| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449463T>C | CA410198338 | KCNE1 | c.172A>G (p.Thr58Ala) c.13+5923A>G (n.13+5923A>G) c.279+9191A>G (n.279+9191A>G) c.235A>G (p.Thr79Ala) | ClinVar dbSNP gnomAD v4 |
| 21 | g.34449463T>G | CA331930 | KCNE1 | c.172A>C (p.Thr58Pro) c.13+5923A>C (n.13+5923A>C) c.279+9191A>C (n.279+9191A>C) c.235A>C (p.Thr79Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.34449463T>A | CA410198337 | KCNE1 | c.172A>T (p.Thr58Ser) c.13+5923A>T (n.13+5923A>T) c.279+9191A>T (n.279+9191A>T) c.235A>T (p.Thr79Ser) | ClinVar dbSNP |
| 21 | g.34449463T= | CA2387113440 | KCNE1 | c.172A= (p.Thr58=) c.13+5923A= (n.13+5923A=) c.279+9191A= (n.279+9191A=) c.235A= (p.Thr79=) | dbSNP |