| 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 |