| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449376A>G | CA331960 | KCNE1 | c.259T>C (p.Trp87Arg) c.13+6010T>C (n.13+6010T>C) c.279+9278T>C (n.279+9278T>C) c.322T>C (p.Trp108Arg) | ClinVar dbSNP gnomAD v4 |
| 21 | g.34449376A= | CA2387113388 | KCNE1 | c.259T= (p.Trp87=) c.13+6010T= (n.13+6010T=) c.279+9278T= (n.279+9278T=) c.322T= (p.Trp108=) | dbSNP |