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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.46126144T>C
CA257728
COL6A2
c.2329T>C (p.Cys777Arg)
n.2406T>C
n.2413T>C
ClinVar
dbSNP
gnomAD v2
gnomAD v4
21
g.46126144T=
CA2392507807
COL6A2
c.2329T= (p.Cys777=)
n.2406T=
n.2413T=
dbSNP
Number of alleles fetched
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