| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572984G>A | CA379131791 | KCNQ1 | c.658G>A (p.Val220Met) c.478-10451G>A (n.478-10451G>A) c.919G>A (p.Val307Met) c.538G>A (p.Val180Met) c.124-10451G>A (n.124-10451G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572984G>C | CA008654 | KCNQ1 | c.658G>C (p.Val220Leu) c.478-10451G>C (n.478-10451G>C) c.919G>C (p.Val307Leu) c.538G>C (p.Val180Leu) c.124-10451G>C (n.124-10451G>C) | ClinVar dbSNP |
| 11 | g.2572984G>T | CA379131793 | KCNQ1 | c.658G>T (p.Val220Leu) c.478-10451G>T (n.478-10451G>T) c.919G>T (p.Val307Leu) c.538G>T (p.Val180Leu) c.124-10451G>T (n.124-10451G>T) | ClinVar dbSNP |