Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94001992C>GCA220688ABCA4c.6148G>C (p.Val2050Leu)
n.564G>C
c.2524G>C (p.Val842Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001992C=CA1140611817ABCA4c.6148G= (p.Val2050=)
n.564G=
c.2524G= (p.Val842=)
 dbSNP

Number of alleles fetched