Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67717595A>GCA120695ARc.*639A>G (n.*639A>G)
c.2291A>G (p.Tyr764Cys)
c.918A>G (n.918A>G)
c.2173+5906A>G (n.2173+5906A>G)
c.695A>G (p.Tyr232Cys)
c.1721A>G (p.Tyr574Cys)
ClinVar dbSNP COSMIC
Xg.67717595A>CCA413424747ARc.*639A>C (n.*639A>C)
c.2291A>C (p.Tyr764Ser)
c.918A>C (n.918A>C)
c.2173+5906A>C (n.2173+5906A>C)
c.695A>C (p.Tyr232Ser)
c.1721A>C (p.Tyr574Ser)
dbSNP
Xg.67717595A>TCA413424748ARc.*639A>T (n.*639A>T)
c.2291A>T (p.Tyr764Phe)
c.918A>T (n.918A>T)
c.2173+5906A>T (n.2173+5906A>T)
c.695A>T (p.Tyr232Phe)
c.1721A>T (p.Tyr574Phe)
dbSNP gnomAD v4

Number of alleles fetched