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.150959638C>ACA369863720KCNH2n.1239G>T
c.406G>T (p.Asp136Tyr)
c.229G>T (p.Asp77Tyr)
n.629G>T
c.106G>T (p.Asp36Tyr)
c.256G>T (p.Asp86Tyr)
 ClinVar dbSNP
7g.150959638C>GCA369863722KCNH2n.1239G>C
c.406G>C (p.Asp136His)
c.229G>C (p.Asp77His)
n.629G>C
c.106G>C (p.Asp36His)
c.256G>C (p.Asp86His)
7g.150959638C>TCA369863721KCNH2n.1239G>A
c.406G>A (p.Asp136Asn)
c.229G>A (p.Asp77Asn)
n.629G>A
c.106G>A (p.Asp36Asn)
c.256G>A (p.Asp86Asn)
7g.150959638_150959641delinsCCTTCA1752419952KCNH2n.1236_1239delinsAAGG
c.403_406delinsAAGG (p.Lys135=)
c.226_229delinsAAGG (p.Lys76=)
n.626_629delinsAAGG
c.103_106delinsAAGG (p.Lys35=)
c.253_256delinsAAGG (p.Lys85=)
7g.150959639C>ACA369863723KCNH2n.1238G>T
c.405G>T (p.Lys135Asn)
c.228G>T (p.Lys76Asn)
n.628G>T
c.105G>T (p.Lys35Asn)
c.255G>T (p.Lys85Asn)
7g.150959639C=CA1752419957KCNH2n.1238G=
c.405G= (p.Lys135=)
c.228G= (p.Lys76=)
n.628G=
c.105G= (p.Lys35=)
c.255G= (p.Lys85=)
7g.150959639C>GCA369863724KCNH2n.1238G>C
c.405G>C (p.Lys135Asn)
c.228G>C (p.Lys76Asn)
n.628G>C
c.105G>C (p.Lys35Asn)
c.255G>C (p.Lys85Asn)
7g.150959639C>TCA458646922KCNH2n.1238G>A
c.405G>A (p.Lys135=)
c.228G>A (p.Lys76=)
n.628G>A
c.105G>A (p.Lys35=)
c.255G>A (p.Lys85=)
 dbSNP
7g.150959641_150959643delCA1752419956KCNH2n.1236_1238del
c.403_405del (p.Lys135del)
c.226_228del (p.Lys76del)
n.626_628del
c.103_105del (p.Lys35del)
c.253_255del (p.Lys85del)
 ClinVar dbSNP gnomAD v4
7g.150959640T>ACA369863725KCNH2n.1237A>T
c.404A>T (p.Lys135Met)
c.227A>T (p.Lys76Met)
n.627A>T
c.104A>T (p.Lys35Met)
c.254A>T (p.Lys85Met)
7g.150959640T>CCA369863726KCNH2n.1237A>G
c.404A>G (p.Lys135Arg)
c.227A>G (p.Lys76Arg)
n.627A>G
c.104A>G (p.Lys35Arg)
c.254A>G (p.Lys85Arg)
7g.150959640T>GCA369863727KCNH2n.1237A>C
c.404A>C (p.Lys135Thr)
c.227A>C (p.Lys76Thr)
n.627A>C
c.104A>C (p.Lys35Thr)
c.254A>C (p.Lys85Thr)
7g.150959641T>ACA369863728KCNH2n.1236A>T
c.403A>T (p.Lys135Ter)
c.226A>T (p.Lys76Ter)
n.626A>T
c.103A>T (p.Lys35Ter)
c.253A>T (p.Lys85Ter)
7g.150959641T>CCA369863729KCNH2n.1236A>G
c.403A>G (p.Lys135Glu)
c.226A>G (p.Lys76Glu)
n.626A>G
c.103A>G (p.Lys35Glu)
c.253A>G (p.Lys85Glu)
7g.150959641T>GCA369863730KCNH2n.1236A>C
c.403A>C (p.Lys135Gln)
c.226A>C (p.Lys76Gln)
n.626A>C
c.103A>C (p.Lys35Gln)
c.253A>C (p.Lys85Gln)
7g.150959641_150959642delinsTCCA1752419961KCNH2n.1235_1236delinsGA
c.402_403delinsGA (p.Glu134=)
c.225_226delinsGA (p.Glu75=)
n.625_626delinsGA
c.102_103delinsGA (p.Glu34=)
c.252_253delinsGA (p.Glu84=)
7g.150959642delCA16612199KCNH2n.1235del
c.402del (p.Lys135ArgfsTer?)
c.225del (p.Lys76ArgfsTer9)
n.625del
c.102del (p.Lys35ArgfsTer?)
c.252del (p.Lys85ArgfsTer?)
c.225del (p.Lys76ArgfsTer?)
 ClinVar dbSNP
7g.150959642C>ACA369863731KCNH2n.1235G>T
c.402G>T (p.Glu134Asp)
c.225G>T (p.Glu75Asp)
n.625G>T
c.102G>T (p.Glu34Asp)
c.252G>T (p.Glu84Asp)
7g.150959642C>GCA369863732KCNH2n.1235G>C
c.402G>C (p.Glu134Asp)
c.225G>C (p.Glu75Asp)
n.625G>C
c.102G>C (p.Glu34Asp)
c.252G>C (p.Glu84Asp)
7g.150959642C>TCA458646923KCNH2n.1235G>A
c.402G>A (p.Glu134=)
c.225G>A (p.Glu75=)
n.625G>A
c.102G>A (p.Glu34=)
c.252G>A (p.Glu84=)
7g.150959643T>ACA369863735KCNH2n.1234A>T
c.401A>T (p.Glu134Val)
c.224A>T (p.Glu75Val)
n.624A>T
c.101A>T (p.Glu34Val)
c.251A>T (p.Glu84Val)
7g.150959643T>CCA369863734KCNH2n.1234A>G
c.401A>G (p.Glu134Gly)
c.224A>G (p.Glu75Gly)
n.624A>G
c.101A>G (p.Glu34Gly)
c.251A>G (p.Glu84Gly)
 ClinVar dbSNP
7g.150959643T>GCA369863733KCNH2n.1234A>C
c.401A>C (p.Glu134Ala)
c.224A>C (p.Glu75Ala)
n.624A>C
c.101A>C (p.Glu34Ala)
c.251A>C (p.Glu84Ala)
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)

Number of alleles fetched