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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.46115927T>C
CA10071486
COL6A2
c.855+2T>C (n.855+2T>C)
n.511+2T>C
n.978+2T>C
n.985+2T>C
dbSNP
ExAC
gnomAD v2
gnomAD v4
21
g.46115927T>G
CA221843
COL6A2
c.855+2T>G (n.855+2T>G)
n.511+2T>G
n.978+2T>G
n.985+2T>G
ClinVar
dbSNP
Number of alleles fetched
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