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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.45990771A>G
CA208649
COL6A1
c.1003-2A>G (n.1003-2A>G)
ClinVar
dbSNP
21
g.45990771A>C
CA410523311
COL6A1
c.1003-2A>C (n.1003-2A>C)
ClinVar
dbSNP
Number of alleles fetched
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