| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38613752C>T | CA019745 | SCN5A | c.694G>A (p.Val232Ile) c.703+223G>A (n.703+223G>A) c.565G>A (p.Val189Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38613752C= | CA1358589357 | SCN5A | c.694G= (p.Val232=) c.703+223G= (n.703+223G=) c.565G= (p.Val189=) | dbSNP |
| 3 | g.38613752C>G | CA352151473 | SCN5A | c.694G>C (p.Val232Leu) c.703+223G>C (n.703+223G>C) c.565G>C (p.Val189Leu) | dbSNP |