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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.189062865C>T
CA322857
COL5A2
c.1977G>A (p.Pro659=)
n.83G>A
c.816G>A (p.Pro272=)
c.1839G>A (p.Pro613=)
ClinVar
dbSNP
gnomAD v4
2
g.189062865C=
CA1315430339
COL5A2
c.1977G= (p.Pro659=)
n.83G=
c.816G= (p.Pro272=)
c.1839G= (p.Pro613=)
dbSNP
Number of alleles fetched
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