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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.53692201T>A
CA114729
RPGRIP1L
c.394A>T (p.Arg132Ter)
n.437A>T
n.426A>T
ClinVar
dbSNP
gnomAD v4
16
g.53692201T>C
CA395924906
RPGRIP1L
c.394A>G (p.Arg132Gly)
n.437A>G
n.426A>G
dbSNP
Number of alleles fetched
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