| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449576G>A | CA331968 | KCNE1 | c.59C>T (p.Thr20Ile) c.13+5810C>T (n.13+5810C>T) c.279+9078C>T (n.279+9078C>T) c.122C>T (p.Thr41Ile) | ClinVar dbSNP gnomAD v4 |
| 21 | g.34449576G= | CA2387113508 | KCNE1 | c.59C= (p.Thr20=) c.13+5810C= (n.13+5810C=) c.279+9078C= (n.279+9078C=) c.122C= (p.Thr41=) | dbSNP |