Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38560315C>T | CA062806 | SCN5A | c.4074G>A (p.Lys1358=) c.4077G>A (p.Lys1359=) c.3915G>A (p.Lys1305=) c.3948G>A (p.Lys1316=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560315C>A | CA017858 | SCN5A | c.4074G>T (p.Lys1358Asn) c.4077G>T (p.Lys1359Asn) c.3915G>T (p.Lys1305Asn) c.3948G>T (p.Lys1316Asn) | ClinVar dbSNP |