Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150959587_150959649delinsTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA | CA1752419809 | KCNH2 | n.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=) | |
7 | g.150959588_150959649del | CA16618415 | KCNH2 | n.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 |
7 | g.150959636_150959663del | CA2695208663 | KCNH2 | n.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) | |
7 | g.150959641_150959643del | CA1752419956 | KCNH2 | n.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 |
7 | g.150959641_150959642delinsTC | CA1752419961 | KCNH2 | n.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=) | |
7 | g.150959642del | CA16612199 | KCNH2 | n.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 |
7 | g.150959642C>A | CA369863731 | KCNH2 | n.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) | |
7 | g.150959642C>G | CA369863732 | KCNH2 | n.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) | |
7 | g.150959642C>T | CA458646923 | KCNH2 | n.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=) | |
7 | g.150959643T>A | CA369863735 | KCNH2 | n.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) | |
7 | g.150959643T>C | CA369863734 | KCNH2 | n.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 |
7 | g.150959643T>G | CA369863733 | KCNH2 | n.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) | |
7 | g.150959644C>A | CA369863736 | KCNH2 | n.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 |
7 | g.150959644C>G | CA369863737 | KCNH2 | n.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) | |
7 | g.150959644C>T | CA369863738 | KCNH2 | n.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) | |
7 | g.150959645C>A | CA369863739 | KCNH2 | n.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) | |
7 | g.150959645C>G | CA369863740 | KCNH2 | n.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) | |
7 | g.150959645C>T | CA369863741 | KCNH2 | n.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 |
7 | g.150959646A= | CA1752419968 | KCNH2 | n.1231T= c.398T= (p.Met133=) c.221T= (p.Met74=) n.621T= c.98T= (p.Met33=) c.248T= (p.Met83=) | |
7 | g.150959646A>C | CA369863742 | KCNH2 | n.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) | |
7 | g.150959646A>G | CA008423 | KCNH2 | n.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 |
7 | g.150959646A>T | CA369863743 | KCNH2 | n.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) | |
7 | g.150959647del | CA2580077717 | KCNH2 | n.1230del c.397del (p.Met133TrpfsTer?) c.220del (p.Met74TrpfsTer11) n.620del c.97del (p.Met33TrpfsTer?) c.247del (p.Met83TrpfsTer?) c.220del (p.Met74TrpfsTer?) | ClinVar |
7 | g.150959647T>A | CA369863744 | KCNH2 | n.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) | |
7 | g.150959647T>C | CA369863745 | KCNH2 | n.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 |
7 | g.150959647T>G | CA369863746 | KCNH2 | n.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) | |
7 | g.150959647_150959650delinsTCAC | CA1752419972 | KCNH2 | n.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=) | |
7 | g.150959648C>A | CA458646924 | KCNH2 | n.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 |
7 | g.150959648C= | CA1752419975 | KCNH2 | n.1229G= c.396G= (p.Val132=) c.219G= (p.Val73=) n.619G= c.96G= (p.Val32=) c.246G= (p.Val82=) | |
7 | g.150959648C>G | CA458646925 | KCNH2 | n.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=) | |
7 | g.150959648C>T | CA458646926 | KCNH2 | n.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=) | |
7 | g.150959652_150959654del | CA579075526 | KCNH2 | n.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 |
7 | g.150959649A>C | CA369863748 | KCNH2 | n.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) | |
7 | g.150959649A>G | CA369863749 | KCNH2 | n.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 |
7 | g.150959649A>T | CA369863747 | KCNH2 | n.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) | |
7 | g.150959650C>A | CA369863750 | KCNH2 | n.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) | |
7 | g.150959650C>G | CA369863751 | KCNH2 | n.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) | |
7 | g.150959650C>T | CA369863752 | KCNH2 | n.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) | |
7 | g.150959651C>A | CA458646927 | KCNH2 | n.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=) | |
7 | g.150959651C= | CA1752419978 | KCNH2 | n.1226G= c.393G= (p.Val131=) c.216G= (p.Val72=) n.616G= c.93G= (p.Val31=) c.243G= (p.Val81=) | |
7 | g.150959651C>G | CA458646928 | KCNH2 | n.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=) | |
7 | g.150959651C>T | CA039286 | KCNH2 | n.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 |
7 | g.150959652A>C | CA369863753 | KCNH2 | n.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) | |
7 | g.150959652A>G | CA369863754 | KCNH2 | n.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 |
7 | g.150959652A>T | CA369863755 | KCNH2 | n.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) | |
7 | g.150959653C>A | CA039271 | KCNH2 | n.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 |
7 | g.150959653C= | CA1752419985 | KCNH2 | n.1224G= c.391G= (p.Val131=) c.214G= (p.Val72=) n.614G= c.91G= (p.Val31=) c.241G= (p.Val81=) | |
7 | g.150959653C>G | CA369863756 | KCNH2 | n.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 |
7 | g.150959653C>T | CA369863757 | KCNH2 | n.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 |
7 | g.150959654C>A | CA071494 | KCNH2 | n.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) |