| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
| 7 | g.150952563G>A | CA16605080 | KCNH2 | n.717C>T n.312C>T n.2252C>T c.1419C>T (p.Thr473=) c.399C>T (p.Thr133=) c.1071C>T (p.Thr357=) n.706C>T n.724C>T n.1642C>T c.1119C>T (p.Thr373=) c.1269C>T (p.Thr423=) c.1242C>T (p.Thr414=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150952563G>C | CA458871640 | KCNH2 | n.717C>G n.312C>G n.2252C>G c.1419C>G (p.Thr473=) c.399C>G (p.Thr133=) c.1071C>G (p.Thr357=) n.706C>G n.724C>G n.1642C>G c.1119C>G (p.Thr373=) c.1269C>G (p.Thr423=) c.1242C>G (p.Thr414=) | |
| 7 | g.150952563G= | CA1752411769 | KCNH2 | n.717C= n.312C= n.2252C= c.1419C= (p.Thr473=) c.399C= (p.Thr133=) c.1071C= (p.Thr357=) n.706C= n.724C= n.1642C= c.1119C= (p.Thr373=) c.1269C= (p.Thr423=) c.1242C= (p.Thr414=) | |
| 7 | g.150952563G>T | CA458871641 | KCNH2 | n.717C>A n.312C>A n.2252C>A c.1419C>A (p.Thr473=) c.399C>A (p.Thr133=) c.1071C>A (p.Thr357=) n.706C>A n.724C>A n.1642C>A c.1119C>A (p.Thr373=) c.1269C>A (p.Thr423=) c.1242C>A (p.Thr414=) | ClinVar dbSNP |
| 7 | g.150952564G>A | CA369859794 | KCNH2 | n.716C>T n.311C>T n.2251C>T c.1418C>T (p.Thr473Ile) c.398C>T (p.Thr133Ile) c.1070C>T (p.Thr357Ile) n.705C>T n.723C>T n.1641C>T c.1118C>T (p.Thr373Ile) c.1268C>T (p.Thr423Ile) c.1241C>T (p.Thr414Ile) | ClinVar dbSNP |
| 7 | g.150952564G>C | CA369859795 | KCNH2 | n.716C>G n.311C>G n.2251C>G c.1418C>G (p.Thr473Ser) c.398C>G (p.Thr133Ser) c.1070C>G (p.Thr357Ser) n.705C>G n.723C>G n.1641C>G c.1118C>G (p.Thr373Ser) c.1268C>G (p.Thr423Ser) c.1241C>G (p.Thr414Ser) | |
| 7 | g.150952564G= | CA1752411772 | KCNH2 | n.716C= n.311C= n.2251C= c.1418C= (p.Thr473=) c.398C= (p.Thr133=) c.1070C= (p.Thr357=) n.705C= n.723C= n.1641C= c.1118C= (p.Thr373=) c.1268C= (p.Thr423=) c.1241C= (p.Thr414=) | |
| 7 | g.150952564G>T | CA004603 | KCNH2 | n.716C>A n.311C>A n.2251C>A c.1418C>A (p.Thr473Asn) c.398C>A (p.Thr133Asn) c.1070C>A (p.Thr357Asn) n.705C>A n.723C>A n.1641C>A c.1118C>A (p.Thr373Asn) c.1268C>A (p.Thr423Asn) c.1241C>A (p.Thr414Asn) | ClinVar dbSNP |
| 7 | g.150952565T>A | CA369859797 | KCNH2 | n.715A>T n.310A>T n.2250A>T c.1417A>T (p.Thr473Ser) c.397A>T (p.Thr133Ser) c.1069A>T (p.Thr357Ser) n.704A>T n.722A>T n.1640A>T c.1117A>T (p.Thr373Ser) c.1267A>T (p.Thr423Ser) c.1240A>T (p.Thr414Ser) | |
| 7 | g.150952565T>C | CA369859796 | KCNH2 | n.715A>G n.310A>G n.2250A>G c.1417A>G (p.Thr473Ala) c.397A>G (p.Thr133Ala) c.1069A>G (p.Thr357Ala) n.704A>G n.722A>G n.1640A>G c.1117A>G (p.Thr373Ala) c.1267A>G (p.Thr423Ala) c.1240A>G (p.Thr414Ala) | ClinVar |
| 7 | g.150952565T>G | CA004596 | KCNH2 | n.715A>C n.310A>C n.2250A>C c.1417A>C (p.Thr473Pro) c.397A>C (p.Thr133Pro) c.1069A>C (p.Thr357Pro) n.704A>C n.722A>C n.1640A>C c.1117A>C (p.Thr373Pro) c.1267A>C (p.Thr423Pro) c.1240A>C (p.Thr414Pro) | ClinVar dbSNP |
| 7 | g.150952565T= | CA1752411777 | KCNH2 | n.715A= n.310A= n.2250A= c.1417A= (p.Thr473=) c.397A= (p.Thr133=) c.1069A= (p.Thr357=) n.704A= n.722A= n.1640A= c.1117A= (p.Thr373=) c.1267A= (p.Thr423=) c.1240A= (p.Thr414=) | |
| 7 | g.150952566G>A | CA027926 | KCNH2 | n.714C>T n.309C>T n.2249C>T c.1416C>T (p.Arg472=) c.396C>T (p.Arg132=) c.1068C>T (p.Arg356=) n.703C>T n.721C>T n.1639C>T c.1116C>T (p.Arg372=) c.1266C>T (p.Arg422=) c.1239C>T (p.Arg413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150952566G>C | CA458871642 | KCNH2 | n.714C>G n.309C>G n.2249C>G c.1416C>G (p.Arg472=) c.396C>G (p.Arg132=) c.1068C>G (p.Arg356=) n.703C>G n.721C>G n.1639C>G c.1116C>G (p.Arg372=) c.1266C>G (p.Arg422=) c.1239C>G (p.Arg413=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150952566G= | CA1752411779 | KCNH2 | n.714C= n.309C= n.2249C= c.1416C= (p.Arg472=) c.396C= (p.Arg132=) c.1068C= (p.Arg356=) n.703C= n.721C= n.1639C= c.1116C= (p.Arg372=) c.1266C= (p.Arg422=) c.1239C= (p.Arg413=) | |
| 7 | g.150952566G>T | CA458871643 | KCNH2 | n.714C>A n.309C>A n.2249C>A c.1416C>A (p.Arg472=) c.396C>A (p.Arg132=) c.1068C>A (p.Arg356=) n.703C>A n.721C>A n.1639C>A c.1116C>A (p.Arg372=) c.1266C>A (p.Arg422=) c.1239C>A (p.Arg413=) | |
| 7 | g.150952567C>A | CA369859798 | KCNH2 | n.713G>T n.308G>T n.2248G>T c.1415G>T (p.Arg472Leu) c.395G>T (p.Arg132Leu) c.1067G>T (p.Arg356Leu) n.702G>T n.720G>T n.1638G>T c.1115G>T (p.Arg372Leu) c.1265G>T (p.Arg422Leu) c.1238G>T (p.Arg413Leu) | |
| 7 | g.150952567C= | CA1752411783 | KCNH2 | n.713G= n.308G= n.2248G= c.1415G= (p.Arg472=) c.395G= (p.Arg132=) c.1067G= (p.Arg356=) n.702G= n.720G= n.1638G= c.1115G= (p.Arg372=) c.1265G= (p.Arg422=) c.1238G= (p.Arg413=) | |
| 7 | g.150952567C>G | CA004589 | KCNH2 | n.713G>C n.308G>C n.2248G>C c.1415G>C (p.Arg472Pro) c.395G>C (p.Arg132Pro) c.1067G>C (p.Arg356Pro) n.702G>C n.720G>C n.1638G>C c.1115G>C (p.Arg372Pro) c.1265G>C (p.Arg422Pro) c.1238G>C (p.Arg413Pro) | ClinVar dbSNP |
| 7 | g.150952567C>T | CA070079 | KCNH2 | n.713G>A n.308G>A n.2248G>A c.1415G>A (p.Arg472His) c.395G>A (p.Arg132His) c.1067G>A (p.Arg356His) n.702G>A n.720G>A n.1638G>A c.1115G>A (p.Arg372His) c.1265G>A (p.Arg422His) c.1238G>A (p.Arg413His) | ClinVar |
| 7 | g.150952568G>A | CA027907 | KCNH2 | n.712C>T n.307C>T n.2247C>T c.1414C>T (p.Arg472Cys) c.394C>T (p.Arg132Cys) c.1066C>T (p.Arg356Cys) n.701C>T n.719C>T n.1637C>T c.1114C>T (p.Arg372Cys) c.1264C>T (p.Arg422Cys) c.1237C>T (p.Arg413Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150952568G>C | CA369859799 | KCNH2 | n.712C>G n.307C>G n.2247C>G c.1414C>G (p.Arg472Gly) c.394C>G (p.Arg132Gly) c.1066C>G (p.Arg356Gly) n.701C>G n.719C>G n.1637C>G c.1114C>G (p.Arg372Gly) c.1264C>G (p.Arg422Gly) c.1237C>G (p.Arg413Gly) | |
| 7 | g.150952568G= | CA1752411788 | KCNH2 | n.712C= n.307C= n.2247C= c.1414C= (p.Arg472=) c.394C= (p.Arg132=) c.1066C= (p.Arg356=) n.701C= n.719C= n.1637C= c.1114C= (p.Arg372=) c.1264C= (p.Arg422=) c.1237C= (p.Arg413=) | |
| 7 | g.150952568G>T | CA369859800 | KCNH2 | n.712C>A n.307C>A n.2247C>A c.1414C>A (p.Arg472Ser) c.394C>A (p.Arg132Ser) c.1066C>A (p.Arg356Ser) n.701C>A n.719C>A n.1637C>A c.1114C>A (p.Arg372Ser) c.1264C>A (p.Arg422Ser) c.1237C>A (p.Arg413Ser) | |
| 7 | g.150952569del | CA2695208734 | KCNH2 | n.712del n.307del n.2247del c.1414del (p.Arg472AlafsTer?) c.394del (p.Arg132AlafsTer?) c.1066del (p.Arg356AlafsTer?) n.701del n.719del n.1637del c.1114del (p.Arg372AlafsTer?) c.1264del (p.Arg422AlafsTer?) c.1237del (p.Arg413AlafsTer?) | |
| 7 | g.150952569G>A | CA458871644 | KCNH2 | n.711C>T n.306C>T n.2246C>T c.1413C>T (p.Phe471=) c.393C>T (p.Phe131=) c.1065C>T (p.Phe355=) n.700C>T n.718C>T n.1636C>T c.1113C>T (p.Phe371=) c.1263C>T (p.Phe421=) c.1236C>T (p.Phe412=) | gnomAD v4 |
| 7 | g.150952569G>C | CA369859801 | KCNH2 | n.711C>G n.306C>G n.2246C>G c.1413C>G (p.Phe471Leu) c.393C>G (p.Phe131Leu) c.1065C>G (p.Phe355Leu) n.700C>G n.718C>G n.1636C>G c.1113C>G (p.Phe371Leu) c.1263C>G (p.Phe421Leu) c.1236C>G (p.Phe412Leu) | |
| 7 | g.150952569G>T | CA369859802 | KCNH2 | n.711C>A n.306C>A n.2246C>A c.1413C>A (p.Phe471Leu) c.393C>A (p.Phe131Leu) c.1065C>A (p.Phe355Leu) n.700C>A n.718C>A n.1636C>A c.1113C>A (p.Phe371Leu) c.1263C>A (p.Phe421Leu) c.1236C>A (p.Phe412Leu) | gnomAD v4 |
| 7 | g.150952570A>C | CA369859803 | KCNH2 | n.710T>G n.305T>G n.2245T>G c.1412T>G (p.Phe471Cys) c.392T>G (p.Phe131Cys) c.1064T>G (p.Phe355Cys) n.699T>G n.717T>G n.1635T>G c.1112T>G (p.Phe371Cys) c.1262T>G (p.Phe421Cys) c.1235T>G (p.Phe412Cys) | |
| 7 | g.150952570A>G | CA369859804 | KCNH2 | n.710T>C n.305T>C n.2245T>C c.1412T>C (p.Phe471Ser) c.392T>C (p.Phe131Ser) c.1064T>C (p.Phe355Ser) n.699T>C n.717T>C n.1635T>C c.1112T>C (p.Phe371Ser) c.1262T>C (p.Phe421Ser) c.1235T>C (p.Phe412Ser) | |
| 7 | g.150952570A>T | CA369859805 | KCNH2 | n.710T>A n.305T>A n.2245T>A c.1412T>A (p.Phe471Tyr) c.392T>A (p.Phe131Tyr) c.1064T>A (p.Phe355Tyr) n.699T>A n.717T>A n.1635T>A c.1112T>A (p.Phe371Tyr) c.1262T>A (p.Phe421Tyr) c.1235T>A (p.Phe412Tyr) | |
| 7 | g.150952571A>C | CA369859806 | KCNH2 | n.709T>G n.304T>G n.2244T>G c.1411T>G (p.Phe471Val) c.391T>G (p.Phe131Val) c.1063T>G (p.Phe355Val) n.698T>G n.716T>G n.1634T>G c.1111T>G (p.Phe371Val) c.1261T>G (p.Phe421Val) c.1234T>G (p.Phe412Val) | |
| 7 | g.150952571A>G | CA369859808 | KCNH2 | n.709T>C n.304T>C n.2244T>C c.1411T>C (p.Phe471Leu) c.391T>C (p.Phe131Leu) c.1063T>C (p.Phe355Leu) n.698T>C n.716T>C n.1634T>C c.1111T>C (p.Phe371Leu) c.1261T>C (p.Phe421Leu) c.1234T>C (p.Phe412Leu) | |
| 7 | g.150952571A>T | CA369859807 | KCNH2 | n.709T>A n.304T>A n.2244T>A c.1411T>A (p.Phe471Ile) c.391T>A (p.Phe131Ile) c.1063T>A (p.Phe355Ile) n.698T>A n.716T>A n.1634T>A c.1111T>A (p.Phe371Ile) c.1261T>A (p.Phe421Ile) c.1234T>A (p.Phe412Ile) | |
| 7 | g.150952572G>A | CA458871645 | KCNH2 | n.708C>T n.303C>T n.2243C>T c.1410C>T (p.Asn470=) c.390C>T (p.Asn130=) c.1062C>T (p.Asn354=) n.697C>T n.715C>T n.1633C>T c.1110C>T (p.Asn370=) c.1260C>T (p.Asn420=) c.1233C>T (p.Asn411=) | ClinVar dbSNP |
| 7 | g.150952572G>C | CA369859809 | KCNH2 | n.708C>G n.303C>G n.2243C>G c.1410C>G (p.Asn470Lys) c.390C>G (p.Asn130Lys) c.1062C>G (p.Asn354Lys) n.697C>G n.715C>G n.1633C>G c.1110C>G (p.Asn370Lys) c.1260C>G (p.Asn420Lys) c.1233C>G (p.Asn411Lys) | |
| 7 | g.150952572G= | CA1752411792 | KCNH2 | n.708C= n.303C= n.2243C= c.1410C= (p.Asn470=) c.390C= (p.Asn130=) c.1062C= (p.Asn354=) n.697C= n.715C= n.1633C= c.1110C= (p.Asn370=) c.1260C= (p.Asn420=) c.1233C= (p.Asn411=) | |
| 7 | g.150952572G>T | CA369859810 | KCNH2 | n.708C>A n.303C>A n.2243C>A c.1410C>A (p.Asn470Lys) c.390C>A (p.Asn130Lys) c.1062C>A (p.Asn354Lys) n.697C>A n.715C>A n.1633C>A c.1110C>A (p.Asn370Lys) c.1260C>A (p.Asn420Lys) c.1233C>A (p.Asn411Lys) | |
| 7 | g.150952573T>A | CA369859811 | KCNH2 | n.707A>T n.302A>T n.2242A>T c.1409A>T (p.Asn470Ile) c.389A>T (p.Asn130Ile) c.1061A>T (p.Asn354Ile) n.696A>T n.714A>T n.1632A>T c.1109A>T (p.Asn370Ile) c.1259A>T (p.Asn420Ile) c.1232A>T (p.Asn411Ile) | |
| 7 | g.150952573T>C | CA369859812 | KCNH2 | n.707A>G n.302A>G n.2242A>G c.1409A>G (p.Asn470Ser) c.389A>G (p.Asn130Ser) c.1061A>G (p.Asn354Ser) n.696A>G n.714A>G n.1632A>G c.1109A>G (p.Asn370Ser) c.1259A>G (p.Asn420Ser) c.1232A>G (p.Asn411Ser) | |
| 7 | g.150952573T>G | CA369859813 | KCNH2 | n.707A>C n.302A>C n.2242A>C c.1409A>C (p.Asn470Thr) c.389A>C (p.Asn130Thr) c.1061A>C (p.Asn354Thr) n.696A>C n.714A>C n.1632A>C c.1109A>C (p.Asn370Thr) c.1259A>C (p.Asn420Thr) c.1232A>C (p.Asn411Thr) | |
| 7 | g.150952574T>A | CA369859814 | KCNH2 | n.706A>T n.301A>T n.2241A>T c.1408A>T (p.Asn470Tyr) c.388A>T (p.Asn130Tyr) c.1060A>T (p.Asn354Tyr) n.695A>T n.713A>T n.1631A>T c.1108A>T (p.Asn370Tyr) c.1258A>T (p.Asn420Tyr) c.1231A>T (p.Asn411Tyr) | |
| 7 | g.150952574T>C | CA004572 | KCNH2 | n.706A>G n.301A>G n.2241A>G c.1408A>G (p.Asn470Asp) c.388A>G (p.Asn130Asp) c.1060A>G (p.Asn354Asp) n.695A>G n.713A>G n.1631A>G c.1108A>G (p.Asn370Asp) c.1258A>G (p.Asn420Asp) c.1231A>G (p.Asn411Asp) | ClinVar dbSNP |
| 7 | g.150952574T>G | CA369859815 | KCNH2 | n.706A>C n.301A>C n.2241A>C c.1408A>C (p.Asn470His) c.388A>C (p.Asn130His) c.1060A>C (p.Asn354His) n.695A>C n.713A>C n.1631A>C c.1108A>C (p.Asn370His) c.1258A>C (p.Asn420His) c.1231A>C (p.Asn411His) | |
| 7 | g.150952574T= | CA1752411799 | KCNH2 | n.706A= n.301A= n.2241A= c.1408A= (p.Asn470=) c.388A= (p.Asn130=) c.1060A= (p.Asn354=) n.695A= n.713A= n.1631A= c.1108A= (p.Asn370=) c.1258A= (p.Asn420=) c.1231A= (p.Asn411=) | |
| 7 | g.150952575G>A | CA458871646 | KCNH2 | n.705C>T n.300C>T n.2240C>T c.1407C>T (p.Ile469=) c.387C>T (p.Ile129=) c.1059C>T (p.Ile353=) n.694C>T n.712C>T n.1630C>T c.1107C>T (p.Ile369=) c.1257C>T (p.Ile419=) c.1230C>T (p.Ile410=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.150952575G>C | CA369859816 | KCNH2 | n.705C>G n.300C>G n.2240C>G c.1407C>G (p.Ile469Met) c.387C>G (p.Ile129Met) c.1059C>G (p.Ile353Met) n.694C>G n.712C>G n.1630C>G c.1107C>G (p.Ile369Met) c.1257C>G (p.Ile419Met) c.1230C>G (p.Ile410Met) | gnomAD v4 |
| 7 | g.150952575G= | CA1752411803 | KCNH2 | n.705C= n.300C= n.2240C= c.1407C= (p.Ile469=) c.387C= (p.Ile129=) c.1059C= (p.Ile353=) n.694C= n.712C= n.1630C= c.1107C= (p.Ile369=) c.1257C= (p.Ile419=) c.1230C= (p.Ile410=) | |
| 7 | g.150952575G>T | CA027892 | KCNH2 | n.705C>A n.300C>A n.2240C>A c.1407C>A (p.Ile469=) c.387C>A (p.Ile129=) c.1059C>A (p.Ile353=) n.694C>A n.712C>A n.1630C>A c.1107C>A (p.Ile369=) c.1257C>A (p.Ile419=) c.1230C>A (p.Ile410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |