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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.45997703del
CA257739
COL6A1
n.240del
c.1465del (p.Ala489ProfsTer16)
ClinVar
dbSNP
21
g.45997703G=
CA2392438147
COL6A1
n.240G=
c.1465G= (p.Ala489=)
dbSNP
dbSNP
Number of alleles fetched
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