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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.2326201C>G
CA394352685
ABCA3
c.128G>C (p.Arg43Pro)
n.691G>C
dbSNP
16
g.2326201C>T
CA7841779
ABCA3
c.128G>A (p.Arg43His)
n.691G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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