Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150974868C>A | CA004747 | KCNH2 | c.150G>T (p.Glu50Asp) c.-28G>T (n.-28G>T) n.373G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150974868C= | CA1752441106 | KCNH2 | c.150G= (p.Glu50=) c.-28G= (n.-28G=) n.373G= | dbSNP dbSNP |
7 | g.150974868C>T | CA458872398 | KCNH2 | c.150G>A (p.Glu50=) c.-28G>A (n.-28G>A) n.373G>A | dbSNP gnomAD v4 |