| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63414183del | CA16620963 | KCNQ2 | c.1485del (p.Gly496GlufsTer15) c.1539del (p.Gly514GlufsTer15) c.936del (p.Gly313GlufsTer15) c.1446del (p.Gly483GlufsTer15) c.1107del (p.Gly370GlufsTer15) c.1455del (p.Gly486GlufsTer15) c.1419del (p.Gly474GlufsTer15) c.596del c.147del (p.Gly50GlufsTer15) c.1536del (p.Gly513GlufsTer15) c.1509del (p.Gly504GlufsTer15) c.1413del (p.Gly472GlufsTer15) c.1020del (p.Gly341GlufsTer15) c.1482del (p.Gly495GlufsTer15) c.1416del (p.Gly473GlufsTer15) c.447del (p.Gly150GlufsTer15) | ClinVar dbSNP |
| 20 | g.63414182_63414183delinsAT | CA2695230079 | KCNQ2 | c.1482_1483delinsAT (p.Pro495Ser) c.1536_1537delinsAT (p.Pro513Ser) c.933_934delinsAT (p.Pro312Ser) c.1443_1444delinsAT (p.Pro482Ser) c.1104_1105delinsAT (p.Pro369Ser) c.1452_1453delinsAT (p.Pro485Ser) c.1416_1417delinsAT (p.Pro473Ser) c.593_594delinsAT c.144_145delinsAT (p.Pro49Ser) c.1533_1534delinsAT (p.Pro512Ser) c.1506_1507delinsAT (p.Pro503Ser) c.1410_1411delinsAT (p.Pro471Ser) c.1017_1018delinsAT (p.Pro340Ser) c.1479_1480delinsAT (p.Pro494Ser) c.1413_1414delinsAT (p.Pro472Ser) c.444_445delinsAT (p.Pro149Ser) | |
| 20 | g.63414183G>A | CA511203947 | KCNQ2 | c.1482C>T (p.Leu494=) c.1536C>T (p.Leu512=) c.933C>T (p.Leu311=) c.1443C>T (p.Leu481=) c.1104C>T (p.Leu368=) c.1452C>T (p.Leu484=) c.1416C>T (p.Leu472=) c.593C>T c.144C>T (p.Leu48=) c.1533C>T (p.Leu511=) c.1506C>T (p.Leu502=) c.1410C>T (p.Leu470=) c.1017C>T (p.Leu339=) c.1479C>T (p.Leu493=) c.1413C>T (p.Leu471=) c.444C>T (p.Leu148=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63414183G>C | CA511203949 | KCNQ2 | c.1482C>G (p.Leu494=) c.1536C>G (p.Leu512=) c.933C>G (p.Leu311=) c.1443C>G (p.Leu481=) c.1104C>G (p.Leu368=) c.1452C>G (p.Leu484=) c.1416C>G (p.Leu472=) c.593C>G c.144C>G (p.Leu48=) c.1533C>G (p.Leu511=) c.1506C>G (p.Leu502=) c.1410C>G (p.Leu470=) c.1017C>G (p.Leu339=) c.1479C>G (p.Leu493=) c.1413C>G (p.Leu471=) c.444C>G (p.Leu148=) | dbSNP gnomAD v4 |
| 20 | g.63414183G= | CA2374778335 | KCNQ2 | c.1482C= (p.Leu494=) c.1536C= (p.Leu512=) c.933C= (p.Leu311=) c.1443C= (p.Leu481=) c.1104C= (p.Leu368=) c.1452C= (p.Leu484=) c.1416C= (p.Leu472=) c.593C= c.144C= (p.Leu48=) c.1533C= (p.Leu511=) c.1506C= (p.Leu502=) c.1410C= (p.Leu470=) c.1017C= (p.Leu339=) c.1479C= (p.Leu493=) c.1413C= (p.Leu471=) c.444C= (p.Leu148=) | |
| 20 | g.63414183G>T | CA511203948 | KCNQ2 | c.1482C>A (p.Leu494=) c.1536C>A (p.Leu512=) c.933C>A (p.Leu311=) c.1443C>A (p.Leu481=) c.1104C>A (p.Leu368=) c.1452C>A (p.Leu484=) c.1416C>A (p.Leu472=) c.593C>A c.144C>A (p.Leu48=) c.1533C>A (p.Leu511=) c.1506C>A (p.Leu502=) c.1410C>A (p.Leu470=) c.1017C>A (p.Leu339=) c.1479C>A (p.Leu493=) c.1413C>A (p.Leu471=) c.444C>A (p.Leu148=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63414184A>C | CA409645773 | KCNQ2 | c.1481T>G (p.Leu494Arg) c.1535T>G (p.Leu512Arg) c.932T>G (p.Leu311Arg) c.1442T>G (p.Leu481Arg) c.1103T>G (p.Leu368Arg) c.1451T>G (p.Leu484Arg) c.1415T>G (p.Leu472Arg) c.592T>G c.143T>G (p.Leu48Arg) c.1532T>G (p.Leu511Arg) c.1505T>G (p.Leu502Arg) c.1409T>G (p.Leu470Arg) c.1016T>G (p.Leu339Arg) c.1478T>G (p.Leu493Arg) c.1412T>G (p.Leu471Arg) c.443T>G (p.Leu148Arg) | |
| 20 | g.63414184A>G | CA409645771 | KCNQ2 | c.1481T>C (p.Leu494Pro) c.1535T>C (p.Leu512Pro) c.932T>C (p.Leu311Pro) c.1442T>C (p.Leu481Pro) c.1103T>C (p.Leu368Pro) c.1451T>C (p.Leu484Pro) c.1415T>C (p.Leu472Pro) c.592T>C c.143T>C (p.Leu48Pro) c.1532T>C (p.Leu511Pro) c.1505T>C (p.Leu502Pro) c.1409T>C (p.Leu470Pro) c.1016T>C (p.Leu339Pro) c.1478T>C (p.Leu493Pro) c.1412T>C (p.Leu471Pro) c.443T>C (p.Leu148Pro) | |
| 20 | g.63414184A>T | CA409645768 | KCNQ2 | c.1481T>A (p.Leu494His) c.1535T>A (p.Leu512His) c.932T>A (p.Leu311His) c.1442T>A (p.Leu481His) c.1103T>A (p.Leu368His) c.1451T>A (p.Leu484His) c.1415T>A (p.Leu472His) c.592T>A c.143T>A (p.Leu48His) c.1532T>A (p.Leu511His) c.1505T>A (p.Leu502His) c.1409T>A (p.Leu470His) c.1016T>A (p.Leu339His) c.1478T>A (p.Leu493His) c.1412T>A (p.Leu471His) c.443T>A (p.Leu148His) | |
| 20 | g.63414185G>A | CA409645777 | KCNQ2 | c.1480C>T (p.Leu494Phe) c.1534C>T (p.Leu512Phe) c.931C>T (p.Leu311Phe) c.1441C>T (p.Leu481Phe) c.1102C>T (p.Leu368Phe) c.1450C>T (p.Leu484Phe) c.1414C>T (p.Leu472Phe) c.591C>T c.142C>T (p.Leu48Phe) c.1531C>T (p.Leu511Phe) c.1504C>T (p.Leu502Phe) c.1408C>T (p.Leu470Phe) c.1015C>T (p.Leu339Phe) c.1477C>T (p.Leu493Phe) c.1411C>T (p.Leu471Phe) c.442C>T (p.Leu148Phe) | ClinVar dbSNP |
| 20 | g.63414185G>C | CA409645784 | KCNQ2 | c.1480C>G (p.Leu494Val) c.1534C>G (p.Leu512Val) c.931C>G (p.Leu311Val) c.1441C>G (p.Leu481Val) c.1102C>G (p.Leu368Val) c.1450C>G (p.Leu484Val) c.1414C>G (p.Leu472Val) c.591C>G c.142C>G (p.Leu48Val) c.1531C>G (p.Leu511Val) c.1504C>G (p.Leu502Val) c.1408C>G (p.Leu470Val) c.1015C>G (p.Leu339Val) c.1477C>G (p.Leu493Val) c.1411C>G (p.Leu471Val) c.442C>G (p.Leu148Val) | |
| 20 | g.63414185G= | CA2374778336 | KCNQ2 | c.1480C= (p.Leu494=) c.1534C= (p.Leu512=) c.931C= (p.Leu311=) c.1441C= (p.Leu481=) c.1102C= (p.Leu368=) c.1450C= (p.Leu484=) c.1414C= (p.Leu472=) c.591C= c.142C= (p.Leu48=) c.1531C= (p.Leu511=) c.1504C= (p.Leu502=) c.1408C= (p.Leu470=) c.1015C= (p.Leu339=) c.1477C= (p.Leu493=) c.1411C= (p.Leu471=) c.442C= (p.Leu148=) | |
| 20 | g.63414185G>T | CA409645781 | KCNQ2 | c.1480C>A (p.Leu494Ile) c.1534C>A (p.Leu512Ile) c.931C>A (p.Leu311Ile) c.1441C>A (p.Leu481Ile) c.1102C>A (p.Leu368Ile) c.1450C>A (p.Leu484Ile) c.1414C>A (p.Leu472Ile) c.591C>A c.142C>A (p.Leu48Ile) c.1531C>A (p.Leu511Ile) c.1504C>A (p.Leu502Ile) c.1408C>A (p.Leu470Ile) c.1015C>A (p.Leu339Ile) c.1477C>A (p.Leu493Ile) c.1411C>A (p.Leu471Ile) c.442C>A (p.Leu148Ile) | gnomAD v4 |
| 20 | g.63414186del | CA2580098397 | KCNQ2 | c.1480del (p.Leu494SerfsTer17) c.1534del (p.Leu512SerfsTer17) c.931del (p.Leu311SerfsTer17) c.1441del (p.Leu481SerfsTer17) c.1102del (p.Leu368SerfsTer17) c.1450del (p.Leu484SerfsTer17) c.1414del (p.Leu472SerfsTer17) c.591del c.142del (p.Leu48SerfsTer17) c.1531del (p.Leu511SerfsTer17) c.1504del (p.Leu502SerfsTer17) c.1408del (p.Leu470SerfsTer17) c.1015del (p.Leu339SerfsTer17) c.1477del (p.Leu493SerfsTer17) c.1411del (p.Leu471SerfsTer17) c.442del (p.Leu148SerfsTer17) | ClinVar |
| 20 | g.63414186G>A | CA511203951 | KCNQ2 | c.1479C>T (p.Ser493=) c.1533C>T (p.Ser511=) c.930C>T (p.Ser310=) c.1440C>T (p.Ser480=) c.1101C>T (p.Ser367=) c.1449C>T (p.Ser483=) c.1413C>T (p.Ser471=) c.590C>T c.141C>T (p.Ser47=) c.1530C>T (p.Ser510=) c.1503C>T (p.Ser501=) c.1407C>T (p.Ser469=) c.1014C>T (p.Ser338=) c.1476C>T (p.Ser492=) c.1410C>T (p.Ser470=) c.441C>T (p.Ser147=) | gnomAD v4 |
| 20 | g.63414186G>C | CA409645788 | KCNQ2 | c.1479C>G (p.Ser493Arg) c.1533C>G (p.Ser511Arg) c.930C>G (p.Ser310Arg) c.1440C>G (p.Ser480Arg) c.1101C>G (p.Ser367Arg) c.1449C>G (p.Ser483Arg) c.1413C>G (p.Ser471Arg) c.590C>G c.141C>G (p.Ser47Arg) c.1530C>G (p.Ser510Arg) c.1503C>G (p.Ser501Arg) c.1407C>G (p.Ser469Arg) c.1014C>G (p.Ser338Arg) c.1476C>G (p.Ser492Arg) c.1410C>G (p.Ser470Arg) c.441C>G (p.Ser147Arg) | |
| 20 | g.63414186G>T | CA409645795 | KCNQ2 | c.1479C>A (p.Ser493Arg) c.1533C>A (p.Ser511Arg) c.930C>A (p.Ser310Arg) c.1440C>A (p.Ser480Arg) c.1101C>A (p.Ser367Arg) c.1449C>A (p.Ser483Arg) c.1413C>A (p.Ser471Arg) c.590C>A c.141C>A (p.Ser47Arg) c.1530C>A (p.Ser510Arg) c.1503C>A (p.Ser501Arg) c.1407C>A (p.Ser469Arg) c.1014C>A (p.Ser338Arg) c.1476C>A (p.Ser492Arg) c.1410C>A (p.Ser470Arg) c.441C>A (p.Ser147Arg) | |
| 20 | g.63414187C>A | CA409645802 | KCNQ2 | c.1478G>T (p.Ser493Ile) c.1532G>T (p.Ser511Ile) c.929G>T (p.Ser310Ile) c.1439G>T (p.Ser480Ile) c.1100G>T (p.Ser367Ile) c.1448G>T (p.Ser483Ile) c.1412G>T (p.Ser471Ile) c.589G>T c.140G>T (p.Ser47Ile) c.1529G>T (p.Ser510Ile) c.1502G>T (p.Ser501Ile) c.1406G>T (p.Ser469Ile) c.1013G>T (p.Ser338Ile) c.1475G>T (p.Ser492Ile) c.1409G>T (p.Ser470Ile) c.440G>T (p.Ser147Ile) | |
| 20 | g.63414187C>G | CA409645808 | KCNQ2 | c.1478G>C (p.Ser493Thr) c.1532G>C (p.Ser511Thr) c.929G>C (p.Ser310Thr) c.1439G>C (p.Ser480Thr) c.1100G>C (p.Ser367Thr) c.1448G>C (p.Ser483Thr) c.1412G>C (p.Ser471Thr) c.589G>C c.140G>C (p.Ser47Thr) c.1529G>C (p.Ser510Thr) c.1502G>C (p.Ser501Thr) c.1406G>C (p.Ser469Thr) c.1013G>C (p.Ser338Thr) c.1475G>C (p.Ser492Thr) c.1409G>C (p.Ser470Thr) c.440G>C (p.Ser147Thr) | |
| 20 | g.63414187C>T | CA409645805 | KCNQ2 | c.1478G>A (p.Ser493Asn) c.1532G>A (p.Ser511Asn) c.929G>A (p.Ser310Asn) c.1439G>A (p.Ser480Asn) c.1100G>A (p.Ser367Asn) c.1448G>A (p.Ser483Asn) c.1412G>A (p.Ser471Asn) c.589G>A c.140G>A (p.Ser47Asn) c.1529G>A (p.Ser510Asn) c.1502G>A (p.Ser501Asn) c.1406G>A (p.Ser469Asn) c.1013G>A (p.Ser338Asn) c.1475G>A (p.Ser492Asn) c.1409G>A (p.Ser470Asn) c.440G>A (p.Ser147Asn) | |
| 20 | g.63414187dup | CA2697547457 | KCNQ2 | c.1478dup (p.Ser493ArgfsTer10) c.1532dup (p.Ser511ArgfsTer10) c.929dup (p.Ser310ArgfsTer10) c.1439dup (p.Ser480ArgfsTer10) c.1100dup (p.Ser367ArgfsTer10) c.1448dup (p.Ser483ArgfsTer10) c.1412dup (p.Ser471ArgfsTer10) c.589dup c.140dup (p.Ser47ArgfsTer10) c.1529dup (p.Ser510ArgfsTer10) c.1502dup (p.Ser501ArgfsTer10) c.1406dup (p.Ser469ArgfsTer10) c.1013dup (p.Ser338ArgfsTer10) c.1475dup (p.Ser492ArgfsTer10) c.1409dup (p.Ser470ArgfsTer10) c.440dup (p.Ser147ArgfsTer10) | ClinVar |
| 20 | g.63414188T>A | CA409645811 | KCNQ2 | c.1477A>T (p.Ser493Cys) c.1531A>T (p.Ser511Cys) c.928A>T (p.Ser310Cys) c.1438A>T (p.Ser480Cys) c.1099A>T (p.Ser367Cys) c.1447A>T (p.Ser483Cys) c.1411A>T (p.Ser471Cys) c.588A>T c.139A>T (p.Ser47Cys) c.1528A>T (p.Ser510Cys) c.1501A>T (p.Ser501Cys) c.1405A>T (p.Ser469Cys) c.1012A>T (p.Ser338Cys) c.1474A>T (p.Ser492Cys) c.1408A>T (p.Ser470Cys) c.439A>T (p.Ser147Cys) | |
| 20 | g.63414188T>C | CA409645816 | KCNQ2 | c.1477A>G (p.Ser493Gly) c.1531A>G (p.Ser511Gly) c.928A>G (p.Ser310Gly) c.1438A>G (p.Ser480Gly) c.1099A>G (p.Ser367Gly) c.1447A>G (p.Ser483Gly) c.1411A>G (p.Ser471Gly) c.588A>G c.139A>G (p.Ser47Gly) c.1528A>G (p.Ser510Gly) c.1501A>G (p.Ser501Gly) c.1405A>G (p.Ser469Gly) c.1012A>G (p.Ser338Gly) c.1474A>G (p.Ser492Gly) c.1408A>G (p.Ser470Gly) c.439A>G (p.Ser147Gly) | COSMIC |
| 20 | g.63414188T>G | CA409645815 | KCNQ2 | c.1477A>C (p.Ser493Arg) c.1531A>C (p.Ser511Arg) c.928A>C (p.Ser310Arg) c.1438A>C (p.Ser480Arg) c.1099A>C (p.Ser367Arg) c.1447A>C (p.Ser483Arg) c.1411A>C (p.Ser471Arg) c.588A>C c.139A>C (p.Ser47Arg) c.1528A>C (p.Ser510Arg) c.1501A>C (p.Ser501Arg) c.1405A>C (p.Ser469Arg) c.1012A>C (p.Ser338Arg) c.1474A>C (p.Ser492Arg) c.1408A>C (p.Ser470Arg) c.439A>C (p.Ser147Arg) | |
| 20 | g.63414189T>A | CA511203952 | KCNQ2 | c.1476A>T (p.Ala492=) c.1530A>T (p.Ala510=) c.927A>T (p.Ala309=) c.1437A>T (p.Ala479=) c.1098A>T (p.Ala366=) c.1446A>T (p.Ala482=) c.1410A>T (p.Ala470=) c.587A>T c.138A>T (p.Ala46=) c.1527A>T (p.Ala509=) c.1500A>T (p.Ala500=) c.1404A>T (p.Ala468=) c.1011A>T (p.Ala337=) c.1473A>T (p.Ala491=) c.1407A>T (p.Ala469=) c.438A>T (p.Ala146=) | |
| 20 | g.63414189T>C | CA511203953 | KCNQ2 | c.1476A>G (p.Ala492=) c.1530A>G (p.Ala510=) c.927A>G (p.Ala309=) c.1437A>G (p.Ala479=) c.1098A>G (p.Ala366=) c.1446A>G (p.Ala482=) c.1410A>G (p.Ala470=) c.587A>G c.138A>G (p.Ala46=) c.1527A>G (p.Ala509=) c.1500A>G (p.Ala500=) c.1404A>G (p.Ala468=) c.1011A>G (p.Ala337=) c.1473A>G (p.Ala491=) c.1407A>G (p.Ala469=) c.438A>G (p.Ala146=) | |
| 20 | g.63414189T>G | CA511203954 | KCNQ2 | c.1476A>C (p.Ala492=) c.1530A>C (p.Ala510=) c.927A>C (p.Ala309=) c.1437A>C (p.Ala479=) c.1098A>C (p.Ala366=) c.1446A>C (p.Ala482=) c.1410A>C (p.Ala470=) c.587A>C c.138A>C (p.Ala46=) c.1527A>C (p.Ala509=) c.1500A>C (p.Ala500=) c.1404A>C (p.Ala468=) c.1011A>C (p.Ala337=) c.1473A>C (p.Ala491=) c.1407A>C (p.Ala469=) c.438A>C (p.Ala146=) | |
| 20 | g.63414190G>A | CA409645817 | KCNQ2 | c.1475C>T (p.Ala492Val) c.1529C>T (p.Ala510Val) c.926C>T (p.Ala309Val) c.1436C>T (p.Ala479Val) c.1097C>T (p.Ala366Val) c.1445C>T (p.Ala482Val) c.1409C>T (p.Ala470Val) c.586C>T c.137C>T (p.Ala46Val) c.1526C>T (p.Ala509Val) c.1499C>T (p.Ala500Val) c.1403C>T (p.Ala468Val) c.1010C>T (p.Ala337Val) c.1472C>T (p.Ala491Val) c.1406C>T (p.Ala469Val) c.437C>T (p.Ala146Val) | gnomAD v4 |
| 20 | g.63414190G>C | CA409645821 | KCNQ2 | c.1475C>G (p.Ala492Gly) c.1529C>G (p.Ala510Gly) c.926C>G (p.Ala309Gly) c.1436C>G (p.Ala479Gly) c.1097C>G (p.Ala366Gly) c.1445C>G (p.Ala482Gly) c.1409C>G (p.Ala470Gly) c.586C>G c.137C>G (p.Ala46Gly) c.1526C>G (p.Ala509Gly) c.1499C>G (p.Ala500Gly) c.1403C>G (p.Ala468Gly) c.1010C>G (p.Ala337Gly) c.1472C>G (p.Ala491Gly) c.1406C>G (p.Ala469Gly) c.437C>G (p.Ala146Gly) | dbSNP gnomAD v4 |
| 20 | g.63414190G= | CA2374778337 | KCNQ2 | c.1475C= (p.Ala492=) c.1529C= (p.Ala510=) c.926C= (p.Ala309=) c.1436C= (p.Ala479=) c.1097C= (p.Ala366=) c.1445C= (p.Ala482=) c.1409C= (p.Ala470=) c.586C= c.137C= (p.Ala46=) c.1526C= (p.Ala509=) c.1499C= (p.Ala500=) c.1403C= (p.Ala468=) c.1010C= (p.Ala337=) c.1472C= (p.Ala491=) c.1406C= (p.Ala469=) c.437C= (p.Ala146=) | |
| 20 | g.63414190G>T | CA409645819 | KCNQ2 | c.1475C>A (p.Ala492Glu) c.1529C>A (p.Ala510Glu) c.926C>A (p.Ala309Glu) c.1436C>A (p.Ala479Glu) c.1097C>A (p.Ala366Glu) c.1445C>A (p.Ala482Glu) c.1409C>A (p.Ala470Glu) c.586C>A c.137C>A (p.Ala46Glu) c.1526C>A (p.Ala509Glu) c.1499C>A (p.Ala500Glu) c.1403C>A (p.Ala468Glu) c.1010C>A (p.Ala337Glu) c.1472C>A (p.Ala491Glu) c.1406C>A (p.Ala469Glu) c.437C>A (p.Ala146Glu) | |
| 20 | g.63414190_63414191delinsGC | CA2374778338 | KCNQ2 | c.1474_1475delinsGC (p.Ala492=) c.1528_1529delinsGC (p.Ala510=) c.925_926delinsGC (p.Ala309=) c.1436-1_1436delinsGC c.1096_1097delinsGC (p.Ala366=) c.1444_1445delinsGC (p.Ala482=) c.1408_1409delinsGC (p.Ala470=) c.586-1_586delinsGC c.136_137delinsGC (p.Ala46=) c.1526-1_1526delinsGC c.1498_1499delinsGC (p.Ala500=) c.1402_1403delinsGC (p.Ala468=) c.1009_1010delinsGC (p.Ala337=) c.1472-1_1472delinsGC c.1405_1406delinsGC (p.Ala469=) c.436_437delinsGC (p.Ala146=) | |
| 20 | g.63414191del | CA1139666778 | KCNQ2 | c.1474del (p.Ala492GlnfsTer19) c.1528del (p.Ala510GlnfsTer19) c.925del (p.Ala309GlnfsTer19) c.1436-1del (n.1436-1del) c.1096del (p.Ala366GlnfsTer19) c.1444del (p.Ala482GlnfsTer19) c.1408del (p.Ala470GlnfsTer19) c.586-1del c.136del (p.Ala46GlnfsTer19) c.1526-1del (n.1526-1del) c.1498del (p.Ala500GlnfsTer19) c.1402del (p.Ala468GlnfsTer19) c.1009del (p.Ala337GlnfsTer19) c.1472-1del (n.1472-1del) c.1405del (p.Ala469GlnfsTer19) c.436del (p.Ala146GlnfsTer19) | ClinVar dbSNP |
| 20 | g.63414191C>A | CA409645823 | KCNQ2 | c.1474G>T (p.Ala492Ser) c.1528G>T (p.Ala510Ser) c.925G>T (p.Ala309Ser) c.1436-1G>T (n.1436-1G>T) c.1096G>T (p.Ala366Ser) c.1444G>T (p.Ala482Ser) c.1408G>T (p.Ala470Ser) c.586-1G>T c.136G>T (p.Ala46Ser) c.1526-1G>T (n.1526-1G>T) c.1498G>T (p.Ala500Ser) c.1402G>T (p.Ala468Ser) c.1009G>T (p.Ala337Ser) c.1472-1G>T (n.1472-1G>T) c.1405G>T (p.Ala469Ser) c.436G>T (p.Ala146Ser) | |
| 20 | g.63414191C>G | CA409645825 | KCNQ2 | c.1474G>C (p.Ala492Pro) c.1528G>C (p.Ala510Pro) c.925G>C (p.Ala309Pro) c.1436-1G>C (n.1436-1G>C) c.1096G>C (p.Ala366Pro) c.1444G>C (p.Ala482Pro) c.1408G>C (p.Ala470Pro) c.586-1G>C c.136G>C (p.Ala46Pro) c.1526-1G>C (n.1526-1G>C) c.1498G>C (p.Ala500Pro) c.1402G>C (p.Ala468Pro) c.1009G>C (p.Ala337Pro) c.1472-1G>C (n.1472-1G>C) c.1405G>C (p.Ala469Pro) c.436G>C (p.Ala146Pro) | |
| 20 | g.63414191C>T | CA409645830 | KCNQ2 | c.1474G>A (p.Ala492Thr) c.1528G>A (p.Ala510Thr) c.925G>A (p.Ala309Thr) c.1436-1G>A (n.1436-1G>A) c.1096G>A (p.Ala366Thr) c.1444G>A (p.Ala482Thr) c.1408G>A (p.Ala470Thr) c.586-1G>A c.136G>A (p.Ala46Thr) c.1526-1G>A (n.1526-1G>A) c.1498G>A (p.Ala500Thr) c.1402G>A (p.Ala468Thr) c.1009G>A (p.Ala337Thr) c.1472-1G>A (n.1472-1G>A) c.1405G>A (p.Ala469Thr) c.436G>A (p.Ala146Thr) | gnomAD v4 |
| 20 | g.63414192T>A | CA409645834 | KCNQ2 | c.1473A>T (p.Glu491Asp) c.1527A>T (p.Glu509Asp) c.924A>T (p.Glu308Asp) c.1436-2A>T (n.1436-2A>T) c.1095A>T (p.Glu365Asp) c.1443A>T (p.Glu481Asp) c.1407A>T (p.Glu469Asp) c.586-2A>T c.135A>T (p.Glu45Asp) c.1526-2A>T (n.1526-2A>T) c.1497A>T (p.Glu499Asp) c.1401A>T (p.Glu467Asp) c.1008A>T (p.Glu336Asp) c.1472-2A>T (n.1472-2A>T) c.1404A>T (p.Glu468Asp) c.435A>T (p.Glu145Asp) | |
| 20 | g.63414192T>C | CA409645835 | KCNQ2 | c.1473A>G (p.Glu491=) c.1527A>G (p.Glu509=) c.924A>G (p.Glu308=) c.1436-2A>G (n.1436-2A>G) c.1095A>G (p.Glu365=) c.1443A>G (p.Glu481=) c.1407A>G (p.Glu469=) c.586-2A>G c.135A>G (p.Glu45=) c.1526-2A>G (n.1526-2A>G) c.1497A>G (p.Glu499=) c.1401A>G (p.Glu467=) c.1008A>G (p.Glu336=) c.1472-2A>G (n.1472-2A>G) c.1404A>G (p.Glu468=) c.435A>G (p.Glu145=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63414192T>G | CA409645839 | KCNQ2 | c.1473A>C (p.Glu491Asp) c.1527A>C (p.Glu509Asp) c.924A>C (p.Glu308Asp) c.1436-2A>C (n.1436-2A>C) c.1095A>C (p.Glu365Asp) c.1443A>C (p.Glu481Asp) c.1407A>C (p.Glu469Asp) c.586-2A>C c.135A>C (p.Glu45Asp) c.1526-2A>C (n.1526-2A>C) c.1497A>C (p.Glu499Asp) c.1401A>C (p.Glu467Asp) c.1008A>C (p.Glu336Asp) c.1472-2A>C (n.1472-2A>C) c.1404A>C (p.Glu468Asp) c.435A>C (p.Glu145Asp) | |
| 20 | g.63414192T= | CA2374778339 | KCNQ2 | c.1473A= (p.Glu491=) c.1527A= (p.Glu509=) c.924A= (p.Glu308=) c.1436-2A= (n.1436-2A=) c.1095A= (p.Glu365=) c.1443A= (p.Glu481=) c.1407A= (p.Glu469=) c.586-2A= c.135A= (p.Glu45=) c.1526-2A= (n.1526-2A=) c.1497A= (p.Glu499=) c.1401A= (p.Glu467=) c.1008A= (p.Glu336=) c.1472-2A= (n.1472-2A=) c.1404A= (p.Glu468=) c.435A= (p.Glu145=) | |
| 20 | g.63414193del | CA2695230080 | KCNQ2 | c.1473del (p.Ala492GlnfsTer19) c.1527del (p.Ala510GlnfsTer19) c.924del (p.Ala309GlnfsTer19) c.1436-2del (n.1436-2del) c.1095del (p.Ala366GlnfsTer19) c.1443del (p.Ala482GlnfsTer19) c.1407del (p.Ala470GlnfsTer19) c.586-2del c.135del (p.Ala46GlnfsTer19) c.1526-2del (n.1526-2del) c.1497del (p.Ala500GlnfsTer19) c.1401del (p.Ala468GlnfsTer19) c.1008del (p.Ala337GlnfsTer19) c.1472-2del (n.1472-2del) c.1404del (p.Ala469GlnfsTer19) c.435del (p.Ala146GlnfsTer19) | |
| 20 | g.63414193T>A | CA409645844 | KCNQ2 | c.1472A>T (p.Glu491Val) c.1526A>T (p.Glu509Val) c.923A>T (p.Glu308Val) c.1436-3A>T (n.1436-3A>T) c.1094A>T (p.Glu365Val) c.1442A>T (p.Glu481Val) c.1406A>T (p.Glu469Val) c.586-3A>T c.134A>T (p.Glu45Val) c.1526-3A>T (n.1526-3A>T) c.1496A>T (p.Glu499Val) c.1400A>T (p.Glu467Val) c.1007A>T (p.Glu336Val) c.1472-3A>T (n.1472-3A>T) c.1403A>T (p.Glu468Val) c.434A>T (p.Glu145Val) | |
| 20 | g.63414193T>C | CA409645853 | KCNQ2 | c.1472A>G (p.Glu491Gly) c.1526A>G (p.Glu509Gly) c.923A>G (p.Glu308Gly) c.1436-3A>G (n.1436-3A>G) c.1094A>G (p.Glu365Gly) c.1442A>G (p.Glu481Gly) c.1406A>G (p.Glu469Gly) c.586-3A>G c.134A>G (p.Glu45Gly) c.1526-3A>G (n.1526-3A>G) c.1496A>G (p.Glu499Gly) c.1400A>G (p.Glu467Gly) c.1007A>G (p.Glu336Gly) c.1472-3A>G (n.1472-3A>G) c.1403A>G (p.Glu468Gly) c.434A>G (p.Glu145Gly) | |
| 20 | g.63414193T>G | CA317429845 | KCNQ2 | c.1472A>C (p.Glu491Ala) c.1526A>C (p.Glu509Ala) c.923A>C (p.Glu308Ala) c.1436-3A>C (n.1436-3A>C) c.1094A>C (p.Glu365Ala) c.1442A>C (p.Glu481Ala) c.1406A>C (p.Glu469Ala) c.586-3A>C c.134A>C (p.Glu45Ala) c.1526-3A>C (n.1526-3A>C) c.1496A>C (p.Glu499Ala) c.1400A>C (p.Glu467Ala) c.1007A>C (p.Glu336Ala) c.1472-3A>C (n.1472-3A>C) c.1403A>C (p.Glu468Ala) c.434A>C (p.Glu145Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414193T= | CA2374778340 | KCNQ2 | c.1472A= (p.Glu491=) c.1526A= (p.Glu509=) c.923A= (p.Glu308=) c.1436-3A= (n.1436-3A=) c.1094A= (p.Glu365=) c.1442A= (p.Glu481=) c.1406A= (p.Glu469=) c.586-3A= c.134A= (p.Glu45=) c.1526-3A= (n.1526-3A=) c.1496A= (p.Glu499=) c.1400A= (p.Glu467=) c.1007A= (p.Glu336=) c.1472-3A= (n.1472-3A=) c.1403A= (p.Glu468=) c.434A= (p.Glu145=) | |
| 20 | g.63414194C>A | CA409645866 | KCNQ2 | c.1472-1G>T (n.1472-1G>T) c.1526-1G>T (n.1526-1G>T) c.923-1G>T (n.923-1G>T) c.1436-4G>T (n.1436-4G>T) c.1094-1G>T (n.1094-1G>T) c.1442-1G>T (n.1442-1G>T) c.1406-1G>T (n.1406-1G>T) c.586-4G>T c.134-1G>T (n.134-1G>T) c.1526-4G>T (n.1526-4G>T) c.1496-1G>T (n.1496-1G>T) c.1400-1G>T (n.1400-1G>T) c.1007-1G>T (n.1007-1G>T) c.1472-4G>T (n.1472-4G>T) c.1403-1G>T (n.1403-1G>T) c.434-1G>T (n.434-1G>T) | |
| 20 | g.63414194C= | CA2374778341 | KCNQ2 | c.1472-1G= (n.1472-1G=) c.1526-1G= (n.1526-1G=) c.923-1G= (n.923-1G=) c.1436-4G= (n.1436-4G=) c.1094-1G= (n.1094-1G=) c.1442-1G= (n.1442-1G=) c.1406-1G= (n.1406-1G=) c.586-4G= c.134-1G= (n.134-1G=) c.1526-4G= (n.1526-4G=) c.1496-1G= (n.1496-1G=) c.1400-1G= (n.1400-1G=) c.1007-1G= (n.1007-1G=) c.1472-4G= (n.1472-4G=) c.1403-1G= (n.1403-1G=) c.434-1G= (n.434-1G=) | |
| 20 | g.63414194C>G | CA409645874 | KCNQ2 | c.1472-1G>C (n.1472-1G>C) c.1526-1G>C (n.1526-1G>C) c.923-1G>C (n.923-1G>C) c.1436-4G>C (n.1436-4G>C) c.1094-1G>C (n.1094-1G>C) c.1442-1G>C (n.1442-1G>C) c.1406-1G>C (n.1406-1G>C) c.586-4G>C c.134-1G>C (n.134-1G>C) c.1526-4G>C (n.1526-4G>C) c.1496-1G>C (n.1496-1G>C) c.1400-1G>C (n.1400-1G>C) c.1007-1G>C (n.1007-1G>C) c.1472-4G>C (n.1472-4G>C) c.1403-1G>C (n.1403-1G>C) c.434-1G>C (n.434-1G>C) | |
| 20 | g.63414194C>T | CA409645878 | KCNQ2 | c.1472-1G>A (n.1472-1G>A) c.1526-1G>A (n.1526-1G>A) c.923-1G>A (n.923-1G>A) c.1436-4G>A (n.1436-4G>A) c.1094-1G>A (n.1094-1G>A) c.1442-1G>A (n.1442-1G>A) c.1406-1G>A (n.1406-1G>A) c.586-4G>A c.134-1G>A (n.134-1G>A) c.1526-4G>A (n.1526-4G>A) c.1496-1G>A (n.1496-1G>A) c.1400-1G>A (n.1400-1G>A) c.1007-1G>A (n.1007-1G>A) c.1472-4G>A (n.1472-4G>A) c.1403-1G>A (n.1403-1G>A) c.434-1G>A (n.434-1G>A) | |
| 20 | g.63414195T>A | CA409645888 | KCNQ2 | c.1472-2A>T (n.1472-2A>T) c.1526-2A>T (n.1526-2A>T) c.923-2A>T (n.923-2A>T) c.1436-5A>T (n.1436-5A>T) c.1094-2A>T (n.1094-2A>T) c.1442-2A>T (n.1442-2A>T) c.1406-2A>T (n.1406-2A>T) c.586-5A>T c.134-2A>T (n.134-2A>T) c.1526-5A>T (n.1526-5A>T) c.1496-2A>T (n.1496-2A>T) c.1400-2A>T (n.1400-2A>T) c.1007-2A>T (n.1007-2A>T) c.1472-5A>T (n.1472-5A>T) c.1403-2A>T (n.1403-2A>T) c.434-2A>T (n.434-2A>T) |