Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.35806474C>G | CA5051972 | NPR2 | c.495C>G c.2455C>G (p.Arg819Gly) c.2383C>G (p.Arg795Gly) n.2494C>G n.1625C>G n.2569C>G c.2308C>G (p.Arg770Gly) n.1610C>G c.2614C>G (p.Arg872Gly) n.2412C>G n.2387C>G n.2761C>G c.2249C>G (n.2249C>G) c.2312C>G (n.2312C>G) c.2539C>G (p.Arg847Gly) c.2244C>G (n.2244C>G) n.2316C>G n.2244C>G c.1955C>G (n.1955C>G) n.3770C>G c.2319C>G (n.2319C>G) n.3571C>G c.232C>G (p.Arg78Gly) n.2455C>G c.2464C>G (p.Arg822Gly) c.1477C>G (p.Arg493Gly) c.2392C>G (p.Arg798Gly) c.1060C>G (p.Arg354Gly) c.2623C>G (p.Arg875Gly) c.1636C>G (p.Arg546Gly) c.1219C>G (p.Arg407Gly) c.1210C>G (p.Arg404Gly) c.1051C>G (p.Arg351Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.35806474C>T | CA204426 | NPR2 | c.495C>T c.2455C>T (p.Arg819Cys) c.2383C>T (p.Arg795Cys) n.2494C>T n.1625C>T n.2569C>T c.2308C>T (p.Arg770Cys) n.1610C>T c.2614C>T (p.Arg872Cys) n.2412C>T n.2387C>T n.2761C>T c.2249C>T (n.2249C>T) c.2312C>T (n.2312C>T) c.2539C>T (p.Arg847Cys) c.2244C>T (n.2244C>T) n.2316C>T n.2244C>T c.1955C>T (n.1955C>T) n.3770C>T c.2319C>T (n.2319C>T) n.3571C>T c.232C>T (p.Arg78Cys) n.2455C>T c.2464C>T (p.Arg822Cys) c.1477C>T (p.Arg493Cys) c.2392C>T (p.Arg798Cys) c.1060C>T (p.Arg354Cys) c.2623C>T (p.Arg875Cys) c.1636C>T (p.Arg546Cys) c.1219C>T (p.Arg407Cys) c.1210C>T (p.Arg404Cys) c.1051C>T (p.Arg351Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |