Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38555686C>T | CA063280 | SCN5A | c.4509G>A (p.Lys1503=) c.4512G>A (p.Lys1504=) c.4458G>A (p.Lys1486=) c.4350G>A (p.Lys1450=) c.4383G>A (p.Lys1461=) c.4455G>A (p.Lys1485=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38555686C>A | CA018395 | SCN5A | c.4509G>T (p.Lys1503Asn) c.4512G>T (p.Lys1504Asn) c.4458G>T (p.Lys1486Asn) c.4350G>T (p.Lys1450Asn) c.4383G>T (p.Lys1461Asn) c.4455G>T (p.Lys1485Asn) | dbSNP |