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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.227248459A>G
CA2146171
COL4A3,MFF-DT
c.485A>G (p.Glu162Gly)
n.1593-10285T>C
n.623A>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.227248459A>T
CA350863488
COL4A3,MFF-DT
c.485A>T (p.Glu162Val)
n.1593-10285T>A
n.623A>T
dbSNP
Number of alleles fetched
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