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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.130406145C>T
CA2611145
COL6A5
c.4395C>T (p.Asp1465=)
n.4889C>T
n.4733C>T
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
3
g.130406145C=
CA1401624805
COL6A5
c.4395C= (p.Asp1465=)
n.4889C=
n.4733C=
dbSNP
Number of alleles fetched
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