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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.54999208C>T
CA116806
BSND
c.22C>T (p.Arg8Trp)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.54999208C>A
CA417956507
BSND
c.22C>A (p.Arg8=)
dbSNP
Number of alleles fetched
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