| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449496C>A | CA331916 | KCNE1 | c.139G>T (p.Val47Phe) c.13+5890G>T (n.13+5890G>T) c.279+9158G>T (n.279+9158G>T) c.202G>T (p.Val68Phe) | ClinVar dbSNP |
| 21 | g.34449496C>T | CA320425428 | KCNE1 | c.139G>A (p.Val47Ile) c.13+5890G>A (n.13+5890G>A) c.279+9158G>A (n.279+9158G>A) c.202G>A (p.Val68Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |