| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63414085_63414098del | CA2573054904 | KCNQ2 | c.1569_1577+5del c.1623_1631+5del c.1020_1028+5del c.1530_1538+5del c.1191_1199+5del c.1539_1547+5del c.1503_1511+5del c.231_239+5del c.1620_1628+5del c.1593_1601+5del c.1497_1505+5del c.1104_1112+5del c.1566_1574+5del c.1500_1508+5del c.531_539+5del | ClinVar dbSNP |
| 20 | g.63414098T>A | CA409645152 | KCNQ2 | c.1567A>T (p.Arg523Ter) c.1621A>T (p.Arg541Ter) c.1018A>T (p.Arg340Ter) c.1528A>T (p.Arg510Ter) c.1189A>T (p.Arg397Ter) c.1537A>T (p.Arg513Ter) c.1501A>T (p.Arg501Ter) c.678A>T c.229A>T (p.Arg77Ter) c.1618A>T (p.Arg540Ter) c.1591A>T (p.Arg531Ter) c.1495A>T (p.Arg499Ter) c.1102A>T (p.Arg368Ter) c.1564A>T (p.Arg522Ter) c.1498A>T (p.Arg500Ter) c.529A>T (p.Arg177Ter) | |
| 20 | g.63414098T>C | CA10654786 | KCNQ2 | c.1567A>G (p.Arg523Gly) c.1621A>G (p.Arg541Gly) c.1018A>G (p.Arg340Gly) c.1528A>G (p.Arg510Gly) c.1189A>G (p.Arg397Gly) c.1537A>G (p.Arg513Gly) c.1501A>G (p.Arg501Gly) c.678A>G c.229A>G (p.Arg77Gly) c.1618A>G (p.Arg540Gly) c.1591A>G (p.Arg531Gly) c.1495A>G (p.Arg499Gly) c.1102A>G (p.Arg368Gly) c.1564A>G (p.Arg522Gly) c.1498A>G (p.Arg500Gly) c.529A>G (p.Arg177Gly) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 20 | g.63414098T>G | CA511203855 | KCNQ2 | c.1567A>C (p.Arg523=) c.1621A>C (p.Arg541=) c.1018A>C (p.Arg340=) c.1528A>C (p.Arg510=) c.1189A>C (p.Arg397=) c.1537A>C (p.Arg513=) c.1501A>C (p.Arg501=) c.678A>C c.229A>C (p.Arg77=) c.1618A>C (p.Arg540=) c.1591A>C (p.Arg531=) c.1495A>C (p.Arg499=) c.1102A>C (p.Arg368=) c.1564A>C (p.Arg522=) c.1498A>C (p.Arg500=) c.529A>C (p.Arg177=) | |
| 20 | g.63414098T= | CA2374778288 | KCNQ2 | c.1567A= (p.Arg523=) c.1621A= (p.Arg541=) c.1018A= (p.Arg340=) c.1528A= (p.Arg510=) c.1189A= (p.Arg397=) c.1537A= (p.Arg513=) c.1501A= (p.Arg501=) c.678A= c.229A= (p.Arg77=) c.1618A= (p.Arg540=) c.1591A= (p.Arg531=) c.1495A= (p.Arg499=) c.1102A= (p.Arg368=) c.1564A= (p.Arg522=) c.1498A= (p.Arg500=) c.529A= (p.Arg177=) | |
| 20 | g.63414099G>A | CA511203856 | KCNQ2 | c.1566C>T (p.Ile522=) c.1620C>T (p.Ile540=) c.1017C>T (p.Ile339=) c.1527C>T (p.Ile509=) c.1188C>T (p.Ile396=) c.1536C>T (p.Ile512=) c.1500C>T (p.Ile500=) c.677C>T c.228C>T (p.Ile76=) c.1617C>T (p.Ile539=) c.1590C>T (p.Ile530=) c.1494C>T (p.Ile498=) c.1101C>T (p.Ile367=) c.1563C>T (p.Ile521=) c.1497C>T (p.Ile499=) c.528C>T (p.Ile176=) | gnomAD v4 |
| 20 | g.63414099G>C | CA409645163 | KCNQ2 | c.1566C>G (p.Ile522Met) c.1620C>G (p.Ile540Met) c.1017C>G (p.Ile339Met) c.1527C>G (p.Ile509Met) c.1188C>G (p.Ile396Met) c.1536C>G (p.Ile512Met) c.1500C>G (p.Ile500Met) c.677C>G c.228C>G (p.Ile76Met) c.1617C>G (p.Ile539Met) c.1590C>G (p.Ile530Met) c.1494C>G (p.Ile498Met) c.1101C>G (p.Ile367Met) c.1563C>G (p.Ile521Met) c.1497C>G (p.Ile499Met) c.528C>G (p.Ile176Met) | |
| 20 | g.63414099G>T | CA511203857 | KCNQ2 | c.1566C>A (p.Ile522=) c.1620C>A (p.Ile540=) c.1017C>A (p.Ile339=) c.1527C>A (p.Ile509=) c.1188C>A (p.Ile396=) c.1536C>A (p.Ile512=) c.1500C>A (p.Ile500=) c.677C>A c.228C>A (p.Ile76=) c.1617C>A (p.Ile539=) c.1590C>A (p.Ile530=) c.1494C>A (p.Ile498=) c.1101C>A (p.Ile367=) c.1563C>A (p.Ile521=) c.1497C>A (p.Ile499=) c.528C>A (p.Ile176=) | |
| 20 | g.63414100A= | CA2374778289 | KCNQ2 | c.1565T= (p.Ile522=) c.1619T= (p.Ile540=) c.1016T= (p.Ile339=) c.1526T= (p.Ile509=) c.1187T= (p.Ile396=) c.1535T= (p.Ile512=) c.1499T= (p.Ile500=) c.676T= c.227T= (p.Ile76=) c.1616T= (p.Ile539=) c.1589T= (p.Ile530=) c.1493T= (p.Ile498=) c.1100T= (p.Ile367=) c.1562T= (p.Ile521=) c.1496T= (p.Ile499=) c.527T= (p.Ile176=) | |
| 20 | g.63414100A>C | CA409645165 | KCNQ2 | c.1565T>G (p.Ile522Ser) c.1619T>G (p.Ile540Ser) c.1016T>G (p.Ile339Ser) c.1526T>G (p.Ile509Ser) c.1187T>G (p.Ile396Ser) c.1535T>G (p.Ile512Ser) c.1499T>G (p.Ile500Ser) c.676T>G c.227T>G (p.Ile76Ser) c.1616T>G (p.Ile539Ser) c.1589T>G (p.Ile530Ser) c.1493T>G (p.Ile498Ser) c.1100T>G (p.Ile367Ser) c.1562T>G (p.Ile521Ser) c.1496T>G (p.Ile499Ser) c.527T>G (p.Ile176Ser) | ClinVar dbSNP |
| 20 | g.63414100A>G | CA409645168 | KCNQ2 | c.1565T>C (p.Ile522Thr) c.1619T>C (p.Ile540Thr) c.1016T>C (p.Ile339Thr) c.1526T>C (p.Ile509Thr) c.1187T>C (p.Ile396Thr) c.1535T>C (p.Ile512Thr) c.1499T>C (p.Ile500Thr) c.676T>C c.227T>C (p.Ile76Thr) c.1616T>C (p.Ile539Thr) c.1589T>C (p.Ile530Thr) c.1493T>C (p.Ile498Thr) c.1100T>C (p.Ile367Thr) c.1562T>C (p.Ile521Thr) c.1496T>C (p.Ile499Thr) c.527T>C (p.Ile176Thr) | |
| 20 | g.63414100A>T | CA409645170 | KCNQ2 | c.1565T>A (p.Ile522Asn) c.1619T>A (p.Ile540Asn) c.1016T>A (p.Ile339Asn) c.1526T>A (p.Ile509Asn) c.1187T>A (p.Ile396Asn) c.1535T>A (p.Ile512Asn) c.1499T>A (p.Ile500Asn) c.676T>A c.227T>A (p.Ile76Asn) c.1616T>A (p.Ile539Asn) c.1589T>A (p.Ile530Asn) c.1493T>A (p.Ile498Asn) c.1100T>A (p.Ile367Asn) c.1562T>A (p.Ile521Asn) c.1496T>A (p.Ile499Asn) c.527T>A (p.Ile176Asn) | |
| 20 | g.63414101T>A | CA409645171 | KCNQ2 | c.1564A>T (p.Ile522Phe) c.1618A>T (p.Ile540Phe) c.1015A>T (p.Ile339Phe) c.1525A>T (p.Ile509Phe) c.1186A>T (p.Ile396Phe) c.1534A>T (p.Ile512Phe) c.1498A>T (p.Ile500Phe) c.675A>T c.226A>T (p.Ile76Phe) c.1615A>T (p.Ile539Phe) c.1588A>T (p.Ile530Phe) c.1492A>T (p.Ile498Phe) c.1099A>T (p.Ile367Phe) c.1561A>T (p.Ile521Phe) c.1495A>T (p.Ile499Phe) c.526A>T (p.Ile176Phe) | |
| 20 | g.63414101T>C | CA409645172 | KCNQ2 | c.1564A>G (p.Ile522Val) c.1618A>G (p.Ile540Val) c.1015A>G (p.Ile339Val) c.1525A>G (p.Ile509Val) c.1186A>G (p.Ile396Val) c.1534A>G (p.Ile512Val) c.1498A>G (p.Ile500Val) c.675A>G c.226A>G (p.Ile76Val) c.1615A>G (p.Ile539Val) c.1588A>G (p.Ile530Val) c.1492A>G (p.Ile498Val) c.1099A>G (p.Ile367Val) c.1561A>G (p.Ile521Val) c.1495A>G (p.Ile499Val) c.526A>G (p.Ile176Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63414101T>G | CA409645175 | KCNQ2 | c.1564A>C (p.Ile522Leu) c.1618A>C (p.Ile540Leu) c.1015A>C (p.Ile339Leu) c.1525A>C (p.Ile509Leu) c.1186A>C (p.Ile396Leu) c.1534A>C (p.Ile512Leu) c.1498A>C (p.Ile500Leu) c.675A>C c.226A>C (p.Ile76Leu) c.1615A>C (p.Ile539Leu) c.1588A>C (p.Ile530Leu) c.1492A>C (p.Ile498Leu) c.1099A>C (p.Ile367Leu) c.1561A>C (p.Ile521Leu) c.1495A>C (p.Ile499Leu) c.526A>C (p.Ile176Leu) | |
| 20 | g.63414102G>A | CA511203860 | KCNQ2 | c.1563C>T (p.Ser521=) c.1617C>T (p.Ser539=) c.1014C>T (p.Ser338=) c.1524C>T (p.Ser508=) c.1185C>T (p.Ser395=) c.1533C>T (p.Ser511=) c.1497C>T (p.Ser499=) c.674C>T c.225C>T (p.Ser75=) c.1614C>T (p.Ser538=) c.1587C>T (p.Ser529=) c.1491C>T (p.Ser497=) c.1098C>T (p.Ser366=) c.1560C>T (p.Ser520=) c.1494C>T (p.Ser498=) c.525C>T (p.Ser175=) | ClinVar dbSNP |
| 20 | g.63414102G>C | CA409645176 | KCNQ2 | c.1563C>G (p.Ser521Arg) c.1617C>G (p.Ser539Arg) c.1014C>G (p.Ser338Arg) c.1524C>G (p.Ser508Arg) c.1185C>G (p.Ser395Arg) c.1533C>G (p.Ser511Arg) c.1497C>G (p.Ser499Arg) c.674C>G c.225C>G (p.Ser75Arg) c.1614C>G (p.Ser538Arg) c.1587C>G (p.Ser529Arg) c.1491C>G (p.Ser497Arg) c.1098C>G (p.Ser366Arg) c.1560C>G (p.Ser520Arg) c.1494C>G (p.Ser498Arg) c.525C>G (p.Ser175Arg) | |
| 20 | g.63414102G>T | CA409645177 | KCNQ2 | c.1563C>A (p.Ser521Arg) c.1617C>A (p.Ser539Arg) c.1014C>A (p.Ser338Arg) c.1524C>A (p.Ser508Arg) c.1185C>A (p.Ser395Arg) c.1533C>A (p.Ser511Arg) c.1497C>A (p.Ser499Arg) c.674C>A c.225C>A (p.Ser75Arg) c.1614C>A (p.Ser538Arg) c.1587C>A (p.Ser529Arg) c.1491C>A (p.Ser497Arg) c.1098C>A (p.Ser366Arg) c.1560C>A (p.Ser520Arg) c.1494C>A (p.Ser498Arg) c.525C>A (p.Ser175Arg) | |
| 20 | g.63414103C>A | CA409645178 | KCNQ2 | c.1562G>T (p.Ser521Ile) c.1616G>T (p.Ser539Ile) c.1013G>T (p.Ser338Ile) c.1523G>T (p.Ser508Ile) c.1184G>T (p.Ser395Ile) c.1532G>T (p.Ser511Ile) c.1496G>T (p.Ser499Ile) c.673G>T c.224G>T (p.Ser75Ile) c.1613G>T (p.Ser538Ile) c.1586G>T (p.Ser529Ile) c.1490G>T (p.Ser497Ile) c.1097G>T (p.Ser366Ile) c.1559G>T (p.Ser520Ile) c.1493G>T (p.Ser498Ile) c.524G>T (p.Ser175Ile) | |
| 20 | g.63414103C>G | CA409645179 | KCNQ2 | c.1562G>C (p.Ser521Thr) c.1616G>C (p.Ser539Thr) c.1013G>C (p.Ser338Thr) c.1523G>C (p.Ser508Thr) c.1184G>C (p.Ser395Thr) c.1532G>C (p.Ser511Thr) c.1496G>C (p.Ser499Thr) c.673G>C c.224G>C (p.Ser75Thr) c.1613G>C (p.Ser538Thr) c.1586G>C (p.Ser529Thr) c.1490G>C (p.Ser497Thr) c.1097G>C (p.Ser366Thr) c.1559G>C (p.Ser520Thr) c.1493G>C (p.Ser498Thr) c.524G>C (p.Ser175Thr) | |
| 20 | g.63414103C>T | CA409645180 | KCNQ2 | c.1562G>A (p.Ser521Asn) c.1616G>A (p.Ser539Asn) c.1013G>A (p.Ser338Asn) c.1523G>A (p.Ser508Asn) c.1184G>A (p.Ser395Asn) c.1532G>A (p.Ser511Asn) c.1496G>A (p.Ser499Asn) c.673G>A c.224G>A (p.Ser75Asn) c.1613G>A (p.Ser538Asn) c.1586G>A (p.Ser529Asn) c.1490G>A (p.Ser497Asn) c.1097G>A (p.Ser366Asn) c.1559G>A (p.Ser520Asn) c.1493G>A (p.Ser498Asn) c.524G>A (p.Ser175Asn) | ClinVar |
| 20 | g.63414103_63414109delinsCTGACTT | CA2374778290 | KCNQ2 | c.1556_1562delinsAAGTCAG (p.Lys519=) c.1610_1616delinsAAGTCAG (p.Lys537=) c.1007_1013delinsAAGTCAG (p.Lys336=) c.1517_1523delinsAAGTCAG (p.Lys506=) c.1178_1184delinsAAGTCAG (p.Lys393=) c.1526_1532delinsAAGTCAG (p.Lys509=) c.1490_1496delinsAAGTCAG (p.Lys497=) c.667_673delinsAAGTCAG c.218_224delinsAAGTCAG (p.Lys73=) c.1607_1613delinsAAGTCAG (p.Lys536=) c.1580_1586delinsAAGTCAG (p.Lys527=) c.1484_1490delinsAAGTCAG (p.Lys495=) c.1091_1097delinsAAGTCAG (p.Lys364=) c.1553_1559delinsAAGTCAG (p.Lys518=) c.1487_1493delinsAAGTCAG (p.Lys496=) c.518_524delinsAAGTCAG (p.Lys173=) | |
| 20 | g.63414104T>A | CA409645181 | KCNQ2 | c.1561A>T (p.Ser521Cys) c.1615A>T (p.Ser539Cys) c.1012A>T (p.Ser338Cys) c.1522A>T (p.Ser508Cys) c.1183A>T (p.Ser395Cys) c.1531A>T (p.Ser511Cys) c.1495A>T (p.Ser499Cys) c.672A>T c.223A>T (p.Ser75Cys) c.1612A>T (p.Ser538Cys) c.1585A>T (p.Ser529Cys) c.1489A>T (p.Ser497Cys) c.1096A>T (p.Ser366Cys) c.1558A>T (p.Ser520Cys) c.1492A>T (p.Ser498Cys) c.523A>T (p.Ser175Cys) | gnomAD v4 |
| 20 | g.63414104T>C | CA409645183 | KCNQ2 | c.1561A>G (p.Ser521Gly) c.1615A>G (p.Ser539Gly) c.1012A>G (p.Ser338Gly) c.1522A>G (p.Ser508Gly) c.1183A>G (p.Ser395Gly) c.1531A>G (p.Ser511Gly) c.1495A>G (p.Ser499Gly) c.672A>G c.223A>G (p.Ser75Gly) c.1612A>G (p.Ser538Gly) c.1585A>G (p.Ser529Gly) c.1489A>G (p.Ser497Gly) c.1096A>G (p.Ser366Gly) c.1558A>G (p.Ser520Gly) c.1492A>G (p.Ser498Gly) c.523A>G (p.Ser175Gly) | |
| 20 | g.63414104T>G | CA409645186 | KCNQ2 | c.1561A>C (p.Ser521Arg) c.1615A>C (p.Ser539Arg) c.1012A>C (p.Ser338Arg) c.1522A>C (p.Ser508Arg) c.1183A>C (p.Ser395Arg) c.1531A>C (p.Ser511Arg) c.1495A>C (p.Ser499Arg) c.672A>C c.223A>C (p.Ser75Arg) c.1612A>C (p.Ser538Arg) c.1585A>C (p.Ser529Arg) c.1489A>C (p.Ser497Arg) c.1096A>C (p.Ser366Arg) c.1558A>C (p.Ser520Arg) c.1492A>C (p.Ser498Arg) c.523A>C (p.Ser175Arg) | |
| 20 | g.63414107_63414112del | CA645372661 | KCNQ2 | c.1556_1561del (p.Lys519_Val520del) c.1610_1615del (p.Lys537_Val538del) c.1007_1012del (p.Lys336_Val337del) c.1517_1522del (p.Lys506_Val507del) c.1178_1183del (p.Lys393_Val394del) c.1526_1531del (p.Lys509_Val510del) c.1490_1495del (p.Lys497_Val498del) c.667_672del c.218_223del (p.Lys73_Val74del) c.1607_1612del (p.Lys536_Val537del) c.1580_1585del (p.Lys527_Val528del) c.1484_1489del (p.Lys495_Val496del) c.1091_1096del (p.Lys364_Val365del) c.1553_1558del (p.Lys518_Val519del) c.1487_1492del (p.Lys496_Val497del) c.518_523del (p.Lys173_Val174del) | ClinVar dbSNP |
| 20 | g.63414105G>A | CA511203861 | KCNQ2 | c.1560C>T (p.Val520=) c.1614C>T (p.Val538=) c.1011C>T (p.Val337=) c.1521C>T (p.Val507=) c.1182C>T (p.Val394=) c.1530C>T (p.Val510=) c.1494C>T (p.Val498=) c.671C>T c.222C>T (p.Val74=) c.1611C>T (p.Val537=) c.1584C>T (p.Val528=) c.1488C>T (p.Val496=) c.1095C>T (p.Val365=) c.1557C>T (p.Val519=) c.1491C>T (p.Val497=) c.522C>T (p.Val174=) | |
| 20 | g.63414105G>C | CA511203862 | KCNQ2 | c.1560C>G (p.Val520=) c.1614C>G (p.Val538=) c.1011C>G (p.Val337=) c.1521C>G (p.Val507=) c.1182C>G (p.Val394=) c.1530C>G (p.Val510=) c.1494C>G (p.Val498=) c.671C>G c.222C>G (p.Val74=) c.1611C>G (p.Val537=) c.1584C>G (p.Val528=) c.1488C>G (p.Val496=) c.1095C>G (p.Val365=) c.1557C>G (p.Val519=) c.1491C>G (p.Val497=) c.522C>G (p.Val174=) | |
| 20 | g.63414105G>T | CA511203863 | KCNQ2 | c.1560C>A (p.Val520=) c.1614C>A (p.Val538=) c.1011C>A (p.Val337=) c.1521C>A (p.Val507=) c.1182C>A (p.Val394=) c.1530C>A (p.Val510=) c.1494C>A (p.Val498=) c.671C>A c.222C>A (p.Val74=) c.1611C>A (p.Val537=) c.1584C>A (p.Val528=) c.1488C>A (p.Val496=) c.1095C>A (p.Val365=) c.1557C>A (p.Val519=) c.1491C>A (p.Val497=) c.522C>A (p.Val174=) | |
| 20 | g.63414106A>C | CA409645197 | KCNQ2 | c.1559T>G (p.Val520Gly) c.1613T>G (p.Val538Gly) c.1010T>G (p.Val337Gly) c.1520T>G (p.Val507Gly) c.1181T>G (p.Val394Gly) c.1529T>G (p.Val510Gly) c.1493T>G (p.Val498Gly) c.670T>G c.221T>G (p.Val74Gly) c.1610T>G (p.Val537Gly) c.1583T>G (p.Val528Gly) c.1487T>G (p.Val496Gly) c.1094T>G (p.Val365Gly) c.1556T>G (p.Val519Gly) c.1490T>G (p.Val497Gly) c.521T>G (p.Val174Gly) | |
| 20 | g.63414106A>G | CA409645195 | KCNQ2 | c.1559T>C (p.Val520Ala) c.1613T>C (p.Val538Ala) c.1010T>C (p.Val337Ala) c.1520T>C (p.Val507Ala) c.1181T>C (p.Val394Ala) c.1529T>C (p.Val510Ala) c.1493T>C (p.Val498Ala) c.670T>C c.221T>C (p.Val74Ala) c.1610T>C (p.Val537Ala) c.1583T>C (p.Val528Ala) c.1487T>C (p.Val496Ala) c.1094T>C (p.Val365Ala) c.1556T>C (p.Val519Ala) c.1490T>C (p.Val497Ala) c.521T>C (p.Val174Ala) | |
| 20 | g.63414106A>T | CA409645193 | KCNQ2 | c.1559T>A (p.Val520Asp) c.1613T>A (p.Val538Asp) c.1010T>A (p.Val337Asp) c.1520T>A (p.Val507Asp) c.1181T>A (p.Val394Asp) c.1529T>A (p.Val510Asp) c.1493T>A (p.Val498Asp) c.670T>A c.221T>A (p.Val74Asp) c.1610T>A (p.Val537Asp) c.1583T>A (p.Val528Asp) c.1487T>A (p.Val496Asp) c.1094T>A (p.Val365Asp) c.1556T>A (p.Val519Asp) c.1490T>A (p.Val497Asp) c.521T>A (p.Val174Asp) | |
| 20 | g.63414107C>A | CA409645202 | KCNQ2 | c.1558G>T (p.Val520Phe) c.1612G>T (p.Val538Phe) c.1009G>T (p.Val337Phe) c.1519G>T (p.Val507Phe) c.1180G>T (p.Val394Phe) c.1528G>T (p.Val510Phe) c.1492G>T (p.Val498Phe) c.669G>T c.220G>T (p.Val74Phe) c.1609G>T (p.Val537Phe) c.1582G>T (p.Val528Phe) c.1486G>T (p.Val496Phe) c.1093G>T (p.Val365Phe) c.1555G>T (p.Val519Phe) c.1489G>T (p.Val497Phe) c.520G>T (p.Val174Phe) | |
| 20 | g.63414107C= | CA2374778291 | KCNQ2 | c.1558G= (p.Val520=) c.1612G= (p.Val538=) c.1009G= (p.Val337=) c.1519G= (p.Val507=) c.1180G= (p.Val394=) c.1528G= (p.Val510=) c.1492G= (p.Val498=) c.669G= c.220G= (p.Val74=) c.1609G= (p.Val537=) c.1582G= (p.Val528=) c.1486G= (p.Val496=) c.1093G= (p.Val365=) c.1555G= (p.Val519=) c.1489G= (p.Val497=) c.520G= (p.Val174=) | |
| 20 | g.63414107C>G | CA409645200 | KCNQ2 | c.1558G>C (p.Val520Leu) c.1612G>C (p.Val538Leu) c.1009G>C (p.Val337Leu) c.1519G>C (p.Val507Leu) c.1180G>C (p.Val394Leu) c.1528G>C (p.Val510Leu) c.1492G>C (p.Val498Leu) c.669G>C c.220G>C (p.Val74Leu) c.1609G>C (p.Val537Leu) c.1582G>C (p.Val528Leu) c.1486G>C (p.Val496Leu) c.1093G>C (p.Val365Leu) c.1555G>C (p.Val519Leu) c.1489G>C (p.Val497Leu) c.520G>C (p.Val174Leu) | gnomAD v4 |
| 20 | g.63414107C>T | CA409645201 | KCNQ2 | c.1558G>A (p.Val520Ile) c.1612G>A (p.Val538Ile) c.1009G>A (p.Val337Ile) c.1519G>A (p.Val507Ile) c.1180G>A (p.Val394Ile) c.1528G>A (p.Val510Ile) c.1492G>A (p.Val498Ile) c.669G>A c.220G>A (p.Val74Ile) c.1609G>A (p.Val537Ile) c.1582G>A (p.Val528Ile) c.1486G>A (p.Val496Ile) c.1093G>A (p.Val365Ile) c.1555G>A (p.Val519Ile) c.1489G>A (p.Val497Ile) c.520G>A (p.Val174Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63414108T>A | CA409645203 | KCNQ2 | c.1557A>T (p.Lys519Asn) c.1611A>T (p.Lys537Asn) c.1008A>T (p.Lys336Asn) c.1518A>T (p.Lys506Asn) c.1179A>T (p.Lys393Asn) c.1527A>T (p.Lys509Asn) c.1491A>T (p.Lys497Asn) c.668A>T c.219A>T (p.Lys73Asn) c.1608A>T (p.Lys536Asn) c.1581A>T (p.Lys527Asn) c.1485A>T (p.Lys495Asn) c.1092A>T (p.Lys364Asn) c.1554A>T (p.Lys518Asn) c.1488A>T (p.Lys496Asn) c.519A>T (p.Lys173Asn) | ClinVar |
| 20 | g.63414108T>C | CA511203864 | KCNQ2 | c.1557A>G (p.Lys519=) c.1611A>G (p.Lys537=) c.1008A>G (p.Lys336=) c.1518A>G (p.Lys506=) c.1179A>G (p.Lys393=) c.1527A>G (p.Lys509=) c.1491A>G (p.Lys497=) c.668A>G c.219A>G (p.Lys73=) c.1608A>G (p.Lys536=) c.1581A>G (p.Lys527=) c.1485A>G (p.Lys495=) c.1092A>G (p.Lys364=) c.1554A>G (p.Lys518=) c.1488A>G (p.Lys496=) c.519A>G (p.Lys173=) | |
| 20 | g.63414108T>G | CA409645204 | KCNQ2 | c.1557A>C (p.Lys519Asn) c.1611A>C (p.Lys537Asn) c.1008A>C (p.Lys336Asn) c.1518A>C (p.Lys506Asn) c.1179A>C (p.Lys393Asn) c.1527A>C (p.Lys509Asn) c.1491A>C (p.Lys497Asn) c.668A>C c.219A>C (p.Lys73Asn) c.1608A>C (p.Lys536Asn) c.1581A>C (p.Lys527Asn) c.1485A>C (p.Lys495Asn) c.1092A>C (p.Lys364Asn) c.1554A>C (p.Lys518Asn) c.1488A>C (p.Lys496Asn) c.519A>C (p.Lys173Asn) | |
| 20 | g.63414109T>A | CA409645206 | KCNQ2 | c.1556A>T (p.Lys519Ile) c.1610A>T (p.Lys537Ile) c.1007A>T (p.Lys336Ile) c.1517A>T (p.Lys506Ile) c.1178A>T (p.Lys393Ile) c.1526A>T (p.Lys509Ile) c.1490A>T (p.Lys497Ile) c.667A>T c.218A>T (p.Lys73Ile) c.1607A>T (p.Lys536Ile) c.1580A>T (p.Lys527Ile) c.1484A>T (p.Lys495Ile) c.1091A>T (p.Lys364Ile) c.1553A>T (p.Lys518Ile) c.1487A>T (p.Lys496Ile) c.518A>T (p.Lys173Ile) | |
| 20 | g.63414109T>C | CA9958395 | KCNQ2 | c.1556A>G (p.Lys519Arg) c.1610A>G (p.Lys537Arg) c.1007A>G (p.Lys336Arg) c.1517A>G (p.Lys506Arg) c.1178A>G (p.Lys393Arg) c.1526A>G (p.Lys509Arg) c.1490A>G (p.Lys497Arg) c.667A>G c.218A>G (p.Lys73Arg) c.1607A>G (p.Lys536Arg) c.1580A>G (p.Lys527Arg) c.1484A>G (p.Lys495Arg) c.1091A>G (p.Lys364Arg) c.1553A>G (p.Lys518Arg) c.1487A>G (p.Lys496Arg) c.518A>G (p.Lys173Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414109T>G | CA409645211 | KCNQ2 | c.1556A>C (p.Lys519Thr) c.1610A>C (p.Lys537Thr) c.1007A>C (p.Lys336Thr) c.1517A>C (p.Lys506Thr) c.1178A>C (p.Lys393Thr) c.1526A>C (p.Lys509Thr) c.1490A>C (p.Lys497Thr) c.667A>C c.218A>C (p.Lys73Thr) c.1607A>C (p.Lys536Thr) c.1580A>C (p.Lys527Thr) c.1484A>C (p.Lys495Thr) c.1091A>C (p.Lys364Thr) c.1553A>C (p.Lys518Thr) c.1487A>C (p.Lys496Thr) c.518A>C (p.Lys173Thr) | |
| 20 | g.63414109T= | CA2374778292 | KCNQ2 | c.1556A= (p.Lys519=) c.1610A= (p.Lys537=) c.1007A= (p.Lys336=) c.1517A= (p.Lys506=) c.1178A= (p.Lys393=) c.1526A= (p.Lys509=) c.1490A= (p.Lys497=) c.667A= c.218A= (p.Lys73=) c.1607A= (p.Lys536=) c.1580A= (p.Lys527=) c.1484A= (p.Lys495=) c.1091A= (p.Lys364=) c.1553A= (p.Lys518=) c.1487A= (p.Lys496=) c.518A= (p.Lys173=) | |
| 20 | g.63414110T>A | CA10654787 | KCNQ2 | c.1555A>T (p.Lys519Ter) c.1609A>T (p.Lys537Ter) c.1006A>T (p.Lys336Ter) c.1516A>T (p.Lys506Ter) c.1177A>T (p.Lys393Ter) c.1525A>T (p.Lys509Ter) c.1489A>T (p.Lys497Ter) c.666A>T c.217A>T (p.Lys73Ter) c.1606A>T (p.Lys536Ter) c.1579A>T (p.Lys527Ter) c.1483A>T (p.Lys495Ter) c.1090A>T (p.Lys364Ter) c.1552A>T (p.Lys518Ter) c.1486A>T (p.Lys496Ter) c.517A>T (p.Lys173Ter) | ClinVar dbSNP |
| 20 | g.63414110T>C | CA409645213 | KCNQ2 | c.1555A>G (p.Lys519Glu) c.1609A>G (p.Lys537Glu) c.1006A>G (p.Lys336Glu) c.1516A>G (p.Lys506Glu) c.1177A>G (p.Lys393Glu) c.1525A>G (p.Lys509Glu) c.1489A>G (p.Lys497Glu) c.666A>G c.217A>G (p.Lys73Glu) c.1606A>G (p.Lys536Glu) c.1579A>G (p.Lys527Glu) c.1483A>G (p.Lys495Glu) c.1090A>G (p.Lys364Glu) c.1552A>G (p.Lys518Glu) c.1486A>G (p.Lys496Glu) c.517A>G (p.Lys173Glu) | |
| 20 | g.63414110T>G | CA409645217 | KCNQ2 | c.1555A>C (p.Lys519Gln) c.1609A>C (p.Lys537Gln) c.1006A>C (p.Lys336Gln) c.1516A>C (p.Lys506Gln) c.1177A>C (p.Lys393Gln) c.1525A>C (p.Lys509Gln) c.1489A>C (p.Lys497Gln) c.666A>C c.217A>C (p.Lys73Gln) c.1606A>C (p.Lys536Gln) c.1579A>C (p.Lys527Gln) c.1483A>C (p.Lys495Gln) c.1090A>C (p.Lys364Gln) c.1552A>C (p.Lys518Gln) c.1486A>C (p.Lys496Gln) c.517A>C (p.Lys173Gln) | |
| 20 | g.63414110T= | CA2374778293 | KCNQ2 | c.1555A= (p.Lys519=) c.1609A= (p.Lys537=) c.1006A= (p.Lys336=) c.1516A= (p.Lys506=) c.1177A= (p.Lys393=) c.1525A= (p.Lys509=) c.1489A= (p.Lys497=) c.666A= c.217A= (p.Lys73=) c.1606A= (p.Lys536=) c.1579A= (p.Lys527=) c.1483A= (p.Lys495=) c.1090A= (p.Lys364=) c.1552A= (p.Lys518=) c.1486A= (p.Lys496=) c.517A= (p.Lys173=) | |
| 20 | g.63414111G>A | CA511203868 | KCNQ2 | c.1554C>T (p.Leu518=) c.1608C>T (p.Leu536=) c.1005C>T (p.Leu335=) c.1515C>T (p.Leu505=) c.1176C>T (p.Leu392=) c.1524C>T (p.Leu508=) c.1488C>T (p.Leu496=) c.665C>T c.216C>T (p.Leu72=) c.1605C>T (p.Leu535=) c.1578C>T (p.Leu526=) c.1482C>T (p.Leu494=) c.1089C>T (p.Leu363=) c.1551C>T (p.Leu517=) c.1485C>T (p.Leu495=) c.516C>T (p.Leu172=) | |
| 20 | g.63414111G>C | CA511203869 | KCNQ2 | c.1554C>G (p.Leu518=) c.1608C>G (p.Leu536=) c.1005C>G (p.Leu335=) c.1515C>G (p.Leu505=) c.1176C>G (p.Leu392=) c.1524C>G (p.Leu508=) c.1488C>G (p.Leu496=) c.665C>G c.216C>G (p.Leu72=) c.1605C>G (p.Leu535=) c.1578C>G (p.Leu526=) c.1482C>G (p.Leu494=) c.1089C>G (p.Leu363=) c.1551C>G (p.Leu517=) c.1485C>G (p.Leu495=) c.516C>G (p.Leu172=) | |
| 20 | g.63414111G>T | CA511203870 | KCNQ2 | c.1554C>A (p.Leu518=) c.1608C>A (p.Leu536=) c.1005C>A (p.Leu335=) c.1515C>A (p.Leu505=) c.1176C>A (p.Leu392=) c.1524C>A (p.Leu508=) c.1488C>A (p.Leu496=) c.665C>A c.216C>A (p.Leu72=) c.1605C>A (p.Leu535=) c.1578C>A (p.Leu526=) c.1482C>A (p.Leu494=) c.1089C>A (p.Leu363=) c.1551C>A (p.Leu517=) c.1485C>A (p.Leu495=) c.516C>A (p.Leu172=) |