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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.94014665G>C
CA340713
ABCA4
c.5338C>G (p.Pro1780Ala)
c.1714C>G (p.Pro572Ala)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.94014665G>A
CA341281486
ABCA4
c.5338C>T (p.Pro1780Ser)
c.1714C>T (p.Pro572Ser)
ClinVar
dbSNP
Number of alleles fetched
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