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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.108571416G>T
CA258239
COL4A5
c.388G>T (p.Glu130Ter)
c.64G>T (p.Glu22Ter)
c.403G>T (p.Glu135Ter)
dbSNP
gnomAD v4
X
g.108571416G>A
CA413919737
COL4A5
c.388G>A (p.Glu130Lys)
c.64G>A (p.Glu22Lys)
c.403G>A (p.Glu135Lys)
dbSNP
gnomAD v4
Number of alleles fetched
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