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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.188994297G>C
CA349851484
COL3A1
c.1159G>C (p.Gly387Arg)
c.1258G>C (p.Gly420Arg)
c.257G>C
dbSNP
2
g.188994297G>A
CA004179
COL3A1
c.1159G>A (p.Gly387Ser)
c.1258G>A (p.Gly420Ser)
c.257G>A
ClinVar
dbSNP
gnomAD v4
COSMIC
COSMIC
Number of alleles fetched
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