| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449343G>A | CA199783 | KCNE1 | c.292C>T (p.Arg98Trp) c.13+6043C>T (n.13+6043C>T) c.279+9311C>T (n.279+9311C>T) c.355C>T (p.Arg119Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.34449343G>C | CA10577127 | KCNE1 | c.292C>G (p.Arg98Gly) c.13+6043C>G (n.13+6043C>G) c.279+9311C>G (n.279+9311C>G) c.355C>G (p.Arg119Gly) | ClinVar dbSNP |
| 21 | g.34449343G>T | CA320425178 | KCNE1 | c.292C>A (p.Arg98=) c.13+6043C>A (n.13+6043C>A) c.279+9311C>A (n.279+9311C>A) c.355C>A (p.Arg119=) | ClinVar dbSNP gnomAD v4 |