Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94014665G>CCA340713ABCA4c.5338C>G (p.Pro1780Ala)
c.1714C>G (p.Pro572Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94014665G>ACA341281486ABCA4c.5338C>T (p.Pro1780Ser)
c.1714C>T (p.Pro572Ser)
dbSNP

Number of alleles fetched