| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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>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.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 dbSNP |
| 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=) | dbSNP |