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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.94043413G>A
CA119135
ABCA4
c.3113C>T (p.Ala1038Val)
c.-64-3324C>T (n.-64-3324C>T)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.94043413G=
CA1140725872
ABCA4
c.3113C= (p.Ala1038=)
c.-64-3324C= (n.-64-3324C=)
dbSNP
Number of alleles fetched
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