Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150948945G>T | CA458645162 | KCNH2 | n.3336C>A c.2503C>A (p.Arg835=) c.1483C>A (p.Arg495=) c.2203C>A (p.Arg735=) c.2353C>A (p.Arg785=) c.2326C>A (p.Arg776=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948945G>A | CA006850 | KCNH2 | n.3336C>T c.2503C>T (p.Arg835Trp) c.1483C>T (p.Arg495Trp) c.2203C>T (p.Arg735Trp) c.2353C>T (p.Arg785Trp) c.2326C>T (p.Arg776Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |