Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38554372C>A | CA352143768 | SCN5A | c.4717G>T (p.Glu1573Ter) c.4720G>T (p.Glu1574Ter) c.4666G>T (p.Glu1556Ter) c.4558G>T (p.Glu1520Ter) c.4714+3G>T (n.4714+3G>T) n.178G>T c.4591G>T (p.Glu1531Ter) c.4663G>T (p.Glu1555Ter) | ClinVar dbSNP |
3 | g.38554372C>T | CA018503 | SCN5A | c.4717G>A (p.Glu1573Lys) c.4720G>A (p.Glu1574Lys) c.4666G>A (p.Glu1556Lys) c.4558G>A (p.Glu1520Lys) c.4714+3G>A (n.4714+3G>A) n.178G>A c.4591G>A (p.Glu1531Lys) c.4663G>A (p.Glu1555Lys) | ClinVar dbSNP gnomAD v4 |