WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63413472G>A | CA315486 | KCNQ2 | c.1687C>T (p.Arg563Ter) c.1741C>T (p.Arg581Ter) c.1138C>T (p.Arg380Ter) c.1648C>T (p.Arg550Ter) c.1309C>T (p.Arg437Ter) c.1657C>T (p.Arg553Ter) c.1621C>T (p.Arg541Ter) c.349C>T (p.Arg117Ter) c.1738C>T (p.Arg580Ter) c.1711C>T (p.Arg571Ter) c.1615C>T (p.Arg539Ter) c.1222C>T (p.Arg408Ter) c.1684C>T (p.Arg562Ter) c.1618C>T (p.Arg540Ter) c.649C>T (p.Arg217Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63413472G>C | CA10588704 | KCNQ2 | c.1687C>G (p.Arg563Gly) c.1741C>G (p.Arg581Gly) c.1138C>G (p.Arg380Gly) c.1648C>G (p.Arg550Gly) c.1309C>G (p.Arg437Gly) c.1657C>G (p.Arg553Gly) c.1621C>G (p.Arg541Gly) c.349C>G (p.Arg117Gly) c.1738C>G (p.Arg580Gly) c.1711C>G (p.Arg571Gly) c.1615C>G (p.Arg539Gly) c.1222C>G (p.Arg408Gly) c.1684C>G (p.Arg562Gly) c.1618C>G (p.Arg540Gly) c.649C>G (p.Arg217Gly) | ClinVar dbSNP |
| 20 | g.63413472G= | CA2374777950 | KCNQ2 | c.1687C= (p.Arg563=) c.1741C= (p.Arg581=) c.1138C= (p.Arg380=) c.1648C= (p.Arg550=) c.1309C= (p.Arg437=) c.1657C= (p.Arg553=) c.1621C= (p.Arg541=) c.349C= (p.Arg117=) c.1738C= (p.Arg580=) c.1711C= (p.Arg571=) c.1615C= (p.Arg539=) c.1222C= (p.Arg408=) c.1684C= (p.Arg562=) c.1618C= (p.Arg540=) c.649C= (p.Arg217=) | |
| 20 | g.63413472G>T | CA511339995 | KCNQ2 | c.1687C>A (p.Arg563=) c.1741C>A (p.Arg581=) c.1138C>A (p.Arg380=) c.1648C>A (p.Arg550=) c.1309C>A (p.Arg437=) c.1657C>A (p.Arg553=) c.1621C>A (p.Arg541=) c.349C>A (p.Arg117=) c.1738C>A (p.Arg580=) c.1711C>A (p.Arg571=) c.1615C>A (p.Arg539=) c.1222C>A (p.Arg408=) c.1684C>A (p.Arg562=) c.1618C>A (p.Arg540=) c.649C>A (p.Arg217=) | |
| 20 | g.63413473G>A | CA511339998 | KCNQ2 | c.1686C>T (p.Ser562=) c.1740C>T (p.Ser580=) c.1137C>T (p.Ser379=) c.1647C>T (p.Ser549=) c.1308C>T (p.Ser436=) c.1656C>T (p.Ser552=) c.1620C>T (p.Ser540=) c.348C>T (p.Ser116=) c.1737C>T (p.Ser579=) c.1710C>T (p.Ser570=) c.1614C>T (p.Ser538=) c.1221C>T (p.Ser407=) c.1683C>T (p.Ser561=) c.1617C>T (p.Ser539=) c.648C>T (p.Ser216=) | |
| 20 | g.63413473G>C | CA511339996 | KCNQ2 | c.1686C>G (p.Ser562=) c.1740C>G (p.Ser580=) c.1137C>G (p.Ser379=) c.1647C>G (p.Ser549=) c.1308C>G (p.Ser436=) c.1656C>G (p.Ser552=) c.1620C>G (p.Ser540=) c.348C>G (p.Ser116=) c.1737C>G (p.Ser579=) c.1710C>G (p.Ser570=) c.1614C>G (p.Ser538=) c.1221C>G (p.Ser407=) c.1683C>G (p.Ser561=) c.1617C>G (p.Ser539=) c.648C>G (p.Ser216=) | |
| 20 | g.63413473G>T | CA511339997 | KCNQ2 | c.1686C>A (p.Ser562=) c.1740C>A (p.Ser580=) c.1137C>A (p.Ser379=) c.1647C>A (p.Ser549=) c.1308C>A (p.Ser436=) c.1656C>A (p.Ser552=) c.1620C>A (p.Ser540=) c.348C>A (p.Ser116=) c.1737C>A (p.Ser579=) c.1710C>A (p.Ser570=) c.1614C>A (p.Ser538=) c.1221C>A (p.Ser407=) c.1683C>A (p.Ser561=) c.1617C>A (p.Ser539=) c.648C>A (p.Ser216=) | |
| 20 | g.63413474G>A | CA409643409 | KCNQ2 | c.1685C>T (p.Ser562Phe) c.1739C>T (p.Ser580Phe) c.1136C>T (p.Ser379Phe) c.1646C>T (p.Ser549Phe) c.1307C>T (p.Ser436Phe) c.1655C>T (p.Ser552Phe) c.1619C>T (p.Ser540Phe) c.347C>T (p.Ser116Phe) c.1736C>T (p.Ser579Phe) c.1709C>T (p.Ser570Phe) c.1613C>T (p.Ser538Phe) c.1220C>T (p.Ser407Phe) c.1682C>T (p.Ser561Phe) c.1616C>T (p.Ser539Phe) c.647C>T (p.Ser216Phe) | |
| 20 | g.63413474G>C | CA409643413 | KCNQ2 | c.1685C>G (p.Ser562Cys) c.1739C>G (p.Ser580Cys) c.1136C>G (p.Ser379Cys) c.1646C>G (p.Ser549Cys) c.1307C>G (p.Ser436Cys) c.1655C>G (p.Ser552Cys) c.1619C>G (p.Ser540Cys) c.347C>G (p.Ser116Cys) c.1736C>G (p.Ser579Cys) c.1709C>G (p.Ser570Cys) c.1613C>G (p.Ser538Cys) c.1220C>G (p.Ser407Cys) c.1682C>G (p.Ser561Cys) c.1616C>G (p.Ser539Cys) c.647C>G (p.Ser216Cys) | |
| 20 | g.63413474G>T | CA409643423 | KCNQ2 | c.1685C>A (p.Ser562Tyr) c.1739C>A (p.Ser580Tyr) c.1136C>A (p.Ser379Tyr) c.1646C>A (p.Ser549Tyr) c.1307C>A (p.Ser436Tyr) c.1655C>A (p.Ser552Tyr) c.1619C>A (p.Ser540Tyr) c.347C>A (p.Ser116Tyr) c.1736C>A (p.Ser579Tyr) c.1709C>A (p.Ser570Tyr) c.1613C>A (p.Ser538Tyr) c.1220C>A (p.Ser407Tyr) c.1682C>A (p.Ser561Tyr) c.1616C>A (p.Ser539Tyr) c.647C>A (p.Ser216Tyr) | |
| 20 | g.63413475A>C | CA409643433 | KCNQ2 | c.1684T>G (p.Ser562Ala) c.1738T>G (p.Ser580Ala) c.1135T>G (p.Ser379Ala) c.1645T>G (p.Ser549Ala) c.1306T>G (p.Ser436Ala) c.1654T>G (p.Ser552Ala) c.1618T>G (p.Ser540Ala) c.346T>G (p.Ser116Ala) c.1735T>G (p.Ser579Ala) c.1708T>G (p.Ser570Ala) c.1612T>G (p.Ser538Ala) c.1219T>G (p.Ser407Ala) c.1681T>G (p.Ser561Ala) c.1615T>G (p.Ser539Ala) c.646T>G (p.Ser216Ala) | |
| 20 | g.63413475A>G | CA409643429 | KCNQ2 | c.1684T>C (p.Ser562Pro) c.1738T>C (p.Ser580Pro) c.1135T>C (p.Ser379Pro) c.1645T>C (p.Ser549Pro) c.1306T>C (p.Ser436Pro) c.1654T>C (p.Ser552Pro) c.1618T>C (p.Ser540Pro) c.346T>C (p.Ser116Pro) c.1735T>C (p.Ser579Pro) c.1708T>C (p.Ser570Pro) c.1612T>C (p.Ser538Pro) c.1219T>C (p.Ser407Pro) c.1681T>C (p.Ser561Pro) c.1615T>C (p.Ser539Pro) c.646T>C (p.Ser216Pro) | |
| 20 | g.63413475A>T | CA409643430 | KCNQ2 | c.1684T>A (p.Ser562Thr) c.1738T>A (p.Ser580Thr) c.1135T>A (p.Ser379Thr) c.1645T>A (p.Ser549Thr) c.1306T>A (p.Ser436Thr) c.1654T>A (p.Ser552Thr) c.1618T>A (p.Ser540Thr) c.346T>A (p.Ser116Thr) c.1735T>A (p.Ser579Thr) c.1708T>A (p.Ser570Thr) c.1612T>A (p.Ser538Thr) c.1219T>A (p.Ser407Thr) c.1681T>A (p.Ser561Thr) c.1615T>A (p.Ser539Thr) c.646T>A (p.Ser216Thr) | gnomAD v4 |
| 20 | g.63413476C>A | CA511340001 | KCNQ2 | c.1683G>T (p.Leu561=) c.1737G>T (p.Leu579=) c.1134G>T (p.Leu378=) c.1644G>T (p.Leu548=) c.1305G>T (p.Leu435=) c.1653G>T (p.Leu551=) c.1617G>T (p.Leu539=) c.345G>T (p.Leu115=) c.1734G>T (p.Leu578=) c.1707G>T (p.Leu569=) c.1611G>T (p.Leu537=) c.1218G>T (p.Leu406=) c.1680G>T (p.Leu560=) c.1614G>T (p.Leu538=) c.645G>T (p.Leu215=) | |
| 20 | g.63413476C>G | CA511340002 | KCNQ2 | c.1683G>C (p.Leu561=) c.1737G>C (p.Leu579=) c.1134G>C (p.Leu378=) c.1644G>C (p.Leu548=) c.1305G>C (p.Leu435=) c.1653G>C (p.Leu551=) c.1617G>C (p.Leu539=) c.345G>C (p.Leu115=) c.1734G>C (p.Leu578=) c.1707G>C (p.Leu569=) c.1611G>C (p.Leu537=) c.1218G>C (p.Leu406=) c.1680G>C (p.Leu560=) c.1614G>C (p.Leu538=) c.645G>C (p.Leu215=) | |
| 20 | g.63413476C>T | CA511340004 | KCNQ2 | c.1683G>A (p.Leu561=) c.1737G>A (p.Leu579=) c.1134G>A (p.Leu378=) c.1644G>A (p.Leu548=) c.1305G>A (p.Leu435=) c.1653G>A (p.Leu551=) c.1617G>A (p.Leu539=) c.345G>A (p.Leu115=) c.1734G>A (p.Leu578=) c.1707G>A (p.Leu569=) c.1611G>A (p.Leu537=) c.1218G>A (p.Leu406=) c.1680G>A (p.Leu560=) c.1614G>A (p.Leu538=) c.645G>A (p.Leu215=) | |
| 20 | g.63413477A>C | CA409643435 | KCNQ2 | c.1682T>G (p.Leu561Arg) c.1736T>G (p.Leu579Arg) c.1133T>G (p.Leu378Arg) c.1643T>G (p.Leu548Arg) c.1304T>G (p.Leu435Arg) c.1652T>G (p.Leu551Arg) c.1616T>G (p.Leu539Arg) c.344T>G (p.Leu115Arg) c.1733T>G (p.Leu578Arg) c.1706T>G (p.Leu569Arg) c.1610T>G (p.Leu537Arg) c.1217T>G (p.Leu406Arg) c.1679T>G (p.Leu560Arg) c.1613T>G (p.Leu538Arg) c.644T>G (p.Leu215Arg) | |
| 20 | g.63413477A>G | CA409643437 | KCNQ2 | c.1682T>C (p.Leu561Pro) c.1736T>C (p.Leu579Pro) c.1133T>C (p.Leu378Pro) c.1643T>C (p.Leu548Pro) c.1304T>C (p.Leu435Pro) c.1652T>C (p.Leu551Pro) c.1616T>C (p.Leu539Pro) c.344T>C (p.Leu115Pro) c.1733T>C (p.Leu578Pro) c.1706T>C (p.Leu569Pro) c.1610T>C (p.Leu537Pro) c.1217T>C (p.Leu406Pro) c.1679T>C (p.Leu560Pro) c.1613T>C (p.Leu538Pro) c.644T>C (p.Leu215Pro) | |
| 20 | g.63413477A>T | CA409643439 | KCNQ2 | c.1682T>A (p.Leu561Gln) c.1736T>A (p.Leu579Gln) c.1133T>A (p.Leu378Gln) c.1643T>A (p.Leu548Gln) c.1304T>A (p.Leu435Gln) c.1652T>A (p.Leu551Gln) c.1616T>A (p.Leu539Gln) c.344T>A (p.Leu115Gln) c.1733T>A (p.Leu578Gln) c.1706T>A (p.Leu569Gln) c.1610T>A (p.Leu537Gln) c.1217T>A (p.Leu406Gln) c.1679T>A (p.Leu560Gln) c.1613T>A (p.Leu538Gln) c.644T>A (p.Leu215Gln) | COSMIC COSMIC COSMIC |
| 20 | g.63413478G>A | CA511340006 | KCNQ2 | c.1681C>T (p.Leu561=) c.1735C>T (p.Leu579=) c.1132C>T (p.Leu378=) c.1642C>T (p.Leu548=) c.1303C>T (p.Leu435=) c.1651C>T (p.Leu551=) c.1615C>T (p.Leu539=) c.343C>T (p.Leu115=) c.1732C>T (p.Leu578=) c.1705C>T (p.Leu569=) c.1609C>T (p.Leu537=) c.1216C>T (p.Leu406=) c.1678C>T (p.Leu560=) c.1612C>T (p.Leu538=) c.643C>T (p.Leu215=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63413478G>C | CA409643441 | KCNQ2 | c.1681C>G (p.Leu561Val) c.1735C>G (p.Leu579Val) c.1132C>G (p.Leu378Val) c.1642C>G (p.Leu548Val) c.1303C>G (p.Leu435Val) c.1651C>G (p.Leu551Val) c.1615C>G (p.Leu539Val) c.343C>G (p.Leu115Val) c.1732C>G (p.Leu578Val) c.1705C>G (p.Leu569Val) c.1609C>G (p.Leu537Val) c.1216C>G (p.Leu406Val) c.1678C>G (p.Leu560Val) c.1612C>G (p.Leu538Val) c.643C>G (p.Leu215Val) | ClinVar |
| 20 | g.63413478G= | CA2374777952 | KCNQ2 | c.1681C= (p.Leu561=) c.1735C= (p.Leu579=) c.1132C= (p.Leu378=) c.1642C= (p.Leu548=) c.1303C= (p.Leu435=) c.1651C= (p.Leu551=) c.1615C= (p.Leu539=) c.343C= (p.Leu115=) c.1732C= (p.Leu578=) c.1705C= (p.Leu569=) c.1609C= (p.Leu537=) c.1216C= (p.Leu406=) c.1678C= (p.Leu560=) c.1612C= (p.Leu538=) c.643C= (p.Leu215=) | |
| 20 | g.63413478G>T | CA16609839 | KCNQ2 | c.1681C>A (p.Leu561Met) c.1735C>A (p.Leu579Met) c.1132C>A (p.Leu378Met) c.1642C>A (p.Leu548Met) c.1303C>A (p.Leu435Met) c.1651C>A (p.Leu551Met) c.1615C>A (p.Leu539Met) c.343C>A (p.Leu115Met) c.1732C>A (p.Leu578Met) c.1705C>A (p.Leu569Met) c.1609C>A (p.Leu537Met) c.1216C>A (p.Leu406Met) c.1678C>A (p.Leu560Met) c.1612C>A (p.Leu538Met) c.643C>A (p.Leu215Met) | dbSNP |
| 20 | g.63413478_63413479delinsGC | CA2374777951 | KCNQ2 | c.1680_1681delinsGC (p.Met560=) c.1734_1735delinsGC (p.Met578=) c.1131_1132delinsGC (p.Met377=) c.1641_1642delinsGC (p.Met547=) c.1302_1303delinsGC (p.Met434=) c.1650_1651delinsGC (p.Met550=) c.1614_1615delinsGC (p.Met538=) c.342_343delinsGC (p.Met114=) c.1731_1732delinsGC (p.Met577=) c.1704_1705delinsGC (p.Met568=) c.1608_1609delinsGC (p.Met536=) c.1215_1216delinsGC (p.Met405=) c.1677_1678delinsGC (p.Met559=) c.1611_1612delinsGC (p.Met537=) c.642_643delinsGC (p.Met214=) | |
| 20 | g.63413478_63413479delinsTT | CA315548 | KCNQ2 | c.1680_1681delinsAA (p.Met560_Leu561delinsIleMet) c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet) c.1131_1132delinsAA (p.Met377_Leu378delinsIleMet) c.1641_1642delinsAA (p.Met547_Leu548delinsIleMet) c.1302_1303delinsAA (p.Met434_Leu435delinsIleMet) c.1650_1651delinsAA (p.Met550_Leu551delinsIleMet) c.1614_1615delinsAA (p.Met538_Leu539delinsIleMet) c.342_343delinsAA (p.Met114_Leu115delinsIleMet) c.1731_1732delinsAA (p.Met577_Leu578delinsIleMet) c.1704_1705delinsAA (p.Met568_Leu569delinsIleMet) c.1608_1609delinsAA (p.Met536_Leu537delinsIleMet) c.1215_1216delinsAA (p.Met405_Leu406delinsIleMet) c.1677_1678delinsAA (p.Met559_Leu560delinsIleMet) c.1611_1612delinsAA (p.Met537_Leu538delinsIleMet) c.642_643delinsAA (p.Met214_Leu215delinsIleMet) | ClinVar dbSNP |
| 20 | g.63413479C>A | CA409643447 | KCNQ2 | c.1680G>T (p.Met560Ile) c.1734G>T (p.Met578Ile) c.1131G>T (p.Met377Ile) c.1641G>T (p.Met547Ile) c.1302G>T (p.Met434Ile) c.1650G>T (p.Met550Ile) c.1614G>T (p.Met538Ile) c.342G>T (p.Met114Ile) c.1731G>T (p.Met577Ile) c.1704G>T (p.Met568Ile) c.1608G>T (p.Met536Ile) c.1215G>T (p.Met405Ile) c.1677G>T (p.Met559Ile) c.1611G>T (p.Met537Ile) c.642G>T (p.Met214Ile) | |
| 20 | g.63413479C= | CA2374777953 | KCNQ2 | c.1680G= (p.Met560=) c.1734G= (p.Met578=) c.1131G= (p.Met377=) c.1641G= (p.Met547=) c.1302G= (p.Met434=) c.1650G= (p.Met550=) c.1614G= (p.Met538=) c.342G= (p.Met114=) c.1731G= (p.Met577=) c.1704G= (p.Met568=) c.1608G= (p.Met536=) c.1215G= (p.Met405=) c.1677G= (p.Met559=) c.1611G= (p.Met537=) c.642G= (p.Met214=) | |
| 20 | g.63413479C>G | CA315483 | KCNQ2 | c.1680G>C (p.Met560Ile) c.1734G>C (p.Met578Ile) c.1131G>C (p.Met377Ile) c.1641G>C (p.Met547Ile) c.1302G>C (p.Met434Ile) c.1650G>C (p.Met550Ile) c.1614G>C (p.Met538Ile) c.342G>C (p.Met114Ile) c.1731G>C (p.Met577Ile) c.1704G>C (p.Met568Ile) c.1608G>C (p.Met536Ile) c.1215G>C (p.Met405Ile) c.1677G>C (p.Met559Ile) c.1611G>C (p.Met537Ile) c.642G>C (p.Met214Ile) | ClinVar dbSNP |
| 20 | g.63413479C>T | CA16609838 | KCNQ2 | c.1680G>A (p.Met560Ile) c.1734G>A (p.Met578Ile) c.1131G>A (p.Met377Ile) c.1641G>A (p.Met547Ile) c.1302G>A (p.Met434Ile) c.1650G>A (p.Met550Ile) c.1614G>A (p.Met538Ile) c.342G>A (p.Met114Ile) c.1731G>A (p.Met577Ile) c.1704G>A (p.Met568Ile) c.1608G>A (p.Met536Ile) c.1215G>A (p.Met405Ile) c.1677G>A (p.Met559Ile) c.1611G>A (p.Met537Ile) c.642G>A (p.Met214Ile) | ClinVar dbSNP |
| 20 | g.63413481_63413486dup | CA915952964 | KCNQ2 | c.1675_1680dup (p.Met560_Leu561insAspMet) c.1729_1734dup (p.Met578_Leu579insAspMet) c.1126_1131dup (p.Met377_Leu378insAspMet) c.1636_1641dup (p.Met547_Leu548insAspMet) c.1297_1302dup (p.Met434_Leu435insAspMet) c.1645_1650dup (p.Met550_Leu551insAspMet) c.1609_1614dup (p.Met538_Leu539insAspMet) c.337_342dup (p.Met114_Leu115insAspMet) c.1726_1731dup (p.Met577_Leu578insAspMet) c.1699_1704dup (p.Met568_Leu569insAspMet) c.1603_1608dup (p.Met536_Leu537insAspMet) c.1210_1215dup (p.Met405_Leu406insAspMet) c.1672_1677dup (p.Met559_Leu560insAspMet) c.1606_1611dup (p.Met537_Leu538insAspMet) c.637_642dup (p.Met214_Leu215insAspMet) | ClinVar dbSNP |
| 20 | g.63413480A= | CA2374777954 | KCNQ2 | c.1679T= (p.Met560=) c.1733T= (p.Met578=) c.1130T= (p.Met377=) c.1640T= (p.Met547=) c.1301T= (p.Met434=) c.1649T= (p.Met550=) c.1613T= (p.Met538=) c.341T= (p.Met114=) c.1730T= (p.Met577=) c.1703T= (p.Met568=) c.1607T= (p.Met536=) c.1214T= (p.Met405=) c.1676T= (p.Met559=) c.1610T= (p.Met537=) c.641T= (p.Met214=) | |
| 20 | g.63413480A>C | CA409643452 | KCNQ2 | c.1679T>G (p.Met560Arg) c.1733T>G (p.Met578Arg) c.1130T>G (p.Met377Arg) c.1640T>G (p.Met547Arg) c.1301T>G (p.Met434Arg) c.1649T>G (p.Met550Arg) c.1613T>G (p.Met538Arg) c.341T>G (p.Met114Arg) c.1730T>G (p.Met577Arg) c.1703T>G (p.Met568Arg) c.1607T>G (p.Met536Arg) c.1214T>G (p.Met405Arg) c.1676T>G (p.Met559Arg) c.1610T>G (p.Met537Arg) c.641T>G (p.Met214Arg) | |
| 20 | g.63413480A>G | CA409643455 | KCNQ2 | c.1679T>C (p.Met560Thr) c.1733T>C (p.Met578Thr) c.1130T>C (p.Met377Thr) c.1640T>C (p.Met547Thr) c.1301T>C (p.Met434Thr) c.1649T>C (p.Met550Thr) c.1613T>C (p.Met538Thr) c.341T>C (p.Met114Thr) c.1730T>C (p.Met577Thr) c.1703T>C (p.Met568Thr) c.1607T>C (p.Met536Thr) c.1214T>C (p.Met405Thr) c.1676T>C (p.Met559Thr) c.1610T>C (p.Met537Thr) c.641T>C (p.Met214Thr) | ClinVar dbSNP |
| 20 | g.63413480A>T | CA409643456 | KCNQ2 | c.1679T>A (p.Met560Lys) c.1733T>A (p.Met578Lys) c.1130T>A (p.Met377Lys) c.1640T>A (p.Met547Lys) c.1301T>A (p.Met434Lys) c.1649T>A (p.Met550Lys) c.1613T>A (p.Met538Lys) c.341T>A (p.Met114Lys) c.1730T>A (p.Met577Lys) c.1703T>A (p.Met568Lys) c.1607T>A (p.Met536Lys) c.1214T>A (p.Met405Lys) c.1676T>A (p.Met559Lys) c.1610T>A (p.Met537Lys) c.641T>A (p.Met214Lys) | |
| 20 | g.63413481T>A | CA409643457 | KCNQ2 | c.1678A>T (p.Met560Leu) c.1732A>T (p.Met578Leu) c.1129A>T (p.Met377Leu) c.1639A>T (p.Met547Leu) c.1300A>T (p.Met434Leu) c.1648A>T (p.Met550Leu) c.1612A>T (p.Met538Leu) c.340A>T (p.Met114Leu) c.1729A>T (p.Met577Leu) c.1702A>T (p.Met568Leu) c.1606A>T (p.Met536Leu) c.1213A>T (p.Met405Leu) c.1675A>T (p.Met559Leu) c.1609A>T (p.Met537Leu) c.640A>T (p.Met214Leu) | |
| 20 | g.63413481T>C | CA10654781 | KCNQ2 | c.1678A>G (p.Met560Val) c.1732A>G (p.Met578Val) c.1129A>G (p.Met377Val) c.1639A>G (p.Met547Val) c.1300A>G (p.Met434Val) c.1648A>G (p.Met550Val) c.1612A>G (p.Met538Val) c.340A>G (p.Met114Val) c.1729A>G (p.Met577Val) c.1702A>G (p.Met568Val) c.1606A>G (p.Met536Val) c.1213A>G (p.Met405Val) c.1675A>G (p.Met559Val) c.1609A>G (p.Met537Val) c.640A>G (p.Met214Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63413481T>G | CA409643458 | KCNQ2 | c.1678A>C (p.Met560Leu) c.1732A>C (p.Met578Leu) c.1129A>C (p.Met377Leu) c.1639A>C (p.Met547Leu) c.1300A>C (p.Met434Leu) c.1648A>C (p.Met550Leu) c.1612A>C (p.Met538Leu) c.340A>C (p.Met114Leu) c.1729A>C (p.Met577Leu) c.1702A>C (p.Met568Leu) c.1606A>C (p.Met536Leu) c.1213A>C (p.Met405Leu) c.1675A>C (p.Met559Leu) c.1609A>C (p.Met537Leu) c.640A>C (p.Met214Leu) | ClinVar dbSNP |
| 20 | g.63413481T= | CA2374777955 | KCNQ2 | c.1678A= (p.Met560=) c.1732A= (p.Met578=) c.1129A= (p.Met377=) c.1639A= (p.Met547=) c.1300A= (p.Met434=) c.1648A= (p.Met550=) c.1612A= (p.Met538=) c.340A= (p.Met114=) c.1729A= (p.Met577=) c.1702A= (p.Met568=) c.1606A= (p.Met536=) c.1213A= (p.Met405=) c.1675A= (p.Met559=) c.1609A= (p.Met537=) c.640A= (p.Met214=) | |
| 20 | g.63413482G>A | CA511340013 | KCNQ2 | c.1677C>T (p.Asp559=) c.1731C>T (p.Asp577=) c.1128C>T (p.Asp376=) c.1638C>T (p.Asp546=) c.1299C>T (p.Asp433=) c.1647C>T (p.Asp549=) c.1611C>T (p.Asp537=) c.339C>T (p.Asp113=) c.1728C>T (p.Asp576=) c.1701C>T (p.Asp567=) c.1605C>T (p.Asp535=) c.1212C>T (p.Asp404=) c.1674C>T (p.Asp558=) c.1608C>T (p.Asp536=) c.639C>T (p.Asp213=) | gnomAD v4 |
| 20 | g.63413482G>C | CA409643464 | KCNQ2 | c.1677C>G (p.Asp559Glu) c.1731C>G (p.Asp577Glu) c.1128C>G (p.Asp376Glu) c.1638C>G (p.Asp546Glu) c.1299C>G (p.Asp433Glu) c.1647C>G (p.Asp549Glu) c.1611C>G (p.Asp537Glu) c.339C>G (p.Asp113Glu) c.1728C>G (p.Asp576Glu) c.1701C>G (p.Asp567Glu) c.1605C>G (p.Asp535Glu) c.1212C>G (p.Asp404Glu) c.1674C>G (p.Asp558Glu) c.1608C>G (p.Asp536Glu) c.639C>G (p.Asp213Glu) | |
| 20 | g.63413482G>T | CA409643468 | KCNQ2 | c.1677C>A (p.Asp559Glu) c.1731C>A (p.Asp577Glu) c.1128C>A (p.Asp376Glu) c.1638C>A (p.Asp546Glu) c.1299C>A (p.Asp433Glu) c.1647C>A (p.Asp549Glu) c.1611C>A (p.Asp537Glu) c.339C>A (p.Asp113Glu) c.1728C>A (p.Asp576Glu) c.1701C>A (p.Asp567Glu) c.1605C>A (p.Asp535Glu) c.1212C>A (p.Asp404Glu) c.1674C>A (p.Asp558Glu) c.1608C>A (p.Asp536Glu) c.639C>A (p.Asp213Glu) | |
| 20 | g.63413483_63413487dup | CA2739277252 | KCNQ2 | c.1673_1677dup (p.Met560TrpfsTer14) c.1727_1731dup (p.Met578TrpfsTer?) c.1124_1128dup (p.Met377TrpfsTer?) c.1634_1638dup (p.Met547TrpfsTer?) c.1295_1299dup (p.Met434TrpfsTer?) c.1643_1647dup (p.Met550TrpfsTer?) c.1643_1647dup (p.Met550TrpfsTer14) c.1607_1611dup (p.Met538TrpfsTer14) c.1673_1677dup (p.Met560TrpfsTer?) c.335_339dup (p.Met114TrpfsTer?) c.1727_1731dup (p.Met578TrpfsTer14) c.1724_1728dup (p.Met577TrpfsTer14) c.1697_1701dup (p.Met568TrpfsTer14) c.1724_1728dup (p.Met577TrpfsTer?) c.1601_1605dup (p.Met536TrpfsTer14) c.1208_1212dup (p.Met405TrpfsTer14) c.1670_1674dup (p.Met559TrpfsTer14) c.1604_1608dup (p.Met537TrpfsTer14) c.1670_1674dup (p.Met559TrpfsTer?) c.635_639dup (p.Met214TrpfsTer14) | ClinVar |
| 20 | g.63413483T>A | CA409643471 | KCNQ2 | c.1676A>T (p.Asp559Val) c.1730A>T (p.Asp577Val) c.1127A>T (p.Asp376Val) c.1637A>T (p.Asp546Val) c.1298A>T (p.Asp433Val) c.1646A>T (p.Asp549Val) c.1610A>T (p.Asp537Val) c.338A>T (p.Asp113Val) c.1727A>T (p.Asp576Val) c.1700A>T (p.Asp567Val) c.1604A>T (p.Asp535Val) c.1211A>T (p.Asp404Val) c.1673A>T (p.Asp558Val) c.1607A>T (p.Asp536Val) c.638A>T (p.Asp213Val) | |
| 20 | g.63413483T>C | CA409643474 | KCNQ2 | c.1676A>G (p.Asp559Gly) c.1730A>G (p.Asp577Gly) c.1127A>G (p.Asp376Gly) c.1637A>G (p.Asp546Gly) c.1298A>G (p.Asp433Gly) c.1646A>G (p.Asp549Gly) c.1610A>G (p.Asp537Gly) c.338A>G (p.Asp113Gly) c.1727A>G (p.Asp576Gly) c.1700A>G (p.Asp567Gly) c.1604A>G (p.Asp535Gly) c.1211A>G (p.Asp404Gly) c.1673A>G (p.Asp558Gly) c.1607A>G (p.Asp536Gly) c.638A>G (p.Asp213Gly) | |
| 20 | g.63413483T>G | CA409643476 | KCNQ2 | c.1676A>C (p.Asp559Ala) c.1730A>C (p.Asp577Ala) c.1127A>C (p.Asp376Ala) c.1637A>C (p.Asp546Ala) c.1298A>C (p.Asp433Ala) c.1646A>C (p.Asp549Ala) c.1610A>C (p.Asp537Ala) c.338A>C (p.Asp113Ala) c.1727A>C (p.Asp576Ala) c.1700A>C (p.Asp567Ala) c.1604A>C (p.Asp535Ala) c.1211A>C (p.Asp404Ala) c.1673A>C (p.Asp558Ala) c.1607A>C (p.Asp536Ala) c.638A>C (p.Asp213Ala) | |
| 20 | g.63413484C>A | CA409643483 | KCNQ2 | c.1675G>T (p.Asp559Tyr) c.1729G>T (p.Asp577Tyr) c.1126G>T (p.Asp376Tyr) c.1636G>T (p.Asp546Tyr) c.1297G>T (p.Asp433Tyr) c.1645G>T (p.Asp549Tyr) c.1609G>T (p.Asp537Tyr) c.337G>T (p.Asp113Tyr) c.1726G>T (p.Asp576Tyr) c.1699G>T (p.Asp567Tyr) c.1603G>T (p.Asp535Tyr) c.1210G>T (p.Asp404Tyr) c.1672G>T (p.Asp558Tyr) c.1606G>T (p.Asp536Tyr) c.637G>T (p.Asp213Tyr) | |
| 20 | g.63413484C>G | CA409643487 | KCNQ2 | c.1675G>C (p.Asp559His) c.1729G>C (p.Asp577His) c.1126G>C (p.Asp376His) c.1636G>C (p.Asp546His) c.1297G>C (p.Asp433His) c.1645G>C (p.Asp549His) c.1609G>C (p.Asp537His) c.337G>C (p.Asp113His) c.1726G>C (p.Asp576His) c.1699G>C (p.Asp567His) c.1603G>C (p.Asp535His) c.1210G>C (p.Asp404His) c.1672G>C (p.Asp558His) c.1606G>C (p.Asp536His) c.637G>C (p.Asp213His) | |
| 20 | g.63413484C>T | CA409643488 | KCNQ2 | c.1675G>A (p.Asp559Asn) c.1729G>A (p.Asp577Asn) c.1126G>A (p.Asp376Asn) c.1636G>A (p.Asp546Asn) c.1297G>A (p.Asp433Asn) c.1645G>A (p.Asp549Asn) c.1609G>A (p.Asp537Asn) c.337G>A (p.Asp113Asn) c.1726G>A (p.Asp576Asn) c.1699G>A (p.Asp567Asn) c.1603G>A (p.Asp535Asn) c.1210G>A (p.Asp404Asn) c.1672G>A (p.Asp558Asn) c.1606G>A (p.Asp536Asn) c.637G>A (p.Asp213Asn) | |
| 20 | g.63413485C>A | CA511340017 | KCNQ2 | c.1674G>T (p.Leu558=) c.1728G>T (p.Leu576=) c.1125G>T (p.Leu375=) c.1635G>T (p.Leu545=) c.1296G>T (p.Leu432=) c.1644G>T (p.Leu548=) c.1608G>T (p.Leu536=) c.336G>T (p.Leu112=) c.1725G>T (p.Leu575=) c.1698G>T (p.Leu566=) c.1602G>T (p.Leu534=) c.1209G>T (p.Leu403=) c.1671G>T (p.Leu557=) c.1605G>T (p.Leu535=) c.636G>T (p.Leu212=) | |
| 20 | g.63413485C>G | CA511340015 | KCNQ2 | c.1674G>C (p.Leu558=) c.1728G>C (p.Leu576=) c.1125G>C (p.Leu375=) c.1635G>C (p.Leu545=) c.1296G>C (p.Leu432=) c.1644G>C (p.Leu548=) c.1608G>C (p.Leu536=) c.336G>C (p.Leu112=) c.1725G>C (p.Leu575=) c.1698G>C (p.Leu566=) c.1602G>C (p.Leu534=) c.1209G>C (p.Leu403=) c.1671G>C (p.Leu557=) c.1605G>C (p.Leu535=) c.636G>C (p.Leu212=) |