| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449436G>C | CA410198283 | KCNE1 | c.199C>G (p.Arg67Gly) c.13+5950C>G (n.13+5950C>G) c.279+9218C>G (n.279+9218C>G) c.262C>G (p.Arg88Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.34449436G>T | CA320425320 | KCNE1 | c.199C>A (p.Arg67Ser) c.13+5950C>A (n.13+5950C>A) c.279+9218C>A (n.279+9218C>A) c.262C>A (p.Arg88Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.34449436G>A | CA185017 | KCNE1 | c.199C>T (p.Arg67Cys) c.13+5950C>T (n.13+5950C>T) c.279+9218C>T (n.279+9218C>T) c.262C>T (p.Arg88Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |