| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38620929C>G | CA019045 | SCN5A | c.525G>C (p.Lys175Asn) n.720G>C c.482+1471G>C (n.482+1471G>C) | ClinVar dbSNP |
| 3 | g.38620929C>A | CA352153868 | SCN5A | c.525G>T (p.Lys175Asn) n.720G>T c.482+1471G>T (n.482+1471G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38620929C= | CA1358592340 | SCN5A | c.525G= (p.Lys175=) n.720G= c.482+1471G= (n.482+1471G=) | dbSNP |