Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150948483G>A | CA007076 | KCNH2 | n.3486C>T c.2653C>T (p.Arg885Cys) c.1633C>T (p.Arg545Cys) c.2353C>T (p.Arg785Cys) c.2503C>T (p.Arg835Cys) c.2476C>T (p.Arg826Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948483G>T | CA033654 | KCNH2 | n.3486C>A c.2653C>A (p.Arg885Ser) c.1633C>A (p.Arg545Ser) c.2353C>A (p.Arg785Ser) c.2503C>A (p.Arg835Ser) c.2476C>A (p.Arg826Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |