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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.63953532G>A
CA8990501
HMSD
c.72+5G>A (n.72+5G>A)
n.45-876G>A
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
18
g.63953532G>C
CA301867982
HMSD
c.72+5G>C (n.72+5G>C)
n.45-876G>C
dbSNP
gnomAD v2
Number of alleles fetched
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