Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94111579C>ACA226909ABCA4c.161G>T (p.Cys54Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94111579C>TCA226908ABCA4c.161G>A (p.Cys54Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94111579C=CA1142385108ABCA4c.161G= (p.Cys54=)
dbSNP

Number of alleles fetched