Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94060739C>TCA958377ABCA4c.1958G>A (p.Arg653His)
n.78G>A
c.-65+2435G>A (n.-65+2435G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94060739C>ACA341278906ABCA4c.1958G>T (p.Arg653Leu)
n.78G>T
c.-65+2435G>T (n.-65+2435G>T)
ClinVar dbSNP

Number of alleles fetched