Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.69864406T>ACA8994313CD226c.919A>T (p.Ser307Cys)
c.454A>T (p.Ser152Cys)
c.110-22011A>T (n.110-22011A>T)
c.550A>T (p.Ser184Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.69864406T>CCA8994312CD226c.919A>G (p.Ser307Gly)
c.454A>G (p.Ser152Gly)
c.110-22011A>G (n.110-22011A>G)
c.550A>G (p.Ser184Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.69864406T>GCA402741344CD226c.919A>C (p.Ser307Arg)
c.454A>C (p.Ser152Arg)
c.110-22011A>C (n.110-22011A>C)
c.550A>C (p.Ser184Arg)
dbSNP

Number of alleles fetched