| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572963G>A | CA008554 | KCNQ1 | c.637G>A (p.Ala213Thr) c.478-10472G>A (n.478-10472G>A) c.898G>A (p.Ala300Thr) c.517G>A (p.Ala173Thr) c.124-10472G>A (n.124-10472G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572963G>T | CA379131697 | KCNQ1 | c.637G>T (p.Ala213Ser) c.478-10472G>T (n.478-10472G>T) c.898G>T (p.Ala300Ser) c.517G>T (p.Ala173Ser) c.124-10472G>T (n.124-10472G>T) | ClinVar dbSNP gnomAD v4 |