Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38550944C>A | CA16611373 | SCN5A | c.5425G>T (p.Glu1809Ter) c.5428G>T (p.Glu1810Ter) c.5374G>T (p.Glu1792Ter) c.5266G>T (p.Glu1756Ter) c.5329G>T (p.Glu1777Ter) c.5299G>T (p.Glu1767Ter) c.5371G>T (p.Glu1791Ter) | ClinVar dbSNP |
3 | g.38550944C= | CA1358556965 | SCN5A | c.5425G= (p.Glu1809=) c.5428G= (p.Glu1810=) c.5374G= (p.Glu1792=) c.5266G= (p.Glu1756=) c.5329G= (p.Glu1777=) c.5299G= (p.Glu1767=) c.5371G= (p.Glu1791=) | dbSNP |