Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68431328T>CCA226500RPE65c.1292A>G (p.Tyr431Cys)
c.1016A>G (p.Tyr339Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431328T>GCA340742527RPE65c.1292A>C (p.Tyr431Ser)
c.1016A>C (p.Tyr339Ser)
 dbSNP gnomAD v3 gnomAD v4

Showing alleles 1 - 2 from query results