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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.94063250A>G
CA226911
ABCA4
c.1622T>C (p.Leu541Pro)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.94063250A=
CA1140726149
ABCA4
c.1622T= (p.Leu541=)
dbSNP
1
g.94063250A>T
CA341280461
ABCA4
c.1622T>A (p.Leu541Gln)
dbSNP
Number of alleles fetched
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