| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570638del | CA007232 | KCNQ1 | c.227del (p.Leu76ArgfsTer?) c.478-12797del (n.478-12797del) c.488del (p.Leu163ArgfsTer?) c.107del (p.Leu36ArgfsTer?) c.124-12797del (n.124-12797del) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570638T= | CA3182733379 | KCNQ1 | c.227T= (p.Leu76=) c.478-12797T= (n.478-12797T=) c.488T= (p.Leu163=) c.107T= (p.Leu36=) c.124-12797T= (n.124-12797T=) | dbSNP dbSNP |