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.150959608T>ACA369863656KCNH2n.1269A>T
c.436A>T (p.Asn146Tyr)
c.234+25A>T (n.234+25A>T)
n.659A>T
c.136A>T (p.Asn46Tyr)
c.286A>T (p.Asn96Tyr)
c.259A>T (p.Asn87Tyr)
 gnomAD v4
7g.150959608T>CCA369863657KCNH2n.1269A>G
c.436A>G (p.Asn146Asp)
c.234+25A>G (n.234+25A>G)
n.659A>G
c.136A>G (p.Asn46Asp)
c.286A>G (p.Asn96Asp)
c.259A>G (p.Asn87Asp)
 dbSNP gnomAD v3 gnomAD v4
7g.150959608T>GCA369863658KCNH2n.1269A>C
c.436A>C (p.Asn146His)
c.234+25A>C (n.234+25A>C)
n.659A>C
c.136A>C (p.Asn46His)
c.286A>C (p.Asn96His)
c.259A>C (p.Asn87His)
7g.150959608T=CA1752419882KCNH2n.1269A=
c.436A= (p.Asn146=)
c.234+25A= (n.234+25A=)
n.659A=
c.136A= (p.Asn46=)
c.286A= (p.Asn96=)
c.259A= (p.Asn87=)
7g.150959609G>ACA169082123KCNH2n.1268C>T
c.435C>T (p.Thr145=)
c.234+24C>T (n.234+24C>T)
n.658C>T
c.135C>T (p.Thr45=)
c.285C>T (p.Thr95=)
c.258C>T (p.Thr86=)
 ClinVar dbSNP gnomAD v4
7g.150959609G>CCA458646906KCNH2n.1268C>G
c.435C>G (p.Thr145=)
c.234+24C>G (n.234+24C>G)
n.658C>G
c.135C>G (p.Thr45=)
c.285C>G (p.Thr95=)
c.258C>G (p.Thr86=)
7g.150959609G=CA1752419887KCNH2n.1268C=
c.435C= (p.Thr145=)
c.234+24C= (n.234+24C=)
n.658C=
c.135C= (p.Thr45=)
c.285C= (p.Thr95=)
c.258C= (p.Thr86=)
7g.150959609G>TCA458646907KCNH2n.1268C>A
c.435C>A (p.Thr145=)
c.234+24C>A (n.234+24C>A)
n.658C>A
c.135C>A (p.Thr45=)
c.285C>A (p.Thr95=)
c.258C>A (p.Thr86=)
7g.150959610G>ACA369863661KCNH2n.1267C>T
c.434C>T (p.Thr145Ile)
c.234+23C>T (n.234+23C>T)
n.657C>T
c.134C>T (p.Thr45Ile)
c.284C>T (p.Thr95Ile)
c.257C>T (p.Thr86Ile)
 ClinVar dbSNP gnomAD v4
7g.150959610G>CCA369863660KCNH2n.1267C>G
c.434C>G (p.Thr145Ser)
c.234+23C>G (n.234+23C>G)
n.657C>G
c.134C>G (p.Thr45Ser)
c.284C>G (p.Thr95Ser)
c.257C>G (p.Thr86Ser)
7g.150959610G=CA1752419890KCNH2n.1267C=
c.434C= (p.Thr145=)
c.234+23C= (n.234+23C=)
n.657C=
c.134C= (p.Thr45=)
c.284C= (p.Thr95=)
c.257C= (p.Thr86=)
7g.150959610G>TCA369863659KCNH2n.1267C>A
c.434C>A (p.Thr145Asn)
c.234+23C>A (n.234+23C>A)
n.657C>A
c.134C>A (p.Thr45Asn)
c.284C>A (p.Thr95Asn)
c.257C>A (p.Thr86Asn)
7g.150959611T>ACA369863663KCNH2n.1266A>T
c.433A>T (p.Thr145Ser)
c.234+22A>T (n.234+22A>T)
n.656A>T
c.133A>T (p.Thr45Ser)
c.283A>T (p.Thr95Ser)
c.256A>T (p.Thr86Ser)
7g.150959611T>CCA369863662KCNH2n.1266A>G
c.433A>G (p.Thr145Ala)
c.234+22A>G (n.234+22A>G)
n.656A>G
c.133A>G (p.Thr45Ala)
c.283A>G (p.Thr95Ala)
c.256A>G (p.Thr86Ala)
 gnomAD v4
7g.150959611T>GCA369863664KCNH2n.1266A>C
c.433A>C (p.Thr145Pro)
c.234+22A>C (n.234+22A>C)
n.656A>C
c.133A>C (p.Thr45Pro)
c.283A>C (p.Thr95Pro)
c.256A>C (p.Thr86Pro)
7g.150959612G>ACA039409KCNH2n.1265C>T
c.432C>T (p.Asp144=)
c.234+21C>T (n.234+21C>T)
n.655C>T
c.132C>T (p.Asp44=)
c.282C>T (p.Asp94=)
c.255C>T (p.Asp85=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959612G>CCA369863665KCNH2n.1265C>G
c.432C>G (p.Asp144Glu)
c.234+21C>G (n.234+21C>G)
n.655C>G
c.132C>G (p.Asp44Glu)
c.282C>G (p.Asp94Glu)
c.255C>G (p.Asp85Glu)
7g.150959612G=CA1752419897KCNH2n.1265C=
c.432C= (p.Asp144=)
c.234+21C= (n.234+21C=)
n.655C=
c.132C= (p.Asp44=)
c.282C= (p.Asp94=)
c.255C= (p.Asp85=)
7g.150959612G>TCA369863666KCNH2n.1265C>A
c.432C>A (p.Asp144Glu)
c.234+21C>A (n.234+21C>A)
n.655C>A
c.132C>A (p.Asp44Glu)
c.282C>A (p.Asp94Glu)
c.255C>A (p.Asp85Glu)
7g.150959613T>ACA039396KCNH2n.1264A>T
c.431A>T (p.Asp144Val)
c.234+20A>T (n.234+20A>T)
n.654A>T
c.131A>T (p.Asp44Val)
c.281A>T (p.Asp94Val)
c.254A>T (p.Asp85Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959613T>CCA369863667KCNH2n.1264A>G
c.431A>G (p.Asp144Gly)
c.234+20A>G (n.234+20A>G)
n.654A>G
c.131A>G (p.Asp44Gly)
c.281A>G (p.Asp94Gly)
c.254A>G (p.Asp85Gly)
 dbSNP gnomAD v3 gnomAD v4
7g.150959613T>GCA369863668KCNH2n.1264A>C
c.431A>C (p.Asp144Ala)
c.234+20A>C (n.234+20A>C)
n.654A>C
c.131A>C (p.Asp44Ala)
c.281A>C (p.Asp94Ala)
c.254A>C (p.Asp85Ala)
7g.150959613T=CA1752419899KCNH2n.1264A=
c.431A= (p.Asp144=)
c.234+20A= (n.234+20A=)
n.654A=
c.131A= (p.Asp44=)
c.281A= (p.Asp94=)
c.254A= (p.Asp85=)
7g.150959614C>ACA369863669KCNH2n.1263G>T
c.430G>T (p.Asp144Tyr)
c.234+19G>T (n.234+19G>T)
n.653G>T
c.130G>T (p.Asp44Tyr)
c.280G>T (p.Asp94Tyr)
c.253G>T (p.Asp85Tyr)
 COSMIC COSMIC
7g.150959614C>GCA369863670KCNH2n.1263G>C
c.430G>C (p.Asp144His)
c.234+19G>C (n.234+19G>C)
n.653G>C
c.130G>C (p.Asp44His)
c.280G>C (p.Asp94His)
c.253G>C (p.Asp85His)
7g.150959614C>TCA369863671KCNH2n.1263G>A
c.430G>A (p.Asp144Asn)
c.234+19G>A (n.234+19G>A)
n.653G>A
c.130G>A (p.Asp44Asn)
c.280G>A (p.Asp94Asn)
c.253G>A (p.Asp85Asn)
 gnomAD v4
7g.150959615A>CCA369863672KCNH2n.1262T>G
c.429T>G (p.His143Gln)
c.234+18T>G (n.234+18T>G)
n.652T>G
c.129T>G (p.His43Gln)
c.279T>G (p.His93Gln)
c.252T>G (p.His84Gln)
7g.150959615A>GCA458646908KCNH2n.1262T>C
c.429T>C (p.His143=)
c.234+18T>C (n.234+18T>C)
n.652T>C
c.129T>C (p.His43=)
c.279T>C (p.His93=)
c.252T>C (p.His84=)
7g.150959615A>TCA369863673KCNH2n.1262T>A
c.429T>A (p.His143Gln)
c.234+18T>A (n.234+18T>A)
n.652T>A
c.129T>A (p.His43Gln)
c.279T>A (p.His93Gln)
c.252T>A (p.His84Gln)
7g.150959616T>ACA369863676KCNH2n.1261A>T
c.428A>T (p.His143Leu)
c.234+17A>T (n.234+17A>T)
n.651A>T
c.128A>T (p.His43Leu)
c.278A>T (p.His93Leu)
c.251A>T (p.His84Leu)
7g.150959616T>CCA369863675KCNH2n.1261A>G
c.428A>G (p.His143Arg)
c.234+17A>G (n.234+17A>G)
n.651A>G
c.128A>G (p.His43Arg)
c.278A>G (p.His93Arg)
c.251A>G (p.His84Arg)
 gnomAD v4
7g.150959616T>GCA369863674KCNH2n.1261A>C
c.428A>C (p.His143Pro)
c.234+17A>C (n.234+17A>C)
n.651A>C
c.128A>C (p.His43Pro)
c.278A>C (p.His93Pro)
c.251A>C (p.His84Pro)
7g.150959617G>ACA369863677KCNH2n.1260C>T
c.427C>T (p.His143Tyr)
c.234+16C>T (n.234+16C>T)
n.650C>T
c.127C>T (p.His43Tyr)
c.277C>T (p.His93Tyr)
c.250C>T (p.His84Tyr)
 gnomAD v4 COSMIC COSMIC
7g.150959617G>CCA369863678KCNH2n.1260C>G
c.427C>G (p.His143Asp)
c.234+16C>G (n.234+16C>G)
n.650C>G
c.127C>G (p.His43Asp)
c.277C>G (p.His93Asp)
c.250C>G (p.His84Asp)
7g.150959617G>TCA369863679KCNH2n.1260C>A
c.427C>A (p.His143Asn)
c.234+16C>A (n.234+16C>A)
n.650C>A
c.127C>A (p.His43Asn)
c.277C>A (p.His93Asn)
c.250C>A (p.His84Asn)
7g.150959618A>CCA458646909KCNH2n.1259T>G
c.426T>G (p.Ala142=)
c.234+15T>G (n.234+15T>G)
n.649T>G
c.126T>G (p.Ala42=)
c.276T>G (p.Ala92=)
c.249T>G (p.Ala83=)
7g.150959618A>GCA458646910KCNH2n.1259T>C
c.426T>C (p.Ala142=)
c.234+15T>C (n.234+15T>C)
n.649T>C
c.126T>C (p.Ala42=)
c.276T>C (p.Ala92=)
c.249T>C (p.Ala83=)
 ClinVar dbSNP gnomAD v4
7g.150959618A>TCA458646911KCNH2n.1259T>A
c.426T>A (p.Ala142=)
c.234+15T>A (n.234+15T>A)
n.649T>A
c.126T>A (p.Ala42=)
c.276T>A (p.Ala92=)
c.249T>A (p.Ala83=)
7g.150959619G>ACA369863680KCNH2n.1258C>T
c.425C>T (p.Ala142Val)
c.234+14C>T (n.234+14C>T)
n.648C>T
c.125C>T (p.Ala42Val)
c.275C>T (p.Ala92Val)
c.248C>T (p.Ala83Val)
7g.150959619G>CCA369863681KCNH2n.1258C>G
c.425C>G (p.Ala142Gly)
c.234+14C>G (n.234+14C>G)
n.648C>G
c.125C>G (p.Ala42Gly)
c.275C>G (p.Ala92Gly)
c.248C>G (p.Ala83Gly)
7g.150959619G>TCA369863682KCNH2n.1258C>A
c.425C>A (p.Ala142Asp)
c.234+14C>A (n.234+14C>A)
n.648C>A
c.125C>A (p.Ala42Asp)
c.275C>A (p.Ala92Asp)
c.248C>A (p.Ala83Asp)
7g.150959620C>ACA369863683KCNH2n.1257G>T
c.424G>T (p.Ala142Ser)
c.234+13G>T (n.234+13G>T)
n.647G>T
c.124G>T (p.Ala42Ser)
c.274G>T (p.Ala92Ser)
c.247G>T (p.Ala83Ser)
 COSMIC COSMIC
7g.150959620C=CA1752419904KCNH2n.1257G=
c.424G= (p.Ala142=)
c.234+13G= (n.234+13G=)
n.647G=
c.124G= (p.Ala42=)
c.274G= (p.Ala92=)
c.247G= (p.Ala83=)
7g.150959620C>GCA369863684KCNH2n.1257G>C
c.424G>C (p.Ala142Pro)
c.234+13G>C (n.234+13G>C)
n.647G>C
c.124G>C (p.Ala42Pro)
c.274G>C (p.Ala92Pro)
c.247G>C (p.Ala83Pro)
7g.150959620C>TCA039366KCNH2n.1257G>A
c.424G>A (p.Ala142Thr)
c.234+13G>A (n.234+13G>A)
n.647G>A
c.124G>A (p.Ala42Thr)
c.274G>A (p.Ala92Thr)
c.247G>A (p.Ala83Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959621C>ACA458646912KCNH2n.1256G>T
c.423G>T (p.Pro141=)
c.234+12G>T (n.234+12G>T)
n.646G>T
c.123G>T (p.Pro41=)
c.273G>T (p.Pro91=)
c.246G>T (p.Pro82=)
7g.150959621C=CA1752419909KCNH2n.1256G=
c.423G= (p.Pro141=)
c.234+12G= (n.234+12G=)
n.646G=
c.123G= (p.Pro41=)
c.273G= (p.Pro91=)
c.246G= (p.Pro82=)
7g.150959621C>GCA458646913KCNH2n.1256G>C
c.423G>C (p.Pro141=)
c.234+12G>C (n.234+12G>C)
n.646G>C
c.123G>C (p.Pro41=)
c.273G>C (p.Pro91=)
c.246G>C (p.Pro82=)

Number of alleles fetched