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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.94417738G>T
CA4347225
COL1A2
c.1878G>T (p.Val626=)
n.215G>T
n.275G>T
c.1872G>T (p.Val624=)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
7
g.94417738G=
CA1726767469
COL1A2
c.1878G= (p.Val626=)
n.215G=
n.275G=
c.1872G= (p.Val624=)
dbSNP
Number of alleles fetched
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