| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2768902G>A | CA005949 | KCNQ1 | c.1216G>A (p.Ala406Thr) c.1033G>A (p.Ala345Thr) c.1573G>A (p.Ala525Thr) c.1192G>A (p.Ala398Thr) c.679G>A (p.Ala227Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2768902G>C | CA379139004 | KCNQ1 | c.1216G>C (p.Ala406Pro) c.1033G>C (p.Ala345Pro) c.1573G>C (p.Ala525Pro) c.1192G>C (p.Ala398Pro) c.679G>C (p.Ala227Pro) | |
| 11 | g.2768902G= | CA1948310072 | KCNQ1 | c.1216G= (p.Ala406=) c.1033G= (p.Ala345=) c.1573G= (p.Ala525=) c.1192G= (p.Ala398=) c.679G= (p.Ala227=) | |
| 11 | g.2768902G>T | CA379139005 | KCNQ1 | c.1216G>T (p.Ala406Ser) c.1033G>T (p.Ala345Ser) c.1573G>T (p.Ala525Ser) c.1192G>T (p.Ala398Ser) c.679G>T (p.Ala227Ser) | |
| 11 | g.2768903C>A | CA379139006 | KCNQ1 | c.1217C>A (p.Ala406Asp) c.1034C>A (p.Ala345Asp) c.1574C>A (p.Ala525Asp) c.1193C>A (p.Ala398Asp) c.680C>A (p.Ala227Asp) | |
| 11 | g.2768903C= | CA1948310076 | KCNQ1 | c.1217C= (p.Ala406=) c.1034C= (p.Ala345=) c.1574C= (p.Ala525=) c.1193C= (p.Ala398=) c.680C= (p.Ala227=) | |
| 11 | g.2768903C>G | CA379139007 | KCNQ1 | c.1217C>G (p.Ala406Gly) c.1034C>G (p.Ala345Gly) c.1574C>G (p.Ala525Gly) c.1193C>G (p.Ala398Gly) c.680C>G (p.Ala227Gly) | |
| 11 | g.2768903C>T | CA005956 | KCNQ1 | c.1217C>T (p.Ala406Val) c.1034C>T (p.Ala345Val) c.1574C>T (p.Ala525Val) c.1193C>T (p.Ala398Val) c.680C>T (p.Ala227Val) | ClinVar dbSNP |
| 11 | g.2768904C>A | CA472459475 | KCNQ1 | c.1218C>A (p.Ala406=) c.1035C>A (p.Ala345=) c.1575C>A (p.Ala525=) c.1194C>A (p.Ala398=) c.681C>A (p.Ala227=) | |
| 11 | g.2768904C>G | CA472459476 | KCNQ1 | c.1218C>G (p.Ala406=) c.1035C>G (p.Ala345=) c.1575C>G (p.Ala525=) c.1194C>G (p.Ala398=) c.681C>G (p.Ala227=) | |
| 11 | g.2768904C>T | CA472459477 | KCNQ1 | c.1218C>T (p.Ala406=) c.1035C>T (p.Ala345=) c.1575C>T (p.Ala525=) c.1194C>T (p.Ala398=) c.681C>T (p.Ala227=) | |
| 11 | g.2768905A= | CA1948310081 | KCNQ1 | c.1219A= (p.Lys407=) c.1036A= (p.Lys346=) c.1576A= (p.Lys526=) c.1195A= (p.Lys399=) c.682A= (p.Lys228=) | |
| 11 | g.2768905A>C | CA030978 | KCNQ1 | c.1219A>C (p.Lys407Gln) c.1036A>C (p.Lys346Gln) c.1576A>C (p.Lys526Gln) c.1195A>C (p.Lys399Gln) c.682A>C (p.Lys228Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2768905A>G | CA005962 | KCNQ1 | c.1219A>G (p.Lys407Glu) c.1036A>G (p.Lys346Glu) c.1576A>G (p.Lys526Glu) c.1195A>G (p.Lys399Glu) c.682A>G (p.Lys228Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2768905A>T | CA379139008 | KCNQ1 | c.1219A>T (p.Lys407Ter) c.1036A>T (p.Lys346Ter) c.1576A>T (p.Lys526Ter) c.1195A>T (p.Lys399Ter) c.682A>T (p.Lys228Ter) | |
| 11 | g.2768906del | CA2574728428 | KCNQ1 | c.1220del (p.Lys407ArgfsTer?) c.1037del (p.Lys346ArgfsTer?) c.1577del (p.Lys526ArgfsTer?) c.1196del (p.Lys399ArgfsTer?) c.683del (p.Lys228ArgfsTer?) | |
| 11 | g.2768906A>C | CA379139009 | KCNQ1 | c.1220A>C (p.Lys407Thr) c.1037A>C (p.Lys346Thr) c.1577A>C (p.Lys526Thr) c.1196A>C (p.Lys399Thr) c.683A>C (p.Lys228Thr) | |
| 11 | g.2768906A>G | CA379139010 | KCNQ1 | c.1220A>G (p.Lys407Arg) c.1037A>G (p.Lys346Arg) c.1577A>G (p.Lys526Arg) c.1196A>G (p.Lys399Arg) c.683A>G (p.Lys228Arg) | |
| 11 | g.2768906A>T | CA379139011 | KCNQ1 | c.1220A>T (p.Lys407Met) c.1037A>T (p.Lys346Met) c.1577A>T (p.Lys526Met) c.1196A>T (p.Lys399Met) c.683A>T (p.Lys228Met) | |
| 11 | g.2768907G>A | CA472459481 | KCNQ1 | c.1221G>A (p.Lys407=) c.1038G>A (p.Lys346=) c.1578G>A (p.Lys526=) c.1197G>A (p.Lys399=) c.684G>A (p.Lys228=) | dbSNP gnomAD v4 |
| 11 | g.2768907G>C | CA379139012 | KCNQ1 | c.1221G>C (p.Lys407Asn) c.1038G>C (p.Lys346Asn) c.1578G>C (p.Lys526Asn) c.1197G>C (p.Lys399Asn) c.684G>C (p.Lys228Asn) | |
| 11 | g.2768907G= | CA1948310087 | KCNQ1 | c.1221G= (p.Lys407=) c.1038G= (p.Lys346=) c.1578G= (p.Lys526=) c.1197G= (p.Lys399=) c.684G= (p.Lys228=) | |
| 11 | g.2768907G>T | CA379139013 | KCNQ1 | c.1221G>T (p.Lys407Asn) c.1038G>T (p.Lys346Asn) c.1578G>T (p.Lys526Asn) c.1197G>T (p.Lys399Asn) c.684G>T (p.Lys228Asn) | ClinVar dbSNP |
| 11 | g.2768908A>C | CA379139014 | KCNQ1 | c.1222A>C (p.Lys408Gln) c.1039A>C (p.Lys347Gln) c.1579A>C (p.Lys527Gln) c.1198A>C (p.Lys400Gln) c.685A>C (p.Lys229Gln) | |
| 11 | g.2768908A>G | CA379139015 | KCNQ1 | c.1222A>G (p.Lys408Glu) c.1039A>G (p.Lys347Glu) c.1579A>G (p.Lys527Glu) c.1198A>G (p.Lys400Glu) c.685A>G (p.Lys229Glu) | |
| 11 | g.2768908A>T | CA379139016 | KCNQ1 | c.1222A>T (p.Lys408Ter) c.1039A>T (p.Lys347Ter) c.1579A>T (p.Lys527Ter) c.1198A>T (p.Lys400Ter) c.685A>T (p.Lys229Ter) | |
| 11 | g.2768909A>C | CA379139017 | KCNQ1 | c.1223A>C (p.Lys408Thr) c.1040A>C (p.Lys347Thr) c.1580A>C (p.Lys527Thr) c.1199A>C (p.Lys400Thr) c.686A>C (p.Lys229Thr) | |
| 11 | g.2768909A>G | CA379139018 | KCNQ1 | c.1223A>G (p.Lys408Arg) c.1040A>G (p.Lys347Arg) c.1580A>G (p.Lys527Arg) c.1199A>G (p.Lys400Arg) c.686A>G (p.Lys229Arg) | |
| 11 | g.2768909A>T | CA379139019 | KCNQ1 | c.1223A>T (p.Lys408Met) c.1040A>T (p.Lys347Met) c.1580A>T (p.Lys527Met) c.1199A>T (p.Lys400Met) c.686A>T (p.Lys229Met) | |
| 11 | g.2768910G>A | CA472459483 | KCNQ1 | c.1224G>A (p.Lys408=) c.1041G>A (p.Lys347=) c.1581G>A (p.Lys527=) c.1200G>A (p.Lys400=) c.687G>A (p.Lys229=) | |
| 11 | g.2768910G>C | CA379139020 | KCNQ1 | c.1224G>C (p.Lys408Asn) c.1041G>C (p.Lys347Asn) c.1581G>C (p.Lys527Asn) c.1200G>C (p.Lys400Asn) c.687G>C (p.Lys229Asn) | |
| 11 | g.2768910G>T | CA379139021 | KCNQ1 | c.1224G>T (p.Lys408Asn) c.1041G>T (p.Lys347Asn) c.1581G>T (p.Lys527Asn) c.1200G>T (p.Lys400Asn) c.687G>T (p.Lys229Asn) | |
| 11 | g.2768911A>C | CA379139022 | KCNQ1 | c.1225A>C (p.Lys409Gln) c.1042A>C (p.Lys348Gln) c.1582A>C (p.Lys528Gln) c.1201A>C (p.Lys401Gln) c.688A>C (p.Lys230Gln) | gnomAD v4 |
| 11 | g.2768911A>G | CA379139024 | KCNQ1 | c.1225A>G (p.Lys409Glu) c.1042A>G (p.Lys348Glu) c.1582A>G (p.Lys528Glu) c.1201A>G (p.Lys401Glu) c.688A>G (p.Lys230Glu) | |
| 11 | g.2768911A>T | CA379139023 | KCNQ1 | c.1225A>T (p.Lys409Ter) c.1042A>T (p.Lys348Ter) c.1582A>T (p.Lys528Ter) c.1201A>T (p.Lys401Ter) c.688A>T (p.Lys230Ter) | |
| 11 | g.2768913del | CA2612008636 | KCNQ1 | c.1227del (p.Lys409AsnfsTer?) c.1044del (p.Lys348AsnfsTer?) c.1584del (p.Lys528AsnfsTer?) c.1203del (p.Lys401AsnfsTer?) c.690del (p.Lys230AsnfsTer?) | gnomAD v4 |
| 11 | g.2768912A= | CA1948310090 | KCNQ1 | c.1226A= (p.Lys409=) c.1043A= (p.Lys348=) c.1583A= (p.Lys528=) c.1202A= (p.Lys401=) c.689A= (p.Lys230=) | |
| 11 | g.2768912A>C | CA379139025 | KCNQ1 | c.1226A>C (p.Lys409Thr) c.1043A>C (p.Lys348Thr) c.1583A>C (p.Lys528Thr) c.1202A>C (p.Lys401Thr) c.689A>C (p.Lys230Thr) | |
| 11 | g.2768912A>G | CA379139027 | KCNQ1 | c.1226A>G (p.Lys409Arg) c.1043A>G (p.Lys348Arg) c.1583A>G (p.Lys528Arg) c.1202A>G (p.Lys401Arg) c.689A>G (p.Lys230Arg) | ClinVar dbSNP |
| 11 | g.2768912A>T | CA379139026 | KCNQ1 | c.1226A>T (p.Lys409Ile) c.1043A>T (p.Lys348Ile) c.1583A>T (p.Lys528Ile) c.1202A>T (p.Lys401Ile) c.689A>T (p.Lys230Ile) | |
| 11 | g.2768912_2768913insTA | CA2580082636 | KCNQ1 | c.1226_1227insTA (p.Lys409AsnfsTer?) c.1043_1044insTA (p.Lys348AsnfsTer?) c.1583_1584insTA (p.Lys528AsnfsTer?) c.1202_1203insTA (p.Lys401AsnfsTer?) c.689_690insTA (p.Lys230AsnfsTer?) | ClinVar |
| 11 | g.2768913A>C | CA379139028 | KCNQ1 | c.1227A>C (p.Lys409Asn) c.1044A>C (p.Lys348Asn) c.1584A>C (p.Lys528Asn) c.1203A>C (p.Lys401Asn) c.690A>C (p.Lys230Asn) | |
| 11 | g.2768913A>G | CA472459488 | KCNQ1 | c.1227A>G (p.Lys409=) c.1044A>G (p.Lys348=) c.1584A>G (p.Lys528=) c.1203A>G (p.Lys401=) c.690A>G (p.Lys230=) | |
| 11 | g.2768913A>T | CA379139029 | KCNQ1 | c.1227A>T (p.Lys409Asn) c.1044A>T (p.Lys348Asn) c.1584A>T (p.Lys528Asn) c.1203A>T (p.Lys401Asn) c.690A>T (p.Lys230Asn) | |
| 11 | g.2768914T>A | CA379139030 | KCNQ1 | c.1228T>A (p.Phe410Ile) c.1045T>A (p.Phe349Ile) c.1585T>A (p.Phe529Ile) c.1204T>A (p.Phe402Ile) c.691T>A (p.Phe231Ile) | |
| 11 | g.2768914T>C | CA379139031 | KCNQ1 | c.1228T>C (p.Phe410Leu) c.1045T>C (p.Phe349Leu) c.1585T>C (p.Phe529Leu) c.1204T>C (p.Phe402Leu) c.691T>C (p.Phe231Leu) | |
| 11 | g.2768914T>G | CA379139032 | KCNQ1 | c.1228T>G (p.Phe410Val) c.1045T>G (p.Phe349Val) c.1585T>G (p.Phe529Val) c.1204T>G (p.Phe402Val) c.691T>G (p.Phe231Val) | |
| 11 | g.2768915T>A | CA379139033 | KCNQ1 | c.1229T>A (p.Phe410Tyr) c.1046T>A (p.Phe349Tyr) c.1586T>A (p.Phe529Tyr) c.1205T>A (p.Phe402Tyr) c.692T>A (p.Phe231Tyr) | |
| 11 | g.2768915T>C | CA379139034 | KCNQ1 | c.1229T>C (p.Phe410Ser) c.1046T>C (p.Phe349Ser) c.1586T>C (p.Phe529Ser) c.1205T>C (p.Phe402Ser) c.692T>C (p.Phe231Ser) | |
| 11 | g.2768915T>G | CA379139035 | KCNQ1 | c.1229T>G (p.Phe410Cys) c.1046T>G (p.Phe349Cys) c.1586T>G (p.Phe529Cys) c.1205T>G (p.Phe402Cys) c.692T>G (p.Phe231Cys) |