| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449373G>C | CA410198155 | KCNE1 | c.262C>G (p.Gln88Glu) c.13+6013C>G (n.13+6013C>G) c.279+9281C>G (n.279+9281C>G) c.325C>G (p.Gln109Glu) | ClinVar dbSNP gnomAD v4 |
| 21 | g.34449373G>T | CA320425226 | KCNE1 | c.262C>A (p.Gln88Lys) c.13+6013C>A (n.13+6013C>A) c.279+9281C>A (n.279+9281C>A) c.325C>A (p.Gln109Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.34449373G>A | CA10588708 | KCNE1 | c.262C>T (p.Gln88Ter) c.13+6013C>T (n.13+6013C>T) c.279+9281C>T (n.279+9281C>T) c.325C>T (p.Gln109Ter) | ClinVar dbSNP |
| 21 | g.34449373G= | CA2387113387 | KCNE1 | c.262C= (p.Gln88=) c.13+6013C= (n.13+6013C=) c.279+9281C= (n.279+9281C=) c.325C= (p.Gln109=) | dbSNP |