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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
4
g.122742955C>T
CA251706
BBS12
c.1063C>T (p.Arg355Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
4
g.122742955C>A
CA441120763
BBS12
c.1063C>A (p.Arg355=)
dbSNP
gnomAD v4
4
g.122742955C=
CA1490417851
BBS12
c.1063C= (p.Arg355=)
dbSNP
Number of alleles fetched
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