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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.189043177C>G
CA281080
COL5A2
c.3445G>C (p.Gly1149Arg)
c.2284G>C (p.Gly762Arg)
c.3307G>C (p.Gly1103Arg)
ClinVar
dbSNP
ExAC
gnomAD v2
2
g.189043177C=
CA1315416237
COL5A2
c.3445G= (p.Gly1149=)
c.2284G= (p.Gly762=)
c.3307G= (p.Gly1103=)
dbSNP
Number of alleles fetched
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