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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.94015766G>A
CA341281595
ABCA4
c.5285C>T (p.Ala1762Val)
c.1661C>T (p.Ala554Val)
dbSNP
gnomAD v2
gnomAD v4
1
g.94015766G>T
CA119142
ABCA4
c.5285C>A (p.Ala1762Asp)
c.1661C>A (p.Ala554Asp)
ClinVar
dbSNP
Number of alleles fetched
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