Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150974720G>T | CA036232 | KCNH2 | c.298C>A (p.Arg100=) c.121C>A (p.Arg41=) n.521C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974720G>C | CA007737 | KCNH2 | c.298C>G (p.Arg100Gly) c.121C>G (p.Arg41Gly) n.521C>G | ClinVar dbSNP |
7 | g.150974720G>A | CA007747 | KCNH2 | c.298C>T (p.Arg100Trp) c.121C>T (p.Arg41Trp) n.521C>T | ClinVar dbSNP gnomAD v4 |