Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49954647C>TCA6559293AQP2c.543C>T (p.Cys181=)
n.257-299G>A
n.118-2559G>A
c.669C>T (p.Cys223=)
dbSNP ExAC gnomAD
12g.49954647C>GCA127484AQP2c.543C>G (p.Cys181Trp)
n.257-299G>C
n.118-2559G>C
c.669C>G (p.Cys223Trp)
ClinVar dbSNP

Number of alleles fetched