA369863740KCNH2n.1232G>C
c.399G>C (p.Met133Ile)
c.222G>C (p.Met74Ile)
n.622G>C
c.99G>C (p.Met33Ile)
c.249G>C (p.Met83Ile)
7g.150959645C>TCA369863741KCNH2n.1232G>A
c.399G>A (p.Met133Ile)
c.222G>A (p.Met74Ile)
n.622G>A
c.99G>A (p.Met33Ile)
c.249G>A (p.Met83Ile)
 COSMIC COSMIC
7g.150959646A=CA1752419968KCNH2n.1231T=
c.398T= (p.Met133=)
c.221T= (p.Met74=)
n.621T=
c.98T= (p.Met33=)
c.248T= (p.Met83=)
7g.150959646A>CCA369863742KCNH2n.1231T>G
c.398T>G (p.Met133Arg)
c.221T>G (p.Met74Arg)
n.621T>G
c.98T>G (p.Met33Arg)
c.248T>G (p.Met83Arg)
7g.150959646A>GCA008423KCNH2n.1231T>C
c.398T>C (p.Met133Thr)
c.221T>C (p.Met74Thr)
n.621T>C
c.98T>C (p.Met33Thr)
c.248T>C (p.Met83Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150959646A>TCA369863743KCNH2n.1231T>A
c.398T>A (p.Met133Lys)
c.221T>A (p.Met74Lys)
n.621T>A
c.98T>A (p.Met33Lys)
c.248T>A (p.Met83Lys)
7g.150959647delCA2580077717KCNH2n.1230del
c.397del (p.Met133TrpfsTer?)
c.220del (p.Met74TrpfsTer11)
n.620del
c.97del (p.Met33TrpfsTer?)
c.247del (p.Met83TrpfsTer?)
c.220del (p.Met74TrpfsTer?)
 ClinVar
7g.150959647T>ACA369863744KCNH2n.1230A>T
c.397A>T (p.Met133Leu)
c.220A>T (p.Met74Leu)
n.620A>T
c.97A>T (p.Met33Leu)
c.247A>T (p.Met83Leu)
7g.150959647T>CCA369863745KCNH2n.1230A>G
c.397A>G (p.Met133Val)
c.220A>G (p.Met74Val)
n.620A>G
c.97A>G (p.Met33Val)
c.247A>G (p.Met83Val)
 dbSNP
7g.150959647T>GCA369863746KCNH2n.1230A>C
c.397A>C (p.Met133Leu)
c.220A>C (p.Met74Leu)
n.620A>C
c.97A>C (p.Met33Leu)
c.247A>C (p.Met83Leu)
7g.150959647_150959650delinsTCACCA1752419972KCNH2n.1227_1230delinsGTGA
c.394_397delinsGTGA (p.Val132=)
c.217_220delinsGTGA (p.Val73=)
n.617_620delinsGTGA
c.94_97delinsGTGA (p.Val32=)
c.244_247delinsGTGA (p.Val82=)
7g.150959648C>ACA458646924KCNH2n.1229G>T
c.396G>T (p.Val132=)
c.219G>T (p.Val73=)
n.619G>T
c.96G>T (p.Val32=)
c.246G>T (p.Val82=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150959648C=CA1752419975KCNH2n.1229G=
c.396G= (p.Val132=)
c.219G= (p.Val73=)
n.619G=
c.96G= (p.Val32=)
c.246G= (p.Val82=)
7g.150959648C>GCA458646925KCNH2n.1229G>C
c.396G>C (p.Val132=)
c.219G>C (p.Val73=)
n.619G>C
c.96G>C (p.Val32=)
c.246G>C (p.Val82=)
7g.150959648C>TCA458646926KCNH2n.1229G>A
c.396G>A (p.Val132=)
c.219G>A (p.Val73=)
n.619G>A
c.96G>A (p.Val32=)
c.246G>A (p.Val82=)
7g.150959652_150959654delCA579075526KCNH2n.1227_1229del
c.394_396del (p.Val132del)
c.217_219del (p.Val73del)
n.617_619del
c.94_96del (p.Val32del)
c.244_246del (p.Val82del)
 dbSNP gnomAD v2 gnomAD v4
7g.150959649A>CCA369863748KCNH2n.1228T>G
c.395T>G (p.Val132Gly)
c.218T>G (p.Val73Gly)
n.618T>G
c.95T>G (p.Val32Gly)
c.245T>G (p.Val82Gly)
7g.150959649A>GCA369863749KCNH2n.1228T>C
c.395T>C (p.Val132Ala)
c.218T>C (p.Val73Ala)
n.618T>C
c.95T>C (p.Val32Ala)
c.245T>C (p.Val82Ala)
 gnomAD v4
7g.150959649A>TCA369863747KCNH2n.1228T>A
c.395T>A (p.Val132Glu)
c.218T>A (p.Val73Glu)
n.618T>A
c.95T>A (p.Val32Glu)
c.245T>A (p.Val82Glu)
7g.150959650C>ACA369863750KCNH2n.1227G>T
c.394G>T (p.Val132Leu)
c.217G>T (p.Val73Leu)
n.617G>T
c.94G>T (p.Val32Leu)
c.244G>T (p.Val82Leu)
7g.150959650C>GCA369863751KCNH2n.1227G>C
c.394G>C (p.Val132Leu)
c.217G>C (p.Val73Leu)
n.617G>C
c.94G>C (p.Val32Leu)
c.244G>C (p.Val82Leu)
7g.150959650C>TCA369863752KCNH2n.1227G>A
c.394G>A (p.Val132Met)
c.217G>A (p.Val73Met)
n.617G>A
c.94G>A (p.Val32Met)
c.244G>A (p.Val82Met)
7g.150959651C>ACA458646927KCNH2n.1226G>T
c.393G>T (p.Val131=)
c.216G>T (p.Val72=)
n.616G>T
c.93G>T (p.Val31=)
c.243G>T (p.Val81=)
7g.150959651C=CA1752419978KCNH2n.1226G=
c.393G= (p.Val131=)
c.216G= (p.Val72=)
n.616G=
c.93G= (p.Val31=)
c.243G= (p.Val81=)
7g.150959651C>GCA458646928KCNH2n.1226G>C
c.393G>C (p.Val131=)
c.216G>C (p.Val72=)
n.616G>C
c.93G>C (p.Val31=)
c.243G>C (p.Val81=)
7g.150959651C>TCA039286KCNH2n.1226G>A
c.393G>A (p.Val131=)
c.216G>A (p.Val72=)
n.616G>A
c.93G>A (p.Val31=)
c.243G>A (p.Val81=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150959652A>CCA369863753KCNH2n.1225T>G
c.392T>G (p.Val131Gly)
c.215T>G (p.Val72Gly)
n.615T>G
c.92T>G (p.Val31Gly)
c.242T>G (p.Val81Gly)
7g.150959652A>GCA369863754KCNH2n.1225T>C
c.392T>C (p.Val131Ala)
c.215T>C (p.Val72Ala)
n.615T>C
c.92T>C (p.Val31Ala)
c.242T>C (p.Val81Ala)
 ClinVar gnomAD v4
7g.150959652A>TCA369863755KCNH2n.1225T>A
c.392T>A (p.Val131Glu)
c.215T>A (p.Val72Glu)
n.615T>A
c.92T>A (p.Val31Glu)
c.242T>A (p.Val81Glu)
7g.150959653C>ACA039271KCNH2n.1224G>T
c.391G>T (p.Val131Leu)
c.214G>T (p.Val72Leu)
n.614G>T
c.91G>T (p.Val31Leu)
c.241G>T (p.Val81Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959653C=CA1752419985KCNH2n.1224G=
c.391G= (p.Val131=)
c.214G= (p.Val72=)
n.614G=
c.91G= (p.Val31=)
c.241G= (p.Val81=)
7g.150959653C>GCA369863756KCNH2n.1224G>C
c.391G>C (p.Val131Leu)
c.214G>C (p.Val72Leu)
n.614G>C
c.91G>C (p.Val31Leu)
c.241G>C (p.Val81Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.150959653C>TCA369863757KCNH2n.1224G>A
c.391G>A (p.Val131Met)
c.214G>A (p.Val72Met)
n.614G>A
c.91G>A (p.Val31Met)
c.241G>A (p.Val81Met)
 ClinVar dbSNP
7g.150959654C>ACA071494KCNH2n.1223G>T
c.390G>T (p.Glu130Asp)
c.213G>T (p.Glu71Asp)
n.613G>T
c.90G>T (p.Glu30Asp)
c.240G>T (p.Glu80Asp)
7g.150959654C>GCA369863758KCNH2n.1223G>C
c.390G>C (p.Glu130Asp)
c.213G>C (p.Glu71Asp)
n.613G>C
c.90G>C (p.Glu30Asp)
c.240G>C (p.Glu80Asp)
7g.150959654C>TCA458646929KCNH2n.1223G>A
c.390G>A (p.Glu130=)
c.213G>A (p.Glu71=)
n.613G>A
c.90G>A (p.Glu30=)
c.240G>A (p.Glu80=)
7g.150959655T>ACA369863760KCNH2n.1222A>T
c.389A>T (p.Glu130Val)
c.212A>T (p.Glu71Val)
n.612A>T
c.89A>T (p.Glu30Val)
c.239A>T (p.Glu80Val)
7g.150959655T>CCA369863761KCNH2n.1222A>G
c.389A>G (p.Glu130Gly)
c.212A>G (p.Glu71Gly)
n.612A>G
c.89A>G (p.Glu30Gly)
c.239A>G (p.Glu80Gly)
7g.150959655T>GCA369863759KCNH2n.1222A>C
c.389A>C (p.Glu130Ala)
c.212A>C (p.Glu71Ala)
n.612A>C
c.89A>C (p.Glu30Ala)
c.239A>C (p.Glu80Ala)
7g.150959656C>ACA369863762KCNH2n.1221G>T
c.388G>T (p.Glu130Ter)
c.211G>T (p.Glu71Ter)
n.611G>T
c.88G>T (p.Glu30Ter)
c.238G>T (p.Glu80Ter)
7g.150959656C=CA1752419989KCNH2n.1221G=
c.388G= (p.Glu130=)
c.211G= (p.Glu71=)
n.611G=
c.88G= (p.Glu30=)
c.238G= (p.Glu80=)
7g.150959656C>GCA369863763KCNH2n.1221G>C
c.388G>C (p.Glu130Gln)
c.211G>C (p.Glu71Gln)
n.611G>C
c.88G>C (p.Glu30Gln)
c.238G>C (p.Glu80Gln)
7g.150959656C>TCA008414KCNH2n.1221G>A
c.388G>A (p.Glu130Lys)
c.211G>A (p.Glu71Lys)
n.611G>A
c.88G>A (p.Glu30Lys)
c.238G>A (p.Glu80Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.150959657G>ACA039243KCNH2n.1220C>T
c.387C>T (p.Phe129=)
c.210C>T (p.Phe70=)
n.610C>T
c.87C>T (p.Phe29=)
c.237C>T (p.Phe79=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150959657G>CCA008406KCNH2n.1220C>G
c.387C>G (p.Phe129Leu)
c.210C>G (p.Phe70Leu)
n.610C>G
c.87C>G (p.Phe29Leu)
c.237C>G (p.Phe79Leu)
 ClinVar dbSNP
7g.150959657G=CA1752419999KCNH2n.1220C=
c.387C= (p.Phe129=)
c.210C= (p.Phe70=)
n.610C=
c.87C= (p.Phe29=)
c.237C= (p.Phe79=)
7g.150959657G>TCA369863764KCNH2n.1220C>A
c.387C>A (p.Phe129Leu)
c.210C>A (p.Phe70Leu)
n.610C>A
c.87C>A (p.Phe29Leu)
c.237C>A (p.Phe79Leu)
7g.150959660_150959671delCA2695208665KCNH2n.1209_1220del
c.376_387del (p.Ile126_Phe129del)
c.199_210del (p.Ile67_Phe70del)
n.599_610del
c.76_87del (p.Ile26_Phe29del)
c.226_237del (p.Ile76_Phe79del)
7g.150959658A>CCA369863765KCNH2n.1219T>G
c.386T>G (p.Phe129Cys)
c.209T>G (p.Phe70Cys)
n.609T>G
c.86T>G (p.Phe29Cys)
c.236T>G (p.Phe79Cys)
7g.150959658A>GCA369863767KCNH2n.1219T>C
c.386T>C (p.Phe129Ser)
c.209T>C (p.Phe70Ser)
n.609T>C
c.86T>C (p.Phe29Ser)
c.236T>C (p.Phe79Ser)
7g.150959658A>TCA369863766KCNH2n.1219T>A
c.386T>A (p.Phe129Tyr)
c.209T>A (p.Phe70Tyr)
n.609T>A
c.86T>A (p.Phe29Tyr)
c.236T>A (p.Phe79Tyr)
7g.150959659A>CCA369863768KCNH2n.1218T>G
c.385T>G (p.Phe129Val)
c.208T>G (p.Phe70Val)
n.608T>G
c.85T>G (p.Phe29Val)
c.235T>G (p.Phe79Val)
7g.150959659A>GCA369863769KCNH2n.1218T>C
c.385T>C (p.Phe129Leu)
c.208T>C (p.Phe70Leu)
n.608T>C
c.85T>C (p.Phe29Leu)
c.235T>C (p.Phe79Leu)
7g.150959659A>TCA369863770KCNH2n.1218T>A
c.385T>A (p.Phe129Ile)
c.208T>A (p.Phe70Ile)
n.608T>A
c.85T>A (p.Phe29Ile)
c.235T>A (p.Phe79Ile)
7g.150959660A>CCA369863771KCNH2n.1217T>G
c.384T>G (p.Asn128Lys)
c.207T>G (p.Asn69Lys)
n.607T>G
c.84T>G (p.Asn28Lys)
c.234T>G (p.Asn78Lys)
7g.150959660A>GCA458646930KCNH2n.1217T>C
c.384T>C (p.Asn128=)
c.207T>C (p.Asn69=)
n.607T>C
c.84T>C (p.Asn28=)
c.234T>C (p.Asn78=)
7g.150959660A>TCA369863772KCNH2n.1217T>A
c.384T>A (p.Asn128Lys)
c.207T>A (p.Asn69Lys)
n.607T>A
c.84T>A (p.Asn28Lys)
c.234T>A (p.Asn78Lys)
7g.150959661T>ACA369863774KCNH2n.1216A>T
c.383A>T (p.Asn128Ile)
c.206A>T (p.Asn69Ile)
n.606A>T
c.83A>T (p.Asn28Ile)
c.233A>T (p.Asn78Ile)
7g.150959661T>CCA008400KCNH2n.1216A>G
c.383A>G (p.Asn128Ser)
c.206A>G (p.Asn69Ser)
n.606A>G
c.83A>G (p.Asn28Ser)
c.233A>G (p.Asn78Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959661T>GCA369863773KCNH2n.1216A>C
c.383A>C (p.Asn128Thr)
c.206A>C (p.Asn69Thr)
n.606A>C
c.83A>C (p.Asn28Thr)
c.233A>C (p.Asn78Thr)
 ClinVar dbSNP
7g.150959661T=CA1752420003KCNH2n.1216A=
c.383A= (p.Asn128=)
c.206A= (p.Asn69=)
n.606A=
c.83A= (p.Asn28=)
c.233A= (p.Asn78=)
7g.150959662T>ACA369863775KCNH2n.1215A>T
c.382A>T (p.Asn128Tyr)
c.205A>T (p.Asn69Tyr)
n.605A>T
c.82A>T (p.Asn28Tyr)
c.232A>T (p.Asn78Tyr)
7g.150959662T>CCA369863777KCNH2n.1215A>G
c.382A>G (p.Asn128Asp)
c.205A>G (p.Asn69Asp)
n.605A>G
c.82A>G (p.Asn28Asp)
c.232A>G (p.Asn78Asp)
7g.150959662T>GCA369863776KCNH2n.1215A>C
c.382A>C (p.Asn128His)
c.205A>C (p.Asn69His)
n.605A>C
c.82A>C (p.Asn28His)
c.232A>C (p.Asn78His)
7g.150959663G>ACA458646932KCNH2n.1214C>T
c.381C>T (p.Leu127=)
c.204C>T (p.Leu68=)
n.604C>T
c.81C>T (p.Leu27=)
c.231C>T (p.Leu77=)
7g.150959663G>CCA458646933KCNH2n.1214C>G
c.381C>G (p.Leu127=)
c.204C>G (p.Leu68=)
n.604C>G
c.81C>G (p.Leu27=)
c.231C>G (p.Leu77=)
7g.150959663G>TCA458646931KCNH2n.1214C>A
c.381C>A (p.Leu127=)
c.204C>A (p.Leu68=)
n.604C>A
c.81C>A (p.Leu27=)
c.231C>A (p.Leu77=)
7g.150959665_150959667delCA2695208666KCNH2n.1212_1214del
c.379_381del (p.Leu127del)
c.202_204del (p.Leu68del)
n.602_604del
c.79_81del (p.Leu27del)
c.229_231del (p.Leu77del)
7g.150959664A>CCA369863778KCNH2n.1213T>G
c.380T>G (p.Leu127Arg)
c.203T>G (p.Leu68Arg)
n.603T>G
c.80T>G (p.Leu27Arg)
c.230T>G (p.Leu77Arg)
7g.150959664A>GCA369863779KCNH2n.1213T>C
c.380T>C (p.Leu127Pro)
c.203T>C (p.Leu68Pro)
n.603T>C
c.80T>C (p.Leu27Pro)
c.230T>C (p.Leu77Pro)
7g.150959664A>TCA369863780KCNH2n.1213T>A
c.380T>A (p.Leu127His)
c.203T>A (p.Leu68His)
n.603T>A
c.80T>A (p.Leu27His)
c.230T>A (p.Leu77His)
7g.150959665G>ACA008393KCNH2n.1212C>T
c.379C>T (p.Leu127Phe)
c.202C>T (p.Leu68Phe)
n.602C>T
c.79C>T (p.Leu27Phe)
c.229C>T (p.Leu77Phe)
 ClinVar dbSNP COSMIC
7g.150959665G>CCA369863781KCNH2n.1212C>G
c.379C>G (p.Leu127Val)
c.202C>G (p.Leu68Val)
n.602C>G
c.79C>G (p.Leu27Val)
c.229C>G (p.Leu77Val)
7g.150959665G=CA1752420008KCNH2n.1212C=
c.379C= (p.Leu127=)
c.202C= (p.Leu68=)
n.602C=
c.79C= (p.Leu27=)
c.229C= (p.Leu77=)
7g.150959665G>TCA369863782KCNH2n.1212C>A
c.379C>A (p.Leu127Ile)
c.202C>A (p.Leu68Ile)
n.602C>A
c.79C>A (p.Leu27Ile)
c.229C>A (p.Leu77Ile)
7g.150959666G>ACA458646934KCNH2n.1211C>T
c.378C>T (p.Ile126=)
c.201C>T (p.Ile67=)
n.601C>T
c.78C>T (p.Ile26=)
c.228C>T (p.Ile76=)
7g.150959666G>CCA369863783KCNH2n.1211C>G
c.378C>G (p.Ile126Met)
c.201C>G (p.Ile67Met)
n.601C>G
c.78C>G (p.Ile26Met)
c.228C>G (p.Ile76Met)
7g.150959666G>TCA458646935KCNH2n.1211C>A
c.378C>A (p.Ile126=)
c.201C>A (p.Ile67=)
n.601C>A
c.78C>A (p.Ile26=)
c.228C>A (p.Ile76=)
 gnomAD v4
7g.150959666_150959667insTTTTTTCA2525755366KCNH2n.1210_1211insAAAAAA
c.377_378insAAAAAA (p.Ile126_Leu127insLysAsn)
c.200_201insAAAAAA (p.Ile67_Leu68insLysAsn)
n.600_601insAAAAAA
c.77_78insAAAAAA (p.Ile26_Leu27insLysAsn)
c.227_228insAAAAAA (p.Ile76_Leu77insLysAsn)
7g.150959667A=CA1752420012KCNH2n.1210T=
c.377T= (p.Ile126=)
c.200T= (p.Ile67=)
n.600T=
c.77T= (p.Ile26=)
c.227T= (p.Ile76=)
7g.150959667A>CCA369863784KCNH2n.1210T>G
c.377T>G (p.Ile126Ser)
c.200T>G (p.Ile67Ser)
n.600T>G
c.77T>G (p.Ile26Ser)
c.227T>G (p.Ile76Ser)
7g.150959667A>GCA369863785KCNH2n.1210T>C
c.377T>C (p.Ile126Thr)
c.200T>C (p.Ile67Thr)
n.600T>C
c.77T>C (p.Ile26Thr)
c.227T>C (p.Ile76Thr)
7g.150959667A>TCA369863786KCNH2n.1210T>A
c.377T>A (p.Ile126Asn)
c.200T>A (p.Ile67Asn)
n.600T>A
c.77T>A (p.Ile26Asn)
c.227T>A (p.Ile76Asn)
 ClinVar dbSNP
7g.150959668T>ACA369863787KCNH2n.1209A>T
c.376A>T (p.Ile126Phe)
c.199A>T (p.Ile67Phe)
n.599A>T
c.76A>T (p.Ile26Phe)
c.226A>T (p.Ile76Phe)
 ClinVar
7g.150959668T>CCA369863788KCNH2n.1209A>G
c.376A>G (p.Ile126Val)
c.199A>G (p.Ile67Val)
n.599A>G
c.76A>G (p.Ile26Val)
c.226A>G (p.Ile76Val)
 gnomAD v4
7g.150959668T>GCA369863789KCNH2n.1209A>C
c.376A>C (p.Ile126Leu)
c.199A>C (p.Ile67Leu)
n.599A>C
c.76A>C (p.Ile26Leu)
c.226A>C (p.Ile76Leu)
7g.150959668_150959672delCA2511849902KCNH2n.1205_1209del
c.372_376del (p.Met124IlefsTer19)
c.195_199del (p.Met65IlefsTer?)
n.595_599del
c.72_76del (p.Met24IlefsTer19)
c.222_226del (p.Met74IlefsTer19)
c.195_199del (p.Met65IlefsTer19)
7g.150959669G>ACA458646936KCNH2n.1208C>T
c.375C>T (p.Phe125=)
c.198C>T (p.Phe66=)
n.598C>T
c.75C>T (p.Phe25=)
c.225C>T (p.Phe75=)
 COSMIC COSMIC
7g.150959669G>CCA369863790KCNH2n.1208C>G
c.375C>G (p.Phe125Leu)
c.198C>G (p.Phe66Leu)
n.598C>G
c.75C>G (p.Phe25Leu)
c.225C>G (p.Phe75Leu)
7g.150959669G>TCA369863791KCNH2n.1208C>A
c.375C>A (p.Phe125Leu)
c.198C>A (p.Phe66Leu)
n.598C>A
c.75C>A (p.Phe25Leu)
c.225C>A (p.Phe75Leu)
7g.150959670A=CA1752420016KCNH2n.1207T=
c.374T= (p.Phe125=)
c.197T= (p.Phe66=)
n.597T=
c.74T= (p.Phe25=)
c.224T= (p.Phe75=)
7g.150959670A>CCA008385KCNH2n.1207T>G
c.374T>G (p.Phe125Cys)
c.197T>G (p.Phe66Cys)
n.597T>G
c.74T>G (p.Phe25Cys)
c.224T>G (p.Phe75Cys)
 ClinVar dbSNP
7g.150959670A>GCA369863792KCNH2n.1207T>C
c.374T>C (p.Phe125Ser)
c.197T>C (p.Phe66Ser)
n.597T>C
c.74T>C (p.Phe25Ser)
c.224T>C (p.Phe75Ser)
7g.150959670A>TCA369863793KCNH2n.1207T>A
c.374T>A (p.Phe125Tyr)
c.197T>A (p.Phe66Tyr)
n.597T>A
c.74T>A (p.Phe25Tyr)
c.224T>A (p.Phe75Tyr)
7g.150959670_150959671insCCACCA008376KCNH2n.1206_1207insGTGG
c.373_374insGTGG (p.Phe125CysfsTer21)
c.196_197insGTGG (p.Phe66CysfsTer?)
n.596_597insGTGG
c.73_74insGTGG (p.Phe25CysfsTer21)
c.223_224insGTGG (p.Phe75CysfsTer21)
c.196_197insGTGG (p.Phe66CysfsTer21)
 ClinVar dbSNP
7g.150959671A=CA1752420024KCNH2n.1206T=
c.373T= (p.Phe125=)
c.196T= (p.Phe66=)
n.596T=
c.73T= (p.Phe25=)
c.223T= (p.Phe75=)
7g.150959671A>CCA369863794KCNH2n.1206T>G
c.373T>G (p.Phe125Val)
c.196T>G (p.Phe66Val)
n.596T>G
c.73T>G (p.Phe25Val)
c.223T>G (p.Phe75Val)
7g.150959671A>GCA369863795KCNH2n.1206T>C
c.373T>C (p.Phe125Leu)
c.196T>C (p.Phe66Leu)
n.596T>C
c.73T>C (p.Phe25Leu)
c.223T>C (p.Phe75Leu)
 ClinVar dbSNP
7g.150959671A>TCA369863796KCNH2n.1206T>A
c.373T>A (p.Phe125Ile)
c.196T>A (p.Phe66Ile)
n.596T>A
c.73T>A (p.Phe25Ile)
c.223T>A (p.Phe75Ile)
7g.150959672C>ACA369863797KCNH2n.1205G>T
c.372G>T (p.Met124Ile)
c.195G>T (p.Met65Ile)
n.595G>T
c.72G>T (p.Met24Ile)
c.222G>T (p.Met74Ile)
7g.150959672C>GCA369863798KCNH2n.1205G>C
c.372G>C (p.Met124Ile)
c.195G>C (p.Met65Ile)
n.595G>C
c.72G>C (p.Met24Ile)
c.222G>C (p.Met74Ile)
7g.150959672C>TCA369863799KCNH2n.1205G>A
c.372G>A (p.Met124Ile)
c.195G>A (p.Met65Ile)
n.595G>A
c.72G>A (p.Met24Ile)
c.222G>A (p.Met74Ile)
7g.150959673A=CA1752420030KCNH2n.1204T=
c.371T= (p.Met124=)
c.194T= (p.Met65=)
n.594T=
c.71T= (p.Met24=)
c.221T= (p.Met74=)
7g.150959673A>CCA008369KCNH2n.1204T>G
c.371T>G (p.Met124Arg)
c.194T>G (p.Met65Arg)
n.594T>G
c.71T>G (p.Met24Arg)
c.221T>G (p.Met74Arg)
 ClinVar dbSNP
7g.150959673A>GCA008362KCNH2n.1204T>C
c.371T>C (p.Met124Thr)
c.194T>C (p.Met65Thr)
n.594T>C
c.71T>C (p.Met24Thr)
c.221T>C (p.Met74Thr)
 ClinVar dbSNP
7g.150959673A>TCA369863800KCNH2n.1204T>A
c.371T>A (p.Met124Lys)
c.194T>A (p.Met65Lys)
n.594T>A
c.71T>A (p.Met24Lys)
c.221T>A (p.Met74Lys)
7g.150959677_150959679delCA2697549701KCNH2n.1202_1204del
c.369_371del (p.Ile123del)
c.192_194del (p.Ile64del)
n.592_594del
c.69_71del (p.Ile23del)
c.219_221del (p.Ile73del)
 ClinVar
7g.150959674T>ACA369863801KCNH2n.1203A>T
c.370A>T (p.Met124Leu)
c.193A>T (p.Met65Leu)
n.593A>T
c.70A>T (p.Met24Leu)
c.220A>T (p.Met74Leu)
7g.150959674T>CCA369863803KCNH2n.1203A>G
c.370A>G (p.Met124Val)
c.193A>G (p.Met65Val)
n.593A>G
c.70A>G (p.Met24Val)
c.220A>G (p.Met74Val)
 ClinVar gnomAD v4
7g.150959674T>GCA369863802KCNH2n.1203A>C
c.370A>C (p.Met124Leu)
c.193A>C (p.Met65Leu)
n.593A>C
c.70A>C (p.Met24Leu)
c.220A>C (p.Met74Leu)
 gnomAD v4
7g.150959675G>ACA458646937KCNH2n.1202C>T
c.369C>T (p.Ile123=)
c.192C>T (p.Ile64=)
n.592C>T
c.69C>T (p.Ile23=)
c.219C>T (p.Ile73=)
7g.150959675G>CCA369863804KCNH2n.1202C>G
c.369C>G (p.Ile123Met)
c.192C>G (p.Ile64Met)
n.592C>G
c.69C>G (p.Ile23Met)
c.219C>G (p.Ile73Met)
7g.150959675G>TCA458646938KCNH2n.1202C>A
c.369C>A (p.Ile123=)
c.192C>A (p.Ile64=)
n.592C>A
c.69C>A (p.Ile23=)
c.219C>A (p.Ile73=)
7g.150959676A>CCA369863805KCNH2n.1201T>G
c.368T>G (p.Ile123Ser)
c.191T>G (p.Ile64Ser)
n.591T>G
c.68T>G (p.Ile23Ser)
c.218T>G (p.Ile73Ser)
7g.150959676A>GCA369863806KCNH2n.1201T>C
c.368T>C (p.Ile123Thr)
c.191T>C (p.Ile64Thr)
n.591T>C
c.68T>C (p.Ile23Thr)
c.218T>C (p.Ile73Thr)
7g.150959676A>TCA369863807KCNH2n.1201T>A
c.368T>A (p.Ile123Asn)
c.191T>A (p.Ile64Asn)
n.591T>A
c.68T>A (p.Ile23Asn)
c.218T>A (p.Ile73Asn)
7g.150959677T>ACA369863808KCNH2n.1200A>T
c.367A>T (p.Ile123Phe)
c.190A>T (p.Ile64Phe)
n.590A>T
c.67A>T (p.Ile23Phe)
c.217A>T (p.Ile73Phe)
7g.150959677T>CCA369863809KCNH2n.1200A>G
c.367A>G (p.Ile123Val)
c.190A>G (p.Ile64Val)
n.590A>G
c.67A>G (p.Ile23Val)
c.217A>G (p.Ile73Val)
7g.150959677T>GCA369863810KCNH2n.1200A>C
c.367A>C (p.Ile123Leu)
c.190A>C (p.Ile64Leu)
n.590A>C
c.67A>C (p.Ile23Leu)
c.217A>C (p.Ile73Leu)
 dbSNP
7g.150959678delCA2539179769KCNH2n.1199del
c.366del (p.Ile123SerfsTer10)
c.189del (p.Ile64SerfsTer10)
n.589del
c.66del (p.Ile23SerfsTer10)
c.216del (p.Ile73SerfsTer10)
7g.150959678G>ACA071160KCNH2n.1199C>T
c.366C>T (p.Val122=)
c.189C>T (p.Val63=)
n.589C>T
c.66C>T (p.Val22=)
c.216C>T (p.Val72=)
 gnomAD v4
7g.150959678G>CCA458646940KCNH2n.1199C>G
c.366C>G (p.Val122=)
c.189C>G (p.Val63=)
n.589C>G
c.66C>G (p.Val22=)
c.216C>G (p.Val72=)
7g.150959678G>TCA458646939KCNH2n.1199C>A
c.366C>A (p.Val122=)
c.189C>A (p.Val63=)
n.589C>A
c.66C>A (p.Val22=)
c.216C>A (p.Val72=)
7g.150959679A>CCA369863811KCNH2n.1198T>G
c.365T>G (p.Val122Gly)
c.188T>G (p.Val63Gly)
n.588T>G
c.65T>G (p.Val22Gly)
c.215T>G (p.Val72Gly)
7g.150959679A>GCA369863812KCNH2n.1198T>C
c.365T>C (p.Val122Ala)
c.188T>C (p.Val63Ala)
n.588T>C
c.65T>C (p.Val22Ala)
c.215T>C (p.Val72Ala)
7g.150959679A>TCA369863813KCNH2n.1198T>A
c.365T>A (p.Val122Asp)
c.188T>A (p.Val63Asp)
n.588T>A
c.65T>A (p.Val22Asp)
c.215T>A (p.Val72Asp)
7g.150959680C>ACA369863814KCNH2n.1197G>T
c.364G>T (p.Val122Phe)
c.187G>T (p.Val63Phe)
n.587G>T
c.64G>T (p.Val22Phe)
c.214G>T (p.Val72Phe)
7g.150959680C>GCA369863815KCNH2n.1197G>C
c.364G>C (p.Val122Leu)
c.187G>C (p.Val63Leu)
n.587G>C
c.64G>C (p.Val22Leu)
c.214G>C (p.Val72Leu)
7g.150959680C>TCA369863816KCNH2n.1197G>A
c.364G>A (p.Val122Ile)
c.187G>A (p.Val63Ile)
n.587G>A
c.64G>A (p.Val22Ile)
c.214G>A (p.Val72Ile)
7g.150959681A=CA1752420034KCNH2n.1196T=
c.363T= (p.Ala121=)
c.186T= (p.Ala62=)
n.586T=
c.63T= (p.Ala21=)
c.213T= (p.Ala71=)
7g.150959681A>CCA458646941KCNH2n.1196T>G
c.363T>G (p.Ala121=)
c.186T>G (p.Ala62=)
n.586T>G
c.63T>G (p.Ala21=)
c.213T>G (p.Ala71=)
7g.150959681A>GCA458646942KCNH2n.1196T>C
c.363T>C (p.Ala121=)
c.186T>C (p.Ala62=)
n.586T>C
c.63T>C (p.Ala21=)
c.213T>C (p.Ala71=)
 dbSNP
7g.150959681A>TCA458646943KCNH2n.1196T>A
c.363T>A (p.Ala121=)
c.186T>A (p.Ala62=)
n.586T>A
c.63T>A (p.Ala21=)
c.213T>A (p.Ala71=)
7g.150959682G>ACA369863819KCNH2n.1195C>T
c.362C>T (p.Ala121Val)
c.185C>T (p.Ala62Val)
n.585C>T
c.62C>T (p.Ala21Val)
c.212C>T (p.Ala71Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150959682G>CCA369863817KCNH2n.1195C>G
c.362C>G (p.Ala121Gly)
c.185C>G (p.Ala62Gly)
n.585C>G
c.62C>G (p.Ala21Gly)
c.212C>G (p.Ala71Gly)
7g.150959682G=CA1752420039KCNH2n.1195C=
c.362C= (p.Ala121=)
c.185C= (p.Ala62=)
n.585C=
c.62C= (p.Ala21=)
c.212C= (p.Ala71=)
7g.150959682G>TCA369863818KCNH2n.1195C>A
c.362C>A (p.Ala121Asp)
c.185C>A (p.Ala62Asp)
n.585C>A
c.62C>A (p.Ala21Asp)
c.212C>A (p.Ala71Asp)
7g.150959682_150959683delinsGCCA1752420038KCNH2n.1194_1195delinsGC
c.361_362delinsGC (p.Ala121=)
c.184_185delinsGC (p.Ala62=)
n.584_585delinsGC
c.61_62delinsGC (p.Ala21=)
c.211_212delinsGC (p.Ala71=)
7g.150959683C>ACA369863820KCNH2n.1194G>T
c.361G>T (p.Ala121Ser)
c.184G>T (p.Ala62Ser)
n.584G>T
c.61G>T (p.Ala21Ser)
c.211G>T (p.Ala71Ser)
7g.150959683C>GCA369863821KCNH2n.1194G>C
c.361G>C (p.Ala121Pro)
c.184G>C (p.Ala62Pro)
n.584G>C
c.61G>C (p.Ala21Pro)
c.211G>C (p.Ala71Pro)
7g.150959683C>TCA369863822KCNH2n.1194G>A
c.361G>A (p.Ala121Thr)
c.184G>A (p.Ala62Thr)
n.584G>A
c.61G>A (p.Ala21Thr)
c.211G>A (p.Ala71Thr)
 COSMIC COSMIC
7g.150959686delCA008354KCNH2n.1194del
c.361del (p.Ala121LeufsTer12)
c.184del (p.Ala62LeufsTer12)
n.584del
c.61del (p.Ala21LeufsTer12)
c.211del (p.Ala71LeufsTer12)
 dbSNP
7g.150959683_150959684insGCA2563154916KCNH2n.1193_1194insC
c.360_361insC (p.Ala121ArgfsTer24)
c.183_184insC (p.Ala62ArgfsTer?)
n.583_584insC
c.60_61insC (p.Ala21ArgfsTer24)
c.210_211insC (p.Ala71ArgfsTer24)
c.183_184insC (p.Ala62ArgfsTer24)
7g.150959684C>ACA458646944KCNH2n.1193G>T
c.360G>T (p.Gly120=)
c.183G>T (p.Gly61=)
n.583G>T
c.60G>T (p.Gly20=)
c.210G>T (p.Gly70=)
7g.150959684C>GCA458646945KCNH2n.1193G>C
c.360G>C (p.Gly120=)
c.183G>C (p.Gly61=)
n.583G>C
c.60G>C (p.Gly20=)
c.210G>C (p.Gly70=)
7g.150959684C>TCA458646946KCNH2n.1193G>A
c.360G>A (p.Gly120=)
c.183G>A (p.Gly61=)
n.583G>A
c.60G>A (p.Gly20=)
c.210G>A (p.Gly70=)
 ClinVar gnomAD v4
7g.150959685C>ACA369863823KCNH2n.1192G>T
c.359G>T (p.Gly120Val)
c.182G>T (p.Gly61Val)
n.582G>T
c.59G>T (p.Gly20Val)
c.209G>T (p.Gly70Val)
7g.150959685C>GCA369863824KCNH2n.1192G>C
c.359G>C (p.Gly120Ala)
c.182G>C (p.Gly61Ala)
n.582G>C
c.59G>C (p.Gly20Ala)
c.209G>C (p.Gly70Ala)
 dbSNP
7g.150959685C>TCA369863825KCNH2n.1192G>A
c.359G>A (p.Gly120Glu)
c.182G>A (p.Gly61Glu)
n.582G>A
c.59G>A (p.Gly20Glu)
c.209G>A (p.Gly70Glu)
7g.150959686C>ACA369863826KCNH2n.1191G>T
c.358G>T (p.Gly120Trp)
c.181G>T (p.Gly61Trp)
n.581G>T
c.58G>T (p.Gly20Trp)
c.208G>T (p.Gly70Trp)
7g.150959686C>GCA369863827KCNH2n.1191G>C
c.358G>C (p.Gly120Arg)
c.181G>C (p.Gly61Arg)
n.581G>C
c.58G>C (p.Gly20Arg)
c.208G>C (p.Gly70Arg)
7g.150959686C>TCA369863828KCNH2n.1191G>A
c.358G>A (p.Gly120Arg)
c.181G>A (p.Gly61Arg)
n.581G>A
c.58G>A (p.Gly20Arg)
c.208G>A (p.Gly70Arg)
7g.150959687A>CCA369863829KCNH2n.1190T>G
c.357T>G (p.Asp119Glu)
c.180T>G (p.Asp60Glu)
n.580T>G
c.57T>G (p.Asp19Glu)
c.207T>G (p.Asp69Glu)
7g.150959687A>GCA458646947KCNH2n.1190T>C
c.357T>C (p.Asp119=)
c.180T>C (p.Asp60=)
n.580T>C
c.57T>C (p.Asp19=)
c.207T>C (p.Asp69=)
7g.150959687A>TCA369863830KCNH2n.1190T>A
c.357T>A (p.Asp119Glu)
c.180T>A (p.Asp60Glu)
n.580T>A
c.57T>A (p.Asp19Glu)
c.207T>A (p.Asp69Glu)
7g.150959688delCA2542784211KCNH2n.1189del
c.356del (p.Asp119ValfsTer14)
c.179del (p.Asp60ValfsTer14)
n.579del
c.56del (p.Asp19ValfsTer14)
c.206del (p.Asp69ValfsTer14)
7g.150959688T>ACA369863832KCNH2n.1189A>T
c.356A>T (p.Asp119Val)
c.179A>T (p.Asp60Val)
n.579A>T
c.56A>T (p.Asp19Val)
c.206A>T (p.Asp69Val)
7g.150959688T>CCA039202KCNH2n.1189A>G
c.356A>G (p.Asp119Gly)
c.179A>G (p.Asp60Gly)
n.579A>G
c.56A>G (p.Asp19Gly)
c.206A>G (p.Asp69Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150959688T>GCA369863831KCNH2n.1189A>C
c.356A>C (p.Asp119Ala)
c.179A>C (p.Asp60Ala)
n.579A>C
c.56A>C (p.Asp19Ala)
c.206A>C (p.Asp69Ala)
7g.150959688T=CA1752420045KCNH2n.1189A=
c.356A= (p.Asp119=)
c.179A= (p.Asp60=)
n.579A=
c.56A= (p.Asp19=)
c.206A= (p.Asp69=)
7g.150959689C>ACA369863833KCNH2n.1188G>T
c.355G>T (p.Asp119Tyr)
c.178G>T (p.Asp60Tyr)
n.578G>T
c.55G>T (p.Asp19Tyr)
c.205G>T (p.Asp69Tyr)
7g.150959689C=CA1752420047KCNH2n.1188G=
c.355G= (p.Asp119=)
c.178G= (p.Asp60=)
n.578G=
c.55G= (p.Asp19=)
c.205G= (p.Asp69=)
7g.150959689C>GCA039187KCNH2n.1188G>C
c.355G>C (p.Asp119His)
c.178G>C (p.Asp60His)
n.578G>C
c.55G>C (p.Asp19His)
c.205G>C (p.Asp69His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959689C>TCA169082204KCNH2n.1188G>A
c.355G>A (p.Asp119Asn)
c.178G>A (p.Asp60Asn)
n.578G>A
c.55G>A (p.Asp19Asn)
c.205G>A (p.Asp69Asn)
 dbSNP
7g.150959690C>ACA369863834KCNH2n.1187G>T
c.354G>T (p.Glu118Asp)
c.177G>T (p.Glu59Asp)
n.577G>T
c.54G>T (p.Glu18Asp)
c.204G>T (p.Glu68Asp)
7g.150959690C=CA1752420050KCNH2n.1187G=
c.354G= (p.Glu118=)
c.177G= (p.Glu59=)
n.577G=
c.54G= (p.Glu18=)
c.204G= (p.Glu68=)
7g.150959690C>GCA369863835KCNH2n.1187G>C
c.354G>C (p.Glu118Asp)
c.177G>C (p.Glu59Asp)
n.577G>C
c.54G>C (p.Glu18Asp)
c.204G>C (p.Glu68Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150959690C>TCA071079KCNH2n.1187G>A
c.354G>A (p.Glu118=)
c.177G>A (p.Glu59=)
n.577G>A
c.54G>A (p.Glu18=)
c.204G>A (p.Glu68=)
 gnomAD v4
7g.150959691T>ACA369863838KCNH2n.1186A>T
c.353A>T (p.Glu118Val)
c.176A>T (p.Glu59Val)
n.576A>T
c.53A>T (p.Glu18Val)
c.203A>T (p.Glu68Val)
7g.150959691T>CCA369863837KCNH2n.1186A>G
c.353A>G (p.Glu118Gly)
c.176A>G (p.Glu59Gly)
n.576A>G
c.53A>G (p.Glu18Gly)
c.203A>G (p.Glu68Gly)
7g.150959691T>GCA369863836KCNH2n.1186A>C
c.353A>C (p.Glu118Ala)
c.176A>C (p.Glu59Ala)
n.576A>C
c.53A>C (p.Glu18Ala)
c.203A>C (p.Glu68Ala)
7g.150959692C>ACA369863839KCNH2n.1185G>T
c.352G>T (p.Glu118Ter)
c.175G>T (p.Glu59Ter)
n.575G>T
c.52G>T (p.Glu18Ter)
c.202G>T (p.Glu68Ter)
7g.150959692C=CA1752420054KCNH2n.1185G=
c.352G= (p.Glu118=)
c.175G= (p.Glu59=)
n.575G=
c.52G= (p.Glu18=)
c.202G= (p.Glu68=)
7g.150959692C>GCA369863840KCNH2n.1185G>C
c.352G>C (p.Glu118Gln)
c.175G>C (p.Glu59Gln)
n.575G>C
c.52G>C (p.Glu18Gln)
c.202G>C (p.Glu68Gln)
 ClinVar dbSNP
7g.150959692C>TCA039170KCNH2n.1185G>A
c.352G>A (p.Glu118Lys)
c.175G>A (p.Glu59Lys)
n.575G>A
c.52G>A (p.Glu18Lys)
c.202G>A (p.Glu68Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150959692_150959693dupCA2695208668KCNH2n.1184_1185dup
c.351_352dup (p.Glu118AlafsTer16)
c.174_175dup (p.Glu59AlafsTer16)
n.574_575dup
c.51_52dup (p.Glu18AlafsTer16)
c.201_202dup (p.Glu68AlafsTer16)
7g.150959693G>ACA039159KCNH2n.1184C>T
c.351C>T (p.Asn117=)
c.174C>T (p.Asn58=)
n.574C>T
c.51C>T (p.Asn17=)
c.201C>T (p.Asn67=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959693G>CCA369863841KCNH2n.1184C>G
c.351C>G (p.Asn117Lys)
c.174C>G (p.Asn58Lys)
n.574C>G
c.51C>G (p.Asn17Lys)
c.201C>G (p.Asn67Lys)
7g.150959693G=CA1752420058KCNH2n.1184C=
c.351C= (p.Asn117=)
c.174C= (p.Asn58=)
n.574C=
c.51C= (p.Asn17=)
c.201C= (p.Asn67=)
7g.150959693G>TCA369863842KCNH2n.1184C>A
c.351C>A (p.Asn117Lys)
c.174C>A (p.Asn58Lys)
n.574C>A
c.51C>A (p.Asn17Lys)
c.201C>A (p.Asn67Lys)
7g.150959693_150959696delinsGTTCCA1752420061KCNH2n.1181_1184delinsGAAC
c.348_351delinsGAAC (p.Lys116=)
c.171_174delinsGAAC (p.Lys57=)
n.571_574delinsGAAC
c.48_51delinsGAAC (p.Lys16=)
c.198_201delinsGAAC (p.Lys66=)
7g.150959694T>ACA369863845KCNH2n.1183A>T
c.350A>T (p.Asn117Ile)
c.173A>T (p.Asn58Ile)
n.573A>T
c.50A>T (p.Asn17Ile)
c.200A>T (p.Asn67Ile)
7g.150959694T>CCA369863843KCNH2n.1183A>G
c.350A>G (p.Asn117Ser)
c.173A>G (p.Asn58Ser)
n.573A>G
c.50A>G (p.Asn17Ser)
c.200A>G (p.Asn67Ser)
7g.150959694T>GCA369863844KCNH2n.1183A>C
c.350A>C (p.Asn117Thr)
c.173A>C (p.Asn58Thr)
n.573A>C
c.50A>C (p.Asn17Thr)
c.200A>C (p.Asn67Thr)
7g.150959697_150959699delCA349833KCNH2n.1181_1183del
c.348_350del (p.Lys116del)
c.171_173del (p.Lys57del)
n.571_573del
c.48_50del (p.Lys16del)
c.198_200del (p.Lys66del)
 ClinVar dbSNP
7g.150959695T>ACA369863846KCNH2n.1182A>T
c.349A>T (p.Asn117Tyr)
c.172A>T (p.Asn58Tyr)
n.572A>T
c.49A>T (p.Asn17Tyr)
c.199A>T (p.Asn67Tyr)
7g.150959695T>CCA369863847KCNH2n.1182A>G
c.349A>G (p.Asn117Asp)
c.172A>G (p.Asn58Asp)
n.572A>G
c.49A>G (p.Asn17Asp)
c.199A>G (p.Asn67Asp)
7g.150959695T>GCA369863848KCNH2n.1182A>C
c.349A>C (p.Asn117His)
c.172A>C (p.Asn58His)
n.572A>C
c.49A>C (p.Asn17His)
c.199A>C (p.Asn67His)
7g.150959696C>ACA369863849KCNH2n.1181G>T
c.348G>T (p.Lys116Asn)
c.171G>T (p.Lys57Asn)
n.571G>T
c.48G>T (p.Lys16Asn)
c.198G>T (p.Lys66Asn)
7g.150959696C=CA1752420065KCNH2n.1181G=
c.348G= (p.Lys116=)
c.171G= (p.Lys57=)
n.571G=
c.48G= (p.Lys16=)
c.198G= (p.Lys66=)
7g.150959696C>GCA369863850KCNH2n.1181G>C
c.348G>C (p.Lys116Asn)
c.171G>C (p.Lys57Asn)
n.571G>C
c.48G>C (p.Lys16Asn)
c.198G>C (p.Lys66Asn)
7g.150959696C>TCA458646951KCNH2n.1181G>A
c.348G>A (p.Lys116=)
c.171G>A (p.Lys57=)
n.571G>A
c.48G>A (p.Lys16=)
c.198G>A (p.Lys66=)
 dbSNP
7g.150959697T>ACA369863851KCNH2n.1180A>T
c.347A>T (p.Lys116Met)
c.170A>T (p.Lys57Met)
n.570A>T
c.47A>T (p.Lys16Met)
c.197A>T (p.Lys66Met)
7g.150959697T>CCA369863852KCNH2n.1180A>G
c.347A>G (p.Lys116Arg)
c.170A>G (p.Lys57Arg)
n.570A>G
c.47A>G (p.Lys16Arg)
c.197A>G (p.Lys66Arg)
7g.150959697T>GCA369863853KCNH2n.1180A>C
c.347A>C (p.Lys116Thr)
c.170A>C (p.Lys57Thr)
n.570A>C
c.47A>C (p.Lys16Thr)
c.197A>C (p.Lys66Thr)
7g.150959698T>ACA369863854KCNH2n.1179A>T
c.346A>T (p.Lys116Ter)
c.169A>T (p.Lys57Ter)
n.569A>T
c.46A>T (p.Lys16Ter)
c.196A>T (p.Lys66Ter)
7g.150959698T>CCA369863855KCNH2n.1179A>G
c.346A>G (p.Lys116Glu)
c.169A>G (p.Lys57Glu)
n.569A>G
c.46A>G (p.Lys16Glu)
c.196A>G (p.Lys66Glu)
7g.150959698T>GCA369863856KCNH2n.1179A>C
c.346A>C (p.Lys116Gln)
c.169A>C (p.Lys57Gln)
n.569A>C
c.46A>C (p.Lys16Gln)
c.196A>C (p.Lys66Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150959698T=CA1752420067KCNH2n.1179A=
c.346A= (p.Lys116=)
c.169A= (p.Lys57=)
n.569A=
c.46A= (p.Lys16=)
c.196A= (p.Lys66=)
7g.150959699C>ACA458646957KCNH2n.1178G>T
c.345G>T (p.Val115=)
c.168G>T (p.Val56=)
n.568G>T
c.45G>T (p.Val15=)
c.195G>T (p.Val65=)
7g.150959699C>GCA458646954KCNH2n.1178G>C
c.345G>C (p.Val115=)
c.168G>C (p.Val56=)
n.568G>C
c.45G>C (p.Val15=)
c.195G>C (p.Val65=)
7g.150959699C>TCA458646956KCNH2n.1178G>A
c.345G>A (p.Val115=)
c.168G>A (p.Val56=)
n.568G>A
c.45G>A (p.Val15=)
c.195G>A (p.Val65=)
7g.150959700A=CA1752420070KCNH2n.1177T=
c.344T= (p.Val115=)
c.167T= (p.Val56=)
n.567T=
c.44T= (p.Val15=)
c.194T= (p.Val65=)
7g.150959700A>CCA008322KCNH2n.1177T>G
c.344T>G (p.Val115Gly)
c.167T>G (p.Val56Gly)
n.567T>G
c.44T>G (p.Val15Gly)
c.194T>G (p.Val65Gly)
 ClinVar dbSNP
7g.150959700A>GCA369863857KCNH2n.1177T>C
c.344T>C (p.Val115Ala)
c.167T>C (p.Val56Ala)
n.567T>C
c.44T>C (p.Val15Ala)
c.194T>C (p.Val65Ala)
7g.150959700A>TCA369863858KCNH2n.1177T>A
c.344T>A (p.Val115Glu)
c.167T>A (p.Val56Glu)
n.567T>A
c.44T>A (p.Val15Glu)
c.194T>A (p.Val65Glu)
7g.150959701C>ACA369863859KCNH2n.1176G>T
c.343G>T (p.Val115Leu)
c.166G>T (p.Val56Leu)
n.566G>T
c.43G>T (p.Val15Leu)
c.193G>T (p.Val65Leu)
7g.150959701C=CA1752420075KCNH2n.1176G=
c.343G= (p.Val115=)
c.166G= (p.Val56=)
n.566G=
c.43G= (p.Val15=)
c.193G= (p.Val65=)
7g.150959701C>GCA369863860KCNH2n.1176G>C
c.343G>C (p.Val115Leu)
c.166G>C (p.Val56Leu)
n.566G>C
c.43G>C (p.Val15Leu)
c.193G>C (p.Val65Leu)
7g.150959701C>TCA008314KCNH2n.1176G>A
c.343G>A (p.Val115Met)
c.166G>A (p.Val56Met)
n.566G>A
c.43G>A (p.Val15Met)
c.193G>A (p.Val65Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150959702G>ACA008300KCNH2n.1175C>T
c.342C>T (p.Pro114=)
c.165C>T (p.Pro55=)
n.565C>T
c.42C>T (p.Pro14=)
c.192C>T (p.Pro64=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959702G>CCA458646958KCNH2n.1175C>G
c.342C>G (p.Pro114=)
c.165C>G (p.Pro55=)
n.565C>G
c.42C>G (p.Pro14=)
c.192C>G (p.Pro64=)
7g.150959702G=CA1752420081KCNH2n.1175C=
c.342C= (p.Pro114=)
c.165C= (p.Pro55=)
n.565C=
c.42C= (p.Pro14=)
c.192C= (p.Pro64=)
7g.150959702G>TCA458646959KCNH2n.1175C>A
c.342C>A (p.Pro114=)
c.165C>A (p.Pro55=)
n.565C>A
c.42C>A (p.Pro14=)
c.192C>A (p.Pro64=)
 gnomAD v4
7g.150959703G>ACA369863861KCNH2n.1174C>T
c.341C>T (p.Pro114Leu)
c.164C>T (p.Pro55Leu)
n.564C>T
c.41C>T (p.Pro14Leu)
c.191C>T (p.Pro64Leu)
7g.150959703G>CCA008293KCNH2n.1174C>G
c.341C>G (p.Pro114Arg)
c.164C>G (p.Pro55Arg)
n.564C>G
c.41C>G (p.Pro14Arg)
c.191C>G (p.Pro64Arg)
 dbSNP gnomAD v4
7g.150959703G=CA1752420085KCNH2n.1174C=
c.341C= (p.Pro114=)
c.164C= (p.Pro55=)
n.564C=
c.41C= (p.Pro14=)
c.191C= (p.Pro64=)
7g.150959703G>TCA369863862KCNH2n.1174C>A
c.341C>A (p.Pro114His)
c.164C>A (p.Pro55His)
n.564C>A
c.41C>A (p.Pro14His)
c.191C>A (p.Pro64His)
7g.150959704G>ACA008285KCNH2n.1173C>T
c.340C>T (p.Pro114Ser)
c.163C>T (p.Pro55Ser)
n.563C>T
c.40C>T (p.Pro14Ser)
c.190C>T (p.Pro64Ser)
 ClinVar dbSNP
7g.150959704G>CCA369863864KCNH2n.1173C>G
c.340C>G (p.Pro114Ala)
c.163C>G (p.Pro55Ala)
n.563C>G
c.40C>G (p.Pro14Ala)
c.190C>G (p.Pro64Ala)
7g.150959704G=CA1752420091KCNH2n.1173C=
c.340C= (p.Pro114=)
c.163C= (p.Pro55=)
n.563C=
c.40C= (p.Pro14=)
c.190C= (p.Pro64=)
7g.150959704G>TCA369863863KCNH2n.1173C>A
c.340C>A (p.Pro114Thr)
c.163C>A (p.Pro55Thr)
n.563C>A
c.40C>A (p.Pro14Thr)
c.190C>A (p.Pro64Thr)
7g.150959705C>ACA458646967KCNH2n.1172G>T
c.339G>T (p.Val113=)
c.162G>T (p.Val54=)
n.562G>T
c.39G>T (p.Val13=)
c.189G>T (p.Val63=)
7g.150959705C=CA1752420094KCNH2n.1172G=
c.339G= (p.Val113=)
c.162G= (p.Val54=)
n.562G=
c.39G= (p.Val13=)
c.189G= (p.Val63=)
7g.150959705C>GCA458646970KCNH2n.1172G>C
c.339G>C (p.Val113=)
c.162G>C (p.Val54=)
n.562G>C
c.39G>C (p.Val13=)
c.189G>C (p.Val63=)
7g.150959705C>TCA038920KCNH2n.1172G>A
c.339G>A (p.Val113=)
c.162G>A (p.Val54=)
n.562G>A
c.39G>A (p.Val13=)
c.189G>A (p.Val63=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150959708_150959710delCA658761344KCNH2n.1170_1172del
c.337_339del (p.Val113del)
c.160_162del (p.Val54del)
n.560_562del
c.37_39del (p.Val13del)
c.187_189del (p.Val63del)
7g.150959706A=CA1752420096KCNH2n.1171T=
c.338T= (p.Val113=)
c.161T= (p.Val54=)
n.561T=
c.38T= (p.Val13=)
c.188T= (p.Val63=)
7g.150959706A>CCA369863865KCNH2n.1171T>G
c.338T>G (p.Val113Gly)
c.161T>G (p.Val54Gly)
n.561T>G
c.38T>G (p.Val13Gly)
c.188T>G (p.Val63Gly)
 dbSNP
7g.150959706A>GCA369863866KCNH2n.1171T>C
c.338T>C (p.Val113Ala)
c.161T>C (p.Val54Ala)
n.561T>C
c.38T>C (p.Val13Ala)
c.188T>C (p.Val63Ala)
7g.150959706A>TCA369863867KCNH2n.1171T>A
c.338T>A (p.Val113Glu)
c.161T>A (p.Val54Glu)
n.561T>A
c.38T>A (p.Val13Glu)
c.188T>A (p.Val63Glu)
7g.150959707C>ACA369863868KCNH2n.1170G>T
c.337G>T (p.Val113Leu)
c.160G>T (p.Val54Leu)
n.560G>T
c.37G>T (p.Val13Leu)
c.187G>T (p.Val63Leu)
7g.150959707C>GCA369863870KCNH2n.1170G>C
c.337G>C (p.Val113Leu)
c.160G>C (p.Val54Leu)
n.560G>C
c.37G>C (p.Val13Leu)
c.187G>C (p.Val63Leu)
7g.150959707C>TCA369863869KCNH2n.1170G>A
c.337G>A (p.Val113Met)
c.160G>A (p.Val54Met)
n.560G>A
c.37G>A (p.Val13Met)
c.187G>A (p.Val63Met)
7g.150959708_150959714dupCA16618416KCNH2n.1164_1170dup
c.331_337dup (p.Val113GlyfsTer?)
c.154_160dup (p.Val54GlyfsTer?)
n.554_560dup
c.31_37dup (p.Val13GlyfsTer?)
c.181_187dup (p.Val63GlyfsTer?)
 ClinVar dbSNP
7g.150959708C>ACA458646972KCNH2n.1169G>T
c.336G>T (p.Val112=)
c.159G>T (p.Val53=)
n.559G>T
c.36G>T (p.Val12=)
c.186G>T (p.Val62=)
7g.150959708C>GCA458646973KCNH2n.1169G>C
c.336G>C (p.Val112=)
c.159G>C (p.Val53=)
n.559G>C
c.36G>C (p.Val12=)
c.186G>C (p.Val62=)
7g.150959708C>TCA458646974KCNH2n.1169G>A
c.336G>A (p.Val112=)
c.159G>A (p.Val53=)
n.559G>A
c.36G>A (p.Val12=)
c.186G>A (p.Val62=)
7g.150959709A>CCA369863871KCNH2n.1168T>G
c.335T>G (p.Val112Gly)
c.158T>G (p.Val53Gly)
n.558T>G
c.35T>G (p.Val12Gly)
c.185T>G (p.Val62Gly)
7g.150959709A>GCA369863872KCNH2n.1168T>C
c.335T>C (p.Val112Ala)
c.158T>C (p.Val53Ala)
n.558T>C
c.35T>C (p.Val12Ala)
c.185T>C (p.Val62Ala)
7g.150959709A>TCA369863873KCNH2n.1168T>A
c.335T>A (p.Val112Glu)
c.158T>A (p.Val53Glu)
n.558T>A
c.35T>A (p.Val12Glu)
c.185T>A (p.Val62Glu)
7g.150959710C>ACA369863874KCNH2n.1167G>T
c.334G>T (p.Val112Leu)
c.157G>T (p.Val53Leu)
n.557G>T
c.34G>T (p.Val12Leu)
c.184G>T (p.Val62Leu)
7g.150959710C=CA1752420103KCNH2n.1167G=
c.334G= (p.Val112=)
c.157G= (p.Val53=)
n.557G=
c.34G= (p.Val12=)
c.184G= (p.Val62=)
7g.150959710C>GCA369863875KCNH2n.1167G>C
c.334G>C (p.Val112Leu)
c.157G>C (p.Val53Leu)
n.557G>C
c.34G>C (p.Val12Leu)
c.184G>C (p.Val62Leu)
7g.150959710C>TCA038790KCNH2n.1167G>A
c.334G>A (p.Val112Met)
c.157G>A (p.Val53Met)
n.557G>A
c.34G>A (p.Val12Met)
c.184G>A (p.Val62Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150959711A>CCA369863876KCNH2n.1166T>G
c.333T>G (p.Asp111Glu)
c.156T>G (p.Asp52Glu)
n.556T>G
c.33T>G (p.Asp11Glu)
c.183T>G (p.Asp61Glu)
7g.150959711A>GCA458646978KCNH2n.1166T>C
c.333T>C (p.Asp111=)
c.156T>C (p.Asp52=)
n.556T>C
c.33T>C (p.Asp11=)
c.183T>C (p.Asp61=)
7g.150959711A>TCA369863877KCNH2n.1166T>A
c.333T>A (p.Asp111Glu)
c.156T>A (p.Asp52Glu)
n.556T>A
c.33T>A (p.Asp11Glu)
c.183T>A (p.Asp61Glu)
7g.150959712T>ACA008196KCNH2n.1165A>T
c.332A>T (p.Asp111Val)
c.155A>T (p.Asp52Val)
n.555A>T
c.32A>T (p.Asp11Val)
c.182A>T (p.Asp61Val)
 ClinVar dbSNP
7g.150959712T>CCA369863878KCNH2n.1165A>G
c.332A>G (p.Asp111Gly)
c.155A>G (p.Asp52Gly)
n.555A>G
c.32A>G (p.Asp11Gly)
c.182A>G (p.Asp61Gly)
7g.150959712T>GCA369863879KCNH2n.1165A>C
c.332A>C (p.Asp111Ala)
c.155A>C (p.Asp52Ala)
n.555A>C
c.32A>C (p.Asp11Ala)
c.182A>C (p.Asp61Ala)
7g.150959712T=CA1752420107KCNH2n.1165A=
c.332A= (p.Asp111=)
c.155A= (p.Asp52=)
n.555A=
c.32A= (p.Asp11=)
c.182A= (p.Asp61=)
7g.150959713C>ACA369863880KCNH2n.1164G>T
c.331G>T (p.Asp111Tyr)
c.154G>T (p.Asp52Tyr)
n.554G>T
c.31G>T (p.Asp11Tyr)
c.181G>T (p.Asp61Tyr)
7g.150959713C=CA1752420111KCNH2n.1164G=
c.331G= (p.Asp111=)
c.154G= (p.Asp52=)
n.554G=
c.31G= (p.Asp11=)
c.181G= (p.Asp61=)
7g.150959713C>GCA369863882KCNH2n.1164G>C
c.331G>C (p.Asp111His)
c.154G>C (p.Asp52His)
n.554G>C
c.31G>C (p.Asp11His)
c.181G>C (p.Asp61His)
7g.150959713C>TCA369863881KCNH2n.1164G>A
c.331G>A (p.Asp111Asn)
c.154G>A (p.Asp52Asn)
n.554G>A
c.31G>A (p.Asp11Asn)
c.181G>A (p.Asp61Asn)
 ClinVar dbSNP
7g.150959714C>ACA458646979KCNH2n.1163G>T
c.330G>T (p.Val110=)
c.153G>T (p.Val51=)
n.553G>T
c.30G>T (p.Val10=)
c.180G>T (p.Val60=)
7g.150959714C>GCA458646980KCNH2n.1163G>C
c.330G>C (p.Val110=)
c.153G>C (p.Val51=)
n.553G>C
c.30G>C (p.Val10=)
c.180G>C (p.Val60=)
7g.150959714C>TCA458646981KCNH2n.1163G>A
c.330G>A (p.Val110=)
c.153G>A (p.Val51=)
n.553G>A
c.30G>A (p.Val10=)
c.180G>A (p.Val60=)
7g.150959715A>CCA369863883KCNH2n.1162T>G
c.329T>G (p.Val110Gly)
c.152T>G (p.Val51Gly)
n.552T>G
c.29T>G (p.Val10Gly)
c.179T>G (p.Val60Gly)
7g.150959715A>GCA369863885KCNH2n.1162T>C
c.329T>C (p.Val110Ala)
c.152T>C (p.Val51Ala)
n.552T>C
c.29T>C (p.Val10Ala)
c.179T>C (p.Val60Ala)
7g.150959715A>TCA369863884KCNH2n.1162T>A
c.329T>A (p.Val110Glu)
c.152T>A (p.Val51Glu)
n.552T>A
c.29T>A (p.Val10Glu)
c.179T>A (p.Val60Glu)
7g.150959716C>ACA369863886KCNH2n.1161G>T
c.328G>T (p.Val110Leu)
c.151G>T (p.Val51Leu)
n.551G>T
c.28G>T (p.Val10Leu)
c.178G>T (p.Val60Leu)
7g.150959716C>GCA369863888KCNH2n.1161G>C
c.328G>C (p.Val110Leu)
c.151G>C (p.Val51Leu)
n.551G>C
c.28G>C (p.Val10Leu)
c.178G>C (p.Val60Leu)
7g.150959716C>TCA369863887KCNH2n.1161G>A
c.328G>A (p.Val110Met)
c.151G>A (p.Val51Met)
n.551G>A
c.28G>A (p.Val10Met)
c.178G>A (p.Val60Met)
 ClinVar
7g.150959717C>ACA458646985KCNH2n.1160G>T
c.327G>T (p.Leu109=)
c.150G>T (p.Leu50=)
n.550G>T
c.27G>T (p.Leu9=)
c.177G>T (p.Leu59=)
7g.150959717C>GCA458646986KCNH2n.1160G>C
c.327G>C (p.Leu109=)
c.150G>C (p.Leu50=)
n.550G>C
c.27G>C (p.Leu9=)
c.177G>C (p.Leu59=)
7g.150959717C>TCA458646987KCNH2n.1160G>A
c.327G>A (p.Leu109=)
c.150G>A (p.Leu50=)
n.550G>A
c.27G>A (p.Leu9=)
c.177G>A (p.Leu59=)
 ClinVar gnomAD v4 COSMIC COSMIC
7g.150959718A=CA1752420115KCNH2n.1159T=
c.326T= (p.Leu109=)
c.149T= (p.Leu50=)
n.549T=
c.26T= (p.Leu9=)
c.176T= (p.Leu59=)
7g.150959718A>CCA008149KCNH2n.1159T>G
c.326T>G (p.Leu109Arg)
c.149T>G (p.Leu50Arg)
n.549T>G
c.26T>G (p.Leu9Arg)
c.176T>G (p.Leu59Arg)
 ClinVar dbSNP
7g.150959718A>GCA369863889KCNH2n.1159T>C
c.326T>C (p.Leu109Pro)
c.149T>C (p.Leu50Pro)
n.549T>C
c.26T>C (p.Leu9Pro)
c.176T>C (p.Leu59Pro)
7g.150959718A>TCA369863890KCNH2n.1159T>A
c.326T>A (p.Leu109Gln)
c.149T>A (p.Leu50Gln)
n.549T>A
c.26T>A (p.Leu9Gln)
c.176T>A (p.Leu59Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150959719G>ACA458646988KCNH2n.1158C>T
c.325C>T (p.Leu109=)
c.148C>T (p.Leu50=)
n.548C>T
c.25C>T (p.Leu9=)
c.175C>T (p.Leu59=)
7g.150959719G>CCA369863891KCNH2n.1158C>G
c.325C>G (p.Leu109Val)
c.148C>G (p.Leu50Val)
n.548C>G
c.25C>G (p.Leu9Val)
c.175C>G (p.Leu59Val)
7g.150959719G>TCA369863892KCNH2n.1158C>A
c.325C>A (p.Leu109Met)
c.148C>A (p.Leu50Met)
n.548C>A
c.25C>A (p.Leu9Met)
c.175C>A (p.Leu59Met)
7g.150959720A>CCA369863893KCNH2n.1157T>G
c.324T>G (p.Cys108Trp)
c.147T>G (p.Cys49Trp)
n.547T>G
c.24T>G (p.Cys8Trp)
c.174T>G (p.Cys58Trp)
7g.150959720A>GCA458646991KCNH2n.1157T>C
c.324T>C (p.Cys108=)
c.147T>C (p.Cys49=)
n.547T>C
c.24T>C (p.Cys8=)
c.174T>C (p.Cys58=)
7g.150959720A>TCA369863894KCNH2n.1157T>A
c.324T>A (p.Cys108Ter)
c.147T>A (p.Cys49Ter)
n.547T>A
c.24T>A (p.Cys8Ter)
c.174T>A (p.Cys58Ter)
7g.150959721C>ACA369863895KCNH2n.1156G>T
c.323G>T (p.Cys108Phe)
c.146G>T (p.Cys49Phe)
n.546G>T
c.23G>T (p.Cys8Phe)
c.173G>T (p.Cys58Phe)
7g.150959721C>GCA369863896KCNH2n.1156G>C
c.323G>C (p.Cys108Ser)
c.146G>C (p.Cys49Ser)
n.546G>C
c.23G>C (p.Cys8Ser)
c.173G>C (p.Cys58Ser)
7g.150959721C>TCA369863897KCNH2n.1156G>A
c.323G>A (p.Cys108Tyr)
c.146G>A (p.Cys49Tyr)
n.546G>A
c.23G>A (p.Cys8Tyr)
c.173G>A (p.Cys58Tyr)
 ClinVar dbSNP
7g.150959722A=CA1752420119KCNH2n.1155T=
c.322T= (p.Cys108=)
c.145T= (p.Cys49=)
n.545T=
c.22T= (p.Cys8=)
c.172T= (p.Cys58=)
7g.150959722A>CCA369863899KCNH2n.1155T>G
c.322T>G (p.Cys108Gly)
c.145T>G (p.Cys49Gly)
n.545T>G
c.22T>G (p.Cys8Gly)
c.172T>G (p.Cys58Gly)
7g.150959722A>GCA008126KCNH2n.1155T>C
c.322T>C (p.Cys108Arg)
c.145T>C (p.Cys49Arg)
n.545T>C
c.22T>C (p.Cys8Arg)
c.172T>C (p.Cys58Arg)
 ClinVar dbSNP
7g.150959722A>TCA369863898KCNH2n.1155T>A
c.322T>A (p.Cys108Ser)
c.145T>A (p.Cys49Ser)
n.545T>A
c.22T>A (p.Cys8Ser)
c.172T>A (p.Cys58Ser)
7g.150959723_150959724delCA2695208669KCNH2n.1154_1155del
c.321_322del (p.Cys108SerfsTer?)
c.144_145del (p.Cys49SerfsTer?)
n.544_545del
c.21_22del (p.Cys8SerfsTer?)
c.171_172del (p.Cys58SerfsTer?)
7g.150959723T>ACA458646993KCNH2n.1154A>T
c.321A>T (p.Leu107=)
c.144A>T (p.Leu48=)
n.544A>T
c.21A>T (p.Leu7=)
c.171A>T (p.Leu57=)
7g.150959723T>CCA458646994KCNH2n.1154A>G
c.321A>G (p.Leu107=)
c.144A>G (p.Leu48=)
n.544A>G
c.21A>G (p.Leu7=)
c.171A>G (p.Leu57=)
 dbSNP
7g.150959723T>GCA458646995KCNH2n.1154A>C
c.321A>C (p.Leu107=)
c.144A>C (p.Leu48=)
n.544A>C
c.21A>C (p.Leu7=)
c.171A>C (p.Leu57=)
7g.150959723T=CA1752420121KCNH2n.1154A=
c.321A= (p.Leu107=)
c.144A= (p.Leu48=)
n.544A=
c.21A= (p.Leu7=)
c.171A= (p.Leu57=)
7g.150959724A=CA1752420123KCNH2n.1153T=
c.320T= (p.Leu107=)
c.143T= (p.Leu48=)
n.543T=
c.20T= (p.Leu7=)
c.170T= (p.Leu57=)
7g.150959724A>CCA369863900KCNH2n.1153T>G
c.320T>G (p.Leu107Arg)
c.143T>G (p.Leu48Arg)
n.543T>G
c.20T>G (p.Leu7Arg)
c.170T>G (p.Leu57Arg)
7g.150959724A>GCA369863901KCNH2n.1153T>C
c.320T>C (p.Leu107Pro)
c.143T>C (p.Leu48Pro)
n.543T>C
c.20T>C (p.Leu7Pro)
c.170T>C (p.Leu57Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150959724A>TCA369863902KCNH2n.1153T>A
c.320T>A (p.Leu107Gln)
c.143T>A (p.Leu48Gln)
n.543T>A
c.20T>A (p.Leu7Gln)
c.170T>A (p.Leu57Gln)
7g.150959725G>ACA037838KCNH2n.1152C>T
c.319C>T (p.Leu107=)
c.142C>T (p.Leu48=)
n.542C>T
c.19C>T (p.Leu7=)
c.169C>T (p.Leu57=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150959725G>CCA369863903KCNH2n.1152C>G
c.319C>G (p.Leu107Val)
c.142C>G (p.Leu48Val)
n.542C>G
c.19C>G (p.Leu7Val)
c.169C>G (p.Leu57Val)
7g.150959725G=CA1752420126KCNH2n.1152C=
c.319C= (p.Leu107=)
c.142C= (p.Leu48=)
n.542C=
c.19C= (p.Leu7=)
c.169C= (p.Leu57=)
7g.150959725G>TCA369863904KCNH2n.1152C>A
c.319C>A (p.Leu107Ile)
c.142C>A (p.Leu48Ile)
n.542C>A
c.19C>A (p.Leu7Ile)
c.169C>A (p.Leu57Ile)
7g.150959726G>ACA458646997KCNH2n.1151C>T
c.318C>T (p.Phe106=)
c.141C>T (p.Phe47=)
n.541C>T
c.18C>T (p.Phe6=)
c.168C>T (p.Phe56=)
7g.150959726G>CCA369863905KCNH2n.1151C>G
c.318C>G (p.Phe106Leu)
c.141C>G (p.Phe47Leu)
n.541C>G
c.18C>G (p.Phe6Leu)
c.168C>G (p.Phe56Leu)
7g.150959726G=CA1752420130KCNH2n.1151C=
c.318C= (p.Phe106=)
c.141C= (p.Phe47=)
n.541C=
c.18C= (p.Phe6=)
c.168C= (p.Phe56=)
7g.150959726G>TCA008086KCNH2n.1151C>A
c.318C>A (p.Phe106Leu)
c.141C>A (p.Phe47Leu)
n.541C>A
c.18C>A (p.Phe6Leu)
c.168C>A (p.Phe56Leu)
 ClinVar dbSNP
7g.150959727A=CA1752420133KCNH2n.1150T=
c.317T= (p.Phe106=)
c.140T= (p.Phe47=)
n.540T=
c.17T= (p.Phe6=)
c.167T= (p.Phe56=)
7g.150959727A>CCA369863906KCNH2n.1150T>G
c.317T>G (p.Phe106Cys)
c.140T>G (p.Phe47Cys)
n.540T>G
c.17T>G (p.Phe6Cys)
c.167T>G (p.Phe56Cys)
7g.150959727A>GCA369863907KCNH2n.1150T>C
c.317T>C (p.Phe106Ser)
c.140T>C (p.Phe47Ser)
n.540T>C
c.17T>C (p.Phe6Ser)
c.167T>C (p.Phe56Ser)
7g.150959727A>TCA008078KCNH2n.1150T>A
c.317T>A (p.Phe106Tyr)
c.140T>A (p.Phe47Tyr)
n.540T>A
c.17T>A (p.Phe6Tyr)
c.167T>A (p.Phe56Tyr)
 ClinVar dbSNP
7g.150959728A>CCA369863909KCNH2n.1149T>G
c.316T>G (p.Phe106Val)
c.139T>G (p.Phe47Val)
n.539T>G
c.16T>G (p.Phe6Val)
c.166T>G (p.Phe56Val)
7g.150959728A>GCA369863910KCNH2n.1149T>C
c.316T>C (p.Phe106Leu)
c.139T>C (p.Phe47Leu)
n.539T>C
c.16T>C (p.Phe6Leu)
c.166T>C (p.Phe56Leu)
7g.150959728A>TCA369863908KCNH2n.1149T>A
c.316T>A (p.Phe106Ile)
c.139T>A (p.Phe47Ile)
n.539T>A
c.16T>A (p.Phe6Ile)
c.166T>A (p.Phe56Ile)
7g.150959729G>ACA037631KCNH2n.1148C>T
c.315C>T (p.Cys105=)
c.138C>T (p.Cys46=)
n.538C>T
c.15C>T (p.Cys5=)
c.165C>T (p.Cys55=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150959729G>CCA070553KCNH2n.1148C>G
c.315C>G (p.Cys105Trp)
c.138C>G (p.Cys46Trp)
n.538C>G
c.15C>G (p.Cys5Trp)
c.165C>G (p.Cys55Trp)
7g.150959729G=CA1752420137KCNH2n.1148C=
c.315C= (p.Cys105=)
c.138C= (p.Cys46=)
n.538C=
c.15C= (p.Cys5=)
c.165C= (p.Cys55=)
7g.150959729G>TCA369863911KCNH2n.1148C>A
c.315C>A (p.Cys105Ter)
c.138C>A (p.Cys46Ter)
n.538C>A
c.15C>A (p.Cys5Ter)
c.165C>A (p.Cys55Ter)
7g.150959730C>ACA369863912KCNH2n.1147G>T
c.314G>T (p.Cys105Phe)
c.137G>T (p.Cys46Phe)
n.537G>T
c.14G>T (p.Cys5Phe)
c.164G>T (p.Cys55Phe)
 gnomAD v4
7g.150959730C=CA1752420140KCNH2n.1147G=
c.314G= (p.Cys105=)
c.137G= (p.Cys46=)
n.537G=
c.14G= (p.Cys5=)
c.164G= (p.Cys55=)
7g.150959730C>GCA369863913KCNH2n.1147G>C
c.314G>C (p.Cys105Ser)
c.137G>C (p.Cys46Ser)
n.537G>C
c.14G>C (p.Cys5Ser)
c.164G>C (p.Cys55Ser)
7g.150959730C>TCA169082284KCNH2n.1147G>A
c.314G>A (p.Cys105Tyr)
c.137G>A (p.Cys46Tyr)
n.537G>A
c.14G>A (p.Cys5Tyr)
c.164G>A (p.Cys55Tyr)
 ClinVar dbSNP
7g.150959731A>CCA369863914KCNH2n.1146T>G
c.313T>G (p.Cys105Gly)
c.136T>G (p.Cys46Gly)
n.536T>G
c.13T>G (p.Cys5Gly)
c.163T>G (p.Cys55Gly)
7g.150959731A>GCA369863916KCNH2n.1146T>C
c.313T>C (p.Cys105Arg)
c.136T>C (p.Cys46Arg)
n.536T>C
c.13T>C (p.Cys5Arg)
c.163T>C (p.Cys55Arg)
7g.150959731A>TCA369863917KCNH2n.1146T>A
c.313T>A (p.Cys105Ser)
c.136T>A (p.Cys46Ser)
n.536T>A
c.13T>A (p.Cys5Ser)
c.163T>A (p.Cys55Ser)
7g.150959732G>ACA458647001KCNH2n.1145C>T
c.312C>T (p.Ser104=)
c.135C>T (p.Ser45=)
n.535C>T
c.12C>T (p.Ser4=)
c.162C>T (p.Ser54=)
 dbSNP gnomAD v3 gnomAD v4
7g.150959732G>CCA369863920KCNH2n.1145C>G
c.312C>G (p.Ser104Arg)
c.135C>G (p.Ser45Arg)
n.535C>G
c.12C>G (p.Ser4Arg)
c.162C>G (p.Ser54Arg)
 ClinVar dbSNP gnomAD v4
7g.150959732G=CA1752420143KCNH2n.1145C=
c.312C= (p.Ser104=)
c.135C= (p.Ser45=)
n.535C=
c.12C= (p.Ser4=)
c.162C= (p.Ser54=)
7g.150959732G>TCA369863921KCNH2n.1145C>A
c.312C>A (p.Ser104Arg)
c.135C>A (p.Ser45Arg)
n.535C>A
c.12C>A (p.Ser4Arg)
c.162C>A (p.Ser54Arg)
7g.150959733C>ACA369863925KCNH2n.1144G>T
c.311G>T (p.Ser104Ile)
c.134G>T (p.Ser45Ile)
n.534G>T
c.11G>T (p.Ser4Ile)
c.161G>T (p.Ser54Ile)
7g.150959733C>GCA369863927KCNH2n.1144G>C
c.311G>C (p.Ser104Thr)
c.134G>C (p.Ser45Thr)
n.534G>C
c.11G>C (p.Ser4Thr)
c.161G>C (p.Ser54Thr)
7g.150959733C>TCA369863923KCNH2n.1144G>A
c.311G>A (p.Ser104Asn)
c.134G>A (p.Ser45Asn)
n.534G>A
c.11G>A (p.Ser4Asn)
c.161G>A (p.Ser54Asn)
7g.150959734T>ACA369863928KCNH2n.1143A>T
c.310A>T (p.Ser104Cys)
c.133A>T (p.Ser45Cys)
n.533A>T
c.10A>T (p.Ser4Cys)
c.160A>T (p.Ser54Cys)
7g.150959734T>CCA369863929KCNH2n.1143A>G
c.310A>G (p.Ser104Gly)
c.133A>G (p.Ser45Gly)
n.533A>G
c.10A>G (p.Ser4Gly)
c.160A>G (p.Ser54Gly)
7g.150959734T>GCA369863931KCNH2n.1143A>C
c.310A>C (p.Ser104Arg)
c.133A>C (p.Ser45Arg)
n.533A>C
c.10A>C (p.Ser4Arg)
c.160A>C (p.Ser54Arg)
7g.150959735C>ACA458647003KCNH2n.1142G>T
c.309G>T (p.Gly103=)
c.132G>T (p.Gly44=)
n.532G>T
c.9G>T (p.Gly3=)
c.159G>T (p.Gly53=)
7g.150959735C>GCA458647004KCNH2n.1142G>C
c.309G>C (p.Gly103=)
c.132G>C (p.Gly44=)
n.532G>C
c.9G>C (p.Gly3=)
c.159G>C (p.Gly53=)
7g.150959735C>TCA458647005KCNH2n.1142G>A
c.309G>A (p.Gly103=)
c.132G>A (p.Gly44=)
n.532G>A
c.9G>A (p.Gly3=)
c.159G>A (p.Gly53=)
7g.150959736C>ACA369863933KCNH2n.1141G>T
c.308G>T (p.Gly103Val)
c.131G>T (p.Gly44Val)
n.531G>T
c.8G>T (p.Gly3Val)
c.158G>T (p.Gly53Val)
7g.150959736C>GCA369863934KCNH2n.1141G>C
c.308G>C (p.Gly103Ala)
c.131G>C (p.Gly44Ala)
n.531G>C
c.8G>C (p.Gly3Ala)
c.158G>C (p.Gly53Ala)
 gnomAD v4
7g.150959736C>TCA369863936KCNH2n.1141G>A
c.308G>A (p.Gly103Glu)
c.131G>A (p.Gly44Glu)
n.531G>A
c.8G>A (p.Gly3Glu)
c.158G>A (p.Gly53Glu)
 COSMIC COSMIC
7g.150959737C>ACA369863938KCNH2n.1140G>T
c.308-1G>T (n.308-1G>T)
c.131-1G>T (n.131-1G>T)
n.531-1G>T
c.8-1G>T (n.8-1G>T)
c.158-1G>T (n.158-1G>T)
7g.150959737C>GCA369863941KCNH2n.1140G>C
c.308-1G>C (n.308-1G>C)
c.131-1G>C (n.131-1G>C)
n.531-1G>C
c.8-1G>C (n.8-1G>C)
c.158-1G>C (n.158-1G>C)
7g.150959737C>TCA369863939KCNH2n.1140G>A
c.308-1G>A (n.308-1G>A)
c.131-1G>A (n.131-1G>A)
n.531-1G>A
c.8-1G>A (n.8-1G>A)
c.158-1G>A (n.158-1G>A)
7g.150959738T>ACA369863943KCNH2n.1139A>T
c.308-2A>T (n.308-2A>T)
c.131-2A>T (n.131-2A>T)
n.531-2A>T
c.8-2A>T (n.8-2A>T)
c.158-2A>T (n.158-2A>T)
7g.150959738T>CCA16605176KCNH2n.1139A>G
c.308-2A>G (n.308-2A>G)
c.131-2A>G (n.131-2A>G)
n.531-2A>G
c.8-2A>G (n.8-2A>G)
c.158-2A>G (n.158-2A>G)
 ClinVar dbSNP
7g.150959738T>GCA369863945KCNH2n.1139A>C
c.308-2A>C (n.308-2A>C)
c.131-2A>C (n.131-2A>C)
n.531-2A>C
c.8-2A>C (n.8-2A>C)
c.158-2A>C (n.158-2A>C)
7g.150959738T=CA1752420149KCNH2n.1139A=
c.308-2A= (n.308-2A=)
c.131-2A= (n.131-2A=)
n.531-2A=
c.8-2A= (n.8-2A=)
c.158-2A= (n.158-2A=)
7g.150959739G>ACA1752420155KCNH2n.1138C>T
c.308-3C>T (n.308-3C>T)
c.131-3C>T (n.131-3C>T)
n.531-3C>T
c.8-3C>T (n.8-3C>T)
c.158-3C>T (n.158-3C>T)
 dbSNP
7g.150959739G>CCA2739944261KCNH2n.1138C>G
c.308-3C>G (n.308-3C>G)
c.131-3C>G (n.131-3C>G)
n.531-3C>G
c.8-3C>G (n.8-3C>G)
c.158-3C>G (n.158-3C>G)
7g.150959739G=CA1752420153KCNH2n.1138C=
c.308-3C= (n.308-3C=)
c.131-3C= (n.131-3C=)
n.531-3C=
c.8-3C= (n.8-3C=)
c.158-3C= (n.158-3C=)
7g.150959739G>TCA036761KCNH2n.1138C>A
c.308-3C>A (n.308-3C>A)
c.131-3C>A (n.131-3C>A)
n.531-3C>A
c.8-3C>A (n.8-3C>A)
c.158-3C>A (n.158-3C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959740C>ACA2739944262KCNH2n.1137G>T
c.308-4G>T (n.308-4G>T)
c.131-4G>T (n.131-4G>T)
n.531-4G>T
c.8-4G>T (n.8-4G>T)
c.158-4G>T (n.158-4G>T)
7g.150959740C=CA1752420157KCNH2n.1137G=
c.308-4G= (n.308-4G=)
c.131-4G= (n.131-4G=)
n.531-4G=
c.8-4G= (n.8-4G=)
c.158-4G= (n.158-4G=)
7g.150959740C>GCA2685610298KCNH2n.1137G>C
c.308-4G>C (n.308-4G>C)
c.131-4G>C (n.131-4G>C)
n.531-4G>C
c.8-4G>C (n.8-4G>C)
c.158-4G>C (n.158-4G>C)
 gnomAD v4
7g.150959740C>TCA1752420158KCNH2n.1137G>A
c.308-4G>A (n.308-4G>A)
c.131-4G>A (n.131-4G>A)
n.531-4G>A
c.8-4G>A (n.8-4G>A)
c.158-4G>A (n.158-4G>A)
 ClinVar dbSNP
7g.150959742G>ACA2739944263KCNH2n.1135C>T
c.308-6C>T (n.308-6C>T)
c.131-6C>T (n.131-6C>T)
n.531-6C>T
c.8-6C>T (n.8-6C>T)
c.158-6C>T (n.158-6C>T)
7g.150959742G>CCA2739944264KCNH2n.1135C>G
c.308-6C>G (n.308-6C>G)
c.131-6C>G (n.131-6C>G)
n.531-6C>G
c.8-6C>G (n.8-6C>G)
c.158-6C>G (n.158-6C>G)
7g.150959742G>TCA2739944265KCNH2n.1135C>A
c.308-6C>A (n.308-6C>A)
c.131-6C>A (n.131-6C>A)
n.531-6C>A
c.8-6C>A (n.8-6C>A)
c.158-6C>A (n.158-6C>A)
7g.150959743A>CCA2739944266KCNH2n.1134T>G
c.308-7T>G (n.308-7T>G)
c.131-7T>G (n.131-7T>G)
n.531-7T>G
c.8-7T>G (n.8-7T>G)
c.158-7T>G (n.158-7T>G)
7g.150959743A>GCA2739944267KCNH2n.1134T>C
c.308-7T>C (n.308-7T>C)
c.131-7T>C (n.131-7T>C)
n.531-7T>C
c.8-7T>C (n.8-7T>C)
c.158-7T>C (n.158-7T>C)
7g.150959743A>TCA2739944268KCNH2n.1134T>A
c.308-7T>A (n.308-7T>A)
c.131-7T>A (n.131-7T>A)
n.531-7T>A
c.8-7T>A (n.8-7T>A)
c.158-7T>A (n.158-7T>A)
7g.150959744G>ACA2685610299KCNH2n.1133C>T
c.308-8C>T (n.308-8C>T)
c.131-8C>T (n.131-8C>T)
n.531-8C>T
c.8-8C>T (n.8-8C>T)
c.158-8C>T (n.158-8C>T)
 gnomAD v4
7g.150959744G>CCA2739944269KCNH2n.1133C>G
c.308-8C>G (n.308-8C>G)
c.131-8C>G (n.131-8C>G)
n.531-8C>G
c.8-8C>G (n.8-8C>G)
c.158-8C>G (n.158-8C>G)
7g.150959744G>TCA2739944270KCNH2n.1133C>A
c.308-8C>A (n.308-8C>A)
c.131-8C>A (n.131-8C>A)
n.531-8C>A
c.8-8C>A (n.8-8C>A)
c.158-8C>A (n.158-8C>A)

Number of alleles fetched