Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.35806474C>GCA5051972NPR2c.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
9g.35806474C>TCA204426NPR2c.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

Number of alleles fetched