Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49954647C>TCA6559293AQP2,AQP5-AS1c.543C>T (p.Cys181=)
c.669C>T (p.Cys223=)
n.257-299G>A
n.118-2559G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49954647C>GCA127484AQP2,AQP5-AS1c.543C>G (p.Cys181Trp)
c.669C>G (p.Cys223Trp)
n.257-299G>C
n.118-2559G>C
ClinVar dbSNP
12g.49954647C=CA2035394717AQP2,AQP5-AS1c.543C= (p.Cys181=)
c.669C= (p.Cys223=)
n.257-299G=
n.118-2559G=
dbSNP

Number of alleles fetched