Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94001071C>TCA16044110ABCA4c.6317G>A (p.Arg2106His)
c.2693G>A (p.Arg898His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.94001071C=CA1181397777ABCA4c.6317G= (p.Arg2106=)
c.2693G= (p.Arg898=)
dbSNP dbSNP

Number of alleles fetched