Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150948446T>C | CA369853610 | KCNH2 | n.3523A>G c.2690A>G (p.Lys897Arg) c.1670A>G (p.Lys557Arg) c.2390A>G (p.Lys797Arg) c.2540A>G (p.Lys847Arg) c.2513A>G (p.Lys838Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948446T>A | CA007169 | KCNH2 | n.3523A>T c.2690A>T (p.Lys897Met) c.1670A>T (p.Lys557Met) c.2390A>T (p.Lys797Met) c.2540A>T (p.Lys847Met) c.2513A>T (p.Lys838Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948446T>G | CA007162 | KCNH2 | n.3523A>C c.2690A>C (p.Lys897Thr) c.1670A>C (p.Lys557Thr) c.2390A>C (p.Lys797Thr) c.2540A>C (p.Lys847Thr) c.2513A>C (p.Lys838Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |