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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.45992022G>A
CA410524654
COL6A1
c.1132G>A (p.Ala378Thr)
dbSNP
gnomAD v2
gnomAD v4
21
g.45992022G>C
CA16043157
COL6A1
c.1132G>C (p.Ala378Pro)
ClinVar
dbSNP
Number of alleles fetched
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