Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48251770G>CCA392313732SLC12A1c.1942G>C (p.Asp648His)
c.2080G>C (p.Asp694His)
n.6065G>C
c.1381G>C (p.Asp461His)
n.6081G>C
c.2038G>C (p.Asp680His)
n.2254G>C
dbSNP gnomAD v3 gnomAD v4
15g.48251770G>ACA119888SLC12A1c.1942G>A (p.Asp648Asn)
c.2080G>A (p.Asp694Asn)
n.6065G>A
c.1381G>A (p.Asp461Asn)
n.6081G>A
c.2038G>A (p.Asp680Asn)
n.2254G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched