Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169530805T>CCA251551F5c.5189A>G (p.Tyr1730Cys)
c.5204A>G (p.Tyr1735Cys)
c.4778A>G (p.Tyr1593Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169530805T=CA1141580289F5c.5189A= (p.Tyr1730=)
c.5204A= (p.Tyr1735=)
c.4778A= (p.Tyr1593=)
dbSNP

Number of alleles fetched