| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550512C>T | CA019513 | SCN5A | c.5857G>A (p.Glu1953Lys) c.5860G>A (p.Glu1954Lys) c.5806G>A (p.Glu1936Lys) c.5698G>A (p.Glu1900Lys) c.5761G>A (p.Glu1921Lys) c.5731G>A (p.Glu1911Lys) c.5803G>A (p.Glu1935Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550512C>A | CA352139667 | SCN5A | c.5857G>T (p.Glu1953Ter) c.5860G>T (p.Glu1954Ter) c.5806G>T (p.Glu1936Ter) c.5698G>T (p.Glu1900Ter) c.5761G>T (p.Glu1921Ter) c.5731G>T (p.Glu1911Ter) c.5803G>T (p.Glu1935Ter) | dbSNP gnomAD v4 |
| 3 | g.38550512C= | CA1358555921 | SCN5A | c.5857G= (p.Glu1953=) c.5860G= (p.Glu1954=) c.5806G= (p.Glu1936=) c.5698G= (p.Glu1900=) c.5761G= (p.Glu1921=) c.5731G= (p.Glu1911=) c.5803G= (p.Glu1935=) | dbSNP |