| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63414077_63414084del | CA1019277466 | KCNQ2 | c.1577+4_1577+11del (n.1577+4_1577+11del) c.1631+4_1631+11del (n.1631+4_1631+11del) c.1028+4_1028+11del (n.1028+4_1028+11del) c.1538+4_1538+11del (n.1538+4_1538+11del) c.1199+4_1199+11del (n.1199+4_1199+11del) c.1547+4_1547+11del (n.1547+4_1547+11del) c.1511+4_1511+11del (n.1511+4_1511+11del) c.239+4_239+11del (n.239+4_239+11del) c.1628+4_1628+11del (n.1628+4_1628+11del) c.1601+4_1601+11del (n.1601+4_1601+11del) c.1505+4_1505+11del (n.1505+4_1505+11del) c.1112+4_1112+11del (n.1112+4_1112+11del) c.1574+4_1574+11del (n.1574+4_1574+11del) c.1508+4_1508+11del (n.1508+4_1508+11del) c.539+4_539+11del (n.539+4_539+11del) | gnomAD v3 gnomAD v4 |
| 20 | g.63414083C= | CA2374778280 | KCNQ2 | c.1577+5G= (n.1577+5G=) c.1631+5G= (n.1631+5G=) c.1028+5G= (n.1028+5G=) c.1538+5G= (n.1538+5G=) c.1199+5G= (n.1199+5G=) c.1547+5G= (n.1547+5G=) c.1511+5G= (n.1511+5G=) c.239+5G= (n.239+5G=) c.1628+5G= (n.1628+5G=) c.1601+5G= (n.1601+5G=) c.1505+5G= (n.1505+5G=) c.1112+5G= (n.1112+5G=) c.1574+5G= (n.1574+5G=) c.1508+5G= (n.1508+5G=) c.539+5G= (n.539+5G=) | |
| 20 | g.63414083C>T | CA658658883 | KCNQ2 | c.1577+5G>A (n.1577+5G>A) c.1631+5G>A (n.1631+5G>A) c.1028+5G>A (n.1028+5G>A) c.1538+5G>A (n.1538+5G>A) c.1199+5G>A (n.1199+5G>A) c.1547+5G>A (n.1547+5G>A) c.1511+5G>A (n.1511+5G>A) c.239+5G>A (n.239+5G>A) c.1628+5G>A (n.1628+5G>A) c.1601+5G>A (n.1601+5G>A) c.1505+5G>A (n.1505+5G>A) c.1112+5G>A (n.1112+5G>A) c.1574+5G>A (n.1574+5G>A) c.1508+5G>A (n.1508+5G>A) c.539+5G>A (n.539+5G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 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.63414086A>C | CA409645097 | KCNQ2 | c.1577+2T>G (n.1577+2T>G) c.1631+2T>G (n.1631+2T>G) c.1028+2T>G (n.1028+2T>G) c.1538+2T>G (n.1538+2T>G) c.1199+2T>G (n.1199+2T>G) c.1547+2T>G (n.1547+2T>G) c.1511+2T>G (n.1511+2T>G) c.239+2T>G (n.239+2T>G) c.1628+2T>G (n.1628+2T>G) c.1601+2T>G (n.1601+2T>G) c.1505+2T>G (n.1505+2T>G) c.1112+2T>G (n.1112+2T>G) c.1574+2T>G (n.1574+2T>G) c.1508+2T>G (n.1508+2T>G) c.539+2T>G (n.539+2T>G) | |
| 20 | g.63414086A>G | CA409645094 | KCNQ2 | c.1577+2T>C (n.1577+2T>C) c.1631+2T>C (n.1631+2T>C) c.1028+2T>C (n.1028+2T>C) c.1538+2T>C (n.1538+2T>C) c.1199+2T>C (n.1199+2T>C) c.1547+2T>C (n.1547+2T>C) c.1511+2T>C (n.1511+2T>C) c.239+2T>C (n.239+2T>C) c.1628+2T>C (n.1628+2T>C) c.1601+2T>C (n.1601+2T>C) c.1505+2T>C (n.1505+2T>C) c.1112+2T>C (n.1112+2T>C) c.1574+2T>C (n.1574+2T>C) c.1508+2T>C (n.1508+2T>C) c.539+2T>C (n.539+2T>C) | ClinVar dbSNP |
| 20 | g.63414086A>T | CA409645092 | KCNQ2 | c.1577+2T>A (n.1577+2T>A) c.1631+2T>A (n.1631+2T>A) c.1028+2T>A (n.1028+2T>A) c.1538+2T>A (n.1538+2T>A) c.1199+2T>A (n.1199+2T>A) c.1547+2T>A (n.1547+2T>A) c.1511+2T>A (n.1511+2T>A) c.239+2T>A (n.239+2T>A) c.1628+2T>A (n.1628+2T>A) c.1601+2T>A (n.1601+2T>A) c.1505+2T>A (n.1505+2T>A) c.1112+2T>A (n.1112+2T>A) c.1574+2T>A (n.1574+2T>A) c.1508+2T>A (n.1508+2T>A) c.539+2T>A (n.539+2T>A) | |
| 20 | g.63414087C>A | CA409645101 | KCNQ2 | c.1577+1G>T (n.1577+1G>T) c.1631+1G>T (n.1631+1G>T) c.1028+1G>T (n.1028+1G>T) c.1538+1G>T (n.1538+1G>T) c.1199+1G>T (n.1199+1G>T) c.1547+1G>T (n.1547+1G>T) c.1511+1G>T (n.1511+1G>T) c.239+1G>T (n.239+1G>T) c.1628+1G>T (n.1628+1G>T) c.1601+1G>T (n.1601+1G>T) c.1505+1G>T (n.1505+1G>T) c.1112+1G>T (n.1112+1G>T) c.1574+1G>T (n.1574+1G>T) c.1508+1G>T (n.1508+1G>T) c.539+1G>T (n.539+1G>T) | |
| 20 | g.63414087C= | CA2374778281 | KCNQ2 | c.1577+1G= (n.1577+1G=) c.1631+1G= (n.1631+1G=) c.1028+1G= (n.1028+1G=) c.1538+1G= (n.1538+1G=) c.1199+1G= (n.1199+1G=) c.1547+1G= (n.1547+1G=) c.1511+1G= (n.1511+1G=) c.239+1G= (n.239+1G=) c.1628+1G= (n.1628+1G=) c.1601+1G= (n.1601+1G=) c.1505+1G= (n.1505+1G=) c.1112+1G= (n.1112+1G=) c.1574+1G= (n.1574+1G=) c.1508+1G= (n.1508+1G=) c.539+1G= (n.539+1G=) | |
| 20 | g.63414087C>G | CA409645103 | KCNQ2 | c.1577+1G>C (n.1577+1G>C) c.1631+1G>C (n.1631+1G>C) c.1028+1G>C (n.1028+1G>C) c.1538+1G>C (n.1538+1G>C) c.1199+1G>C (n.1199+1G>C) c.1547+1G>C (n.1547+1G>C) c.1511+1G>C (n.1511+1G>C) c.239+1G>C (n.239+1G>C) c.1628+1G>C (n.1628+1G>C) c.1601+1G>C (n.1601+1G>C) c.1505+1G>C (n.1505+1G>C) c.1112+1G>C (n.1112+1G>C) c.1574+1G>C (n.1574+1G>C) c.1508+1G>C (n.1508+1G>C) c.539+1G>C (n.539+1G>C) | |
| 20 | g.63414087C>T | CA10654785 | KCNQ2 | c.1577+1G>A (n.1577+1G>A) c.1631+1G>A (n.1631+1G>A) c.1028+1G>A (n.1028+1G>A) c.1538+1G>A (n.1538+1G>A) c.1199+1G>A (n.1199+1G>A) c.1547+1G>A (n.1547+1G>A) c.1511+1G>A (n.1511+1G>A) c.239+1G>A (n.239+1G>A) c.1628+1G>A (n.1628+1G>A) c.1601+1G>A (n.1601+1G>A) c.1505+1G>A (n.1505+1G>A) c.1112+1G>A (n.1112+1G>A) c.1574+1G>A (n.1574+1G>A) c.1508+1G>A (n.1508+1G>A) c.539+1G>A (n.539+1G>A) | ClinVar dbSNP |
| 20 | g.63414088C>A | CA409645109 | KCNQ2 | c.1577G>T (p.Cys526Phe) c.1631G>T (p.Cys544Phe) c.1028G>T (p.Cys343Phe) c.1538G>T (p.Cys513Phe) c.1199G>T (p.Cys400Phe) c.1547G>T (p.Cys516Phe) c.1511G>T (p.Cys504Phe) c.688G>T c.239G>T (p.Cys80Phe) c.1628G>T (p.Cys543Phe) c.1601G>T (p.Cys534Phe) c.1505G>T (p.Cys502Phe) c.1112G>T (p.Cys371Phe) c.1574G>T (p.Cys525Phe) c.1508G>T (p.Cys503Phe) c.539G>T (p.Cys180Phe) | |
| 20 | g.63414088C= | CA2374778282 | KCNQ2 | c.1577G= (p.Cys526=) c.1631G= (p.Cys544=) c.1028G= (p.Cys343=) c.1538G= (p.Cys513=) c.1199G= (p.Cys400=) c.1547G= (p.Cys516=) c.1511G= (p.Cys504=) c.688G= c.239G= (p.Cys80=) c.1628G= (p.Cys543=) c.1601G= (p.Cys534=) c.1505G= (p.Cys502=) c.1112G= (p.Cys371=) c.1574G= (p.Cys525=) c.1508G= (p.Cys503=) c.539G= (p.Cys180=) | |
| 20 | g.63414088C>G | CA409645111 | KCNQ2 | c.1577G>C (p.Cys526Ser) c.1631G>C (p.Cys544Ser) c.1028G>C (p.Cys343Ser) c.1538G>C (p.Cys513Ser) c.1199G>C (p.Cys400Ser) c.1547G>C (p.Cys516Ser) c.1511G>C (p.Cys504Ser) c.688G>C c.239G>C (p.Cys80Ser) c.1628G>C (p.Cys543Ser) c.1601G>C (p.Cys534Ser) c.1505G>C (p.Cys502Ser) c.1112G>C (p.Cys371Ser) c.1574G>C (p.Cys525Ser) c.1508G>C (p.Cys503Ser) c.539G>C (p.Cys180Ser) | ClinVar dbSNP |
| 20 | g.63414088C>T | CA16043222 | KCNQ2 | c.1577G>A (p.Cys526Tyr) c.1631G>A (p.Cys544Tyr) c.1028G>A (p.Cys343Tyr) c.1538G>A (p.Cys513Tyr) c.1199G>A (p.Cys400Tyr) c.1547G>A (p.Cys516Tyr) c.1511G>A (p.Cys504Tyr) c.688G>A c.239G>A (p.Cys80Tyr) c.1628G>A (p.Cys543Tyr) c.1601G>A (p.Cys534Tyr) c.1505G>A (p.Cys502Tyr) c.1112G>A (p.Cys371Tyr) c.1574G>A (p.Cys525Tyr) c.1508G>A (p.Cys503Tyr) c.539G>A (p.Cys180Tyr) | ClinVar dbSNP |
| 20 | g.63414088_63414089insGAGATCT | CA1019277479 | KCNQ2 | c.1576_1577insAGATCTC (p.Cys526Ter) c.1630_1631insAGATCTC (p.Cys544Ter) c.1027_1028insAGATCTC (p.Cys343Ter) c.1537_1538insAGATCTC (p.Cys513Ter) c.1198_1199insAGATCTC (p.Cys400Ter) c.1546_1547insAGATCTC (p.Cys516Ter) c.1510_1511insAGATCTC (p.Cys504Ter) c.687_688insAGATCTC c.238_239insAGATCTC (p.Cys80Ter) c.1627_1628insAGATCTC (p.Cys543Ter) c.1600_1601insAGATCTC (p.Cys534Ter) c.1504_1505insAGATCTC (p.Cys502Ter) c.1111_1112insAGATCTC (p.Cys371Ter) c.1573_1574insAGATCTC (p.Cys525Ter) c.1507_1508insAGATCTC (p.Cys503Ter) c.538_539insAGATCTC (p.Cys180Ter) | gnomAD v3 gnomAD v4 |
| 20 | g.63414089del | CA2577453464 | KCNQ2 | c.1576del (p.Cys526ValfsTer21) c.1630del (p.Cys544ValfsTer21) c.1027del (p.Cys343ValfsTer21) c.1537del (p.Cys513ValfsTer21) c.1198del (p.Cys400ValfsTer21) c.1546del (p.Cys516ValfsTer21) c.1510del (p.Cys504ValfsTer21) c.687del c.238del (p.Cys80ValfsTer21) c.1627del (p.Cys543ValfsTer21) c.1600del (p.Cys534ValfsTer21) c.1504del (p.Cys502ValfsTer21) c.1111del (p.Cys371ValfsTer21) c.1573del (p.Cys525ValfsTer21) c.1507del (p.Cys503ValfsTer21) c.538del (p.Cys180ValfsTer21) | |
| 20 | g.63414089A= | CA2374778283 | KCNQ2 | c.1576T= (p.Cys526=) c.1630T= (p.Cys544=) c.1027T= (p.Cys343=) c.1537T= (p.Cys513=) c.1198T= (p.Cys400=) c.1546T= (p.Cys516=) c.1510T= (p.Cys504=) c.687T= c.238T= (p.Cys80=) c.1627T= (p.Cys543=) c.1600T= (p.Cys534=) c.1504T= (p.Cys502=) c.1111T= (p.Cys371=) c.1573T= (p.Cys525=) c.1507T= (p.Cys503=) c.538T= (p.Cys180=) | |
| 20 | g.63414089A>C | CA317429624 | KCNQ2 | c.1576T>G (p.Cys526Gly) c.1630T>G (p.Cys544Gly) c.1027T>G (p.Cys343Gly) c.1537T>G (p.Cys513Gly) c.1198T>G (p.Cys400Gly) c.1546T>G (p.Cys516Gly) c.1510T>G (p.Cys504Gly) c.687T>G c.238T>G (p.Cys80Gly) c.1627T>G (p.Cys543Gly) c.1600T>G (p.Cys534Gly) c.1504T>G (p.Cys502Gly) c.1111T>G (p.Cys371Gly) c.1573T>G (p.Cys525Gly) c.1507T>G (p.Cys503Gly) c.538T>G (p.Cys180Gly) | dbSNP |
| 20 | g.63414089A>G | CA409645118 | KCNQ2 | c.1576T>C (p.Cys526Arg) c.1630T>C (p.Cys544Arg) c.1027T>C (p.Cys343Arg) c.1537T>C (p.Cys513Arg) c.1198T>C (p.Cys400Arg) c.1546T>C (p.Cys516Arg) c.1510T>C (p.Cys504Arg) c.687T>C c.238T>C (p.Cys80Arg) c.1627T>C (p.Cys543Arg) c.1600T>C (p.Cys534Arg) c.1504T>C (p.Cys502Arg) c.1111T>C (p.Cys371Arg) c.1573T>C (p.Cys525Arg) c.1507T>C (p.Cys503Arg) c.538T>C (p.Cys180Arg) | ClinVar dbSNP |
| 20 | g.63414089A>T | CA317429631 | KCNQ2 | c.1576T>A (p.Cys526Ser) c.1630T>A (p.Cys544Ser) c.1027T>A (p.Cys343Ser) c.1537T>A (p.Cys513Ser) c.1198T>A (p.Cys400Ser) c.1546T>A (p.Cys516Ser) c.1510T>A (p.Cys504Ser) c.687T>A c.238T>A (p.Cys80Ser) c.1627T>A (p.Cys543Ser) c.1600T>A (p.Cys534Ser) c.1504T>A (p.Cys502Ser) c.1111T>A (p.Cys371Ser) c.1573T>A (p.Cys525Ser) c.1507T>A (p.Cys503Ser) c.538T>A (p.Cys180Ser) | dbSNP |
| 20 | g.63414090C>A | CA511203847 | KCNQ2 | c.1575G>T (p.Val525=) c.1629G>T (p.Val543=) c.1026G>T (p.Val342=) c.1536G>T (p.Val512=) c.1197G>T (p.Val399=) c.1545G>T (p.Val515=) c.1509G>T (p.Val503=) c.686G>T c.237G>T (p.Val79=) c.1626G>T (p.Val542=) c.1599G>T (p.Val533=) c.1503G>T (p.Val501=) c.1110G>T (p.Val370=) c.1572G>T (p.Val524=) c.1506G>T (p.Val502=) c.537G>T (p.Val179=) | |
| 20 | g.63414090C>G | CA511203848 | KCNQ2 | c.1575G>C (p.Val525=) c.1629G>C (p.Val543=) c.1026G>C (p.Val342=) c.1536G>C (p.Val512=) c.1197G>C (p.Val399=) c.1545G>C (p.Val515=) c.1509G>C (p.Val503=) c.686G>C c.237G>C (p.Val79=) c.1626G>C (p.Val542=) c.1599G>C (p.Val533=) c.1503G>C (p.Val501=) c.1110G>C (p.Val370=) c.1572G>C (p.Val524=) c.1506G>C (p.Val502=) c.537G>C (p.Val179=) | |
| 20 | g.63414090C>T | CA511203849 | KCNQ2 | c.1575G>A (p.Val525=) c.1629G>A (p.Val543=) c.1026G>A (p.Val342=) c.1536G>A (p.Val512=) c.1197G>A (p.Val399=) c.1545G>A (p.Val515=) c.1509G>A (p.Val503=) c.686G>A c.237G>A (p.Val79=) c.1626G>A (p.Val542=) c.1599G>A (p.Val533=) c.1503G>A (p.Val501=) c.1110G>A (p.Val370=) c.1572G>A (p.Val524=) c.1506G>A (p.Val502=) c.537G>A (p.Val179=) | |
| 20 | g.63414091A>C | CA409645121 | KCNQ2 | c.1574T>G (p.Val525Gly) c.1628T>G (p.Val543Gly) c.1025T>G (p.Val342Gly) c.1535T>G (p.Val512Gly) c.1196T>G (p.Val399Gly) c.1544T>G (p.Val515Gly) c.1508T>G (p.Val503Gly) c.685T>G c.236T>G (p.Val79Gly) c.1625T>G (p.Val542Gly) c.1598T>G (p.Val533Gly) c.1502T>G (p.Val501Gly) c.1109T>G (p.Val370Gly) c.1571T>G (p.Val524Gly) c.1505T>G (p.Val502Gly) c.536T>G (p.Val179Gly) | |
| 20 | g.63414091A>G | CA409645122 | KCNQ2 | c.1574T>C (p.Val525Ala) c.1628T>C (p.Val543Ala) c.1025T>C (p.Val342Ala) c.1535T>C (p.Val512Ala) c.1196T>C (p.Val399Ala) c.1544T>C (p.Val515Ala) c.1508T>C (p.Val503Ala) c.685T>C c.236T>C (p.Val79Ala) c.1625T>C (p.Val542Ala) c.1598T>C (p.Val533Ala) c.1502T>C (p.Val501Ala) c.1109T>C (p.Val370Ala) c.1571T>C (p.Val524Ala) c.1505T>C (p.Val502Ala) c.536T>C (p.Val179Ala) | |
| 20 | g.63414091A>T | CA409645123 | KCNQ2 | c.1574T>A (p.Val525Glu) c.1628T>A (p.Val543Glu) c.1025T>A (p.Val342Glu) c.1535T>A (p.Val512Glu) c.1196T>A (p.Val399Glu) c.1544T>A (p.Val515Glu) c.1508T>A (p.Val503Glu) c.685T>A c.236T>A (p.Val79Glu) c.1625T>A (p.Val542Glu) c.1598T>A (p.Val533Glu) c.1502T>A (p.Val501Glu) c.1109T>A (p.Val370Glu) c.1571T>A (p.Val524Glu) c.1505T>A (p.Val502Glu) c.536T>A (p.Val179Glu) | |
| 20 | g.63414092C>A | CA409645126 | KCNQ2 | c.1573G>T (p.Val525Leu) c.1627G>T (p.Val543Leu) c.1024G>T (p.Val342Leu) c.1534G>T (p.Val512Leu) c.1195G>T (p.Val399Leu) c.1543G>T (p.Val515Leu) c.1507G>T (p.Val503Leu) c.684G>T c.235G>T (p.Val79Leu) c.1624G>T (p.Val542Leu) c.1597G>T (p.Val533Leu) c.1501G>T (p.Val501Leu) c.1108G>T (p.Val370Leu) c.1570G>T (p.Val524Leu) c.1504G>T (p.Val502Leu) c.535G>T (p.Val179Leu) | |
| 20 | g.63414092C= | CA2374778284 | KCNQ2 | c.1573G= (p.Val525=) c.1627G= (p.Val543=) c.1024G= (p.Val342=) c.1534G= (p.Val512=) c.1195G= (p.Val399=) c.1543G= (p.Val515=) c.1507G= (p.Val503=) c.684G= c.235G= (p.Val79=) c.1624G= (p.Val542=) c.1597G= (p.Val533=) c.1501G= (p.Val501=) c.1108G= (p.Val370=) c.1570G= (p.Val524=) c.1504G= (p.Val502=) c.535G= (p.Val179=) | |
| 20 | g.63414092C>G | CA409645131 | KCNQ2 | c.1573G>C (p.Val525Leu) c.1627G>C (p.Val543Leu) c.1024G>C (p.Val342Leu) c.1534G>C (p.Val512Leu) c.1195G>C (p.Val399Leu) c.1543G>C (p.Val515Leu) c.1507G>C (p.Val503Leu) c.684G>C c.235G>C (p.Val79Leu) c.1624G>C (p.Val542Leu) c.1597G>C (p.Val533Leu) c.1501G>C (p.Val501Leu) c.1108G>C (p.Val370Leu) c.1570G>C (p.Val524Leu) c.1504G>C (p.Val502Leu) c.535G>C (p.Val179Leu) | |
| 20 | g.63414092C>T | CA240402 | KCNQ2 | c.1573G>A (p.Val525Met) c.1627G>A (p.Val543Met) c.1024G>A (p.Val342Met) c.1534G>A (p.Val512Met) c.1195G>A (p.Val399Met) c.1543G>A (p.Val515Met) c.1507G>A (p.Val503Met) c.684G>A c.235G>A (p.Val79Met) c.1624G>A (p.Val542Met) c.1597G>A (p.Val533Met) c.1501G>A (p.Val501Met) c.1108G>A (p.Val370Met) c.1570G>A (p.Val524Met) c.1504G>A (p.Val502Met) c.535G>A (p.Val179Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63414093G>A | CA511203850 | KCNQ2 | c.1572C>T (p.Ala524=) c.1626C>T (p.Ala542=) c.1023C>T (p.Ala341=) c.1533C>T (p.Ala511=) c.1194C>T (p.Ala398=) c.1542C>T (p.Ala514=) c.1506C>T (p.Ala502=) c.683C>T c.234C>T (p.Ala78=) c.1623C>T (p.Ala541=) c.1596C>T (p.Ala532=) c.1500C>T (p.Ala500=) c.1107C>T (p.Ala369=) c.1569C>T (p.Ala523=) c.1503C>T (p.Ala501=) c.534C>T (p.Ala178=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414093G>C | CA9958394 | KCNQ2 | c.1572C>G (p.Ala524=) c.1626C>G (p.Ala542=) c.1023C>G (p.Ala341=) c.1533C>G (p.Ala511=) c.1194C>G (p.Ala398=) c.1542C>G (p.Ala514=) c.1506C>G (p.Ala502=) c.683C>G c.234C>G (p.Ala78=) c.1623C>G (p.Ala541=) c.1596C>G (p.Ala532=) c.1500C>G (p.Ala500=) c.1107C>G (p.Ala369=) c.1569C>G (p.Ala523=) c.1503C>G (p.Ala501=) c.534C>G (p.Ala178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414093G= | CA2374778285 | KCNQ2 | c.1572C= (p.Ala524=) c.1626C= (p.Ala542=) c.1023C= (p.Ala341=) c.1533C= (p.Ala511=) c.1194C= (p.Ala398=) c.1542C= (p.Ala514=) c.1506C= (p.Ala502=) c.683C= c.234C= (p.Ala78=) c.1623C= (p.Ala541=) c.1596C= (p.Ala532=) c.1500C= (p.Ala500=) c.1107C= (p.Ala369=) c.1569C= (p.Ala523=) c.1503C= (p.Ala501=) c.534C= (p.Ala178=) | |
| 20 | g.63414093G>T | CA511203851 | KCNQ2 | c.1572C>A (p.Ala524=) c.1626C>A (p.Ala542=) c.1023C>A (p.Ala341=) c.1533C>A (p.Ala511=) c.1194C>A (p.Ala398=) c.1542C>A (p.Ala514=) c.1506C>A (p.Ala502=) c.683C>A c.234C>A (p.Ala78=) c.1623C>A (p.Ala541=) c.1596C>A (p.Ala532=) c.1500C>A (p.Ala500=) c.1107C>A (p.Ala369=) c.1569C>A (p.Ala523=) c.1503C>A (p.Ala501=) c.534C>A (p.Ala178=) | |
| 20 | g.63414094G>A | CA315567 | KCNQ2 | c.1571C>T (p.Ala524Val) c.1625C>T (p.Ala542Val) c.1022C>T (p.Ala341Val) c.1532C>T (p.Ala511Val) c.1193C>T (p.Ala398Val) c.1541C>T (p.Ala514Val) c.1505C>T (p.Ala502Val) c.682C>T c.233C>T (p.Ala78Val) c.1622C>T (p.Ala541Val) c.1595C>T (p.Ala532Val) c.1499C>T (p.Ala500Val) c.1106C>T (p.Ala369Val) c.1568C>T (p.Ala523Val) c.1502C>T (p.Ala501Val) c.533C>T (p.Ala178Val) | ClinVar dbSNP |
| 20 | g.63414094G>C | CA315452 | KCNQ2 | c.1571C>G (p.Ala524Gly) c.1625C>G (p.Ala542Gly) c.1022C>G (p.Ala341Gly) c.1532C>G (p.Ala511Gly) c.1193C>G (p.Ala398Gly) c.1541C>G (p.Ala514Gly) c.1505C>G (p.Ala502Gly) c.682C>G c.233C>G (p.Ala78Gly) c.1622C>G (p.Ala541Gly) c.1595C>G (p.Ala532Gly) c.1499C>G (p.Ala500Gly) c.1106C>G (p.Ala369Gly) c.1568C>G (p.Ala523Gly) c.1502C>G (p.Ala501Gly) c.533C>G (p.Ala178Gly) | dbSNP |
| 20 | g.63414094G= | CA2374778286 | KCNQ2 | c.1571C= (p.Ala524=) c.1625C= (p.Ala542=) c.1022C= (p.Ala341=) c.1532C= (p.Ala511=) c.1193C= (p.Ala398=) c.1541C= (p.Ala514=) c.1505C= (p.Ala502=) c.682C= c.233C= (p.Ala78=) c.1622C= (p.Ala541=) c.1595C= (p.Ala532=) c.1499C= (p.Ala500=) c.1106C= (p.Ala369=) c.1568C= (p.Ala523=) c.1502C= (p.Ala501=) c.533C= (p.Ala178=) | |
| 20 | g.63414094G>T | CA409645136 | KCNQ2 | c.1571C>A (p.Ala524Asp) c.1625C>A (p.Ala542Asp) c.1022C>A (p.Ala341Asp) c.1532C>A (p.Ala511Asp) c.1193C>A (p.Ala398Asp) c.1541C>A (p.Ala514Asp) c.1505C>A (p.Ala502Asp) c.682C>A c.233C>A (p.Ala78Asp) c.1622C>A (p.Ala541Asp) c.1595C>A (p.Ala532Asp) c.1499C>A (p.Ala500Asp) c.1106C>A (p.Ala369Asp) c.1568C>A (p.Ala523Asp) c.1502C>A (p.Ala501Asp) c.533C>A (p.Ala178Asp) | |
| 20 | g.63414095C>A | CA409645138 | KCNQ2 | c.1570G>T (p.Ala524Ser) c.1624G>T (p.Ala542Ser) c.1021G>T (p.Ala341Ser) c.1531G>T (p.Ala511Ser) c.1192G>T (p.Ala398Ser) c.1540G>T (p.Ala514Ser) c.1504G>T (p.Ala502Ser) c.681G>T c.232G>T (p.Ala78Ser) c.1621G>T (p.Ala541Ser) c.1594G>T (p.Ala532Ser) c.1498G>T (p.Ala500Ser) c.1105G>T (p.Ala369Ser) c.1567G>T (p.Ala523Ser) c.1501G>T (p.Ala501Ser) c.532G>T (p.Ala178Ser) | |
| 20 | g.63414095C>G | CA409645140 | KCNQ2 | c.1570G>C (p.Ala524Pro) c.1624G>C (p.Ala542Pro) c.1021G>C (p.Ala341Pro) c.1531G>C (p.Ala511Pro) c.1192G>C (p.Ala398Pro) c.1540G>C (p.Ala514Pro) c.1504G>C (p.Ala502Pro) c.681G>C c.232G>C (p.Ala78Pro) c.1621G>C (p.Ala541Pro) c.1594G>C (p.Ala532Pro) c.1498G>C (p.Ala500Pro) c.1105G>C (p.Ala369Pro) c.1567G>C (p.Ala523Pro) c.1501G>C (p.Ala501Pro) c.532G>C (p.Ala178Pro) | |
| 20 | g.63414095C>T | CA409645141 | KCNQ2 | c.1570G>A (p.Ala524Thr) c.1624G>A (p.Ala542Thr) c.1021G>A (p.Ala341Thr) c.1531G>A (p.Ala511Thr) c.1192G>A (p.Ala398Thr) c.1540G>A (p.Ala514Thr) c.1504G>A (p.Ala502Thr) c.681G>A c.232G>A (p.Ala78Thr) c.1621G>A (p.Ala541Thr) c.1594G>A (p.Ala532Thr) c.1498G>A (p.Ala500Thr) c.1105G>A (p.Ala369Thr) c.1567G>A (p.Ala523Thr) c.1501G>A (p.Ala501Thr) c.532G>A (p.Ala178Thr) | ClinVar |
| 20 | g.63414096T>A | CA409645142 | KCNQ2 | c.1569A>T (p.Arg523Ser) c.1623A>T (p.Arg541Ser) c.1020A>T (p.Arg340Ser) c.1530A>T (p.Arg510Ser) c.1191A>T (p.Arg397Ser) c.1539A>T (p.Arg513Ser) c.1503A>T (p.Arg501Ser) c.680A>T c.231A>T (p.Arg77Ser) c.1620A>T (p.Arg540Ser) c.1593A>T (p.Arg531Ser) c.1497A>T (p.Arg499Ser) c.1104A>T (p.Arg368Ser) c.1566A>T (p.Arg522Ser) c.1500A>T (p.Arg500Ser) c.531A>T (p.Arg177Ser) | |
| 20 | g.63414096T>C | CA511203853 | KCNQ2 | c.1569A>G (p.Arg523=) c.1623A>G (p.Arg541=) c.1020A>G (p.Arg340=) c.1530A>G (p.Arg510=) c.1191A>G (p.Arg397=) c.1539A>G (p.Arg513=) c.1503A>G (p.Arg501=) c.680A>G c.231A>G (p.Arg77=) c.1620A>G (p.Arg540=) c.1593A>G (p.Arg531=) c.1497A>G (p.Arg499=) c.1104A>G (p.Arg368=) c.1566A>G (p.Arg522=) c.1500A>G (p.Arg500=) c.531A>G (p.Arg177=) | |
| 20 | g.63414096T>G | CA409645143 | KCNQ2 | c.1569A>C (p.Arg523Ser) c.1623A>C (p.Arg541Ser) c.1020A>C (p.Arg340Ser) c.1530A>C (p.Arg510Ser) c.1191A>C (p.Arg397Ser) c.1539A>C (p.Arg513Ser) c.1503A>C (p.Arg501Ser) c.680A>C c.231A>C (p.Arg77Ser) c.1620A>C (p.Arg540Ser) c.1593A>C (p.Arg531Ser) c.1497A>C (p.Arg499Ser) c.1104A>C (p.Arg368Ser) c.1566A>C (p.Arg522Ser) c.1500A>C (p.Arg500Ser) c.531A>C (p.Arg177Ser) | |
| 20 | g.63414097C>A | CA409645145 | KCNQ2 | c.1568G>T (p.Arg523Ile) c.1622G>T (p.Arg541Ile) c.1019G>T (p.Arg340Ile) c.1529G>T (p.Arg510Ile) c.1190G>T (p.Arg397Ile) c.1538G>T (p.Arg513Ile) c.1502G>T (p.Arg501Ile) c.679G>T c.230G>T (p.Arg77Ile) c.1619G>T (p.Arg540Ile) c.1592G>T (p.Arg531Ile) c.1496G>T (p.Arg499Ile) c.1103G>T (p.Arg368Ile) c.1565G>T (p.Arg522Ile) c.1499G>T (p.Arg500Ile) c.530G>T (p.Arg177Ile) | |
| 20 | g.63414097C= | CA2374778287 | KCNQ2 | c.1568G= (p.Arg523=) c.1622G= (p.Arg541=) c.1019G= (p.Arg340=) c.1529G= (p.Arg510=) c.1190G= (p.Arg397=) c.1538G= (p.Arg513=) c.1502G= (p.Arg501=) c.679G= c.230G= (p.Arg77=) c.1619G= (p.Arg540=) c.1592G= (p.Arg531=) c.1496G= (p.Arg499=) c.1103G= (p.Arg368=) c.1565G= (p.Arg522=) c.1499G= (p.Arg500=) c.530G= (p.Arg177=) | |
| 20 | g.63414097C>G | CA409645148 | KCNQ2 | c.1568G>C (p.Arg523Thr) c.1622G>C (p.Arg541Thr) c.1019G>C (p.Arg340Thr) c.1529G>C (p.Arg510Thr) c.1190G>C (p.Arg397Thr) c.1538G>C (p.Arg513Thr) c.1502G>C (p.Arg501Thr) c.679G>C c.230G>C (p.Arg77Thr) c.1619G>C (p.Arg540Thr) c.1592G>C (p.Arg531Thr) c.1496G>C (p.Arg499Thr) c.1103G>C (p.Arg368Thr) c.1565G>C (p.Arg522Thr) c.1499G>C (p.Arg500Thr) c.530G>C (p.Arg177Thr) | ClinVar dbSNP |
| 20 | g.63414097C>T | CA409645150 | KCNQ2 | c.1568G>A (p.Arg523Lys) c.1622G>A (p.Arg541Lys) c.1019G>A (p.Arg340Lys) c.1529G>A (p.Arg510Lys) c.1190G>A (p.Arg397Lys) c.1538G>A (p.Arg513Lys) c.1502G>A (p.Arg501Lys) c.679G>A c.230G>A (p.Arg77Lys) c.1619G>A (p.Arg540Lys) c.1592G>A (p.Arg531Lys) c.1496G>A (p.Arg499Lys) c.1103G>A (p.Arg368Lys) c.1565G>A (p.Arg522Lys) c.1499G>A (p.Arg500Lys) c.530G>A (p.Arg177Lys) | ClinVar |
| 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) |