| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63413582C>A | CA342473 | KCNQ2 | c.1548-1G>T (p.=) c.1578-1G>T (p.=) c.1632-1G>T (p.=) c.1539-1G>T (p.=) c.1629-1G>T (p.=) c.1602-1G>T (p.=) c.1506-1G>T (p.=) c.1113-1G>T (p.=) c.1548-1G>T c.1578-1G>T c.1632-1G>T c.1539-1G>T c.1575-1G>T (p.=) c.1509-1G>T (p.=) c.540-1G>T (p.=) n.1200-1G>T (p.=) c.1512-1G>T (p.=) n.240-1G>T (p.=) | ClinVar dbSNP |
| 20 | g.63413582C>T | CA315455 | KCNQ2 | c.1548-1G>A (p.=) c.1578-1G>A (p.=) c.1632-1G>A (p.=) c.1539-1G>A (p.=) c.1629-1G>A (p.=) c.1602-1G>A (p.=) c.1506-1G>A (p.=) c.1113-1G>A (p.=) c.1548-1G>A c.1578-1G>A c.1632-1G>A c.1539-1G>A c.1575-1G>A (p.=) c.1509-1G>A (p.=) c.540-1G>A (p.=) n.1200-1G>A (p.=) c.1512-1G>A (p.=) n.240-1G>A (p.=) | ClinVar dbSNP |