| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449552G>A | CA331973 | KCNE1 | c.83C>T (p.Ser28Leu) c.13+5834C>T (n.13+5834C>T) c.279+9102C>T (n.279+9102C>T) c.146C>T (p.Ser49Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.34449552G= | CA2387113499 | KCNE1 | c.83C= (p.Ser28=) c.13+5834C= (n.13+5834C=) c.279+9102C= (n.279+9102C=) c.146C= (p.Ser49=) | dbSNP |