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.63414081dup | CA511203845 | KCNQ2 | c.1577+10dup (n.1577+10dup) c.1631+10dup (n.1631+10dup) c.1028+10dup (n.1028+10dup) c.1538+10dup (n.1538+10dup) c.1199+10dup (n.1199+10dup) c.1547+10dup (n.1547+10dup) c.1511+10dup (n.1511+10dup) c.239+10dup (n.239+10dup) c.1628+10dup (n.1628+10dup) c.1601+10dup (n.1601+10dup) c.1505+10dup (n.1505+10dup) c.1112+10dup (n.1112+10dup) c.1574+10dup (n.1574+10dup) c.1508+10dup (n.1508+10dup) c.539+10dup (n.539+10dup) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63414081del | CA2653799541 | KCNQ2 | c.1577+10del (n.1577+10del) c.1631+10del (n.1631+10del) c.1028+10del (n.1028+10del) c.1538+10del (n.1538+10del) c.1199+10del (n.1199+10del) c.1547+10del (n.1547+10del) c.1511+10del (n.1511+10del) c.239+10del (n.239+10del) c.1628+10del (n.1628+10del) c.1601+10del (n.1601+10del) c.1505+10del (n.1505+10del) c.1112+10del (n.1112+10del) c.1574+10del (n.1574+10del) c.1508+10del (n.1508+10del) c.539+10del (n.539+10del) | gnomAD v4 |
20 | g.63414080G>A | CA658799399 | KCNQ2 | c.1577+8C>T (n.1577+8C>T) c.1631+8C>T (n.1631+8C>T) c.1028+8C>T (n.1028+8C>T) c.1538+8C>T (n.1538+8C>T) c.1199+8C>T (n.1199+8C>T) c.1547+8C>T (n.1547+8C>T) c.1511+8C>T (n.1511+8C>T) c.239+8C>T (n.239+8C>T) c.1628+8C>T (n.1628+8C>T) c.1601+8C>T (n.1601+8C>T) c.1505+8C>T (n.1505+8C>T) c.1112+8C>T (n.1112+8C>T) c.1574+8C>T (n.1574+8C>T) c.1508+8C>T (n.1508+8C>T) c.539+8C>T (n.539+8C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63414080G= | CA2374778277 | KCNQ2 | c.1577+8C= (n.1577+8C=) c.1631+8C= (n.1631+8C=) c.1028+8C= (n.1028+8C=) c.1538+8C= (n.1538+8C=) c.1199+8C= (n.1199+8C=) c.1547+8C= (n.1547+8C=) c.1511+8C= (n.1511+8C=) c.239+8C= (n.239+8C=) c.1628+8C= (n.1628+8C=) c.1601+8C= (n.1601+8C=) c.1505+8C= (n.1505+8C=) c.1112+8C= (n.1112+8C=) c.1574+8C= (n.1574+8C=) c.1508+8C= (n.1508+8C=) c.539+8C= (n.539+8C=) | |
20 | g.63414081G>T | CA2653799545 | KCNQ2 | c.1577+7C>A (n.1577+7C>A) c.1631+7C>A (n.1631+7C>A) c.1028+7C>A (n.1028+7C>A) c.1538+7C>A (n.1538+7C>A) c.1199+7C>A (n.1199+7C>A) c.1547+7C>A (n.1547+7C>A) c.1511+7C>A (n.1511+7C>A) c.239+7C>A (n.239+7C>A) c.1628+7C>A (n.1628+7C>A) c.1601+7C>A (n.1601+7C>A) c.1505+7C>A (n.1505+7C>A) c.1112+7C>A (n.1112+7C>A) c.1574+7C>A (n.1574+7C>A) c.1508+7C>A (n.1508+7C>A) c.539+7C>A (n.539+7C>A) | gnomAD v4 |
20 | g.63414082C= | CA2374778278 | KCNQ2 | c.1577+6G= (n.1577+6G=) c.1631+6G= (n.1631+6G=) c.1028+6G= (n.1028+6G=) c.1538+6G= (n.1538+6G=) c.1199+6G= (n.1199+6G=) c.1547+6G= (n.1547+6G=) c.1511+6G= (n.1511+6G=) c.239+6G= (n.239+6G=) c.1628+6G= (n.1628+6G=) c.1601+6G= (n.1601+6G=) c.1505+6G= (n.1505+6G=) c.1112+6G= (n.1112+6G=) c.1574+6G= (n.1574+6G=) c.1508+6G= (n.1508+6G=) c.539+6G= (n.539+6G=) | |
20 | g.63414082C>T | CA2374778279 | KCNQ2 | c.1577+6G>A (n.1577+6G>A) c.1631+6G>A (n.1631+6G>A) c.1028+6G>A (n.1028+6G>A) c.1538+6G>A (n.1538+6G>A) c.1199+6G>A (n.1199+6G>A) c.1547+6G>A (n.1547+6G>A) c.1511+6G>A (n.1511+6G>A) c.239+6G>A (n.239+6G>A) c.1628+6G>A (n.1628+6G>A) c.1601+6G>A (n.1601+6G>A) c.1505+6G>A (n.1505+6G>A) c.1112+6G>A (n.1112+6G>A) c.1574+6G>A (n.1574+6G>A) c.1508+6G>A (n.1508+6G>A) c.539+6G>A (n.539+6G>A) | dbSNP 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) | |
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=) | |
20 | g.63414112A>C | CA409645219 | KCNQ2 | c.1553T>G (p.Leu518Arg) c.1607T>G (p.Leu536Arg) c.1004T>G (p.Leu335Arg) c.1514T>G (p.Leu505Arg) c.1175T>G (p.Leu392Arg) c.1523T>G (p.Leu508Arg) c.1487T>G (p.Leu496Arg) c.664T>G c.215T>G (p.Leu72Arg) c.1604T>G (p.Leu535Arg) c.1577T>G (p.Leu526Arg) c.1481T>G (p.Leu494Arg) c.1088T>G (p.Leu363Arg) c.1550T>G (p.Leu517Arg) c.1484T>G (p.Leu495Arg) c.515T>G (p.Leu172Arg) | |
20 | g.63414112A>G | CA409645220 | KCNQ2 | c.1553T>C (p.Leu518Pro) c.1607T>C (p.Leu536Pro) c.1004T>C (p.Leu335Pro) c.1514T>C (p.Leu505Pro) c.1175T>C (p.Leu392Pro) c.1523T>C (p.Leu508Pro) c.1487T>C (p.Leu496Pro) c.664T>C c.215T>C (p.Leu72Pro) c.1604T>C (p.Leu535Pro) c.1577T>C (p.Leu526Pro) c.1481T>C (p.Leu494Pro) c.1088T>C (p.Leu363Pro) c.1550T>C (p.Leu517Pro) c.1484T>C (p.Leu495Pro) c.515T>C (p.Leu172Pro) | |
20 | g.63414112A>T | CA409645221 | KCNQ2 | c.1553T>A (p.Leu518His) c.1607T>A (p.Leu536His) c.1004T>A (p.Leu335His) c.1514T>A (p.Leu505His) c.1175T>A (p.Leu392His) c.1523T>A (p.Leu508His) c.1487T>A (p.Leu496His) c.664T>A c.215T>A (p.Leu72His) c.1604T>A (p.Leu535His) c.1577T>A (p.Leu526His) c.1481T>A (p.Leu494His) c.1088T>A (p.Leu363His) c.1550T>A (p.Leu517His) c.1484T>A (p.Leu495His) c.515T>A (p.Leu172His) | |
20 | g.63414113G>A | CA409645224 | KCNQ2 | c.1552C>T (p.Leu518Phe) c.1606C>T (p.Leu536Phe) c.1003C>T (p.Leu335Phe) c.1513C>T (p.Leu505Phe) c.1174C>T (p.Leu392Phe) c.1522C>T (p.Leu508Phe) c.1486C>T (p.Leu496Phe) c.663C>T c.214C>T (p.Leu72Phe) c.1603C>T (p.Leu535Phe) c.1576C>T (p.Leu526Phe) c.1480C>T (p.Leu494Phe) c.1087C>T (p.Leu363Phe) c.1549C>T (p.Leu517Phe) c.1483C>T (p.Leu495Phe) c.514C>T (p.Leu172Phe) | dbSNP gnomAD v4 |
20 | g.63414113G>C | CA409645223 | KCNQ2 | c.1552C>G (p.Leu518Val) c.1606C>G (p.Leu536Val) c.1003C>G (p.Leu335Val) c.1513C>G (p.Leu505Val) c.1174C>G (p.Leu392Val) c.1522C>G (p.Leu508Val) c.1486C>G (p.Leu496Val) c.663C>G c.214C>G (p.Leu72Val) c.1603C>G (p.Leu535Val) c.1576C>G (p.Leu526Val) c.1480C>G (p.Leu494Val) c.1087C>G (p.Leu363Val) c.1549C>G (p.Leu517Val) c.1483C>G (p.Leu495Val) c.514C>G (p.Leu172Val) | |
20 | g.63414113G= | CA2374778294 | KCNQ2 | c.1552C= (p.Leu518=) c.1606C= (p.Leu536=) c.1003C= (p.Leu335=) c.1513C= (p.Leu505=) c.1174C= (p.Leu392=) c.1522C= (p.Leu508=) c.1486C= (p.Leu496=) c.663C= c.214C= (p.Leu72=) c.1603C= (p.Leu535=) c.1576C= (p.Leu526=) c.1480C= (p.Leu494=) c.1087C= (p.Leu363=) c.1549C= (p.Leu517=) c.1483C= (p.Leu495=) c.514C= (p.Leu172=) | |
20 | g.63414113G>T | CA409645222 | KCNQ2 | c.1552C>A (p.Leu518Ile) c.1606C>A (p.Leu536Ile) c.1003C>A (p.Leu335Ile) c.1513C>A (p.Leu505Ile) c.1174C>A (p.Leu392Ile) c.1522C>A (p.Leu508Ile) c.1486C>A (p.Leu496Ile) c.663C>A c.214C>A (p.Leu72Ile) c.1603C>A (p.Leu535Ile) c.1576C>A (p.Leu526Ile) c.1480C>A (p.Leu494Ile) c.1087C>A (p.Leu363Ile) c.1549C>A (p.Leu517Ile) c.1483C>A (p.Leu495Ile) c.514C>A (p.Leu172Ile) | |
20 | g.63414114G>A | CA9958396 | KCNQ2 | c.1551C>T (p.Gly517=) c.1605C>T (p.Gly535=) c.1002C>T (p.Gly334=) c.1512C>T (p.Gly504=) c.1173C>T (p.Gly391=) c.1521C>T (p.Gly507=) c.1485C>T (p.Gly495=) c.662C>T c.213C>T (p.Gly71=) c.1602C>T (p.Gly534=) c.1575C>T (p.Gly525=) c.1479C>T (p.Gly493=) c.1086C>T (p.Gly362=) c.1548C>T (p.Gly516=) c.1482C>T (p.Gly494=) c.513C>T (p.Gly171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414114G>C | CA511203873 | KCNQ2 | c.1551C>G (p.Gly517=) c.1605C>G (p.Gly535=) c.1002C>G (p.Gly334=) c.1512C>G (p.Gly504=) c.1173C>G (p.Gly391=) c.1521C>G (p.Gly507=) c.1485C>G (p.Gly495=) c.662C>G c.213C>G (p.Gly71=) c.1602C>G (p.Gly534=) c.1575C>G (p.Gly525=) c.1479C>G (p.Gly493=) c.1086C>G (p.Gly362=) c.1548C>G (p.Gly516=) c.1482C>G (p.Gly494=) c.513C>G (p.Gly171=) | |
20 | g.63414114G= | CA2374778295 | KCNQ2 | c.1551C= (p.Gly517=) c.1605C= (p.Gly535=) c.1002C= (p.Gly334=) c.1512C= (p.Gly504=) c.1173C= (p.Gly391=) c.1521C= (p.Gly507=) c.1485C= (p.Gly495=) c.662C= c.213C= (p.Gly71=) c.1602C= (p.Gly534=) c.1575C= (p.Gly525=) c.1479C= (p.Gly493=) c.1086C= (p.Gly362=) c.1548C= (p.Gly516=) c.1482C= (p.Gly494=) c.513C= (p.Gly171=) | |
20 | g.63414114G>T | CA511203875 | KCNQ2 | c.1551C>A (p.Gly517=) c.1605C>A (p.Gly535=) c.1002C>A (p.Gly334=) c.1512C>A (p.Gly504=) c.1173C>A (p.Gly391=) c.1521C>A (p.Gly507=) c.1485C>A (p.Gly495=) c.662C>A c.213C>A (p.Gly71=) c.1602C>A (p.Gly534=) c.1575C>A (p.Gly525=) c.1479C>A (p.Gly493=) c.1086C>A (p.Gly362=) c.1548C>A (p.Gly516=) c.1482C>A (p.Gly494=) c.513C>A (p.Gly171=) | |
20 | g.63414115C>A | CA409645227 | KCNQ2 | c.1550G>T (p.Gly517Val) c.1604G>T (p.Gly535Val) c.1001G>T (p.Gly334Val) c.1511G>T (p.Gly504Val) c.1172G>T (p.Gly391Val) c.1520G>T (p.Gly507Val) c.1484G>T (p.Gly495Val) c.661G>T c.212G>T (p.Gly71Val) c.1601G>T (p.Gly534Val) c.1574G>T (p.Gly525Val) c.1478G>T (p.Gly493Val) c.1085G>T (p.Gly362Val) c.1547G>T (p.Gly516Val) c.1481G>T (p.Gly494Val) c.512G>T (p.Gly171Val) | |
20 | g.63414115C>G | CA409645229 | KCNQ2 | c.1550G>C (p.Gly517Ala) c.1604G>C (p.Gly535Ala) c.1001G>C (p.Gly334Ala) c.1511G>C (p.Gly504Ala) c.1172G>C (p.Gly391Ala) c.1520G>C (p.Gly507Ala) c.1484G>C (p.Gly495Ala) c.661G>C c.212G>C (p.Gly71Ala) c.1601G>C (p.Gly534Ala) c.1574G>C (p.Gly525Ala) c.1478G>C (p.Gly493Ala) c.1085G>C (p.Gly362Ala) c.1547G>C (p.Gly516Ala) c.1481G>C (p.Gly494Ala) c.512G>C (p.Gly171Ala) | |
20 | g.63414115C>T | CA409645231 | KCNQ2 | c.1550G>A (p.Gly517Asp) c.1604G>A (p.Gly535Asp) c.1001G>A (p.Gly334Asp) c.1511G>A (p.Gly504Asp) c.1172G>A (p.Gly391Asp) c.1520G>A (p.Gly507Asp) c.1484G>A (p.Gly495Asp) c.661G>A c.212G>A (p.Gly71Asp) c.1601G>A (p.Gly534Asp) c.1574G>A (p.Gly525Asp) c.1478G>A (p.Gly493Asp) c.1085G>A (p.Gly362Asp) c.1547G>A (p.Gly516Asp) c.1481G>A (p.Gly494Asp) c.512G>A (p.Gly171Asp) | |
20 | g.63414117dup | CA10603543 | KCNQ2 | c.1550dup (p.Leu518ProfsTer?) c.1604dup (p.Leu536ProfsTer?) c.1001dup (p.Leu335ProfsTer?) c.1511dup (p.Leu505ProfsTer?) c.1172dup (p.Leu392ProfsTer?) c.1520dup (p.Leu508ProfsTer?) c.1484dup (p.Leu496ProfsTer?) c.661dup c.212dup (p.Leu72ProfsTer?) c.1601dup (p.Leu535ProfsTer?) c.1574dup (p.Leu526ProfsTer?) c.1478dup (p.Leu494ProfsTer?) c.1085dup (p.Leu363ProfsTer?) c.1547dup (p.Leu517ProfsTer?) c.1481dup (p.Leu495ProfsTer?) c.512dup (p.Leu172ProfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC |
20 | g.63414116C>A | CA409645233 | KCNQ2 | c.1549G>T (p.Gly517Cys) c.1603G>T (p.Gly535Cys) c.1000G>T (p.Gly334Cys) c.1510G>T (p.Gly504Cys) c.1171G>T (p.Gly391Cys) c.1519G>T (p.Gly507Cys) c.1483G>T (p.Gly495Cys) c.660G>T c.211G>T (p.Gly71Cys) c.1600G>T (p.Gly534Cys) c.1573G>T (p.Gly525Cys) c.1477G>T (p.Gly493Cys) c.1084G>T (p.Gly362Cys) c.1546G>T (p.Gly516Cys) c.1480G>T (p.Gly494Cys) c.511G>T (p.Gly171Cys) | |
20 | g.63414116C>G | CA409645234 | KCNQ2 | c.1549G>C (p.Gly517Arg) c.1603G>C (p.Gly535Arg) c.1000G>C (p.Gly334Arg) c.1510G>C (p.Gly504Arg) c.1171G>C (p.Gly391Arg) c.1519G>C (p.Gly507Arg) c.1483G>C (p.Gly495Arg) c.660G>C c.211G>C (p.Gly71Arg) c.1600G>C (p.Gly534Arg) c.1573G>C (p.Gly525Arg) c.1477G>C (p.Gly493Arg) c.1084G>C (p.Gly362Arg) c.1546G>C (p.Gly516Arg) c.1480G>C (p.Gly494Arg) c.511G>C (p.Gly171Arg) | |
20 | g.63414116C>T | CA409645236 | KCNQ2 | c.1549G>A (p.Gly517Ser) c.1603G>A (p.Gly535Ser) c.1000G>A (p.Gly334Ser) c.1510G>A (p.Gly504Ser) c.1171G>A (p.Gly391Ser) c.1519G>A (p.Gly507Ser) c.1483G>A (p.Gly495Ser) c.660G>A c.211G>A (p.Gly71Ser) c.1600G>A (p.Gly534Ser) c.1573G>A (p.Gly525Ser) c.1477G>A (p.Gly493Ser) c.1084G>A (p.Gly362Ser) c.1546G>A (p.Gly516Ser) c.1480G>A (p.Gly494Ser) c.511G>A (p.Gly171Ser) | ClinVar |
20 | g.63414117C>A | CA511203876 | KCNQ2 | c.1548G>T (p.Pro516=) c.1602G>T (p.Pro534=) c.999G>T (p.Pro333=) c.1509G>T (p.Pro503=) c.1170G>T (p.Pro390=) c.1518G>T (p.Pro506=) c.1482G>T (p.Pro494=) c.659G>T c.210G>T (p.Pro70=) c.1599G>T (p.Pro533=) c.1572G>T (p.Pro524=) c.1476G>T (p.Pro492=) c.1083G>T (p.Pro361=) c.1545G>T (p.Pro515=) c.1479G>T (p.Pro493=) c.510G>T (p.Pro170=) | gnomAD v4 |
20 | g.63414117C= | CA2374778296 | KCNQ2 | c.1548G= (p.Pro516=) c.1602G= (p.Pro534=) c.999G= (p.Pro333=) c.1509G= (p.Pro503=) c.1170G= (p.Pro390=) c.1518G= (p.Pro506=) c.1482G= (p.Pro494=) c.659G= c.210G= (p.Pro70=) c.1599G= (p.Pro533=) c.1572G= (p.Pro524=) c.1476G= (p.Pro492=) c.1083G= (p.Pro361=) c.1545G= (p.Pro515=) c.1479G= (p.Pro493=) c.510G= (p.Pro170=) | |
20 | g.63414117C>G | CA511203877 | KCNQ2 | c.1548G>C (p.Pro516=) c.1602G>C (p.Pro534=) c.999G>C (p.Pro333=) c.1509G>C (p.Pro503=) c.1170G>C (p.Pro390=) c.1518G>C (p.Pro506=) c.1482G>C (p.Pro494=) c.659G>C c.210G>C (p.Pro70=) c.1599G>C (p.Pro533=) c.1572G>C (p.Pro524=) c.1476G>C (p.Pro492=) c.1083G>C (p.Pro361=) c.1545G>C (p.Pro515=) c.1479G>C (p.Pro493=) c.510G>C (p.Pro170=) | |
20 | g.63414117C>T | CA9958397 | KCNQ2 | c.1548G>A (p.Pro516=) c.1602G>A (p.Pro534=) c.999G>A (p.Pro333=) c.1509G>A (p.Pro503=) c.1170G>A (p.Pro390=) c.1518G>A (p.Pro506=) c.1482G>A (p.Pro494=) c.659G>A c.210G>A (p.Pro70=) c.1599G>A (p.Pro533=) c.1572G>A (p.Pro524=) c.1476G>A (p.Pro492=) c.1083G>A (p.Pro361=) c.1545G>A (p.Pro515=) c.1479G>A (p.Pro493=) c.510G>A (p.Pro170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414118G>A | CA317429728 | KCNQ2 | c.1547C>T (p.Pro516Leu) c.1601C>T (p.Pro534Leu) c.998C>T (p.Pro333Leu) c.1508C>T (p.Pro503Leu) c.1169C>T (p.Pro390Leu) c.1517C>T (p.Pro506Leu) c.1481C>T (p.Pro494Leu) c.658C>T c.209C>T (p.Pro70Leu) c.1598C>T (p.Pro533Leu) c.1571C>T (p.Pro524Leu) c.1475C>T (p.Pro492Leu) c.1082C>T (p.Pro361Leu) c.1544C>T (p.Pro515Leu) c.1478C>T (p.Pro493Leu) c.509C>T (p.Pro170Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63414118G>C | CA409645242 | KCNQ2 | c.1547C>G (p.Pro516Arg) c.1601C>G (p.Pro534Arg) c.998C>G (p.Pro333Arg) c.1508C>G (p.Pro503Arg) c.1169C>G (p.Pro390Arg) c.1517C>G (p.Pro506Arg) c.1481C>G (p.Pro494Arg) c.658C>G c.209C>G (p.Pro70Arg) c.1598C>G (p.Pro533Arg) c.1571C>G (p.Pro524Arg) c.1475C>G (p.Pro492Arg) c.1082C>G (p.Pro361Arg) c.1544C>G (p.Pro515Arg) c.1478C>G (p.Pro493Arg) c.509C>G (p.Pro170Arg) | |
20 | g.63414118G= | CA2374778297 | KCNQ2 | c.1547C= (p.Pro516=) c.1601C= (p.Pro534=) c.998C= (p.Pro333=) c.1508C= (p.Pro503=) c.1169C= (p.Pro390=) c.1517C= (p.Pro506=) c.1481C= (p.Pro494=) c.658C= c.209C= (p.Pro70=) c.1598C= (p.Pro533=) c.1571C= (p.Pro524=) c.1475C= (p.Pro492=) c.1082C= (p.Pro361=) c.1544C= (p.Pro515=) c.1478C= (p.Pro493=) c.509C= (p.Pro170=) | |
20 | g.63414118G>T | CA409645248 | KCNQ2 | c.1547C>A (p.Pro516Gln) c.1601C>A (p.Pro534Gln) c.998C>A (p.Pro333Gln) c.1508C>A (p.Pro503Gln) c.1169C>A (p.Pro390Gln) c.1517C>A (p.Pro506Gln) c.1481C>A (p.Pro494Gln) c.658C>A c.209C>A (p.Pro70Gln) c.1598C>A (p.Pro533Gln) c.1571C>A (p.Pro524Gln) c.1475C>A (p.Pro492Gln) c.1082C>A (p.Pro361Gln) c.1544C>A (p.Pro515Gln) c.1478C>A (p.Pro493Gln) c.509C>A (p.Pro170Gln) | gnomAD v4 |
20 | g.63414121del | CA2697547456 | KCNQ2 | c.1547del (p.Pro516ArgfsTer?) c.1601del (p.Pro534ArgfsTer?) c.998del (p.Pro333ArgfsTer?) c.1508del (p.Pro503ArgfsTer?) c.1169del (p.Pro390ArgfsTer?) c.1517del (p.Pro506ArgfsTer?) c.1481del (p.Pro494ArgfsTer?) c.658del c.209del (p.Pro70ArgfsTer?) c.1598del (p.Pro533ArgfsTer?) c.1571del (p.Pro524ArgfsTer?) c.1475del (p.Pro492ArgfsTer?) c.1082del (p.Pro361ArgfsTer?) c.1544del (p.Pro515ArgfsTer?) c.1478del (p.Pro493ArgfsTer?) c.509del (p.Pro170ArgfsTer?) | ClinVar |
20 | g.63414119G>A | CA9958398 | KCNQ2 | c.1546C>T (p.Pro516Ser) c.1600C>T (p.Pro534Ser) c.997C>T (p.Pro333Ser) c.1507C>T (p.Pro503Ser) c.1168C>T (p.Pro390Ser) c.1516C>T (p.Pro506Ser) c.1480C>T (p.Pro494Ser) c.657C>T c.208C>T (p.Pro70Ser) c.1597C>T (p.Pro533Ser) c.1570C>T (p.Pro524Ser) c.1474C>T (p.Pro492Ser) c.1081C>T (p.Pro361Ser) c.1543C>T (p.Pro515Ser) c.1477C>T (p.Pro493Ser) c.508C>T (p.Pro170Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63414119G>C | CA409645253 | KCNQ2 | c.1546C>G (p.Pro516Ala) c.1600C>G (p.Pro534Ala) c.997C>G (p.Pro333Ala) c.1507C>G (p.Pro503Ala) c.1168C>G (p.Pro390Ala) c.1516C>G (p.Pro506Ala) c.1480C>G (p.Pro494Ala) c.657C>G c.208C>G (p.Pro70Ala) c.1597C>G (p.Pro533Ala) c.1570C>G (p.Pro524Ala) c.1474C>G (p.Pro492Ala) c.1081C>G (p.Pro361Ala) c.1543C>G (p.Pro515Ala) c.1477C>G (p.Pro493Ala) c.508C>G (p.Pro170Ala) | |
20 | g.63414119G= | CA2374778298 | KCNQ2 | c.1546C= (p.Pro516=) c.1600C= (p.Pro534=) c.997C= (p.Pro333=) c.1507C= (p.Pro503=) c.1168C= (p.Pro390=) c.1516C= (p.Pro506=) c.1480C= (p.Pro494=) c.657C= c.208C= (p.Pro70=) c.1597C= (p.Pro533=) c.1570C= (p.Pro524=) c.1474C= (p.Pro492=) c.1081C= (p.Pro361=) c.1543C= (p.Pro515=) c.1477C= (p.Pro493=) c.508C= (p.Pro170=) | |
20 | g.63414119G>T | CA409645259 | KCNQ2 | c.1546C>A (p.Pro516Thr) c.1600C>A (p.Pro534Thr) c.997C>A (p.Pro333Thr) c.1507C>A (p.Pro503Thr) c.1168C>A (p.Pro390Thr) c.1516C>A (p.Pro506Thr) c.1480C>A (p.Pro494Thr) c.657C>A c.208C>A (p.Pro70Thr) c.1597C>A (p.Pro533Thr) c.1570C>A (p.Pro524Thr) c.1474C>A (p.Pro492Thr) c.1081C>A (p.Pro361Thr) c.1543C>A (p.Pro515Thr) c.1477C>A (p.Pro493Thr) c.508C>A (p.Pro170Thr) | COSMIC COSMIC COSMIC |
20 | g.63414120G>A | CA511203883 | KCNQ2 | c.1545C>T (p.Thr515=) c.1599C>T (p.Thr533=) c.996C>T (p.Thr332=) c.1506C>T (p.Thr502=) c.1167C>T (p.Thr389=) c.1515C>T (p.Thr505=) c.1479C>T (p.Thr493=) c.656C>T c.207C>T (p.Thr69=) c.1596C>T (p.Thr532=) c.1569C>T (p.Thr523=) c.1473C>T (p.Thr491=) c.1080C>T (p.Thr360=) c.1542C>T (p.Thr514=) c.1476C>T (p.Thr492=) c.507C>T (p.Thr169=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63414120G>C | CA511203881 | KCNQ2 | c.1545C>G (p.Thr515=) c.1599C>G (p.Thr533=) c.996C>G (p.Thr332=) c.1506C>G (p.Thr502=) c.1167C>G (p.Thr389=) c.1515C>G (p.Thr505=) c.1479C>G (p.Thr493=) c.656C>G c.207C>G (p.Thr69=) c.1596C>G (p.Thr532=) c.1569C>G (p.Thr523=) c.1473C>G (p.Thr491=) c.1080C>G (p.Thr360=) c.1542C>G (p.Thr514=) c.1476C>G (p.Thr492=) c.507C>G (p.Thr169=) | |
20 | g.63414120G= | CA2374778299 | KCNQ2 | c.1545C= (p.Thr515=) c.1599C= (p.Thr533=) c.996C= (p.Thr332=) c.1506C= (p.Thr502=) c.1167C= (p.Thr389=) c.1515C= (p.Thr505=) c.1479C= (p.Thr493=) c.656C= c.207C= (p.Thr69=) c.1596C= (p.Thr532=) c.1569C= (p.Thr523=) c.1473C= (p.Thr491=) c.1080C= (p.Thr360=) c.1542C= (p.Thr514=) c.1476C= (p.Thr492=) c.507C= (p.Thr169=) | |
20 | g.63414120G>T | CA511203882 | KCNQ2 | c.1545C>A (p.Thr515=) c.1599C>A (p.Thr533=) c.996C>A (p.Thr332=) c.1506C>A (p.Thr502=) c.1167C>A (p.Thr389=) c.1515C>A (p.Thr505=) c.1479C>A (p.Thr493=) c.656C>A c.207C>A (p.Thr69=) c.1596C>A (p.Thr532=) c.1569C>A (p.Thr523=) c.1473C>A (p.Thr491=) c.1080C>A (p.Thr360=) c.1542C>A (p.Thr514=) c.1476C>A (p.Thr492=) c.507C>A (p.Thr169=) | |
20 | g.63414121G>A | CA409645274 | KCNQ2 | c.1544C>T (p.Thr515Ile) c.1598C>T (p.Thr533Ile) c.995C>T (p.Thr332Ile) c.1505C>T (p.Thr502Ile) c.1166C>T (p.Thr389Ile) c.1514C>T (p.Thr505Ile) c.1478C>T (p.Thr493Ile) c.655C>T c.206C>T (p.Thr69Ile) c.1595C>T (p.Thr532Ile) c.1568C>T (p.Thr523Ile) c.1472C>T (p.Thr491Ile) c.1079C>T (p.Thr360Ile) c.1541C>T (p.Thr514Ile) c.1475C>T (p.Thr492Ile) c.506C>T (p.Thr169Ile) | |
20 | g.63414121G>C | CA409645277 | KCNQ2 | c.1544C>G (p.Thr515Ser) c.1598C>G (p.Thr533Ser) c.995C>G (p.Thr332Ser) c.1505C>G (p.Thr502Ser) c.1166C>G (p.Thr389Ser) c.1514C>G (p.Thr505Ser) c.1478C>G (p.Thr493Ser) c.655C>G c.206C>G (p.Thr69Ser) c.1595C>G (p.Thr532Ser) c.1568C>G (p.Thr523Ser) c.1472C>G (p.Thr491Ser) c.1079C>G (p.Thr360Ser) c.1541C>G (p.Thr514Ser) c.1475C>G (p.Thr492Ser) c.506C>G (p.Thr169Ser) | |
20 | g.63414121G>T | CA409645262 | KCNQ2 | c.1544C>A (p.Thr515Asn) c.1598C>A (p.Thr533Asn) c.995C>A (p.Thr332Asn) c.1505C>A (p.Thr502Asn) c.1166C>A (p.Thr389Asn) c.1514C>A (p.Thr505Asn) c.1478C>A (p.Thr493Asn) c.655C>A c.206C>A (p.Thr69Asn) c.1595C>A (p.Thr532Asn) c.1568C>A (p.Thr523Asn) c.1472C>A (p.Thr491Asn) c.1079C>A (p.Thr360Asn) c.1541C>A (p.Thr514Asn) c.1475C>A (p.Thr492Asn) c.506C>A (p.Thr169Asn) | ClinVar |
20 | g.63414122T>A | CA409645280 | KCNQ2 | c.1543A>T (p.Thr515Ser) c.1597A>T (p.Thr533Ser) c.994A>T (p.Thr332Ser) c.1504A>T (p.Thr502Ser) c.1165A>T (p.Thr389Ser) c.1513A>T (p.Thr505Ser) c.1477A>T (p.Thr493Ser) c.654A>T c.205A>T (p.Thr69Ser) c.1594A>T (p.Thr532Ser) c.1567A>T (p.Thr523Ser) c.1471A>T (p.Thr491Ser) c.1078A>T (p.Thr360Ser) c.1540A>T (p.Thr514Ser) c.1474A>T (p.Thr492Ser) c.505A>T (p.Thr169Ser) | |
20 | g.63414122T>C | CA409645283 | KCNQ2 | c.1543A>G (p.Thr515Ala) c.1597A>G (p.Thr533Ala) c.994A>G (p.Thr332Ala) c.1504A>G (p.Thr502Ala) c.1165A>G (p.Thr389Ala) c.1513A>G (p.Thr505Ala) c.1477A>G (p.Thr493Ala) c.654A>G c.205A>G (p.Thr69Ala) c.1594A>G (p.Thr532Ala) c.1567A>G (p.Thr523Ala) c.1471A>G (p.Thr491Ala) c.1078A>G (p.Thr360Ala) c.1540A>G (p.Thr514Ala) c.1474A>G (p.Thr492Ala) c.505A>G (p.Thr169Ala) | |
20 | g.63414122T>G | CA409645296 | KCNQ2 | c.1543A>C (p.Thr515Pro) c.1597A>C (p.Thr533Pro) c.994A>C (p.Thr332Pro) c.1504A>C (p.Thr502Pro) c.1165A>C (p.Thr389Pro) c.1513A>C (p.Thr505Pro) c.1477A>C (p.Thr493Pro) c.654A>C c.205A>C (p.Thr69Pro) c.1594A>C (p.Thr532Pro) c.1567A>C (p.Thr523Pro) c.1471A>C (p.Thr491Pro) c.1078A>C (p.Thr360Pro) c.1540A>C (p.Thr514Pro) c.1474A>C (p.Thr492Pro) c.505A>C (p.Thr169Pro) | dbSNP |
20 | g.63414122T= | CA2374778300 | KCNQ2 | c.1543A= (p.Thr515=) c.1597A= (p.Thr533=) c.994A= (p.Thr332=) c.1504A= (p.Thr502=) c.1165A= (p.Thr389=) c.1513A= (p.Thr505=) c.1477A= (p.Thr493=) c.654A= c.205A= (p.Thr69=) c.1594A= (p.Thr532=) c.1567A= (p.Thr523=) c.1471A= (p.Thr491=) c.1078A= (p.Thr360=) c.1540A= (p.Thr514=) c.1474A= (p.Thr492=) c.505A= (p.Thr169=) | |
20 | g.63414123C>A | CA511203884 | KCNQ2 | c.1542G>T (p.Leu514=) c.1596G>T (p.Leu532=) c.993G>T (p.Leu331=) c.1503G>T (p.Leu501=) c.1164G>T (p.Leu388=) c.1512G>T (p.Leu504=) c.1476G>T (p.Leu492=) c.653G>T c.204G>T (p.Leu68=) c.1593G>T (p.Leu531=) c.1566G>T (p.Leu522=) c.1470G>T (p.Leu490=) c.1077G>T (p.Leu359=) c.1539G>T (p.Leu513=) c.1473G>T (p.Leu491=) c.504G>T (p.Leu168=) | |
20 | g.63414123C>G | CA511203886 | KCNQ2 | c.1542G>C (p.Leu514=) c.1596G>C (p.Leu532=) c.993G>C (p.Leu331=) c.1503G>C (p.Leu501=) c.1164G>C (p.Leu388=) c.1512G>C (p.Leu504=) c.1476G>C (p.Leu492=) c.653G>C c.204G>C (p.Leu68=) c.1593G>C (p.Leu531=) c.1566G>C (p.Leu522=) c.1470G>C (p.Leu490=) c.1077G>C (p.Leu359=) c.1539G>C (p.Leu513=) c.1473G>C (p.Leu491=) c.504G>C (p.Leu168=) | |
20 | g.63414123C>T | CA511203885 | KCNQ2 | c.1542G>A (p.Leu514=) c.1596G>A (p.Leu532=) c.993G>A (p.Leu331=) c.1503G>A (p.Leu501=) c.1164G>A (p.Leu388=) c.1512G>A (p.Leu504=) c.1476G>A (p.Leu492=) c.653G>A c.204G>A (p.Leu68=) c.1593G>A (p.Leu531=) c.1566G>A (p.Leu522=) c.1470G>A (p.Leu490=) c.1077G>A (p.Leu359=) c.1539G>A (p.Leu513=) c.1473G>A (p.Leu491=) c.504G>A (p.Leu168=) | |
20 | g.63414124A= | CA2374778301 | KCNQ2 | c.1541T= (p.Leu514=) c.1595T= (p.Leu532=) c.992T= (p.Leu331=) c.1502T= (p.Leu501=) c.1163T= (p.Leu388=) c.1511T= (p.Leu504=) c.1475T= (p.Leu492=) c.652T= c.203T= (p.Leu68=) c.1592T= (p.Leu531=) c.1565T= (p.Leu522=) c.1469T= (p.Leu490=) c.1076T= (p.Leu359=) c.1538T= (p.Leu513=) c.1472T= (p.Leu491=) c.503T= (p.Leu168=) | |
20 | g.63414124A>C | CA409645299 | KCNQ2 | c.1541T>G (p.Leu514Arg) c.1595T>G (p.Leu532Arg) c.992T>G (p.Leu331Arg) c.1502T>G (p.Leu501Arg) c.1163T>G (p.Leu388Arg) c.1511T>G (p.Leu504Arg) c.1475T>G (p.Leu492Arg) c.652T>G c.203T>G (p.Leu68Arg) c.1592T>G (p.Leu531Arg) c.1565T>G (p.Leu522Arg) c.1469T>G (p.Leu490Arg) c.1076T>G (p.Leu359Arg) c.1538T>G (p.Leu513Arg) c.1472T>G (p.Leu491Arg) c.503T>G (p.Leu168Arg) | |
20 | g.63414124A>G | CA409645303 | KCNQ2 | c.1541T>C (p.Leu514Pro) c.1595T>C (p.Leu532Pro) c.992T>C (p.Leu331Pro) c.1502T>C (p.Leu501Pro) c.1163T>C (p.Leu388Pro) c.1511T>C (p.Leu504Pro) c.1475T>C (p.Leu492Pro) c.652T>C c.203T>C (p.Leu68Pro) c.1592T>C (p.Leu531Pro) c.1565T>C (p.Leu522Pro) c.1469T>C (p.Leu490Pro) c.1076T>C (p.Leu359Pro) c.1538T>C (p.Leu513Pro) c.1472T>C (p.Leu491Pro) c.503T>C (p.Leu168Pro) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63414124A>T | CA409645305 | KCNQ2 | c.1541T>A (p.Leu514Gln) c.1595T>A (p.Leu532Gln) c.992T>A (p.Leu331Gln) c.1502T>A (p.Leu501Gln) c.1163T>A (p.Leu388Gln) c.1511T>A (p.Leu504Gln) c.1475T>A (p.Leu492Gln) c.652T>A c.203T>A (p.Leu68Gln) c.1592T>A (p.Leu531Gln) c.1565T>A (p.Leu522Gln) c.1469T>A (p.Leu490Gln) c.1076T>A (p.Leu359Gln) c.1538T>A (p.Leu513Gln) c.1472T>A (p.Leu491Gln) c.503T>A (p.Leu168Gln) | |
20 | g.63414125G>A | CA511203887 | KCNQ2 | c.1540C>T (p.Leu514=) c.1594C>T (p.Leu532=) c.991C>T (p.Leu331=) c.1501C>T (p.Leu501=) c.1162C>T (p.Leu388=) c.1510C>T (p.Leu504=) c.1474C>T (p.Leu492=) c.651C>T c.202C>T (p.Leu68=) c.1591C>T (p.Leu531=) c.1564C>T (p.Leu522=) c.1468C>T (p.Leu490=) c.1075C>T (p.Leu359=) c.1537C>T (p.Leu513=) c.1471C>T (p.Leu491=) c.502C>T (p.Leu168=) | |
20 | g.63414125G>C | CA409645309 | KCNQ2 | c.1540C>G (p.Leu514Val) c.1594C>G (p.Leu532Val) c.991C>G (p.Leu331Val) c.1501C>G (p.Leu501Val) c.1162C>G (p.Leu388Val) c.1510C>G (p.Leu504Val) c.1474C>G (p.Leu492Val) c.651C>G c.202C>G (p.Leu68Val) c.1591C>G (p.Leu531Val) c.1564C>G (p.Leu522Val) c.1468C>G (p.Leu490Val) c.1075C>G (p.Leu359Val) c.1537C>G (p.Leu513Val) c.1471C>G (p.Leu491Val) c.502C>G (p.Leu168Val) | gnomAD v4 |
20 | g.63414125G>T | CA409645314 | KCNQ2 | c.1540C>A (p.Leu514Met) c.1594C>A (p.Leu532Met) c.991C>A (p.Leu331Met) c.1501C>A (p.Leu501Met) c.1162C>A (p.Leu388Met) c.1510C>A (p.Leu504Met) c.1474C>A (p.Leu492Met) c.651C>A c.202C>A (p.Leu68Met) c.1591C>A (p.Leu531Met) c.1564C>A (p.Leu522Met) c.1468C>A (p.Leu490Met) c.1075C>A (p.Leu359Met) c.1537C>A (p.Leu513Met) c.1471C>A (p.Leu491Met) c.502C>A (p.Leu168Met) | |
20 | g.63414126G>A | CA511203888 | KCNQ2 | c.1539C>T (p.Asp513=) c.1593C>T (p.Asp531=) c.990C>T (p.Asp330=) c.1500C>T (p.Asp500=) c.1161C>T (p.Asp387=) c.1509C>T (p.Asp503=) c.1473C>T (p.Asp491=) c.650C>T c.201C>T (p.Asp67=) c.1590C>T (p.Asp530=) c.1563C>T (p.Asp521=) c.1467C>T (p.Asp489=) c.1074C>T (p.Asp358=) c.1536C>T (p.Asp512=) c.1470C>T (p.Asp490=) c.501C>T (p.Asp167=) | ClinVar dbSNP |
20 | g.63414126G>C | CA409645317 | KCNQ2 | c.1539C>G (p.Asp513Glu) c.1593C>G (p.Asp531Glu) c.990C>G (p.Asp330Glu) c.1500C>G (p.Asp500Glu) c.1161C>G (p.Asp387Glu) c.1509C>G (p.Asp503Glu) c.1473C>G (p.Asp491Glu) c.650C>G c.201C>G (p.Asp67Glu) c.1590C>G (p.Asp530Glu) c.1563C>G (p.Asp521Glu) c.1467C>G (p.Asp489Glu) c.1074C>G (p.Asp358Glu) c.1536C>G (p.Asp512Glu) c.1470C>G (p.Asp490Glu) c.501C>G (p.Asp167Glu) | |
20 | g.63414126G= | CA2374778302 | KCNQ2 | c.1539C= (p.Asp513=) c.1593C= (p.Asp531=) c.990C= (p.Asp330=) c.1500C= (p.Asp500=) c.1161C= (p.Asp387=) c.1509C= (p.Asp503=) c.1473C= (p.Asp491=) c.650C= c.201C= (p.Asp67=) c.1590C= (p.Asp530=) c.1563C= (p.Asp521=) c.1467C= (p.Asp489=) c.1074C= (p.Asp358=) c.1536C= (p.Asp512=) c.1470C= (p.Asp490=) c.501C= (p.Asp167=) | |
20 | g.63414126G>T | CA409645320 | KCNQ2 | c.1539C>A (p.Asp513Glu) c.1593C>A (p.Asp531Glu) c.990C>A (p.Asp330Glu) c.1500C>A (p.Asp500Glu) c.1161C>A (p.Asp387Glu) c.1509C>A (p.Asp503Glu) c.1473C>A (p.Asp491Glu) c.650C>A c.201C>A (p.Asp67Glu) c.1590C>A (p.Asp530Glu) c.1563C>A (p.Asp521Glu) c.1467C>A (p.Asp489Glu) c.1074C>A (p.Asp358Glu) c.1536C>A (p.Asp512Glu) c.1470C>A (p.Asp490Glu) c.501C>A (p.Asp167Glu) | |
20 | g.63414127T>A | CA409645327 | KCNQ2 | c.1538A>T (p.Asp513Val) c.1592A>T (p.Asp531Val) c.989A>T (p.Asp330Val) c.1499A>T (p.Asp500Val) c.1160A>T (p.Asp387Val) c.1508A>T (p.Asp503Val) c.1472A>T (p.Asp491Val) c.649A>T c.200A>T (p.Asp67Val) c.1589A>T (p.Asp530Val) c.1562A>T (p.Asp521Val) c.1466A>T (p.Asp489Val) c.1073A>T (p.Asp358Val) c.1535A>T (p.Asp512Val) c.1469A>T (p.Asp490Val) c.500A>T (p.Asp167Val) | ClinVar dbSNP |
20 | g.63414127T>C | CA409645344 | KCNQ2 | c.1538A>G (p.Asp513Gly) c.1592A>G (p.Asp531Gly) c.989A>G (p.Asp330Gly) c.1499A>G (p.Asp500Gly) c.1160A>G (p.Asp387Gly) c.1508A>G (p.Asp503Gly) c.1472A>G (p.Asp491Gly) c.649A>G c.200A>G (p.Asp67Gly) c.1589A>G (p.Asp530Gly) c.1562A>G (p.Asp521Gly) c.1466A>G (p.Asp489Gly) c.1073A>G (p.Asp358Gly) c.1535A>G (p.Asp512Gly) c.1469A>G (p.Asp490Gly) c.500A>G (p.Asp167Gly) | |
20 | g.63414127T>G | CA409645347 | KCNQ2 | c.1538A>C (p.Asp513Ala) c.1592A>C (p.Asp531Ala) c.989A>C (p.Asp330Ala) c.1499A>C (p.Asp500Ala) c.1160A>C (p.Asp387Ala) c.1508A>C (p.Asp503Ala) c.1472A>C (p.Asp491Ala) c.649A>C c.200A>C (p.Asp67Ala) c.1589A>C (p.Asp530Ala) c.1562A>C (p.Asp521Ala) c.1466A>C (p.Asp489Ala) c.1073A>C (p.Asp358Ala) c.1535A>C (p.Asp512Ala) c.1469A>C (p.Asp490Ala) c.500A>C (p.Asp167Ala) | |
20 | g.63414127T= | CA2374778303 | KCNQ2 | c.1538A= (p.Asp513=) c.1592A= (p.Asp531=) c.989A= (p.Asp330=) c.1499A= (p.Asp500=) c.1160A= (p.Asp387=) c.1508A= (p.Asp503=) c.1472A= (p.Asp491=) c.649A= c.200A= (p.Asp67=) c.1589A= (p.Asp530=) c.1562A= (p.Asp521=) c.1466A= (p.Asp489=) c.1073A= (p.Asp358=) c.1535A= (p.Asp512=) c.1469A= (p.Asp490=) c.500A= (p.Asp167=) | |
20 | g.63414128C>A | CA409645355 | KCNQ2 | c.1537G>T (p.Asp513Tyr) c.1591G>T (p.Asp531Tyr) c.988G>T (p.Asp330Tyr) c.1498G>T (p.Asp500Tyr) c.1159G>T (p.Asp387Tyr) c.1507G>T (p.Asp503Tyr) c.1471G>T (p.Asp491Tyr) c.648G>T c.199G>T (p.Asp67Tyr) c.1588G>T (p.Asp530Tyr) c.1561G>T (p.Asp521Tyr) c.1465G>T (p.Asp489Tyr) c.1072G>T (p.Asp358Tyr) c.1534G>T (p.Asp512Tyr) c.1468G>T (p.Asp490Tyr) c.499G>T (p.Asp167Tyr) | |
20 | g.63414128C>G | CA409645350 | KCNQ2 | c.1537G>C (p.Asp513His) c.1591G>C (p.Asp531His) c.988G>C (p.Asp330His) c.1498G>C (p.Asp500His) c.1159G>C (p.Asp387His) c.1507G>C (p.Asp503His) c.1471G>C (p.Asp491His) c.648G>C c.199G>C (p.Asp67His) c.1588G>C (p.Asp530His) c.1561G>C (p.Asp521His) c.1465G>C (p.Asp489His) c.1072G>C (p.Asp358His) c.1534G>C (p.Asp512His) c.1468G>C (p.Asp490His) c.499G>C (p.Asp167His) | |
20 | g.63414128C>T | CA409645353 | KCNQ2 | c.1537G>A (p.Asp513Asn) c.1591G>A (p.Asp531Asn) c.988G>A (p.Asp330Asn) c.1498G>A (p.Asp500Asn) c.1159G>A (p.Asp387Asn) c.1507G>A (p.Asp503Asn) c.1471G>A (p.Asp491Asn) c.648G>A c.199G>A (p.Asp67Asn) c.1588G>A (p.Asp530Asn) c.1561G>A (p.Asp521Asn) c.1465G>A (p.Asp489Asn) c.1072G>A (p.Asp358Asn) c.1534G>A (p.Asp512Asn) c.1468G>A (p.Asp490Asn) c.499G>A (p.Asp167Asn) | |
20 | g.63414129C>A | CA409645362 | KCNQ2 | c.1536G>T (p.Glu512Asp) c.1590G>T (p.Glu530Asp) c.987G>T (p.Glu329Asp) c.1497G>T (p.Glu499Asp) c.1158G>T (p.Glu386Asp) c.1506G>T (p.Glu502Asp) c.1470G>T (p.Glu490Asp) c.647G>T c.198G>T (p.Glu66Asp) c.1587G>T (p.Glu529Asp) c.1560G>T (p.Glu520Asp) c.1464G>T (p.Glu488Asp) c.1071G>T (p.Glu357Asp) c.1533G>T (p.Glu511Asp) c.1467G>T (p.Glu489Asp) c.498G>T (p.Glu166Asp) | |
20 | g.63414129C>G | CA409645366 | KCNQ2 | c.1536G>C (p.Glu512Asp) c.1590G>C (p.Glu530Asp) c.987G>C (p.Glu329Asp) c.1497G>C (p.Glu499Asp) c.1158G>C (p.Glu386Asp) c.1506G>C (p.Glu502Asp) c.1470G>C (p.Glu490Asp) c.647G>C c.198G>C (p.Glu66Asp) c.1587G>C (p.Glu529Asp) c.1560G>C (p.Glu520Asp) c.1464G>C (p.Glu488Asp) c.1071G>C (p.Glu357Asp) c.1533G>C (p.Glu511Asp) c.1467G>C (p.Glu489Asp) c.498G>C (p.Glu166Asp) | |
20 | g.63414129C>T | CA511203892 | KCNQ2 | c.1536G>A (p.Glu512=) c.1590G>A (p.Glu530=) c.987G>A (p.Glu329=) c.1497G>A (p.Glu499=) c.1158G>A (p.Glu386=) c.1506G>A (p.Glu502=) c.1470G>A (p.Glu490=) c.647G>A c.198G>A (p.Glu66=) c.1587G>A (p.Glu529=) c.1560G>A (p.Glu520=) c.1464G>A (p.Glu488=) c.1071G>A (p.Glu357=) c.1533G>A (p.Glu511=) c.1467G>A (p.Glu489=) c.498G>A (p.Glu166=) | gnomAD v4 |
20 | g.63414130T>A | CA409645369 | KCNQ2 | c.1535A>T (p.Glu512Val) c.1589A>T (p.Glu530Val) c.986A>T (p.Glu329Val) c.1496A>T (p.Glu499Val) c.1157A>T (p.Glu386Val) c.1505A>T (p.Glu502Val) c.1469A>T (p.Glu490Val) c.646A>T c.197A>T (p.Glu66Val) c.1586A>T (p.Glu529Val) c.1559A>T (p.Glu520Val) c.1463A>T (p.Glu488Val) c.1070A>T (p.Glu357Val) c.1532A>T (p.Glu511Val) c.1466A>T (p.Glu489Val) c.497A>T (p.Glu166Val) | |
20 | g.63414130T>C | CA409645370 | KCNQ2 | c.1535A>G (p.Glu512Gly) c.1589A>G (p.Glu530Gly) c.986A>G (p.Glu329Gly) c.1496A>G (p.Glu499Gly) c.1157A>G (p.Glu386Gly) c.1505A>G (p.Glu502Gly) c.1469A>G (p.Glu490Gly) c.646A>G c.197A>G (p.Glu66Gly) c.1586A>G (p.Glu529Gly) c.1559A>G (p.Glu520Gly) c.1463A>G (p.Glu488Gly) c.1070A>G (p.Glu357Gly) c.1532A>G (p.Glu511Gly) c.1466A>G (p.Glu489Gly) c.497A>G (p.Glu166Gly) | |
20 | g.63414130T>G | CA9958399 | KCNQ2 | c.1535A>C (p.Glu512Ala) c.1589A>C (p.Glu530Ala) c.986A>C (p.Glu329Ala) c.1496A>C (p.Glu499Ala) c.1157A>C (p.Glu386Ala) c.1505A>C (p.Glu502Ala) c.1469A>C (p.Glu490Ala) c.646A>C c.197A>C (p.Glu66Ala) c.1586A>C (p.Glu529Ala) c.1559A>C (p.Glu520Ala) c.1463A>C (p.Glu488Ala) c.1070A>C (p.Glu357Ala) c.1532A>C (p.Glu511Ala) c.1466A>C (p.Glu489Ala) c.497A>C (p.Glu166Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63414130T= | CA2374778304 | KCNQ2 | c.1535A= (p.Glu512=) c.1589A= (p.Glu530=) c.986A= (p.Glu329=) c.1496A= (p.Glu499=) c.1157A= (p.Glu386=) c.1505A= (p.Glu502=) c.1469A= (p.Glu490=) c.646A= c.197A= (p.Glu66=) c.1586A= (p.Glu529=) c.1559A= (p.Glu520=) c.1463A= (p.Glu488=) c.1070A= (p.Glu357=) c.1532A= (p.Glu511=) c.1466A= (p.Glu489=) c.497A= (p.Glu166=) | |
20 | g.63414131C>A | CA409645372 | KCNQ2 | c.1534G>T (p.Glu512Ter) c.1588G>T (p.Glu530Ter) c.985G>T (p.Glu329Ter) c.1495G>T (p.Glu499Ter) c.1156G>T (p.Glu386Ter) c.1504G>T (p.Glu502Ter) c.1468G>T (p.Glu490Ter) c.645G>T c.196G>T (p.Glu66Ter) c.1585G>T (p.Glu529Ter) c.1558G>T (p.Glu520Ter) c.1462G>T (p.Glu488Ter) c.1069G>T (p.Glu357Ter) c.1531G>T (p.Glu511Ter) c.1465G>T (p.Glu489Ter) c.496G>T (p.Glu166Ter) | |
20 | g.63414131C= | CA2374778305 | KCNQ2 | c.1534G= (p.Glu512=) c.1588G= (p.Glu530=) c.985G= (p.Glu329=) c.1495G= (p.Glu499=) c.1156G= (p.Glu386=) c.1504G= (p.Glu502=) c.1468G= (p.Glu490=) c.645G= c.196G= (p.Glu66=) c.1585G= (p.Glu529=) c.1558G= (p.Glu520=) c.1462G= (p.Glu488=) c.1069G= (p.Glu357=) c.1531G= (p.Glu511=) c.1465G= (p.Glu489=) c.496G= (p.Glu166=) | |
20 | g.63414131C>G | CA409645375 | KCNQ2 | c.1534G>C (p.Glu512Gln) c.1588G>C (p.Glu530Gln) c.985G>C (p.Glu329Gln) c.1495G>C (p.Glu499Gln) c.1156G>C (p.Glu386Gln) c.1504G>C (p.Glu502Gln) c.1468G>C (p.Glu490Gln) c.645G>C c.196G>C (p.Glu66Gln) c.1585G>C (p.Glu529Gln) c.1558G>C (p.Glu520Gln) c.1462G>C (p.Glu488Gln) c.1069G>C (p.Glu357Gln) c.1531G>C (p.Glu511Gln) c.1465G>C (p.Glu489Gln) c.496G>C (p.Glu166Gln) | |
20 | g.63414131C>T | CA317429754 | KCNQ2 | c.1534G>A (p.Glu512Lys) c.1588G>A (p.Glu530Lys) c.985G>A (p.Glu329Lys) c.1495G>A (p.Glu499Lys) c.1156G>A (p.Glu386Lys) c.1504G>A (p.Glu502Lys) c.1468G>A (p.Glu490Lys) c.645G>A c.196G>A (p.Glu66Lys) c.1585G>A (p.Glu529Lys) c.1558G>A (p.Glu520Lys) c.1462G>A (p.Glu488Lys) c.1069G>A (p.Glu357Lys) c.1531G>A (p.Glu511Lys) c.1465G>A (p.Glu489Lys) c.496G>A (p.Glu166Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63414132G>A | CA9958400 | KCNQ2 | c.1533C>T (p.Thr511=) c.1587C>T (p.Thr529=) c.984C>T (p.Thr328=) c.1494C>T (p.Thr498=) c.1155C>T (p.Thr385=) c.1503C>T (p.Thr501=) c.1467C>T (p.Thr489=) c.644C>T c.195C>T (p.Thr65=) c.1584C>T (p.Thr528=) c.1557C>T (p.Thr519=) c.1461C>T (p.Thr487=) c.1068C>T (p.Thr356=) c.1530C>T (p.Thr510=) c.1464C>T (p.Thr488=) c.495C>T (p.Thr165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414132G>C | CA511203895 | KCNQ2 | c.1533C>G (p.Thr511=) c.1587C>G (p.Thr529=) c.984C>G (p.Thr328=) c.1494C>G (p.Thr498=) c.1155C>G (p.Thr385=) c.1503C>G (p.Thr501=) c.1467C>G (p.Thr489=) c.644C>G c.195C>G (p.Thr65=) c.1584C>G (p.Thr528=) c.1557C>G (p.Thr519=) c.1461C>G (p.Thr487=) c.1068C>G (p.Thr356=) c.1530C>G (p.Thr510=) c.1464C>G (p.Thr488=) c.495C>G (p.Thr165=) | gnomAD v4 |
20 | g.63414132G= | CA2374778306 | KCNQ2 | c.1533C= (p.Thr511=) c.1587C= (p.Thr529=) c.984C= (p.Thr328=) c.1494C= (p.Thr498=) c.1155C= (p.Thr385=) c.1503C= (p.Thr501=) c.1467C= (p.Thr489=) c.644C= c.195C= (p.Thr65=) c.1584C= (p.Thr528=) c.1557C= (p.Thr519=) c.1461C= (p.Thr487=) c.1068C= (p.Thr356=) c.1530C= (p.Thr510=) c.1464C= (p.Thr488=) c.495C= (p.Thr165=) | |
20 | g.63414132G>T | CA511203896 | KCNQ2 | c.1533C>A (p.Thr511=) c.1587C>A (p.Thr529=) c.984C>A (p.Thr328=) c.1494C>A (p.Thr498=) c.1155C>A (p.Thr385=) c.1503C>A (p.Thr501=) c.1467C>A (p.Thr489=) c.644C>A c.195C>A (p.Thr65=) c.1584C>A (p.Thr528=) c.1557C>A (p.Thr519=) c.1461C>A (p.Thr487=) c.1068C>A (p.Thr356=) c.1530C>A (p.Thr510=) c.1464C>A (p.Thr488=) c.495C>A (p.Thr165=) | |
20 | g.63414133G>A | CA409645378 | KCNQ2 | c.1532C>T (p.Thr511Ile) c.1586C>T (p.Thr529Ile) c.983C>T (p.Thr328Ile) c.1493C>T (p.Thr498Ile) c.1154C>T (p.Thr385Ile) c.1502C>T (p.Thr501Ile) c.1466C>T (p.Thr489Ile) c.643C>T c.194C>T (p.Thr65Ile) c.1583C>T (p.Thr528Ile) c.1556C>T (p.Thr519Ile) c.1460C>T (p.Thr487Ile) c.1067C>T (p.Thr356Ile) c.1529C>T (p.Thr510Ile) c.1463C>T (p.Thr488Ile) c.494C>T (p.Thr165Ile) | |
20 | g.63414133G>C | CA409645381 | KCNQ2 | c.1532C>G (p.Thr511Ser) c.1586C>G (p.Thr529Ser) c.983C>G (p.Thr328Ser) c.1493C>G (p.Thr498Ser) c.1154C>G (p.Thr385Ser) c.1502C>G (p.Thr501Ser) c.1466C>G (p.Thr489Ser) c.643C>G c.194C>G (p.Thr65Ser) c.1583C>G (p.Thr528Ser) c.1556C>G (p.Thr519Ser) c.1460C>G (p.Thr487Ser) c.1067C>G (p.Thr356Ser) c.1529C>G (p.Thr510Ser) c.1463C>G (p.Thr488Ser) c.494C>G (p.Thr165Ser) | gnomAD v4 |
20 | g.63414133G>T | CA409645386 | KCNQ2 | c.1532C>A (p.Thr511Asn) c.1586C>A (p.Thr529Asn) c.983C>A (p.Thr328Asn) c.1493C>A (p.Thr498Asn) c.1154C>A (p.Thr385Asn) c.1502C>A (p.Thr501Asn) c.1466C>A (p.Thr489Asn) c.643C>A c.194C>A (p.Thr65Asn) c.1583C>A (p.Thr528Asn) c.1556C>A (p.Thr519Asn) c.1460C>A (p.Thr487Asn) c.1067C>A (p.Thr356Asn) c.1529C>A (p.Thr510Asn) c.1463C>A (p.Thr488Asn) c.494C>A (p.Thr165Asn) | |
20 | g.63414134T>A | CA409645390 | KCNQ2 | c.1531A>T (p.Thr511Ser) c.1585A>T (p.Thr529Ser) c.982A>T (p.Thr328Ser) c.1492A>T (p.Thr498Ser) c.1153A>T (p.Thr385Ser) c.1501A>T (p.Thr501Ser) c.1465A>T (p.Thr489Ser) c.642A>T c.193A>T (p.Thr65Ser) c.1582A>T (p.Thr528Ser) c.1555A>T (p.Thr519Ser) c.1459A>T (p.Thr487Ser) c.1066A>T (p.Thr356Ser) c.1528A>T (p.Thr510Ser) c.1462A>T (p.Thr488Ser) c.493A>T (p.Thr165Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63414134T>C | CA409645395 | KCNQ2 | c.1531A>G (p.Thr511Ala) c.1585A>G (p.Thr529Ala) c.982A>G (p.Thr328Ala) c.1492A>G (p.Thr498Ala) c.1153A>G (p.Thr385Ala) c.1501A>G (p.Thr501Ala) c.1465A>G (p.Thr489Ala) c.642A>G c.193A>G (p.Thr65Ala) c.1582A>G (p.Thr528Ala) c.1555A>G (p.Thr519Ala) c.1459A>G (p.Thr487Ala) c.1066A>G (p.Thr356Ala) c.1528A>G (p.Thr510Ala) c.1462A>G (p.Thr488Ala) c.493A>G (p.Thr165Ala) | |
20 | g.63414134T>G | CA409645388 | KCNQ2 | c.1531A>C (p.Thr511Pro) c.1585A>C (p.Thr529Pro) c.982A>C (p.Thr328Pro) c.1492A>C (p.Thr498Pro) c.1153A>C (p.Thr385Pro) c.1501A>C (p.Thr501Pro) c.1465A>C (p.Thr489Pro) c.642A>C c.193A>C (p.Thr65Pro) c.1582A>C (p.Thr528Pro) c.1555A>C (p.Thr519Pro) c.1459A>C (p.Thr487Pro) c.1066A>C (p.Thr356Pro) c.1528A>C (p.Thr510Pro) c.1462A>C (p.Thr488Pro) c.493A>C (p.Thr165Pro) | |
20 | g.63414134T= | CA2374778307 | KCNQ2 | c.1531A= (p.Thr511=) c.1585A= (p.Thr529=) c.982A= (p.Thr328=) c.1492A= (p.Thr498=) c.1153A= (p.Thr385=) c.1501A= (p.Thr501=) c.1465A= (p.Thr489=) c.642A= c.193A= (p.Thr65=) c.1582A= (p.Thr528=) c.1555A= (p.Thr519=) c.1459A= (p.Thr487=) c.1066A= (p.Thr356=) c.1528A= (p.Thr510=) c.1462A= (p.Thr488=) c.493A= (p.Thr165=) | |
20 | g.63414134_63414136delinsTCA | CA2374778308 | KCNQ2 | c.1529_1531delinsTGA (p.Val510=) c.1583_1585delinsTGA (p.Val528=) c.980_982delinsTGA (p.Val327=) c.1490_1492delinsTGA (p.Val497=) c.1151_1153delinsTGA (p.Val384=) c.1499_1501delinsTGA (p.Val500=) c.1463_1465delinsTGA (p.Val488=) c.640_642delinsTGA c.191_193delinsTGA (p.Val64=) c.1580_1582delinsTGA (p.Val527=) c.1553_1555delinsTGA (p.Val518=) c.1457_1459delinsTGA (p.Val486=) c.1064_1066delinsTGA (p.Val355=) c.1526_1528delinsTGA (p.Val509=) c.1460_1462delinsTGA (p.Val487=) c.491_493delinsTGA (p.Val164=) | |
20 | g.63414135C>A | CA511203897 | KCNQ2 | c.1530G>T (p.Val510=) c.1584G>T (p.Val528=) c.981G>T (p.Val327=) c.1491G>T (p.Val497=) c.1152G>T (p.Val384=) c.1500G>T (p.Val500=) c.1464G>T (p.Val488=) c.641G>T c.192G>T (p.Val64=) c.1581G>T (p.Val527=) c.1554G>T (p.Val518=) c.1458G>T (p.Val486=) c.1065G>T (p.Val355=) c.1527G>T (p.Val509=) c.1461G>T (p.Val487=) c.492G>T (p.Val164=) | |
20 | g.63414135C>G | CA511203898 | KCNQ2 | c.1530G>C (p.Val510=) c.1584G>C (p.Val528=) c.981G>C (p.Val327=) c.1491G>C (p.Val497=) c.1152G>C (p.Val384=) c.1500G>C (p.Val500=) c.1464G>C (p.Val488=) c.641G>C c.192G>C (p.Val64=) c.1581G>C (p.Val527=) c.1554G>C (p.Val518=) c.1458G>C (p.Val486=) c.1065G>C (p.Val355=) c.1527G>C (p.Val509=) c.1461G>C (p.Val487=) c.492G>C (p.Val164=) | |
20 | g.63414135C>T | CA511203899 | KCNQ2 | c.1530G>A (p.Val510=) c.1584G>A (p.Val528=) c.981G>A (p.Val327=) c.1491G>A (p.Val497=) c.1152G>A (p.Val384=) c.1500G>A (p.Val500=) c.1464G>A (p.Val488=) c.641G>A c.192G>A (p.Val64=) c.1581G>A (p.Val527=) c.1554G>A (p.Val518=) c.1458G>A (p.Val486=) c.1065G>A (p.Val355=) c.1527G>A (p.Val509=) c.1461G>A (p.Val487=) c.492G>A (p.Val164=) | |
20 | g.63414137_63414138del | CA1139666777 | KCNQ2 | c.1529_1530del (p.Val510AspfsTer?) c.1583_1584del (p.Val528AspfsTer?) c.980_981del (p.Val327AspfsTer?) c.1490_1491del (p.Val497AspfsTer?) c.1151_1152del (p.Val384AspfsTer?) c.1499_1500del (p.Val500AspfsTer?) c.1463_1464del (p.Val488AspfsTer?) c.640_641del c.191_192del (p.Val64AspfsTer?) c.1580_1581del (p.Val527AspfsTer?) c.1553_1554del (p.Val518AspfsTer?) c.1457_1458del (p.Val486AspfsTer?) c.1064_1065del (p.Val355AspfsTer?) c.1526_1527del (p.Val509AspfsTer?) c.1460_1461del (p.Val487AspfsTer?) c.491_492del (p.Val164AspfsTer?) | ClinVar dbSNP |
20 | g.63414136A>C | CA409645406 | KCNQ2 | c.1529T>G (p.Val510Gly) c.1583T>G (p.Val528Gly) c.980T>G (p.Val327Gly) c.1490T>G (p.Val497Gly) c.1151T>G (p.Val384Gly) c.1499T>G (p.Val500Gly) c.1463T>G (p.Val488Gly) c.640T>G c.191T>G (p.Val64Gly) c.1580T>G (p.Val527Gly) c.1553T>G (p.Val518Gly) c.1457T>G (p.Val486Gly) c.1064T>G (p.Val355Gly) c.1526T>G (p.Val509Gly) c.1460T>G (p.Val487Gly) c.491T>G (p.Val164Gly) | |
20 | g.63414136A>G | CA409645414 | KCNQ2 | c.1529T>C (p.Val510Ala) c.1583T>C (p.Val528Ala) c.980T>C (p.Val327Ala) c.1490T>C (p.Val497Ala) c.1151T>C (p.Val384Ala) c.1499T>C (p.Val500Ala) c.1463T>C (p.Val488Ala) c.640T>C c.191T>C (p.Val64Ala) c.1580T>C (p.Val527Ala) c.1553T>C (p.Val518Ala) c.1457T>C (p.Val486Ala) c.1064T>C (p.Val355Ala) c.1526T>C (p.Val509Ala) c.1460T>C (p.Val487Ala) c.491T>C (p.Val164Ala) | |
20 | g.63414136A>T | CA409645411 | KCNQ2 | c.1529T>A (p.Val510Glu) c.1583T>A (p.Val528Glu) c.980T>A (p.Val327Glu) c.1490T>A (p.Val497Glu) c.1151T>A (p.Val384Glu) c.1499T>A (p.Val500Glu) c.1463T>A (p.Val488Glu) c.640T>A c.191T>A (p.Val64Glu) c.1580T>A (p.Val527Glu) c.1553T>A (p.Val518Glu) c.1457T>A (p.Val486Glu) c.1064T>A (p.Val355Glu) c.1526T>A (p.Val509Glu) c.1460T>A (p.Val487Glu) c.491T>A (p.Val164Glu) | |
20 | g.63414136_63414150delinsACAAACTCGCAGGGG | CA2374778309 | KCNQ2 | c.1515_1529delinsCCCCTGCGAGTTTGT (p.Cys505=) c.1569_1583delinsCCCCTGCGAGTTTGT (p.Cys523=) c.966_980delinsCCCCTGCGAGTTTGT (p.Cys322=) c.1476_1490delinsCCCCTGCGAGTTTGT (p.Cys492=) c.1137_1151delinsCCCCTGCGAGTTTGT (p.Cys379=) c.1485_1499delinsCCCCTGCGAGTTTGT (p.Cys495=) c.1449_1463delinsCCCCTGCGAGTTTGT (p.Cys483=) c.626_640delinsCCCCTGCGAGTTTGT c.177_191delinsCCCCTGCGAGTTTGT (p.Cys59=) c.1566_1580delinsCCCCTGCGAGTTTGT (p.Cys522=) c.1539_1553delinsCCCCTGCGAGTTTGT (p.Cys513=) c.1443_1457delinsCCCCTGCGAGTTTGT (p.Cys481=) c.1050_1064delinsCCCCTGCGAGTTTGT (p.Cys350=) c.1512_1526delinsCCCCTGCGAGTTTGT (p.Cys504=) c.1446_1460delinsCCCCTGCGAGTTTGT (p.Cys482=) c.477_491delinsCCCCTGCGAGTTTGT (p.Cys159=) | |
20 | g.63414137C>A | CA409645416 | KCNQ2 | c.1528G>T (p.Val510Leu) c.1582G>T (p.Val528Leu) c.979G>T (p.Val327Leu) c.1489G>T (p.Val497Leu) c.1150G>T (p.Val384Leu) c.1498G>T (p.Val500Leu) c.1462G>T (p.Val488Leu) c.639G>T c.190G>T (p.Val64Leu) c.1579G>T (p.Val527Leu) c.1552G>T (p.Val518Leu) c.1456G>T (p.Val486Leu) c.1063G>T (p.Val355Leu) c.1525G>T (p.Val509Leu) c.1459G>T (p.Val487Leu) c.490G>T (p.Val164Leu) | |
20 | g.63414137C>G | CA409645430 | KCNQ2 | c.1528G>C (p.Val510Leu) c.1582G>C (p.Val528Leu) c.979G>C (p.Val327Leu) c.1489G>C (p.Val497Leu) c.1150G>C (p.Val384Leu) c.1498G>C (p.Val500Leu) c.1462G>C (p.Val488Leu) c.639G>C c.190G>C (p.Val64Leu) c.1579G>C (p.Val527Leu) c.1552G>C (p.Val518Leu) c.1456G>C (p.Val486Leu) c.1063G>C (p.Val355Leu) c.1525G>C (p.Val509Leu) c.1459G>C (p.Val487Leu) c.490G>C (p.Val164Leu) | |
20 | g.63414137C>T | CA409645442 | KCNQ2 | c.1528G>A (p.Val510Met) c.1582G>A (p.Val528Met) c.979G>A (p.Val327Met) c.1489G>A (p.Val497Met) c.1150G>A (p.Val384Met) c.1498G>A (p.Val500Met) c.1462G>A (p.Val488Met) c.639G>A c.190G>A (p.Val64Met) c.1579G>A (p.Val527Met) c.1552G>A (p.Val518Met) c.1456G>A (p.Val486Met) c.1063G>A (p.Val355Met) c.1525G>A (p.Val509Met) c.1459G>A (p.Val487Met) c.490G>A (p.Val164Met) | |
20 | g.63414137_63414150delinsCAAACTCGCAGGGG | CA2374778310 | KCNQ2 | c.1515_1528delinsCCCCTGCGAGTTTG (p.Cys505=) c.1569_1582delinsCCCCTGCGAGTTTG (p.Cys523=) c.966_979delinsCCCCTGCGAGTTTG (p.Cys322=) c.1476_1489delinsCCCCTGCGAGTTTG (p.Cys492=) c.1137_1150delinsCCCCTGCGAGTTTG (p.Cys379=) c.1485_1498delinsCCCCTGCGAGTTTG (p.Cys495=) c.1449_1462delinsCCCCTGCGAGTTTG (p.Cys483=) c.626_639delinsCCCCTGCGAGTTTG c.177_190delinsCCCCTGCGAGTTTG (p.Cys59=) c.1566_1579delinsCCCCTGCGAGTTTG (p.Cys522=) c.1539_1552delinsCCCCTGCGAGTTTG (p.Cys513=) c.1443_1456delinsCCCCTGCGAGTTTG (p.Cys481=) c.1050_1063delinsCCCCTGCGAGTTTG (p.Cys350=) c.1512_1525delinsCCCCTGCGAGTTTG (p.Cys504=) c.1446_1459delinsCCCCTGCGAGTTTG (p.Cys482=) c.477_490delinsCCCCTGCGAGTTTG (p.Cys159=) | |
20 | g.63414139_63414152del | CA342471 | KCNQ2 | c.1515_1528del (p.Pro506AspfsTer?) c.1569_1582del (p.Pro524AspfsTer?) c.966_979del (p.Pro323AspfsTer?) c.1476_1489del (p.Pro493AspfsTer?) c.1137_1150del (p.Pro380AspfsTer?) c.1485_1498del (p.Pro496AspfsTer?) c.1449_1462del (p.Pro484AspfsTer?) c.626_639del c.177_190del (p.Pro60AspfsTer?) c.1566_1579del (p.Pro523AspfsTer?) c.1539_1552del (p.Pro514AspfsTer?) c.1443_1456del (p.Pro482AspfsTer?) c.1050_1063del (p.Pro351AspfsTer?) c.1512_1525del (p.Pro505AspfsTer?) c.1446_1459del (p.Pro483AspfsTer?) c.477_490del (p.Pro160AspfsTer?) | dbSNP |
20 | g.63414138A>C | CA409645444 | KCNQ2 | c.1527T>G (p.Phe509Leu) c.1581T>G (p.Phe527Leu) c.978T>G (p.Phe326Leu) c.1488T>G (p.Phe496Leu) c.1149T>G (p.Phe383Leu) c.1497T>G (p.Phe499Leu) c.1461T>G (p.Phe487Leu) c.638T>G c.189T>G (p.Phe63Leu) c.1578T>G (p.Phe526Leu) c.1551T>G (p.Phe517Leu) c.1455T>G (p.Phe485Leu) c.1062T>G (p.Phe354Leu) c.1524T>G (p.Phe508Leu) c.1458T>G (p.Phe486Leu) c.489T>G (p.Phe163Leu) | |
20 | g.63414138A>G | CA511203903 | KCNQ2 | c.1527T>C (p.Phe509=) c.1581T>C (p.Phe527=) c.978T>C (p.Phe326=) c.1488T>C (p.Phe496=) c.1149T>C (p.Phe383=) c.1497T>C (p.Phe499=) c.1461T>C (p.Phe487=) c.638T>C c.189T>C (p.Phe63=) c.1578T>C (p.Phe526=) c.1551T>C (p.Phe517=) c.1455T>C (p.Phe485=) c.1062T>C (p.Phe354=) c.1524T>C (p.Phe508=) c.1458T>C (p.Phe486=) c.489T>C (p.Phe163=) | |
20 | g.63414138A>T | CA409645445 | KCNQ2 | c.1527T>A (p.Phe509Leu) c.1581T>A (p.Phe527Leu) c.978T>A (p.Phe326Leu) c.1488T>A (p.Phe496Leu) c.1149T>A (p.Phe383Leu) c.1497T>A (p.Phe499Leu) c.1461T>A (p.Phe487Leu) c.638T>A c.189T>A (p.Phe63Leu) c.1578T>A (p.Phe526Leu) c.1551T>A (p.Phe517Leu) c.1455T>A (p.Phe485Leu) c.1062T>A (p.Phe354Leu) c.1524T>A (p.Phe508Leu) c.1458T>A (p.Phe486Leu) c.489T>A (p.Phe163Leu) | |
20 | g.63414138_63414150del | CA16043900 | KCNQ2 | c.1515_1527del (p.Cys505TrpfsTer2) c.1569_1581del (p.Cys523TrpfsTer2) c.966_978del (p.Cys322TrpfsTer2) c.1476_1488del (p.Cys492TrpfsTer2) c.1137_1149del (p.Cys379TrpfsTer2) c.1485_1497del (p.Cys495TrpfsTer2) c.1449_1461del (p.Cys483TrpfsTer2) c.626_638del c.177_189del (p.Cys59TrpfsTer2) c.1566_1578del (p.Cys522TrpfsTer2) c.1539_1551del (p.Cys513TrpfsTer2) c.1443_1455del (p.Cys481TrpfsTer2) c.1050_1062del (p.Cys350TrpfsTer2) c.1512_1524del (p.Cys504TrpfsTer2) c.1446_1458del (p.Cys482TrpfsTer2) c.477_489del (p.Cys159TrpfsTer2) | ClinVar dbSNP |
20 | g.63414139A>C | CA409645447 | KCNQ2 | c.1526T>G (p.Phe509Cys) c.1580T>G (p.Phe527Cys) c.977T>G (p.Phe326Cys) c.1487T>G (p.Phe496Cys) c.1148T>G (p.Phe383Cys) c.1496T>G (p.Phe499Cys) c.1460T>G (p.Phe487Cys) c.637T>G c.188T>G (p.Phe63Cys) c.1577T>G (p.Phe526Cys) c.1550T>G (p.Phe517Cys) c.1454T>G (p.Phe485Cys) c.1061T>G (p.Phe354Cys) c.1523T>G (p.Phe508Cys) c.1457T>G (p.Phe486Cys) c.488T>G (p.Phe163Cys) | |
20 | g.63414139A>G | CA409645449 | KCNQ2 | c.1526T>C (p.Phe509Ser) c.1580T>C (p.Phe527Ser) c.977T>C (p.Phe326Ser) c.1487T>C (p.Phe496Ser) c.1148T>C (p.Phe383Ser) c.1496T>C (p.Phe499Ser) c.1460T>C (p.Phe487Ser) c.637T>C c.188T>C (p.Phe63Ser) c.1577T>C (p.Phe526Ser) c.1550T>C (p.Phe517Ser) c.1454T>C (p.Phe485Ser) c.1061T>C (p.Phe354Ser) c.1523T>C (p.Phe508Ser) c.1457T>C (p.Phe486Ser) c.488T>C (p.Phe163Ser) | gnomAD v4 |
20 | g.63414139A>T | CA409645453 | KCNQ2 | c.1526T>A (p.Phe509Tyr) c.1580T>A (p.Phe527Tyr) c.977T>A (p.Phe326Tyr) c.1487T>A (p.Phe496Tyr) c.1148T>A (p.Phe383Tyr) c.1496T>A (p.Phe499Tyr) c.1460T>A (p.Phe487Tyr) c.637T>A c.188T>A (p.Phe63Tyr) c.1577T>A (p.Phe526Tyr) c.1550T>A (p.Phe517Tyr) c.1454T>A (p.Phe485Tyr) c.1061T>A (p.Phe354Tyr) c.1523T>A (p.Phe508Tyr) c.1457T>A (p.Phe486Tyr) c.488T>A (p.Phe163Tyr) | |
20 | g.63414140_63414152del | CA2695230078 | KCNQ2 | c.1514_1526del (p.Cys505LeufsTer2) c.1568_1580del (p.Cys523LeufsTer2) c.965_977del (p.Cys322LeufsTer2) c.1475_1487del (p.Cys492LeufsTer2) c.1136_1148del (p.Cys379LeufsTer2) c.1484_1496del (p.Cys495LeufsTer2) c.1448_1460del (p.Cys483LeufsTer2) c.625_637del c.176_188del (p.Cys59LeufsTer2) c.1565_1577del (p.Cys522LeufsTer2) c.1538_1550del (p.Cys513LeufsTer2) c.1442_1454del (p.Cys481LeufsTer2) c.1049_1061del (p.Cys350LeufsTer2) c.1511_1523del (p.Cys504LeufsTer2) c.1445_1457del (p.Cys482LeufsTer2) c.476_488del (p.Cys159LeufsTer2) | |
20 | g.63414140A= | CA2374778311 | KCNQ2 | c.1525T= (p.Phe509=) c.1579T= (p.Phe527=) c.976T= (p.Phe326=) c.1486T= (p.Phe496=) c.1147T= (p.Phe383=) c.1495T= (p.Phe499=) c.1459T= (p.Phe487=) c.636T= c.187T= (p.Phe63=) c.1576T= (p.Phe526=) c.1549T= (p.Phe517=) c.1453T= (p.Phe485=) c.1060T= (p.Phe354=) c.1522T= (p.Phe508=) c.1456T= (p.Phe486=) c.487T= (p.Phe163=) | |
20 | g.63414140A>C | CA409645458 | KCNQ2 | c.1525T>G (p.Phe509Val) c.1579T>G (p.Phe527Val) c.976T>G (p.Phe326Val) c.1486T>G (p.Phe496Val) c.1147T>G (p.Phe383Val) c.1495T>G (p.Phe499Val) c.1459T>G (p.Phe487Val) c.636T>G c.187T>G (p.Phe63Val) c.1576T>G (p.Phe526Val) c.1549T>G (p.Phe517Val) c.1453T>G (p.Phe485Val) c.1060T>G (p.Phe354Val) c.1522T>G (p.Phe508Val) c.1456T>G (p.Phe486Val) c.487T>G (p.Phe163Val) | |
20 | g.63414140A>G | CA409645464 | KCNQ2 | c.1525T>C (p.Phe509Leu) c.1579T>C (p.Phe527Leu) c.976T>C (p.Phe326Leu) c.1486T>C (p.Phe496Leu) c.1147T>C (p.Phe383Leu) c.1495T>C (p.Phe499Leu) c.1459T>C (p.Phe487Leu) c.636T>C c.187T>C (p.Phe63Leu) c.1576T>C (p.Phe526Leu) c.1549T>C (p.Phe517Leu) c.1453T>C (p.Phe485Leu) c.1060T>C (p.Phe354Leu) c.1522T>C (p.Phe508Leu) c.1456T>C (p.Phe486Leu) c.487T>C (p.Phe163Leu) | COSMIC COSMIC COSMIC |
20 | g.63414140A>T | CA9958401 | KCNQ2 | c.1525T>A (p.Phe509Ile) c.1579T>A (p.Phe527Ile) c.976T>A (p.Phe326Ile) c.1486T>A (p.Phe496Ile) c.1147T>A (p.Phe383Ile) c.1495T>A (p.Phe499Ile) c.1459T>A (p.Phe487Ile) c.636T>A c.187T>A (p.Phe63Ile) c.1576T>A (p.Phe526Ile) c.1549T>A (p.Phe517Ile) c.1453T>A (p.Phe485Ile) c.1060T>A (p.Phe354Ile) c.1522T>A (p.Phe508Ile) c.1456T>A (p.Phe486Ile) c.487T>A (p.Phe163Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63414141C>A | CA409645470 | KCNQ2 | c.1524G>T (p.Glu508Asp) c.1578G>T (p.Glu526Asp) c.975G>T (p.Glu325Asp) c.1485G>T (p.Glu495Asp) c.1146G>T (p.Glu382Asp) c.1494G>T (p.Glu498Asp) c.1458G>T (p.Glu486Asp) c.635G>T c.186G>T (p.Glu62Asp) c.1575G>T (p.Glu525Asp) c.1548G>T (p.Glu516Asp) c.1452G>T (p.Glu484Asp) c.1059G>T (p.Glu353Asp) c.1521G>T (p.Glu507Asp) c.1455G>T (p.Glu485Asp) c.486G>T (p.Glu162Asp) | |
20 | g.63414141C= | CA2374778312 | KCNQ2 | c.1524G= (p.Glu508=) c.1578G= (p.Glu526=) c.975G= (p.Glu325=) c.1485G= (p.Glu495=) c.1146G= (p.Glu382=) c.1494G= (p.Glu498=) c.1458G= (p.Glu486=) c.635G= c.186G= (p.Glu62=) c.1575G= (p.Glu525=) c.1548G= (p.Glu516=) c.1452G= (p.Glu484=) c.1059G= (p.Glu353=) c.1521G= (p.Glu507=) c.1455G= (p.Glu485=) c.486G= (p.Glu162=) | |
20 | g.63414141C>G | CA409645471 | KCNQ2 | c.1524G>C (p.Glu508Asp) c.1578G>C (p.Glu526Asp) c.975G>C (p.Glu325Asp) c.1485G>C (p.Glu495Asp) c.1146G>C (p.Glu382Asp) c.1494G>C (p.Glu498Asp) c.1458G>C (p.Glu486Asp) c.635G>C c.186G>C (p.Glu62Asp) c.1575G>C (p.Glu525Asp) c.1548G>C (p.Glu516Asp) c.1452G>C (p.Glu484Asp) c.1059G>C (p.Glu353Asp) c.1521G>C (p.Glu507Asp) c.1455G>C (p.Glu485Asp) c.486G>C (p.Glu162Asp) | |
20 | g.63414141C>T | CA511203905 | KCNQ2 | c.1524G>A (p.Glu508=) c.1578G>A (p.Glu526=) c.975G>A (p.Glu325=) c.1485G>A (p.Glu495=) c.1146G>A (p.Glu382=) c.1494G>A (p.Glu498=) c.1458G>A (p.Glu486=) c.635G>A c.186G>A (p.Glu62=) c.1575G>A (p.Glu525=) c.1548G>A (p.Glu516=) c.1452G>A (p.Glu484=) c.1059G>A (p.Glu353=) c.1521G>A (p.Glu507=) c.1455G>A (p.Glu485=) c.486G>A (p.Glu162=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63414142T>A | CA409645472 | KCNQ2 | c.1523A>T (p.Glu508Val) c.1577A>T (p.Glu526Val) c.974A>T (p.Glu325Val) c.1484A>T (p.Glu495Val) c.1145A>T (p.Glu382Val) c.1493A>T (p.Glu498Val) c.1457A>T (p.Glu486Val) c.634A>T c.185A>T (p.Glu62Val) c.1574A>T (p.Glu525Val) c.1547A>T (p.Glu516Val) c.1451A>T (p.Glu484Val) c.1058A>T (p.Glu353Val) c.1520A>T (p.Glu507Val) c.1454A>T (p.Glu485Val) c.485A>T (p.Glu162Val) | |
20 | g.63414142T>C | CA409645475 | KCNQ2 | c.1523A>G (p.Glu508Gly) c.1577A>G (p.Glu526Gly) c.974A>G (p.Glu325Gly) c.1484A>G (p.Glu495Gly) c.1145A>G (p.Glu382Gly) c.1493A>G (p.Glu498Gly) c.1457A>G (p.Glu486Gly) c.634A>G c.185A>G (p.Glu62Gly) c.1574A>G (p.Glu525Gly) c.1547A>G (p.Glu516Gly) c.1451A>G (p.Glu484Gly) c.1058A>G (p.Glu353Gly) c.1520A>G (p.Glu507Gly) c.1454A>G (p.Glu485Gly) c.485A>G (p.Glu162Gly) | |
20 | g.63414142T>G | CA409645473 | KCNQ2 | c.1523A>C (p.Glu508Ala) c.1577A>C (p.Glu526Ala) c.974A>C (p.Glu325Ala) c.1484A>C (p.Glu495Ala) c.1145A>C (p.Glu382Ala) c.1493A>C (p.Glu498Ala) c.1457A>C (p.Glu486Ala) c.634A>C c.185A>C (p.Glu62Ala) c.1574A>C (p.Glu525Ala) c.1547A>C (p.Glu516Ala) c.1451A>C (p.Glu484Ala) c.1058A>C (p.Glu353Ala) c.1520A>C (p.Glu507Ala) c.1454A>C (p.Glu485Ala) c.485A>C (p.Glu162Ala) | |
20 | g.63414143C>A | CA409645479 | KCNQ2 | c.1522G>T (p.Glu508Ter) c.1576G>T (p.Glu526Ter) c.973G>T (p.Glu325Ter) c.1483G>T (p.Glu495Ter) c.1144G>T (p.Glu382Ter) c.1492G>T (p.Glu498Ter) c.1456G>T (p.Glu486Ter) c.633G>T c.184G>T (p.Glu62Ter) c.1573G>T (p.Glu525Ter) c.1546G>T (p.Glu516Ter) c.1450G>T (p.Glu484Ter) c.1057G>T (p.Glu353Ter) c.1519G>T (p.Glu507Ter) c.1453G>T (p.Glu485Ter) c.484G>T (p.Glu162Ter) | |
20 | g.63414143C= | CA2374778313 | KCNQ2 | c.1522G= (p.Glu508=) c.1576G= (p.Glu526=) c.973G= (p.Glu325=) c.1483G= (p.Glu495=) c.1144G= (p.Glu382=) c.1492G= (p.Glu498=) c.1456G= (p.Glu486=) c.633G= c.184G= (p.Glu62=) c.1573G= (p.Glu525=) c.1546G= (p.Glu516=) c.1450G= (p.Glu484=) c.1057G= (p.Glu353=) c.1519G= (p.Glu507=) c.1453G= (p.Glu485=) c.484G= (p.Glu162=) | |
20 | g.63414143C>G | CA409645483 | KCNQ2 | c.1522G>C (p.Glu508Gln) c.1576G>C (p.Glu526Gln) c.973G>C (p.Glu325Gln) c.1483G>C (p.Glu495Gln) c.1144G>C (p.Glu382Gln) c.1492G>C (p.Glu498Gln) c.1456G>C (p.Glu486Gln) c.633G>C c.184G>C (p.Glu62Gln) c.1573G>C (p.Glu525Gln) c.1546G>C (p.Glu516Gln) c.1450G>C (p.Glu484Gln) c.1057G>C (p.Glu353Gln) c.1519G>C (p.Glu507Gln) c.1453G>C (p.Glu485Gln) c.484G>C (p.Glu162Gln) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63414143C>T | CA9958402 | KCNQ2 | c.1522G>A (p.Glu508Lys) c.1576G>A (p.Glu526Lys) c.973G>A (p.Glu325Lys) c.1483G>A (p.Glu495Lys) c.1144G>A (p.Glu382Lys) c.1492G>A (p.Glu498Lys) c.1456G>A (p.Glu486Lys) c.633G>A c.184G>A (p.Glu62Lys) c.1573G>A (p.Glu525Lys) c.1546G>A (p.Glu516Lys) c.1450G>A (p.Glu484Lys) c.1057G>A (p.Glu353Lys) c.1519G>A (p.Glu507Lys) c.1453G>A (p.Glu485Lys) c.484G>A (p.Glu162Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63414144G>A | CA9958403 | KCNQ2 | c.1521C>T (p.Cys507=) c.1575C>T (p.Cys525=) c.972C>T (p.Cys324=) c.1482C>T (p.Cys494=) c.1143C>T (p.Cys381=) c.1491C>T (p.Cys497=) c.1455C>T (p.Cys485=) c.632C>T c.183C>T (p.Cys61=) c.1572C>T (p.Cys524=) c.1545C>T (p.Cys515=) c.1449C>T (p.Cys483=) c.1056C>T (p.Cys352=) c.1518C>T (p.Cys506=) c.1452C>T (p.Cys484=) c.483C>T (p.Cys161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63414144G>C | CA409645487 | KCNQ2 | c.1521C>G (p.Cys507Trp) c.1575C>G (p.Cys525Trp) c.972C>G (p.Cys324Trp) c.1482C>G (p.Cys494Trp) c.1143C>G (p.Cys381Trp) c.1491C>G (p.Cys497Trp) c.1455C>G (p.Cys485Trp) c.632C>G c.183C>G (p.Cys61Trp) c.1572C>G (p.Cys524Trp) c.1545C>G (p.Cys515Trp) c.1449C>G (p.Cys483Trp) c.1056C>G (p.Cys352Trp) c.1518C>G (p.Cys506Trp) c.1452C>G (p.Cys484Trp) c.483C>G (p.Cys161Trp) | gnomAD v4 |
20 | g.63414144G= | CA2374778314 | KCNQ2 | c.1521C= (p.Cys507=) c.1575C= (p.Cys525=) c.972C= (p.Cys324=) c.1482C= (p.Cys494=) c.1143C= (p.Cys381=) c.1491C= (p.Cys497=) c.1455C= (p.Cys485=) c.632C= c.183C= (p.Cys61=) c.1572C= (p.Cys524=) c.1545C= (p.Cys515=) c.1449C= (p.Cys483=) c.1056C= (p.Cys352=) c.1518C= (p.Cys506=) c.1452C= (p.Cys484=) c.483C= (p.Cys161=) | |
20 | g.63414144G>T | CA409645493 | KCNQ2 | c.1521C>A (p.Cys507Ter) c.1575C>A (p.Cys525Ter) c.972C>A (p.Cys324Ter) c.1482C>A (p.Cys494Ter) c.1143C>A (p.Cys381Ter) c.1491C>A (p.Cys497Ter) c.1455C>A (p.Cys485Ter) c.632C>A c.183C>A (p.Cys61Ter) c.1572C>A (p.Cys524Ter) c.1545C>A (p.Cys515Ter) c.1449C>A (p.Cys483Ter) c.1056C>A (p.Cys352Ter) c.1518C>A (p.Cys506Ter) c.1452C>A (p.Cys484Ter) c.483C>A (p.Cys161Ter) | gnomAD v4 |
20 | g.63414145C>A | CA409645495 | KCNQ2 | c.1520G>T (p.Cys507Phe) c.1574G>T (p.Cys525Phe) c.971G>T (p.Cys324Phe) c.1481G>T (p.Cys494Phe) c.1142G>T (p.Cys381Phe) c.1490G>T (p.Cys497Phe) c.1454G>T (p.Cys485Phe) c.631G>T c.182G>T (p.Cys61Phe) c.1571G>T (p.Cys524Phe) c.1544G>T (p.Cys515Phe) c.1448G>T (p.Cys483Phe) c.1055G>T (p.Cys352Phe) c.1517G>T (p.Cys506Phe) c.1451G>T (p.Cys484Phe) c.482G>T (p.Cys161Phe) | |
20 | g.63414145C>G | CA409645496 | KCNQ2 | c.1520G>C (p.Cys507Ser) c.1574G>C (p.Cys525Ser) c.971G>C (p.Cys324Ser) c.1481G>C (p.Cys494Ser) c.1142G>C (p.Cys381Ser) c.1490G>C (p.Cys497Ser) c.1454G>C (p.Cys485Ser) c.631G>C c.182G>C (p.Cys61Ser) c.1571G>C (p.Cys524Ser) c.1544G>C (p.Cys515Ser) c.1448G>C (p.Cys483Ser) c.1055G>C (p.Cys352Ser) c.1517G>C (p.Cys506Ser) c.1451G>C (p.Cys484Ser) c.482G>C (p.Cys161Ser) | |
20 | g.63414145C>T | CA409645500 | KCNQ2 | c.1520G>A (p.Cys507Tyr) c.1574G>A (p.Cys525Tyr) c.971G>A (p.Cys324Tyr) c.1481G>A (p.Cys494Tyr) c.1142G>A (p.Cys381Tyr) c.1490G>A (p.Cys497Tyr) c.1454G>A (p.Cys485Tyr) c.631G>A c.182G>A (p.Cys61Tyr) c.1571G>A (p.Cys524Tyr) c.1544G>A (p.Cys515Tyr) c.1448G>A (p.Cys483Tyr) c.1055G>A (p.Cys352Tyr) c.1517G>A (p.Cys506Tyr) c.1451G>A (p.Cys484Tyr) c.482G>A (p.Cys161Tyr) | |
20 | g.63414146A= | CA2374778315 | KCNQ2 | c.1519T= (p.Cys507=) c.1573T= (p.Cys525=) c.970T= (p.Cys324=) c.1480T= (p.Cys494=) c.1141T= (p.Cys381=) c.1489T= (p.Cys497=) c.1453T= (p.Cys485=) c.630T= c.181T= (p.Cys61=) c.1570T= (p.Cys524=) c.1543T= (p.Cys515=) c.1447T= (p.Cys483=) c.1054T= (p.Cys352=) c.1516T= (p.Cys506=) c.1450T= (p.Cys484=) c.481T= (p.Cys161=) | |
20 | g.63414146A>C | CA409645503 | KCNQ2 | c.1519T>G (p.Cys507Gly) c.1573T>G (p.Cys525Gly) c.970T>G (p.Cys324Gly) c.1480T>G (p.Cys494Gly) c.1141T>G (p.Cys381Gly) c.1489T>G (p.Cys497Gly) c.1453T>G (p.Cys485Gly) c.630T>G c.181T>G (p.Cys61Gly) c.1570T>G (p.Cys524Gly) c.1543T>G (p.Cys515Gly) c.1447T>G (p.Cys483Gly) c.1054T>G (p.Cys352Gly) c.1516T>G (p.Cys506Gly) c.1450T>G (p.Cys484Gly) c.481T>G (p.Cys161Gly) | |
20 | g.63414146A>G | CA409645506 | KCNQ2 | c.1519T>C (p.Cys507Arg) c.1573T>C (p.Cys525Arg) c.970T>C (p.Cys324Arg) c.1480T>C (p.Cys494Arg) c.1141T>C (p.Cys381Arg) c.1489T>C (p.Cys497Arg) c.1453T>C (p.Cys485Arg) c.630T>C c.181T>C (p.Cys61Arg) c.1570T>C (p.Cys524Arg) c.1543T>C (p.Cys515Arg) c.1447T>C (p.Cys483Arg) c.1054T>C (p.Cys352Arg) c.1516T>C (p.Cys506Arg) c.1450T>C (p.Cys484Arg) c.481T>C (p.Cys161Arg) | |
20 | g.63414146A>T | CA315449 | KCNQ2 | c.1519T>A (p.Cys507Ser) c.1573T>A (p.Cys525Ser) c.970T>A (p.Cys324Ser) c.1480T>A (p.Cys494Ser) c.1141T>A (p.Cys381Ser) c.1489T>A (p.Cys497Ser) c.1453T>A (p.Cys485Ser) c.630T>A c.181T>A (p.Cys61Ser) c.1570T>A (p.Cys524Ser) c.1543T>A (p.Cys515Ser) c.1447T>A (p.Cys483Ser) c.1054T>A (p.Cys352Ser) c.1516T>A (p.Cys506Ser) c.1450T>A (p.Cys484Ser) c.481T>A (p.Cys161Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414147G>A | CA9958404 | KCNQ2 | c.1518C>T (p.Pro506=) c.1572C>T (p.Pro524=) c.969C>T (p.Pro323=) c.1479C>T (p.Pro493=) c.1140C>T (p.Pro380=) c.1488C>T (p.Pro496=) c.1452C>T (p.Pro484=) c.629C>T c.180C>T (p.Pro60=) c.1569C>T (p.Pro523=) c.1542C>T (p.Pro514=) c.1446C>T (p.Pro482=) c.1053C>T (p.Pro351=) c.1515C>T (p.Pro505=) c.1449C>T (p.Pro483=) c.480C>T (p.Pro160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414147G>C | CA511203912 | KCNQ2 | c.1518C>G (p.Pro506=) c.1572C>G (p.Pro524=) c.969C>G (p.Pro323=) c.1479C>G (p.Pro493=) c.1140C>G (p.Pro380=) c.1488C>G (p.Pro496=) c.1452C>G (p.Pro484=) c.629C>G c.180C>G (p.Pro60=) c.1569C>G (p.Pro523=) c.1542C>G (p.Pro514=) c.1446C>G (p.Pro482=) c.1053C>G (p.Pro351=) c.1515C>G (p.Pro505=) c.1449C>G (p.Pro483=) c.480C>G (p.Pro160=) | |
20 | g.63414147G= | CA2374778316 | KCNQ2 | c.1518C= (p.Pro506=) c.1572C= (p.Pro524=) c.969C= (p.Pro323=) c.1479C= (p.Pro493=) c.1140C= (p.Pro380=) c.1488C= (p.Pro496=) c.1452C= (p.Pro484=) c.629C= c.180C= (p.Pro60=) c.1569C= (p.Pro523=) c.1542C= (p.Pro514=) c.1446C= (p.Pro482=) c.1053C= (p.Pro351=) c.1515C= (p.Pro505=) c.1449C= (p.Pro483=) c.480C= (p.Pro160=) | |
20 | g.63414147G>T | CA511203913 | KCNQ2 | c.1518C>A (p.Pro506=) c.1572C>A (p.Pro524=) c.969C>A (p.Pro323=) c.1479C>A (p.Pro493=) c.1140C>A (p.Pro380=) c.1488C>A (p.Pro496=) c.1452C>A (p.Pro484=) c.629C>A c.180C>A (p.Pro60=) c.1569C>A (p.Pro523=) c.1542C>A (p.Pro514=) c.1446C>A (p.Pro482=) c.1053C>A (p.Pro351=) c.1515C>A (p.Pro505=) c.1449C>A (p.Pro483=) c.480C>A (p.Pro160=) | |
20 | g.63414148G>A | CA409645510 | KCNQ2 | c.1517C>T (p.Pro506Leu) c.1571C>T (p.Pro524Leu) c.968C>T (p.Pro323Leu) c.1478C>T (p.Pro493Leu) c.1139C>T (p.Pro380Leu) c.1487C>T (p.Pro496Leu) c.1451C>T (p.Pro484Leu) c.628C>T c.179C>T (p.Pro60Leu) c.1568C>T (p.Pro523Leu) c.1541C>T (p.Pro514Leu) c.1445C>T (p.Pro482Leu) c.1052C>T (p.Pro351Leu) c.1514C>T (p.Pro505Leu) c.1448C>T (p.Pro483Leu) c.479C>T (p.Pro160Leu) | gnomAD v4 |
20 | g.63414148G>C | CA409645513 | KCNQ2 | c.1517C>G (p.Pro506Arg) c.1571C>G (p.Pro524Arg) c.968C>G (p.Pro323Arg) c.1478C>G (p.Pro493Arg) c.1139C>G (p.Pro380Arg) c.1487C>G (p.Pro496Arg) c.1451C>G (p.Pro484Arg) c.628C>G c.179C>G (p.Pro60Arg) c.1568C>G (p.Pro523Arg) c.1541C>G (p.Pro514Arg) c.1445C>G (p.Pro482Arg) c.1052C>G (p.Pro351Arg) c.1514C>G (p.Pro505Arg) c.1448C>G (p.Pro483Arg) c.479C>G (p.Pro160Arg) | |
20 | g.63414148G>T | CA409645516 | KCNQ2 | c.1517C>A (p.Pro506His) c.1571C>A (p.Pro524His) c.968C>A (p.Pro323His) c.1478C>A (p.Pro493His) c.1139C>A (p.Pro380His) c.1487C>A (p.Pro496His) c.1451C>A (p.Pro484His) c.628C>A c.179C>A (p.Pro60His) c.1568C>A (p.Pro523His) c.1541C>A (p.Pro514His) c.1445C>A (p.Pro482His) c.1052C>A (p.Pro351His) c.1514C>A (p.Pro505His) c.1448C>A (p.Pro483His) c.479C>A (p.Pro160His) | dbSNP |
20 | g.63414149G>A | CA409645520 | KCNQ2 | c.1516C>T (p.Pro506Ser) c.1570C>T (p.Pro524Ser) c.967C>T (p.Pro323Ser) c.1477C>T (p.Pro493Ser) c.1138C>T (p.Pro380Ser) c.1486C>T (p.Pro496Ser) c.1450C>T (p.Pro484Ser) c.627C>T c.178C>T (p.Pro60Ser) c.1567C>T (p.Pro523Ser) c.1540C>T (p.Pro514Ser) c.1444C>T (p.Pro482Ser) c.1051C>T (p.Pro351Ser) c.1513C>T (p.Pro505Ser) c.1447C>T (p.Pro483Ser) c.478C>T (p.Pro160Ser) | |
20 | g.63414149G>C | CA409645523 | KCNQ2 | c.1516C>G (p.Pro506Ala) c.1570C>G (p.Pro524Ala) c.967C>G (p.Pro323Ala) c.1477C>G (p.Pro493Ala) c.1138C>G (p.Pro380Ala) c.1486C>G (p.Pro496Ala) c.1450C>G (p.Pro484Ala) c.627C>G c.178C>G (p.Pro60Ala) c.1567C>G (p.Pro523Ala) c.1540C>G (p.Pro514Ala) c.1444C>G (p.Pro482Ala) c.1051C>G (p.Pro351Ala) c.1513C>G (p.Pro505Ala) c.1447C>G (p.Pro483Ala) c.478C>G (p.Pro160Ala) | |
20 | g.63414149G>T | CA409645525 | KCNQ2 | c.1516C>A (p.Pro506Thr) c.1570C>A (p.Pro524Thr) c.967C>A (p.Pro323Thr) c.1477C>A (p.Pro493Thr) c.1138C>A (p.Pro380Thr) c.1486C>A (p.Pro496Thr) c.1450C>A (p.Pro484Thr) c.627C>A c.178C>A (p.Pro60Thr) c.1567C>A (p.Pro523Thr) c.1540C>A (p.Pro514Thr) c.1444C>A (p.Pro482Thr) c.1051C>A (p.Pro351Thr) c.1513C>A (p.Pro505Thr) c.1447C>A (p.Pro483Thr) c.478C>A (p.Pro160Thr) | |
20 | g.63414150G>A | CA511203915 | KCNQ2 | c.1515C>T (p.Cys505=) c.1569C>T (p.Cys523=) c.966C>T (p.Cys322=) c.1476C>T (p.Cys492=) c.1137C>T (p.Cys379=) c.1485C>T (p.Cys495=) c.1449C>T (p.Cys483=) c.626C>T c.177C>T (p.Cys59=) c.1566C>T (p.Cys522=) c.1539C>T (p.Cys513=) c.1443C>T (p.Cys481=) c.1050C>T (p.Cys350=) c.1512C>T (p.Cys504=) c.1446C>T (p.Cys482=) c.477C>T (p.Cys159=) | dbSNP |
20 | g.63414150G>C | CA409645528 | KCNQ2 | c.1515C>G (p.Cys505Trp) c.1569C>G (p.Cys523Trp) c.966C>G (p.Cys322Trp) c.1476C>G (p.Cys492Trp) c.1137C>G (p.Cys379Trp) c.1485C>G (p.Cys495Trp) c.1449C>G (p.Cys483Trp) c.626C>G c.177C>G (p.Cys59Trp) c.1566C>G (p.Cys522Trp) c.1539C>G (p.Cys513Trp) c.1443C>G (p.Cys481Trp) c.1050C>G (p.Cys350Trp) c.1512C>G (p.Cys504Trp) c.1446C>G (p.Cys482Trp) c.477C>G (p.Cys159Trp) | gnomAD v4 |
20 | g.63414150G>T | CA409645530 | KCNQ2 | c.1515C>A (p.Cys505Ter) c.1569C>A (p.Cys523Ter) c.966C>A (p.Cys322Ter) c.1476C>A (p.Cys492Ter) c.1137C>A (p.Cys379Ter) c.1485C>A (p.Cys495Ter) c.1449C>A (p.Cys483Ter) c.626C>A c.177C>A (p.Cys59Ter) c.1566C>A (p.Cys522Ter) c.1539C>A (p.Cys513Ter) c.1443C>A (p.Cys481Ter) c.1050C>A (p.Cys350Ter) c.1512C>A (p.Cys504Ter) c.1446C>A (p.Cys482Ter) c.477C>A (p.Cys159Ter) | |
20 | g.63414151C>A | CA409645533 | KCNQ2 | c.1514G>T (p.Cys505Phe) c.1568G>T (p.Cys523Phe) c.965G>T (p.Cys322Phe) c.1475G>T (p.Cys492Phe) c.1136G>T (p.Cys379Phe) c.1484G>T (p.Cys495Phe) c.1448G>T (p.Cys483Phe) c.625G>T c.176G>T (p.Cys59Phe) c.1565G>T (p.Cys522Phe) c.1538G>T (p.Cys513Phe) c.1442G>T (p.Cys481Phe) c.1049G>T (p.Cys350Phe) c.1511G>T (p.Cys504Phe) c.1445G>T (p.Cys482Phe) c.476G>T (p.Cys159Phe) | |
20 | g.63414151C>G | CA409645536 | KCNQ2 | c.1514G>C (p.Cys505Ser) c.1568G>C (p.Cys523Ser) c.965G>C (p.Cys322Ser) c.1475G>C (p.Cys492Ser) c.1136G>C (p.Cys379Ser) c.1484G>C (p.Cys495Ser) c.1448G>C (p.Cys483Ser) c.625G>C c.176G>C (p.Cys59Ser) c.1565G>C (p.Cys522Ser) c.1538G>C (p.Cys513Ser) c.1442G>C (p.Cys481Ser) c.1049G>C (p.Cys350Ser) c.1511G>C (p.Cys504Ser) c.1445G>C (p.Cys482Ser) c.476G>C (p.Cys159Ser) | |
20 | g.63414151C>T | CA409645542 | KCNQ2 | c.1514G>A (p.Cys505Tyr) c.1568G>A (p.Cys523Tyr) c.965G>A (p.Cys322Tyr) c.1475G>A (p.Cys492Tyr) c.1136G>A (p.Cys379Tyr) c.1484G>A (p.Cys495Tyr) c.1448G>A (p.Cys483Tyr) c.625G>A c.176G>A (p.Cys59Tyr) c.1565G>A (p.Cys522Tyr) c.1538G>A (p.Cys513Tyr) c.1442G>A (p.Cys481Tyr) c.1049G>A (p.Cys350Tyr) c.1511G>A (p.Cys504Tyr) c.1445G>A (p.Cys482Tyr) c.476G>A (p.Cys159Tyr) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63414152A>C | CA409645546 | KCNQ2 | c.1513T>G (p.Cys505Gly) c.1567T>G (p.Cys523Gly) c.964T>G (p.Cys322Gly) c.1474T>G (p.Cys492Gly) c.1135T>G (p.Cys379Gly) c.1483T>G (p.Cys495Gly) c.1447T>G (p.Cys483Gly) c.624T>G c.175T>G (p.Cys59Gly) c.1564T>G (p.Cys522Gly) c.1537T>G (p.Cys513Gly) c.1441T>G (p.Cys481Gly) c.1048T>G (p.Cys350Gly) c.1510T>G (p.Cys504Gly) c.1444T>G (p.Cys482Gly) c.475T>G (p.Cys159Gly) | |
20 | g.63414152A>G | CA409645549 | KCNQ2 | c.1513T>C (p.Cys505Arg) c.1567T>C (p.Cys523Arg) c.964T>C (p.Cys322Arg) c.1474T>C (p.Cys492Arg) c.1135T>C (p.Cys379Arg) c.1483T>C (p.Cys495Arg) c.1447T>C (p.Cys483Arg) c.624T>C c.175T>C (p.Cys59Arg) c.1564T>C (p.Cys522Arg) c.1537T>C (p.Cys513Arg) c.1441T>C (p.Cys481Arg) c.1048T>C (p.Cys350Arg) c.1510T>C (p.Cys504Arg) c.1444T>C (p.Cys482Arg) c.475T>C (p.Cys159Arg) | gnomAD v4 |
20 | g.63414152A>T | CA409645544 | KCNQ2 | c.1513T>A (p.Cys505Ser) c.1567T>A (p.Cys523Ser) c.964T>A (p.Cys322Ser) c.1474T>A (p.Cys492Ser) c.1135T>A (p.Cys379Ser) c.1483T>A (p.Cys495Ser) c.1447T>A (p.Cys483Ser) c.624T>A c.175T>A (p.Cys59Ser) c.1564T>A (p.Cys522Ser) c.1537T>A (p.Cys513Ser) c.1441T>A (p.Cys481Ser) c.1048T>A (p.Cys350Ser) c.1510T>A (p.Cys504Ser) c.1444T>A (p.Cys482Ser) c.475T>A (p.Cys159Ser) | |
20 | g.63414153G>A | CA511203919 | KCNQ2 | c.1512C>T (p.Ser504=) c.1566C>T (p.Ser522=) c.963C>T (p.Ser321=) c.1473C>T (p.Ser491=) c.1134C>T (p.Ser378=) c.1482C>T (p.Ser494=) c.1446C>T (p.Ser482=) c.623C>T c.174C>T (p.Ser58=) c.1563C>T (p.Ser521=) c.1536C>T (p.Ser512=) c.1440C>T (p.Ser480=) c.1047C>T (p.Ser349=) c.1509C>T (p.Ser503=) c.1443C>T (p.Ser481=) c.474C>T (p.Ser158=) | gnomAD v4 |
20 | g.63414153G>C | CA409645551 | KCNQ2 | c.1512C>G (p.Ser504Arg) c.1566C>G (p.Ser522Arg) c.963C>G (p.Ser321Arg) c.1473C>G (p.Ser491Arg) c.1134C>G (p.Ser378Arg) c.1482C>G (p.Ser494Arg) c.1446C>G (p.Ser482Arg) c.623C>G c.174C>G (p.Ser58Arg) c.1563C>G (p.Ser521Arg) c.1536C>G (p.Ser512Arg) c.1440C>G (p.Ser480Arg) c.1047C>G (p.Ser349Arg) c.1509C>G (p.Ser503Arg) c.1443C>G (p.Ser481Arg) c.474C>G (p.Ser158Arg) | ClinVar dbSNP gnomAD v4 |
20 | g.63414153G>T | CA409645555 | KCNQ2 | c.1512C>A (p.Ser504Arg) c.1566C>A (p.Ser522Arg) c.963C>A (p.Ser321Arg) c.1473C>A (p.Ser491Arg) c.1134C>A (p.Ser378Arg) c.1482C>A (p.Ser494Arg) c.1446C>A (p.Ser482Arg) c.623C>A c.174C>A (p.Ser58Arg) c.1563C>A (p.Ser521Arg) c.1536C>A (p.Ser512Arg) c.1440C>A (p.Ser480Arg) c.1047C>A (p.Ser349Arg) c.1509C>A (p.Ser503Arg) c.1443C>A (p.Ser481Arg) c.474C>A (p.Ser158Arg) | |
20 | g.63414154C>A | CA409645563 | KCNQ2 | c.1511G>T (p.Ser504Ile) c.1565G>T (p.Ser522Ile) c.962G>T (p.Ser321Ile) c.1472G>T (p.Ser491Ile) c.1133G>T (p.Ser378Ile) c.1481G>T (p.Ser494Ile) c.1445G>T (p.Ser482Ile) c.622G>T c.173G>T (p.Ser58Ile) c.1562G>T (p.Ser521Ile) c.1535G>T (p.Ser512Ile) c.1439G>T (p.Ser480Ile) c.1046G>T (p.Ser349Ile) c.1508G>T (p.Ser503Ile) c.1442G>T (p.Ser481Ile) c.473G>T (p.Ser158Ile) | |
20 | g.63414154C= | CA2374778317 | KCNQ2 | c.1511G= (p.Ser504=) c.1565G= (p.Ser522=) c.962G= (p.Ser321=) c.1472G= (p.Ser491=) c.1133G= (p.Ser378=) c.1481G= (p.Ser494=) c.1445G= (p.Ser482=) c.622G= c.173G= (p.Ser58=) c.1562G= (p.Ser521=) c.1535G= (p.Ser512=) c.1439G= (p.Ser480=) c.1046G= (p.Ser349=) c.1508G= (p.Ser503=) c.1442G= (p.Ser481=) c.473G= (p.Ser158=) | |
20 | g.63414154C>G | CA409645566 | KCNQ2 | c.1511G>C (p.Ser504Thr) c.1565G>C (p.Ser522Thr) c.962G>C (p.Ser321Thr) c.1472G>C (p.Ser491Thr) c.1133G>C (p.Ser378Thr) c.1481G>C (p.Ser494Thr) c.1445G>C (p.Ser482Thr) c.622G>C c.173G>C (p.Ser58Thr) c.1562G>C (p.Ser521Thr) c.1535G>C (p.Ser512Thr) c.1439G>C (p.Ser480Thr) c.1046G>C (p.Ser349Thr) c.1508G>C (p.Ser503Thr) c.1442G>C (p.Ser481Thr) c.473G>C (p.Ser158Thr) | |
20 | g.63414154C>T | CA409645569 | KCNQ2 | c.1511G>A (p.Ser504Asn) c.1565G>A (p.Ser522Asn) c.962G>A (p.Ser321Asn) c.1472G>A (p.Ser491Asn) c.1133G>A (p.Ser378Asn) c.1481G>A (p.Ser494Asn) c.1445G>A (p.Ser482Asn) c.622G>A c.173G>A (p.Ser58Asn) c.1562G>A (p.Ser521Asn) c.1535G>A (p.Ser512Asn) c.1439G>A (p.Ser480Asn) c.1046G>A (p.Ser349Asn) c.1508G>A (p.Ser503Asn) c.1442G>A (p.Ser481Asn) c.473G>A (p.Ser158Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63414155T>A | CA409645579 | KCNQ2 | c.1510A>T (p.Ser504Cys) c.1564A>T (p.Ser522Cys) c.961A>T (p.Ser321Cys) c.1471A>T (p.Ser491Cys) c.1132A>T (p.Ser378Cys) c.1480A>T (p.Ser494Cys) c.1444A>T (p.Ser482Cys) c.621A>T c.172A>T (p.Ser58Cys) c.1561A>T (p.Ser521Cys) c.1534A>T (p.Ser512Cys) c.1438A>T (p.Ser480Cys) c.1045A>T (p.Ser349Cys) c.1507A>T (p.Ser503Cys) c.1441A>T (p.Ser481Cys) c.472A>T (p.Ser158Cys) | |
20 | g.63414155T>C | CA409645573 | KCNQ2 | c.1510A>G (p.Ser504Gly) c.1564A>G (p.Ser522Gly) c.961A>G (p.Ser321Gly) c.1471A>G (p.Ser491Gly) c.1132A>G (p.Ser378Gly) c.1480A>G (p.Ser494Gly) c.1444A>G (p.Ser482Gly) c.621A>G c.172A>G (p.Ser58Gly) c.1561A>G (p.Ser521Gly) c.1534A>G (p.Ser512Gly) c.1438A>G (p.Ser480Gly) c.1045A>G (p.Ser349Gly) c.1507A>G (p.Ser503Gly) c.1441A>G (p.Ser481Gly) c.472A>G (p.Ser158Gly) | |
20 | g.63414155T>G | CA409645576 | KCNQ2 | c.1510A>C (p.Ser504Arg) c.1564A>C (p.Ser522Arg) c.961A>C (p.Ser321Arg) c.1471A>C (p.Ser491Arg) c.1132A>C (p.Ser378Arg) c.1480A>C (p.Ser494Arg) c.1444A>C (p.Ser482Arg) c.621A>C c.172A>C (p.Ser58Arg) c.1561A>C (p.Ser521Arg) c.1534A>C (p.Ser512Arg) c.1438A>C (p.Ser480Arg) c.1045A>C (p.Ser349Arg) c.1507A>C (p.Ser503Arg) c.1441A>C (p.Ser481Arg) c.472A>C (p.Ser158Arg) | |
20 | g.63414156C>A | CA409645583 | KCNQ2 | c.1509G>T (p.Lys503Asn) c.1563G>T (p.Lys521Asn) c.960G>T (p.Lys320Asn) c.1470G>T (p.Lys490Asn) c.1131G>T (p.Lys377Asn) c.1479G>T (p.Lys493Asn) c.1443G>T (p.Lys481Asn) c.620G>T c.171G>T (p.Lys57Asn) c.1560G>T (p.Lys520Asn) c.1533G>T (p.Lys511Asn) c.1437G>T (p.Lys479Asn) c.1044G>T (p.Lys348Asn) c.1506G>T (p.Lys502Asn) c.1440G>T (p.Lys480Asn) c.471G>T (p.Lys157Asn) | |
20 | g.63414156C= | CA2374778318 | KCNQ2 | c.1509G= (p.Lys503=) c.1563G= (p.Lys521=) c.960G= (p.Lys320=) c.1470G= (p.Lys490=) c.1131G= (p.Lys377=) c.1479G= (p.Lys493=) c.1443G= (p.Lys481=) c.620G= c.171G= (p.Lys57=) c.1560G= (p.Lys520=) c.1533G= (p.Lys511=) c.1437G= (p.Lys479=) c.1044G= (p.Lys348=) c.1506G= (p.Lys502=) c.1440G= (p.Lys480=) c.471G= (p.Lys157=) | |
20 | g.63414156C>G | CA409645586 | KCNQ2 | c.1509G>C (p.Lys503Asn) c.1563G>C (p.Lys521Asn) c.960G>C (p.Lys320Asn) c.1470G>C (p.Lys490Asn) c.1131G>C (p.Lys377Asn) c.1479G>C (p.Lys493Asn) c.1443G>C (p.Lys481Asn) c.620G>C c.171G>C (p.Lys57Asn) c.1560G>C (p.Lys520Asn) c.1533G>C (p.Lys511Asn) c.1437G>C (p.Lys479Asn) c.1044G>C (p.Lys348Asn) c.1506G>C (p.Lys502Asn) c.1440G>C (p.Lys480Asn) c.471G>C (p.Lys157Asn) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63414156C>T | CA511203922 | KCNQ2 | c.1509G>A (p.Lys503=) c.1563G>A (p.Lys521=) c.960G>A (p.Lys320=) c.1470G>A (p.Lys490=) c.1131G>A (p.Lys377=) c.1479G>A (p.Lys493=) c.1443G>A (p.Lys481=) c.620G>A c.171G>A (p.Lys57=) c.1560G>A (p.Lys520=) c.1533G>A (p.Lys511=) c.1437G>A (p.Lys479=) c.1044G>A (p.Lys348=) c.1506G>A (p.Lys502=) c.1440G>A (p.Lys480=) c.471G>A (p.Lys157=) | |
20 | g.63414157T>A | CA409645590 | KCNQ2 | c.1508A>T (p.Lys503Met) c.1562A>T (p.Lys521Met) c.959A>T (p.Lys320Met) c.1469A>T (p.Lys490Met) c.1130A>T (p.Lys377Met) c.1478A>T (p.Lys493Met) c.1442A>T (p.Lys481Met) c.619A>T c.170A>T (p.Lys57Met) c.1559A>T (p.Lys520Met) c.1532A>T (p.Lys511Met) c.1436A>T (p.Lys479Met) c.1043A>T (p.Lys348Met) c.1505A>T (p.Lys502Met) c.1439A>T (p.Lys480Met) c.470A>T (p.Lys157Met) | |
20 | g.63414157T>C | CA409645593 | KCNQ2 | c.1508A>G (p.Lys503Arg) c.1562A>G (p.Lys521Arg) c.959A>G (p.Lys320Arg) c.1469A>G (p.Lys490Arg) c.1130A>G (p.Lys377Arg) c.1478A>G (p.Lys493Arg) c.1442A>G (p.Lys481Arg) c.619A>G c.170A>G (p.Lys57Arg) c.1559A>G (p.Lys520Arg) c.1532A>G (p.Lys511Arg) c.1436A>G (p.Lys479Arg) c.1043A>G (p.Lys348Arg) c.1505A>G (p.Lys502Arg) c.1439A>G (p.Lys480Arg) c.470A>G (p.Lys157Arg) | |
20 | g.63414157T>G | CA409645595 | KCNQ2 | c.1508A>C (p.Lys503Thr) c.1562A>C (p.Lys521Thr) c.959A>C (p.Lys320Thr) c.1469A>C (p.Lys490Thr) c.1130A>C (p.Lys377Thr) c.1478A>C (p.Lys493Thr) c.1442A>C (p.Lys481Thr) c.619A>C c.170A>C (p.Lys57Thr) c.1559A>C (p.Lys520Thr) c.1532A>C (p.Lys511Thr) c.1436A>C (p.Lys479Thr) c.1043A>C (p.Lys348Thr) c.1505A>C (p.Lys502Thr) c.1439A>C (p.Lys480Thr) c.470A>C (p.Lys157Thr) | gnomAD v4 |
20 | g.63414158_63414160dup | CA2374778319 | KCNQ2 | c.1506_1508dup (p.Asp502_Lys503insAsn) c.1560_1562dup (p.Asp520_Lys521insAsn) c.957_959dup (p.Asp319_Lys320insAsn) c.1467_1469dup (p.Asp489_Lys490insAsn) c.1128_1130dup (p.Asp376_Lys377insAsn) c.1476_1478dup (p.Asp492_Lys493insAsn) c.1440_1442dup (p.Asp480_Lys481insAsn) c.617_619dup c.168_170dup (p.Asp56_Lys57insAsn) c.1557_1559dup (p.Asp519_Lys520insAsn) c.1530_1532dup (p.Asp510_Lys511insAsn) c.1434_1436dup (p.Asp478_Lys479insAsn) c.1041_1043dup (p.Asp347_Lys348insAsn) c.1503_1505dup (p.Asp501_Lys502insAsn) c.1437_1439dup (p.Asp479_Lys480insAsn) c.468_470dup (p.Asp156_Lys157insAsn) | dbSNP |
20 | g.63414158T>A | CA409645605 | KCNQ2 | c.1507A>T (p.Lys503Ter) c.1561A>T (p.Lys521Ter) c.958A>T (p.Lys320Ter) c.1468A>T (p.Lys490Ter) c.1129A>T (p.Lys377Ter) c.1477A>T (p.Lys493Ter) c.1441A>T (p.Lys481Ter) c.618A>T c.169A>T (p.Lys57Ter) c.1558A>T (p.Lys520Ter) c.1531A>T (p.Lys511Ter) c.1435A>T (p.Lys479Ter) c.1042A>T (p.Lys348Ter) c.1504A>T (p.Lys502Ter) c.1438A>T (p.Lys480Ter) c.469A>T (p.Lys157Ter) | |
20 | g.63414158T>C | CA409645602 | KCNQ2 | c.1507A>G (p.Lys503Glu) c.1561A>G (p.Lys521Glu) c.958A>G (p.Lys320Glu) c.1468A>G (p.Lys490Glu) c.1129A>G (p.Lys377Glu) c.1477A>G (p.Lys493Glu) c.1441A>G (p.Lys481Glu) c.618A>G c.169A>G (p.Lys57Glu) c.1558A>G (p.Lys520Glu) c.1531A>G (p.Lys511Glu) c.1435A>G (p.Lys479Glu) c.1042A>G (p.Lys348Glu) c.1504A>G (p.Lys502Glu) c.1438A>G (p.Lys480Glu) c.469A>G (p.Lys157Glu) | gnomAD v4 |
20 | g.63414158T>G | CA409645599 | KCNQ2 | c.1507A>C (p.Lys503Gln) c.1561A>C (p.Lys521Gln) c.958A>C (p.Lys320Gln) c.1468A>C (p.Lys490Gln) c.1129A>C (p.Lys377Gln) c.1477A>C (p.Lys493Gln) c.1441A>C (p.Lys481Gln) c.618A>C c.169A>C (p.Lys57Gln) c.1558A>C (p.Lys520Gln) c.1531A>C (p.Lys511Gln) c.1435A>C (p.Lys479Gln) c.1042A>C (p.Lys348Gln) c.1504A>C (p.Lys502Gln) c.1438A>C (p.Lys480Gln) c.469A>C (p.Lys157Gln) | |
20 | g.63414158_63414161dup | CA2573157181 | KCNQ2 | c.1504_1507dup (p.Lys503ArgfsTer?) c.1558_1561dup (p.Lys521ArgfsTer?) c.955_958dup (p.Lys320ArgfsTer?) c.1465_1468dup (p.Lys490ArgfsTer?) c.1126_1129dup (p.Lys377ArgfsTer?) c.1474_1477dup (p.Lys493ArgfsTer?) c.1438_1441dup (p.Lys481ArgfsTer?) c.615_618dup c.166_169dup (p.Lys57ArgfsTer?) c.1555_1558dup (p.Lys520ArgfsTer?) c.1528_1531dup (p.Lys511ArgfsTer?) c.1432_1435dup (p.Lys479ArgfsTer?) c.1039_1042dup (p.Lys348ArgfsTer?) c.1501_1504dup (p.Lys502ArgfsTer?) c.1435_1438dup (p.Lys480ArgfsTer?) c.466_469dup (p.Lys157ArgfsTer?) | ClinVar dbSNP |
20 | g.63414159G>A | CA511203923 | KCNQ2 | c.1506C>T (p.Asp502=) c.1560C>T (p.Asp520=) c.957C>T (p.Asp319=) c.1467C>T (p.Asp489=) c.1128C>T (p.Asp376=) c.1476C>T (p.Asp492=) c.1440C>T (p.Asp480=) c.617C>T c.168C>T (p.Asp56=) c.1557C>T (p.Asp519=) c.1530C>T (p.Asp510=) c.1434C>T (p.Asp478=) c.1041C>T (p.Asp347=) c.1503C>T (p.Asp501=) c.1437C>T (p.Asp479=) c.468C>T (p.Asp156=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63414159G>C | CA409645608 | KCNQ2 | c.1506C>G (p.Asp502Glu) c.1560C>G (p.Asp520Glu) c.957C>G (p.Asp319Glu) c.1467C>G (p.Asp489Glu) c.1128C>G (p.Asp376Glu) c.1476C>G (p.Asp492Glu) c.1440C>G (p.Asp480Glu) c.617C>G c.168C>G (p.Asp56Glu) c.1557C>G (p.Asp519Glu) c.1530C>G (p.Asp510Glu) c.1434C>G (p.Asp478Glu) c.1041C>G (p.Asp347Glu) c.1503C>G (p.Asp501Glu) c.1437C>G (p.Asp479Glu) c.468C>G (p.Asp156Glu) | |
20 | g.63414159G= | CA2374778320 | KCNQ2 | c.1506C= (p.Asp502=) c.1560C= (p.Asp520=) c.957C= (p.Asp319=) c.1467C= (p.Asp489=) c.1128C= (p.Asp376=) c.1476C= (p.Asp492=) c.1440C= (p.Asp480=) c.617C= c.168C= (p.Asp56=) c.1557C= (p.Asp519=) c.1530C= (p.Asp510=) c.1434C= (p.Asp478=) c.1041C= (p.Asp347=) c.1503C= (p.Asp501=) c.1437C= (p.Asp479=) c.468C= (p.Asp156=) | |
20 | g.63414159G>T | CA409645609 | KCNQ2 | c.1506C>A (p.Asp502Glu) c.1560C>A (p.Asp520Glu) c.957C>A (p.Asp319Glu) c.1467C>A (p.Asp489Glu) c.1128C>A (p.Asp376Glu) c.1476C>A (p.Asp492Glu) c.1440C>A (p.Asp480Glu) c.617C>A c.168C>A (p.Asp56Glu) c.1557C>A (p.Asp519Glu) c.1530C>A (p.Asp510Glu) c.1434C>A (p.Asp478Glu) c.1041C>A (p.Asp347Glu) c.1503C>A (p.Asp501Glu) c.1437C>A (p.Asp479Glu) c.468C>A (p.Asp156Glu) | |
20 | g.63414160T>A | CA409645614 | KCNQ2 | c.1505A>T (p.Asp502Val) c.1559A>T (p.Asp520Val) c.956A>T (p.Asp319Val) c.1466A>T (p.Asp489Val) c.1127A>T (p.Asp376Val) c.1475A>T (p.Asp492Val) c.1439A>T (p.Asp480Val) c.616A>T c.167A>T (p.Asp56Val) c.1556A>T (p.Asp519Val) c.1529A>T (p.Asp510Val) c.1433A>T (p.Asp478Val) c.1040A>T (p.Asp347Val) c.1502A>T (p.Asp501Val) c.1436A>T (p.Asp479Val) c.467A>T (p.Asp156Val) | |
20 | g.63414160T>C | CA9958405 | KCNQ2 | c.1505A>G (p.Asp502Gly) c.1559A>G (p.Asp520Gly) c.956A>G (p.Asp319Gly) c.1466A>G (p.Asp489Gly) c.1127A>G (p.Asp376Gly) c.1475A>G (p.Asp492Gly) c.1439A>G (p.Asp480Gly) c.616A>G c.167A>G (p.Asp56Gly) c.1556A>G (p.Asp519Gly) c.1529A>G (p.Asp510Gly) c.1433A>G (p.Asp478Gly) c.1040A>G (p.Asp347Gly) c.1502A>G (p.Asp501Gly) c.1436A>G (p.Asp479Gly) c.467A>G (p.Asp156Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414160T>G | CA409645620 | KCNQ2 | c.1505A>C (p.Asp502Ala) c.1559A>C (p.Asp520Ala) c.956A>C (p.Asp319Ala) c.1466A>C (p.Asp489Ala) c.1127A>C (p.Asp376Ala) c.1475A>C (p.Asp492Ala) c.1439A>C (p.Asp480Ala) c.616A>C c.167A>C (p.Asp56Ala) c.1556A>C (p.Asp519Ala) c.1529A>C (p.Asp510Ala) c.1433A>C (p.Asp478Ala) c.1040A>C (p.Asp347Ala) c.1502A>C (p.Asp501Ala) c.1436A>C (p.Asp479Ala) c.467A>C (p.Asp156Ala) | |
20 | g.63414160T= | CA2374778321 | KCNQ2 | c.1505A= (p.Asp502=) c.1559A= (p.Asp520=) c.956A= (p.Asp319=) c.1466A= (p.Asp489=) c.1127A= (p.Asp376=) c.1475A= (p.Asp492=) c.1439A= (p.Asp480=) c.616A= c.167A= (p.Asp56=) c.1556A= (p.Asp519=) c.1529A= (p.Asp510=) c.1433A= (p.Asp478=) c.1040A= (p.Asp347=) c.1502A= (p.Asp501=) c.1436A= (p.Asp479=) c.467A= (p.Asp156=) | |
20 | g.63414161C>A | CA409645624 | KCNQ2 | c.1504G>T (p.Asp502Tyr) c.1558G>T (p.Asp520Tyr) c.955G>T (p.Asp319Tyr) c.1465G>T (p.Asp489Tyr) c.1126G>T (p.Asp376Tyr) c.1474G>T (p.Asp492Tyr) c.1438G>T (p.Asp480Tyr) c.615G>T c.166G>T (p.Asp56Tyr) c.1555G>T (p.Asp519Tyr) c.1528G>T (p.Asp510Tyr) c.1432G>T (p.Asp478Tyr) c.1039G>T (p.Asp347Tyr) c.1501G>T (p.Asp501Tyr) c.1435G>T (p.Asp479Tyr) c.466G>T (p.Asp156Tyr) | |
20 | g.63414161C= | CA2374778322 | KCNQ2 | c.1504G= (p.Asp502=) c.1558G= (p.Asp520=) c.955G= (p.Asp319=) c.1465G= (p.Asp489=) c.1126G= (p.Asp376=) c.1474G= (p.Asp492=) c.1438G= (p.Asp480=) c.615G= c.166G= (p.Asp56=) c.1555G= (p.Asp519=) c.1528G= (p.Asp510=) c.1432G= (p.Asp478=) c.1039G= (p.Asp347=) c.1501G= (p.Asp501=) c.1435G= (p.Asp479=) c.466G= (p.Asp156=) | |
20 | g.63414161C>G | CA409645627 | KCNQ2 | c.1504G>C (p.Asp502His) c.1558G>C (p.Asp520His) c.955G>C (p.Asp319His) c.1465G>C (p.Asp489His) c.1126G>C (p.Asp376His) c.1474G>C (p.Asp492His) c.1438G>C (p.Asp480His) c.615G>C c.166G>C (p.Asp56His) c.1555G>C (p.Asp519His) c.1528G>C (p.Asp510His) c.1432G>C (p.Asp478His) c.1039G>C (p.Asp347His) c.1501G>C (p.Asp501His) c.1435G>C (p.Asp479His) c.466G>C (p.Asp156His) | |
20 | g.63414161C>T | CA9958406 | KCNQ2 | c.1504G>A (p.Asp502Asn) c.1558G>A (p.Asp520Asn) c.955G>A (p.Asp319Asn) c.1465G>A (p.Asp489Asn) c.1126G>A (p.Asp376Asn) c.1474G>A (p.Asp492Asn) c.1438G>A (p.Asp480Asn) c.615G>A c.166G>A (p.Asp56Asn) c.1555G>A (p.Asp519Asn) c.1528G>A (p.Asp510Asn) c.1432G>A (p.Asp478Asn) c.1039G>A (p.Asp347Asn) c.1501G>A (p.Asp501Asn) c.1435G>A (p.Asp479Asn) c.466G>A (p.Asp156Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63414162A>C | CA409645632 | KCNQ2 | c.1503T>G (p.Asp501Glu) c.1557T>G (p.Asp519Glu) c.954T>G (p.Asp318Glu) c.1464T>G (p.Asp488Glu) c.1125T>G (p.Asp375Glu) c.1473T>G (p.Asp491Glu) c.1437T>G (p.Asp479Glu) c.614T>G c.165T>G (p.Asp55Glu) c.1554T>G (p.Asp518Glu) c.1527T>G (p.Asp509Glu) c.1431T>G (p.Asp477Glu) c.1038T>G (p.Asp346Glu) c.1500T>G (p.Asp500Glu) c.1434T>G (p.Asp478Glu) c.465T>G (p.Asp155Glu) | |
20 | g.63414162A>G | CA511203926 | KCNQ2 | c.1503T>C (p.Asp501=) c.1557T>C (p.Asp519=) c.954T>C (p.Asp318=) c.1464T>C (p.Asp488=) c.1125T>C (p.Asp375=) c.1473T>C (p.Asp491=) c.1437T>C (p.Asp479=) c.614T>C c.165T>C (p.Asp55=) c.1554T>C (p.Asp518=) c.1527T>C (p.Asp509=) c.1431T>C (p.Asp477=) c.1038T>C (p.Asp346=) c.1500T>C (p.Asp500=) c.1434T>C (p.Asp478=) c.465T>C (p.Asp155=) | |
20 | g.63414162A>T | CA409645635 | KCNQ2 | c.1503T>A (p.Asp501Glu) c.1557T>A (p.Asp519Glu) c.954T>A (p.Asp318Glu) c.1464T>A (p.Asp488Glu) c.1125T>A (p.Asp375Glu) c.1473T>A (p.Asp491Glu) c.1437T>A (p.Asp479Glu) c.614T>A c.165T>A (p.Asp55Glu) c.1554T>A (p.Asp518Glu) c.1527T>A (p.Asp509Glu) c.1431T>A (p.Asp477Glu) c.1038T>A (p.Asp346Glu) c.1500T>A (p.Asp500Glu) c.1434T>A (p.Asp478Glu) c.465T>A (p.Asp155Glu) | |
20 | g.63414163T>A | CA409645637 | KCNQ2 | c.1502A>T (p.Asp501Val) c.1556A>T (p.Asp519Val) c.953A>T (p.Asp318Val) c.1463A>T (p.Asp488Val) c.1124A>T (p.Asp375Val) c.1472A>T (p.Asp491Val) c.1436A>T (p.Asp479Val) c.613A>T c.164A>T (p.Asp55Val) c.1553A>T (p.Asp518Val) c.1526A>T (p.Asp509Val) c.1430A>T (p.Asp477Val) c.1037A>T (p.Asp346Val) c.1499A>T (p.Asp500Val) c.1433A>T (p.Asp478Val) c.464A>T (p.Asp155Val) | |
20 | g.63414163T>C | CA409645640 | KCNQ2 | c.1502A>G (p.Asp501Gly) c.1556A>G (p.Asp519Gly) c.953A>G (p.Asp318Gly) c.1463A>G (p.Asp488Gly) c.1124A>G (p.Asp375Gly) c.1472A>G (p.Asp491Gly) c.1436A>G (p.Asp479Gly) c.613A>G c.164A>G (p.Asp55Gly) c.1553A>G (p.Asp518Gly) c.1526A>G (p.Asp509Gly) c.1430A>G (p.Asp477Gly) c.1037A>G (p.Asp346Gly) c.1499A>G (p.Asp500Gly) c.1433A>G (p.Asp478Gly) c.464A>G (p.Asp155Gly) | dbSNP |
20 | g.63414163T>G | CA409645643 | KCNQ2 | c.1502A>C (p.Asp501Ala) c.1556A>C (p.Asp519Ala) c.953A>C (p.Asp318Ala) c.1463A>C (p.Asp488Ala) c.1124A>C (p.Asp375Ala) c.1472A>C (p.Asp491Ala) c.1436A>C (p.Asp479Ala) c.613A>C c.164A>C (p.Asp55Ala) c.1553A>C (p.Asp518Ala) c.1526A>C (p.Asp509Ala) c.1430A>C (p.Asp477Ala) c.1037A>C (p.Asp346Ala) c.1499A>C (p.Asp500Ala) c.1433A>C (p.Asp478Ala) c.464A>C (p.Asp155Ala) | |
20 | g.63414163T= | CA2374778323 | KCNQ2 | c.1502A= (p.Asp501=) c.1556A= (p.Asp519=) c.953A= (p.Asp318=) c.1463A= (p.Asp488=) c.1124A= (p.Asp375=) c.1472A= (p.Asp491=) c.1436A= (p.Asp479=) c.613A= c.164A= (p.Asp55=) c.1553A= (p.Asp518=) c.1526A= (p.Asp509=) c.1430A= (p.Asp477=) c.1037A= (p.Asp346=) c.1499A= (p.Asp500=) c.1433A= (p.Asp478=) c.464A= (p.Asp155=) | |
20 | g.63414164C>A | CA409645652 | KCNQ2 | c.1501G>T (p.Asp501Tyr) c.1555G>T (p.Asp519Tyr) c.952G>T (p.Asp318Tyr) c.1462G>T (p.Asp488Tyr) c.1123G>T (p.Asp375Tyr) c.1471G>T (p.Asp491Tyr) c.1435G>T (p.Asp479Tyr) c.612G>T c.163G>T (p.Asp55Tyr) c.1552G>T (p.Asp518Tyr) c.1525G>T (p.Asp509Tyr) c.1429G>T (p.Asp477Tyr) c.1036G>T (p.Asp346Tyr) c.1498G>T (p.Asp500Tyr) c.1432G>T (p.Asp478Tyr) c.463G>T (p.Asp155Tyr) | |
20 | g.63414164C= | CA2374778324 | KCNQ2 | c.1501G= (p.Asp501=) c.1555G= (p.Asp519=) c.952G= (p.Asp318=) c.1462G= (p.Asp488=) c.1123G= (p.Asp375=) c.1471G= (p.Asp491=) c.1435G= (p.Asp479=) c.612G= c.163G= (p.Asp55=) c.1552G= (p.Asp518=) c.1525G= (p.Asp509=) c.1429G= (p.Asp477=) c.1036G= (p.Asp346=) c.1498G= (p.Asp500=) c.1432G= (p.Asp478=) c.463G= (p.Asp155=) | |
20 | g.63414164C>G | CA409645649 | KCNQ2 | c.1501G>C (p.Asp501His) c.1555G>C (p.Asp519His) c.952G>C (p.Asp318His) c.1462G>C (p.Asp488His) c.1123G>C (p.Asp375His) c.1471G>C (p.Asp491His) c.1435G>C (p.Asp479His) c.612G>C c.163G>C (p.Asp55His) c.1552G>C (p.Asp518His) c.1525G>C (p.Asp509His) c.1429G>C (p.Asp477His) c.1036G>C (p.Asp346His) c.1498G>C (p.Asp500His) c.1432G>C (p.Asp478His) c.463G>C (p.Asp155His) | |
20 | g.63414164C>T | CA317429775 | KCNQ2 | c.1501G>A (p.Asp501Asn) c.1555G>A (p.Asp519Asn) c.952G>A (p.Asp318Asn) c.1462G>A (p.Asp488Asn) c.1123G>A (p.Asp375Asn) c.1471G>A (p.Asp491Asn) c.1435G>A (p.Asp479Asn) c.612G>A c.163G>A (p.Asp55Asn) c.1552G>A (p.Asp518Asn) c.1525G>A (p.Asp509Asn) c.1429G>A (p.Asp477Asn) c.1036G>A (p.Asp346Asn) c.1498G>A (p.Asp500Asn) c.1432G>A (p.Asp478Asn) c.463G>A (p.Asp155Asn) | dbSNP gnomAD v4 |
20 | g.63414165C>A | CA511203927 | KCNQ2 | c.1500G>T (p.Val500=) c.1554G>T (p.Val518=) c.951G>T (p.Val317=) c.1461G>T (p.Val487=) c.1122G>T (p.Val374=) c.1470G>T (p.Val490=) c.1434G>T (p.Val478=) c.611G>T c.162G>T (p.Val54=) c.1551G>T (p.Val517=) c.1524G>T (p.Val508=) c.1428G>T (p.Val476=) c.1035G>T (p.Val345=) c.1497G>T (p.Val499=) c.1431G>T (p.Val477=) c.462G>T (p.Val154=) | |
20 | g.63414165C>G | CA511203928 | KCNQ2 | c.1500G>C (p.Val500=) c.1554G>C (p.Val518=) c.951G>C (p.Val317=) c.1461G>C (p.Val487=) c.1122G>C (p.Val374=) c.1470G>C (p.Val490=) c.1434G>C (p.Val478=) c.611G>C c.162G>C (p.Val54=) c.1551G>C (p.Val517=) c.1524G>C (p.Val508=) c.1428G>C (p.Val476=) c.1035G>C (p.Val345=) c.1497G>C (p.Val499=) c.1431G>C (p.Val477=) c.462G>C (p.Val154=) | |
20 | g.63414165C>T | CA511203929 | KCNQ2 | c.1500G>A (p.Val500=) c.1554G>A (p.Val518=) c.951G>A (p.Val317=) c.1461G>A (p.Val487=) c.1122G>A (p.Val374=) c.1470G>A (p.Val490=) c.1434G>A (p.Val478=) c.611G>A c.162G>A (p.Val54=) c.1551G>A (p.Val517=) c.1524G>A (p.Val508=) c.1428G>A (p.Val476=) c.1035G>A (p.Val345=) c.1497G>A (p.Val499=) c.1431G>A (p.Val477=) c.462G>A (p.Val154=) | |
20 | g.63414166A>C | CA409645656 | KCNQ2 | c.1499T>G (p.Val500Gly) c.1553T>G (p.Val518Gly) c.950T>G (p.Val317Gly) c.1460T>G (p.Val487Gly) c.1121T>G (p.Val374Gly) c.1469T>G (p.Val490Gly) c.1433T>G (p.Val478Gly) c.610T>G c.161T>G (p.Val54Gly) c.1550T>G (p.Val517Gly) c.1523T>G (p.Val508Gly) c.1427T>G (p.Val476Gly) c.1034T>G (p.Val345Gly) c.1496T>G (p.Val499Gly) c.1430T>G (p.Val477Gly) c.461T>G (p.Val154Gly) | |
20 | g.63414166A>G | CA409645659 | KCNQ2 | c.1499T>C (p.Val500Ala) c.1553T>C (p.Val518Ala) c.950T>C (p.Val317Ala) c.1460T>C (p.Val487Ala) c.1121T>C (p.Val374Ala) c.1469T>C (p.Val490Ala) c.1433T>C (p.Val478Ala) c.610T>C c.161T>C (p.Val54Ala) c.1550T>C (p.Val517Ala) c.1523T>C (p.Val508Ala) c.1427T>C (p.Val476Ala) c.1034T>C (p.Val345Ala) c.1496T>C (p.Val499Ala) c.1430T>C (p.Val477Ala) c.461T>C (p.Val154Ala) | |
20 | g.63414166A>T | CA409645662 | KCNQ2 | c.1499T>A (p.Val500Glu) c.1553T>A (p.Val518Glu) c.950T>A (p.Val317Glu) c.1460T>A (p.Val487Glu) c.1121T>A (p.Val374Glu) c.1469T>A (p.Val490Glu) c.1433T>A (p.Val478Glu) c.610T>A c.161T>A (p.Val54Glu) c.1550T>A (p.Val517Glu) c.1523T>A (p.Val508Glu) c.1427T>A (p.Val476Glu) c.1034T>A (p.Val345Glu) c.1496T>A (p.Val499Glu) c.1430T>A (p.Val477Glu) c.461T>A (p.Val154Glu) | |
20 | g.63414167C>A | CA409645665 | KCNQ2 | c.1498G>T (p.Val500Leu) c.1552G>T (p.Val518Leu) c.949G>T (p.Val317Leu) c.1459G>T (p.Val487Leu) c.1120G>T (p.Val374Leu) c.1468G>T (p.Val490Leu) c.1432G>T (p.Val478Leu) c.609G>T c.160G>T (p.Val54Leu) c.1549G>T (p.Val517Leu) c.1522G>T (p.Val508Leu) c.1426G>T (p.Val476Leu) c.1033G>T (p.Val345Leu) c.1495G>T (p.Val499Leu) c.1429G>T (p.Val477Leu) c.460G>T (p.Val154Leu) | |
20 | g.63414167C= | CA2374778325 | KCNQ2 | c.1498G= (p.Val500=) c.1552G= (p.Val518=) c.949G= (p.Val317=) c.1459G= (p.Val487=) c.1120G= (p.Val374=) c.1468G= (p.Val490=) c.1432G= (p.Val478=) c.609G= c.160G= (p.Val54=) c.1549G= (p.Val517=) c.1522G= (p.Val508=) c.1426G= (p.Val476=) c.1033G= (p.Val345=) c.1495G= (p.Val499=) c.1429G= (p.Val477=) c.460G= (p.Val154=) | |
20 | g.63414167C>G | CA409645667 | KCNQ2 | c.1498G>C (p.Val500Leu) c.1552G>C (p.Val518Leu) c.949G>C (p.Val317Leu) c.1459G>C (p.Val487Leu) c.1120G>C (p.Val374Leu) c.1468G>C (p.Val490Leu) c.1432G>C (p.Val478Leu) c.609G>C c.160G>C (p.Val54Leu) c.1549G>C (p.Val517Leu) c.1522G>C (p.Val508Leu) c.1426G>C (p.Val476Leu) c.1033G>C (p.Val345Leu) c.1495G>C (p.Val499Leu) c.1429G>C (p.Val477Leu) c.460G>C (p.Val154Leu) | |
20 | g.63414167C>T | CA409645670 | KCNQ2 | c.1498G>A (p.Val500Met) c.1552G>A (p.Val518Met) c.949G>A (p.Val317Met) c.1459G>A (p.Val487Met) c.1120G>A (p.Val374Met) c.1468G>A (p.Val490Met) c.1432G>A (p.Val478Met) c.609G>A c.160G>A (p.Val54Met) c.1549G>A (p.Val517Met) c.1522G>A (p.Val508Met) c.1426G>A (p.Val476Met) c.1033G>A (p.Val345Met) c.1495G>A (p.Val499Met) c.1429G>A (p.Val477Met) c.460G>A (p.Val154Met) | dbSNP |
20 | g.63414168A>C | CA409645672 | KCNQ2 | c.1497T>G (p.Ile499Met) c.1551T>G (p.Ile517Met) c.948T>G (p.Ile316Met) c.1458T>G (p.Ile486Met) c.1119T>G (p.Ile373Met) c.1467T>G (p.Ile489Met) c.1431T>G (p.Ile477Met) c.608T>G c.159T>G (p.Ile53Met) c.1548T>G (p.Ile516Met) c.1521T>G (p.Ile507Met) c.1425T>G (p.Ile475Met) c.1032T>G (p.Ile344Met) c.1494T>G (p.Ile498Met) c.1428T>G (p.Ile476Met) c.459T>G (p.Ile153Met) | |
20 | g.63414168A>G | CA511203933 | KCNQ2 | c.1497T>C (p.Ile499=) c.1551T>C (p.Ile517=) c.948T>C (p.Ile316=) c.1458T>C (p.Ile486=) c.1119T>C (p.Ile373=) c.1467T>C (p.Ile489=) c.1431T>C (p.Ile477=) c.608T>C c.159T>C (p.Ile53=) c.1548T>C (p.Ile516=) c.1521T>C (p.Ile507=) c.1425T>C (p.Ile475=) c.1032T>C (p.Ile344=) c.1494T>C (p.Ile498=) c.1428T>C (p.Ile476=) c.459T>C (p.Ile153=) | |
20 | g.63414168A>T | CA511203934 | KCNQ2 | c.1497T>A (p.Ile499=) c.1551T>A (p.Ile517=) c.948T>A (p.Ile316=) c.1458T>A (p.Ile486=) c.1119T>A (p.Ile373=) c.1467T>A (p.Ile489=) c.1431T>A (p.Ile477=) c.608T>A c.159T>A (p.Ile53=) c.1548T>A (p.Ile516=) c.1521T>A (p.Ile507=) c.1425T>A (p.Ile475=) c.1032T>A (p.Ile344=) c.1494T>A (p.Ile498=) c.1428T>A (p.Ile476=) c.459T>A (p.Ile153=) | |
20 | g.63414169A= | CA2374778326 | KCNQ2 | c.1496T= (p.Ile499=) c.1550T= (p.Ile517=) c.947T= (p.Ile316=) c.1457T= (p.Ile486=) c.1118T= (p.Ile373=) c.1466T= (p.Ile489=) c.1430T= (p.Ile477=) c.607T= c.158T= (p.Ile53=) c.1547T= (p.Ile516=) c.1520T= (p.Ile507=) c.1424T= (p.Ile475=) c.1031T= (p.Ile344=) c.1493T= (p.Ile498=) c.1427T= (p.Ile476=) c.458T= (p.Ile153=) | |
20 | g.63414169A>C | CA409645675 | KCNQ2 | c.1496T>G (p.Ile499Ser) c.1550T>G (p.Ile517Ser) c.947T>G (p.Ile316Ser) c.1457T>G (p.Ile486Ser) c.1118T>G (p.Ile373Ser) c.1466T>G (p.Ile489Ser) c.1430T>G (p.Ile477Ser) c.607T>G c.158T>G (p.Ile53Ser) c.1547T>G (p.Ile516Ser) c.1520T>G (p.Ile507Ser) c.1424T>G (p.Ile475Ser) c.1031T>G (p.Ile344Ser) c.1493T>G (p.Ile498Ser) c.1427T>G (p.Ile476Ser) c.458T>G (p.Ile153Ser) | |
20 | g.63414169A>G | CA9958407 | KCNQ2 | c.1496T>C (p.Ile499Thr) c.1550T>C (p.Ile517Thr) c.947T>C (p.Ile316Thr) c.1457T>C (p.Ile486Thr) c.1118T>C (p.Ile373Thr) c.1466T>C (p.Ile489Thr) c.1430T>C (p.Ile477Thr) c.607T>C c.158T>C (p.Ile53Thr) c.1547T>C (p.Ile516Thr) c.1520T>C (p.Ile507Thr) c.1424T>C (p.Ile475Thr) c.1031T>C (p.Ile344Thr) c.1493T>C (p.Ile498Thr) c.1427T>C (p.Ile476Thr) c.458T>C (p.Ile153Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63414169A>T | CA409645680 | KCNQ2 | c.1496T>A (p.Ile499Asn) c.1550T>A (p.Ile517Asn) c.947T>A (p.Ile316Asn) c.1457T>A (p.Ile486Asn) c.1118T>A (p.Ile373Asn) c.1466T>A (p.Ile489Asn) c.1430T>A (p.Ile477Asn) c.607T>A c.158T>A (p.Ile53Asn) c.1547T>A (p.Ile516Asn) c.1520T>A (p.Ile507Asn) c.1424T>A (p.Ile475Asn) c.1031T>A (p.Ile344Asn) c.1493T>A (p.Ile498Asn) c.1427T>A (p.Ile476Asn) c.458T>A (p.Ile153Asn) | |
20 | g.63414169_63414170insGACATCT | CA2837240856 | KCNQ2 | c.1495_1496insAGATGTC (p.Ile499LysfsTer6) c.1549_1550insAGATGTC (p.Ile517LysfsTer6) c.946_947insAGATGTC (p.Ile316LysfsTer6) c.1456_1457insAGATGTC (p.Ile486LysfsTer6) c.1117_1118insAGATGTC (p.Ile373LysfsTer6) c.1465_1466insAGATGTC (p.Ile489LysfsTer6) c.1429_1430insAGATGTC (p.Ile477LysfsTer6) c.606_607insAGATGTC c.157_158insAGATGTC (p.Ile53LysfsTer6) c.1546_1547insAGATGTC (p.Ile516LysfsTer6) c.1519_1520insAGATGTC (p.Ile507LysfsTer6) c.1423_1424insAGATGTC (p.Ile475LysfsTer6) c.1030_1031insAGATGTC (p.Ile344LysfsTer6) c.1492_1493insAGATGTC (p.Ile498LysfsTer6) c.1426_1427insAGATGTC (p.Ile476LysfsTer6) c.457_458insAGATGTC (p.Ile153LysfsTer6) | |
20 | g.63414170T>A | CA409645683 | KCNQ2 | c.1495A>T (p.Ile499Phe) c.1549A>T (p.Ile517Phe) c.946A>T (p.Ile316Phe) c.1456A>T (p.Ile486Phe) c.1117A>T (p.Ile373Phe) c.1465A>T (p.Ile489Phe) c.1429A>T (p.Ile477Phe) c.606A>T c.157A>T (p.Ile53Phe) c.1546A>T (p.Ile516Phe) c.1519A>T (p.Ile507Phe) c.1423A>T (p.Ile475Phe) c.1030A>T (p.Ile344Phe) c.1492A>T (p.Ile498Phe) c.1426A>T (p.Ile476Phe) c.457A>T (p.Ile153Phe) | |
20 | g.63414170T>C | CA9958408 | KCNQ2 | c.1495A>G (p.Ile499Val) c.1549A>G (p.Ile517Val) c.946A>G (p.Ile316Val) c.1456A>G (p.Ile486Val) c.1117A>G (p.Ile373Val) c.1465A>G (p.Ile489Val) c.1429A>G (p.Ile477Val) c.606A>G c.157A>G (p.Ile53Val) c.1546A>G (p.Ile516Val) c.1519A>G (p.Ile507Val) c.1423A>G (p.Ile475Val) c.1030A>G (p.Ile344Val) c.1492A>G (p.Ile498Val) c.1426A>G (p.Ile476Val) c.457A>G (p.Ile153Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414170T>G | CA409645688 | KCNQ2 | c.1495A>C (p.Ile499Leu) c.1549A>C (p.Ile517Leu) c.946A>C (p.Ile316Leu) c.1456A>C (p.Ile486Leu) c.1117A>C (p.Ile373Leu) c.1465A>C (p.Ile489Leu) c.1429A>C (p.Ile477Leu) c.606A>C c.157A>C (p.Ile53Leu) c.1546A>C (p.Ile516Leu) c.1519A>C (p.Ile507Leu) c.1423A>C (p.Ile475Leu) c.1030A>C (p.Ile344Leu) c.1492A>C (p.Ile498Leu) c.1426A>C (p.Ile476Leu) c.457A>C (p.Ile153Leu) | |
20 | g.63414170T= | CA2374778327 | KCNQ2 | c.1495A= (p.Ile499=) c.1549A= (p.Ile517=) c.946A= (p.Ile316=) c.1456A= (p.Ile486=) c.1117A= (p.Ile373=) c.1465A= (p.Ile489=) c.1429A= (p.Ile477=) c.606A= c.157A= (p.Ile53=) c.1546A= (p.Ile516=) c.1519A= (p.Ile507=) c.1423A= (p.Ile475=) c.1030A= (p.Ile344=) c.1492A= (p.Ile498=) c.1426A= (p.Ile476=) c.457A= (p.Ile153=) | |
20 | g.63414171G>A | CA511203936 | KCNQ2 | c.1494C>T (p.Asp498=) c.1548C>T (p.Asp516=) c.945C>T (p.Asp315=) c.1455C>T (p.Asp485=) c.1116C>T (p.Asp372=) c.1464C>T (p.Asp488=) c.1428C>T (p.Asp476=) c.605C>T c.156C>T (p.Asp52=) c.1545C>T (p.Asp515=) c.1518C>T (p.Asp506=) c.1422C>T (p.Asp474=) c.1029C>T (p.Asp343=) c.1491C>T (p.Asp497=) c.1425C>T (p.Asp475=) c.456C>T (p.Asp152=) | |
20 | g.63414171G>C | CA409645694 | KCNQ2 | c.1494C>G (p.Asp498Glu) c.1548C>G (p.Asp516Glu) c.945C>G (p.Asp315Glu) c.1455C>G (p.Asp485Glu) c.1116C>G (p.Asp372Glu) c.1464C>G (p.Asp488Glu) c.1428C>G (p.Asp476Glu) c.605C>G c.156C>G (p.Asp52Glu) c.1545C>G (p.Asp515Glu) c.1518C>G (p.Asp506Glu) c.1422C>G (p.Asp474Glu) c.1029C>G (p.Asp343Glu) c.1491C>G (p.Asp497Glu) c.1425C>G (p.Asp475Glu) c.456C>G (p.Asp152Glu) | dbSNP gnomAD v2 |
20 | g.63414171G= | CA2374778328 | KCNQ2 | c.1494C= (p.Asp498=) c.1548C= (p.Asp516=) c.945C= (p.Asp315=) c.1455C= (p.Asp485=) c.1116C= (p.Asp372=) c.1464C= (p.Asp488=) c.1428C= (p.Asp476=) c.605C= c.156C= (p.Asp52=) c.1545C= (p.Asp515=) c.1518C= (p.Asp506=) c.1422C= (p.Asp474=) c.1029C= (p.Asp343=) c.1491C= (p.Asp497=) c.1425C= (p.Asp475=) c.456C= (p.Asp152=) | |
20 | g.63414171G>T | CA409645693 | KCNQ2 | c.1494C>A (p.Asp498Glu) c.1548C>A (p.Asp516Glu) c.945C>A (p.Asp315Glu) c.1455C>A (p.Asp485Glu) c.1116C>A (p.Asp372Glu) c.1464C>A (p.Asp488Glu) c.1428C>A (p.Asp476Glu) c.605C>A c.156C>A (p.Asp52Glu) c.1545C>A (p.Asp515Glu) c.1518C>A (p.Asp506Glu) c.1422C>A (p.Asp474Glu) c.1029C>A (p.Asp343Glu) c.1491C>A (p.Asp497Glu) c.1425C>A (p.Asp475Glu) c.456C>A (p.Asp152Glu) | |
20 | g.63414172T>A | CA409645697 | KCNQ2 | c.1493A>T (p.Asp498Val) c.1547A>T (p.Asp516Val) c.944A>T (p.Asp315Val) c.1454A>T (p.Asp485Val) c.1115A>T (p.Asp372Val) c.1463A>T (p.Asp488Val) c.1427A>T (p.Asp476Val) c.604A>T c.155A>T (p.Asp52Val) c.1544A>T (p.Asp515Val) c.1517A>T (p.Asp506Val) c.1421A>T (p.Asp474Val) c.1028A>T (p.Asp343Val) c.1490A>T (p.Asp497Val) c.1424A>T (p.Asp475Val) c.455A>T (p.Asp152Val) | |
20 | g.63414172T>C | CA409645700 | KCNQ2 | c.1493A>G (p.Asp498Gly) c.1547A>G (p.Asp516Gly) c.944A>G (p.Asp315Gly) c.1454A>G (p.Asp485Gly) c.1115A>G (p.Asp372Gly) c.1463A>G (p.Asp488Gly) c.1427A>G (p.Asp476Gly) c.604A>G c.155A>G (p.Asp52Gly) c.1544A>G (p.Asp515Gly) c.1517A>G (p.Asp506Gly) c.1421A>G (p.Asp474Gly) c.1028A>G (p.Asp343Gly) c.1490A>G (p.Asp497Gly) c.1424A>G (p.Asp475Gly) c.455A>G (p.Asp152Gly) | |
20 | g.63414172T>G | CA409645702 | KCNQ2 | c.1493A>C (p.Asp498Ala) c.1547A>C (p.Asp516Ala) c.944A>C (p.Asp315Ala) c.1454A>C (p.Asp485Ala) c.1115A>C (p.Asp372Ala) c.1463A>C (p.Asp488Ala) c.1427A>C (p.Asp476Ala) c.604A>C c.155A>C (p.Asp52Ala) c.1544A>C (p.Asp515Ala) c.1517A>C (p.Asp506Ala) c.1421A>C (p.Asp474Ala) c.1028A>C (p.Asp343Ala) c.1490A>C (p.Asp497Ala) c.1424A>C (p.Asp475Ala) c.455A>C (p.Asp152Ala) | |
20 | g.63414173C>A | CA409645706 | KCNQ2 | c.1492G>T (p.Asp498Tyr) c.1546G>T (p.Asp516Tyr) c.943G>T (p.Asp315Tyr) c.1453G>T (p.Asp485Tyr) c.1114G>T (p.Asp372Tyr) c.1462G>T (p.Asp488Tyr) c.1426G>T (p.Asp476Tyr) c.603G>T c.154G>T (p.Asp52Tyr) c.1543G>T (p.Asp515Tyr) c.1516G>T (p.Asp506Tyr) c.1420G>T (p.Asp474Tyr) c.1027G>T (p.Asp343Tyr) c.1489G>T (p.Asp497Tyr) c.1423G>T (p.Asp475Tyr) c.454G>T (p.Asp152Tyr) | |
20 | g.63414173C>G | CA409645707 | KCNQ2 | c.1492G>C (p.Asp498His) c.1546G>C (p.Asp516His) c.943G>C (p.Asp315His) c.1453G>C (p.Asp485His) c.1114G>C (p.Asp372His) c.1462G>C (p.Asp488His) c.1426G>C (p.Asp476His) c.603G>C c.154G>C (p.Asp52His) c.1543G>C (p.Asp515His) c.1516G>C (p.Asp506His) c.1420G>C (p.Asp474His) c.1027G>C (p.Asp343His) c.1489G>C (p.Asp497His) c.1423G>C (p.Asp475His) c.454G>C (p.Asp152His) | |
20 | g.63414173C>T | CA409645709 | KCNQ2 | c.1492G>A (p.Asp498Asn) c.1546G>A (p.Asp516Asn) c.943G>A (p.Asp315Asn) c.1453G>A (p.Asp485Asn) c.1114G>A (p.Asp372Asn) c.1462G>A (p.Asp488Asn) c.1426G>A (p.Asp476Asn) c.603G>A c.154G>A (p.Asp52Asn) c.1543G>A (p.Asp515Asn) c.1516G>A (p.Asp506Asn) c.1420G>A (p.Asp474Asn) c.1027G>A (p.Asp343Asn) c.1489G>A (p.Asp497Asn) c.1423G>A (p.Asp475Asn) c.454G>A (p.Asp152Asn) | |
20 | g.63414174C>A | CA9958409 | KCNQ2 | c.1491G>T (p.Glu497Asp) c.1545G>T (p.Glu515Asp) c.942G>T (p.Glu314Asp) c.1452G>T (p.Glu484Asp) c.1113G>T (p.Glu371Asp) c.1461G>T (p.Glu487Asp) c.1425G>T (p.Glu475Asp) c.602G>T c.153G>T (p.Glu51Asp) c.1542G>T (p.Glu514Asp) c.1515G>T (p.Glu505Asp) c.1419G>T (p.Glu473Asp) c.1026G>T (p.Glu342Asp) c.1488G>T (p.Glu496Asp) c.1422G>T (p.Glu474Asp) c.453G>T (p.Glu151Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414174C= | CA2374778329 | KCNQ2 | c.1491G= (p.Glu497=) c.1545G= (p.Glu515=) c.942G= (p.Glu314=) c.1452G= (p.Glu484=) c.1113G= (p.Glu371=) c.1461G= (p.Glu487=) c.1425G= (p.Glu475=) c.602G= c.153G= (p.Glu51=) c.1542G= (p.Glu514=) c.1515G= (p.Glu505=) c.1419G= (p.Glu473=) c.1026G= (p.Glu342=) c.1488G= (p.Glu496=) c.1422G= (p.Glu474=) c.453G= (p.Glu151=) | |
20 | g.63414174C>G | CA288924 | KCNQ2 | c.1491G>C (p.Glu497Asp) c.1545G>C (p.Glu515Asp) c.942G>C (p.Glu314Asp) c.1452G>C (p.Glu484Asp) c.1113G>C (p.Glu371Asp) c.1461G>C (p.Glu487Asp) c.1425G>C (p.Glu475Asp) c.602G>C c.153G>C (p.Glu51Asp) c.1542G>C (p.Glu514Asp) c.1515G>C (p.Glu505Asp) c.1419G>C (p.Glu473Asp) c.1026G>C (p.Glu342Asp) c.1488G>C (p.Glu496Asp) c.1422G>C (p.Glu474Asp) c.453G>C (p.Glu151Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414174C>T | CA511203940 | KCNQ2 | c.1491G>A (p.Glu497=) c.1545G>A (p.Glu515=) c.942G>A (p.Glu314=) c.1452G>A (p.Glu484=) c.1113G>A (p.Glu371=) c.1461G>A (p.Glu487=) c.1425G>A (p.Glu475=) c.602G>A c.153G>A (p.Glu51=) c.1542G>A (p.Glu514=) c.1515G>A (p.Glu505=) c.1419G>A (p.Glu473=) c.1026G>A (p.Glu342=) c.1488G>A (p.Glu496=) c.1422G>A (p.Glu474=) c.453G>A (p.Glu151=) | |
20 | g.63414175T>A | CA409645719 | KCNQ2 | c.1490A>T (p.Glu497Val) c.1544A>T (p.Glu515Val) c.941A>T (p.Glu314Val) c.1451A>T (p.Glu484Val) c.1112A>T (p.Glu371Val) c.1460A>T (p.Glu487Val) c.1424A>T (p.Glu475Val) c.601A>T c.152A>T (p.Glu51Val) c.1541A>T (p.Glu514Val) c.1514A>T (p.Glu505Val) c.1418A>T (p.Glu473Val) c.1025A>T (p.Glu342Val) c.1487A>T (p.Glu496Val) c.1421A>T (p.Glu474Val) c.452A>T (p.Glu151Val) | |
20 | g.63414175T>C | CA409645721 | KCNQ2 | c.1490A>G (p.Glu497Gly) c.1544A>G (p.Glu515Gly) c.941A>G (p.Glu314Gly) c.1451A>G (p.Glu484Gly) c.1112A>G (p.Glu371Gly) c.1460A>G (p.Glu487Gly) c.1424A>G (p.Glu475Gly) c.601A>G c.152A>G (p.Glu51Gly) c.1541A>G (p.Glu514Gly) c.1514A>G (p.Glu505Gly) c.1418A>G (p.Glu473Gly) c.1025A>G (p.Glu342Gly) c.1487A>G (p.Glu496Gly) c.1421A>G (p.Glu474Gly) c.452A>G (p.Glu151Gly) | gnomAD v4 |
20 | g.63414175T>G | CA409645724 | KCNQ2 | c.1490A>C (p.Glu497Ala) c.1544A>C (p.Glu515Ala) c.941A>C (p.Glu314Ala) c.1451A>C (p.Glu484Ala) c.1112A>C (p.Glu371Ala) c.1460A>C (p.Glu487Ala) c.1424A>C (p.Glu475Ala) c.601A>C c.152A>C (p.Glu51Ala) c.1541A>C (p.Glu514Ala) c.1514A>C (p.Glu505Ala) c.1418A>C (p.Glu473Ala) c.1025A>C (p.Glu342Ala) c.1487A>C (p.Glu496Ala) c.1421A>C (p.Glu474Ala) c.452A>C (p.Glu151Ala) | |
20 | g.63414176C>A | CA409645726 | KCNQ2 | c.1489G>T (p.Glu497Ter) c.1543G>T (p.Glu515Ter) c.940G>T (p.Glu314Ter) c.1450G>T (p.Glu484Ter) c.1111G>T (p.Glu371Ter) c.1459G>T (p.Glu487Ter) c.1423G>T (p.Glu475Ter) c.600G>T c.151G>T (p.Glu51Ter) c.1540G>T (p.Glu514Ter) c.1513G>T (p.Glu505Ter) c.1417G>T (p.Glu473Ter) c.1024G>T (p.Glu342Ter) c.1486G>T (p.Glu496Ter) c.1420G>T (p.Glu474Ter) c.451G>T (p.Glu151Ter) | |
20 | g.63414176C>G | CA409645728 | KCNQ2 | c.1489G>C (p.Glu497Gln) c.1543G>C (p.Glu515Gln) c.940G>C (p.Glu314Gln) c.1450G>C (p.Glu484Gln) c.1111G>C (p.Glu371Gln) c.1459G>C (p.Glu487Gln) c.1423G>C (p.Glu475Gln) c.600G>C c.151G>C (p.Glu51Gln) c.1540G>C (p.Glu514Gln) c.1513G>C (p.Glu505Gln) c.1417G>C (p.Glu473Gln) c.1024G>C (p.Glu342Gln) c.1486G>C (p.Glu496Gln) c.1420G>C (p.Glu474Gln) c.451G>C (p.Glu151Gln) | ClinVar COSMIC COSMIC COSMIC |
20 | g.63414176C>T | CA409645730 | KCNQ2 | c.1489G>A (p.Glu497Lys) c.1543G>A (p.Glu515Lys) c.940G>A (p.Glu314Lys) c.1450G>A (p.Glu484Lys) c.1111G>A (p.Glu371Lys) c.1459G>A (p.Glu487Lys) c.1423G>A (p.Glu475Lys) c.600G>A c.151G>A (p.Glu51Lys) c.1540G>A (p.Glu514Lys) c.1513G>A (p.Glu505Lys) c.1417G>A (p.Glu473Lys) c.1024G>A (p.Glu342Lys) c.1486G>A (p.Glu496Lys) c.1420G>A (p.Glu474Lys) c.451G>A (p.Glu151Lys) | |
20 | g.63414177T>A | CA511203941 | KCNQ2 | c.1488A>T (p.Gly496=) c.1542A>T (p.Gly514=) c.939A>T (p.Gly313=) c.1449A>T (p.Gly483=) c.1110A>T (p.Gly370=) c.1458A>T (p.Gly486=) c.1422A>T (p.Gly474=) c.599A>T c.150A>T (p.Gly50=) c.1539A>T (p.Gly513=) c.1512A>T (p.Gly504=) c.1416A>T (p.Gly472=) c.1023A>T (p.Gly341=) c.1485A>T (p.Gly495=) c.1419A>T (p.Gly473=) c.450A>T (p.Gly150=) | |
20 | g.63414177T>C | CA9958410 | KCNQ2 | c.1488A>G (p.Gly496=) c.1542A>G (p.Gly514=) c.939A>G (p.Gly313=) c.1449A>G (p.Gly483=) c.1110A>G (p.Gly370=) c.1458A>G (p.Gly486=) c.1422A>G (p.Gly474=) c.599A>G c.150A>G (p.Gly50=) c.1539A>G (p.Gly513=) c.1512A>G (p.Gly504=) c.1416A>G (p.Gly472=) c.1023A>G (p.Gly341=) c.1485A>G (p.Gly495=) c.1419A>G (p.Gly473=) c.450A>G (p.Gly150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414177T>G | CA511203942 | KCNQ2 | c.1488A>C (p.Gly496=) c.1542A>C (p.Gly514=) c.939A>C (p.Gly313=) c.1449A>C (p.Gly483=) c.1110A>C (p.Gly370=) c.1458A>C (p.Gly486=) c.1422A>C (p.Gly474=) c.599A>C c.150A>C (p.Gly50=) c.1539A>C (p.Gly513=) c.1512A>C (p.Gly504=) c.1416A>C (p.Gly472=) c.1023A>C (p.Gly341=) c.1485A>C (p.Gly495=) c.1419A>C (p.Gly473=) c.450A>C (p.Gly150=) | |
20 | g.63414177T= | CA2374778330 | KCNQ2 | c.1488A= (p.Gly496=) c.1542A= (p.Gly514=) c.939A= (p.Gly313=) c.1449A= (p.Gly483=) c.1110A= (p.Gly370=) c.1458A= (p.Gly486=) c.1422A= (p.Gly474=) c.599A= c.150A= (p.Gly50=) c.1539A= (p.Gly513=) c.1512A= (p.Gly504=) c.1416A= (p.Gly472=) c.1023A= (p.Gly341=) c.1485A= (p.Gly495=) c.1419A= (p.Gly473=) c.450A= (p.Gly150=) | |
20 | g.63414178C>A | CA409645733 | KCNQ2 | c.1487G>T (p.Gly496Val) c.1541G>T (p.Gly514Val) c.938G>T (p.Gly313Val) c.1448G>T (p.Gly483Val) c.1109G>T (p.Gly370Val) c.1457G>T (p.Gly486Val) c.1421G>T (p.Gly474Val) c.598G>T c.149G>T (p.Gly50Val) c.1538G>T (p.Gly513Val) c.1511G>T (p.Gly504Val) c.1415G>T (p.Gly472Val) c.1022G>T (p.Gly341Val) c.1484G>T (p.Gly495Val) c.1418G>T (p.Gly473Val) c.449G>T (p.Gly150Val) | |
20 | g.63414178C= | CA2374778331 | KCNQ2 | c.1487G= (p.Gly496=) c.1541G= (p.Gly514=) c.938G= (p.Gly313=) c.1448G= (p.Gly483=) c.1109G= (p.Gly370=) c.1457G= (p.Gly486=) c.1421G= (p.Gly474=) c.598G= c.149G= (p.Gly50=) c.1538G= (p.Gly513=) c.1511G= (p.Gly504=) c.1415G= (p.Gly472=) c.1022G= (p.Gly341=) c.1484G= (p.Gly495=) c.1418G= (p.Gly473=) c.449G= (p.Gly150=) | |
20 | g.63414178C>G | CA409645734 | KCNQ2 | c.1487G>C (p.Gly496Ala) c.1541G>C (p.Gly514Ala) c.938G>C (p.Gly313Ala) c.1448G>C (p.Gly483Ala) c.1109G>C (p.Gly370Ala) c.1457G>C (p.Gly486Ala) c.1421G>C (p.Gly474Ala) c.598G>C c.149G>C (p.Gly50Ala) c.1538G>C (p.Gly513Ala) c.1511G>C (p.Gly504Ala) c.1415G>C (p.Gly472Ala) c.1022G>C (p.Gly341Ala) c.1484G>C (p.Gly495Ala) c.1418G>C (p.Gly473Ala) c.449G>C (p.Gly150Ala) | |
20 | g.63414178C>T | CA409645737 | KCNQ2 | c.1487G>A (p.Gly496Glu) c.1541G>A (p.Gly514Glu) c.938G>A (p.Gly313Glu) c.1448G>A (p.Gly483Glu) c.1109G>A (p.Gly370Glu) c.1457G>A (p.Gly486Glu) c.1421G>A (p.Gly474Glu) c.598G>A c.149G>A (p.Gly50Glu) c.1538G>A (p.Gly513Glu) c.1511G>A (p.Gly504Glu) c.1415G>A (p.Gly472Glu) c.1022G>A (p.Gly341Glu) c.1484G>A (p.Gly495Glu) c.1418G>A (p.Gly473Glu) c.449G>A (p.Gly150Glu) | ClinVar dbSNP gnomAD v4 |
20 | g.63414179C>A | CA409645740 | KCNQ2 | c.1486G>T (p.Gly496Ter) c.1540G>T (p.Gly514Ter) c.937G>T (p.Gly313Ter) c.1447G>T (p.Gly483Ter) c.1108G>T (p.Gly370Ter) c.1456G>T (p.Gly486Ter) c.1420G>T (p.Gly474Ter) c.597G>T c.148G>T (p.Gly50Ter) c.1537G>T (p.Gly513Ter) c.1510G>T (p.Gly504Ter) c.1414G>T (p.Gly472Ter) c.1021G>T (p.Gly341Ter) c.1483G>T (p.Gly495Ter) c.1417G>T (p.Gly473Ter) c.448G>T (p.Gly150Ter) | ClinVar dbSNP |
20 | g.63414179C= | CA2374778332 | KCNQ2 | c.1486G= (p.Gly496=) c.1540G= (p.Gly514=) c.937G= (p.Gly313=) c.1447G= (p.Gly483=) c.1108G= (p.Gly370=) c.1456G= (p.Gly486=) c.1420G= (p.Gly474=) c.597G= c.148G= (p.Gly50=) c.1537G= (p.Gly513=) c.1510G= (p.Gly504=) c.1414G= (p.Gly472=) c.1021G= (p.Gly341=) c.1483G= (p.Gly495=) c.1417G= (p.Gly473=) c.448G= (p.Gly150=) | |
20 | g.63414179C>G | CA409645742 | KCNQ2 | c.1486G>C (p.Gly496Arg) c.1540G>C (p.Gly514Arg) c.937G>C (p.Gly313Arg) c.1447G>C (p.Gly483Arg) c.1108G>C (p.Gly370Arg) c.1456G>C (p.Gly486Arg) c.1420G>C (p.Gly474Arg) c.597G>C c.148G>C (p.Gly50Arg) c.1537G>C (p.Gly513Arg) c.1510G>C (p.Gly504Arg) c.1414G>C (p.Gly472Arg) c.1021G>C (p.Gly341Arg) c.1483G>C (p.Gly495Arg) c.1417G>C (p.Gly473Arg) c.448G>C (p.Gly150Arg) | |
20 | g.63414179C>T | CA315564 | KCNQ2 | c.1486G>A (p.Gly496Arg) c.1540G>A (p.Gly514Arg) c.937G>A (p.Gly313Arg) c.1447G>A (p.Gly483Arg) c.1108G>A (p.Gly370Arg) c.1456G>A (p.Gly486Arg) c.1420G>A (p.Gly474Arg) c.597G>A c.148G>A (p.Gly50Arg) c.1537G>A (p.Gly513Arg) c.1510G>A (p.Gly504Arg) c.1414G>A (p.Gly472Arg) c.1021G>A (p.Gly341Arg) c.1483G>A (p.Gly495Arg) c.1417G>A (p.Gly473Arg) c.448G>A (p.Gly150Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63414179_63414180delinsCG | CA2374778333 | KCNQ2 | c.1485_1486delinsCG (p.Pro495=) c.1539_1540delinsCG (p.Pro513=) c.936_937delinsCG (p.Pro312=) c.1446_1447delinsCG (p.Pro482=) c.1107_1108delinsCG (p.Pro369=) c.1455_1456delinsCG (p.Pro485=) c.1419_1420delinsCG (p.Pro473=) c.596_597delinsCG c.147_148delinsCG (p.Pro49=) c.1536_1537delinsCG (p.Pro512=) c.1509_1510delinsCG (p.Pro503=) c.1413_1414delinsCG (p.Pro471=) c.1020_1021delinsCG (p.Pro340=) c.1482_1483delinsCG (p.Pro494=) c.1416_1417delinsCG (p.Pro472=) c.447_448delinsCG (p.Pro149=) | |
20 | g.63414180G>A | CA9958411 | KCNQ2 | c.1485C>T (p.Pro495=) c.1539C>T (p.Pro513=) c.936C>T (p.Pro312=) c.1446C>T (p.Pro482=) c.1107C>T (p.Pro369=) c.1455C>T (p.Pro485=) c.1419C>T (p.Pro473=) c.596C>T c.147C>T (p.Pro49=) c.1536C>T (p.Pro512=) c.1509C>T (p.Pro503=) c.1413C>T (p.Pro471=) c.1020C>T (p.Pro340=) c.1482C>T (p.Pro494=) c.1416C>T (p.Pro472=) c.447C>T (p.Pro149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.63414180G>C | CA511203945 | KCNQ2 | c.1485C>G (p.Pro495=) c.1539C>G (p.Pro513=) c.936C>G (p.Pro312=) c.1446C>G (p.Pro482=) c.1107C>G (p.Pro369=) c.1455C>G (p.Pro485=) c.1419C>G (p.Pro473=) c.596C>G c.147C>G (p.Pro49=) c.1536C>G (p.Pro512=) c.1509C>G (p.Pro503=) c.1413C>G (p.Pro471=) c.1020C>G (p.Pro340=) c.1482C>G (p.Pro494=) c.1416C>G (p.Pro472=) c.447C>G (p.Pro149=) | |
20 | g.63414180G= | CA2374778334 | KCNQ2 | c.1485C= (p.Pro495=) c.1539C= (p.Pro513=) c.936C= (p.Pro312=) c.1446C= (p.Pro482=) c.1107C= (p.Pro369=) c.1455C= (p.Pro485=) c.1419C= (p.Pro473=) c.596C= c.147C= (p.Pro49=) c.1536C= (p.Pro512=) c.1509C= (p.Pro503=) c.1413C= (p.Pro471=) c.1020C= (p.Pro340=) c.1482C= (p.Pro494=) c.1416C= (p.Pro472=) c.447C= (p.Pro149=) | |
20 | g.63414180G>T | CA511203946 | KCNQ2 | c.1485C>A (p.Pro495=) c.1539C>A (p.Pro513=) c.936C>A (p.Pro312=) c.1446C>A (p.Pro482=) c.1107C>A (p.Pro369=) c.1455C>A (p.Pro485=) c.1419C>A (p.Pro473=) c.596C>A c.147C>A (p.Pro49=) c.1536C>A (p.Pro512=) c.1509C>A (p.Pro503=) c.1413C>A (p.Pro471=) c.1020C>A (p.Pro340=) c.1482C>A (p.Pro494=) c.1416C>A (p.Pro472=) c.447C>A (p.Pro149=) | |
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 |