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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.54123802C>A
CA253137
PRPF31
c.581C>A (p.Ala194Glu)
n.451C>A
n.364C>A
n.630C>A
n.711C>A
n.642C>A
ClinVar
dbSNP
19
g.54123802C>T
CA407750549
PRPF31
c.581C>T (p.Ala194Val)
n.451C>T
n.364C>T
n.630C>T
n.711C>T
n.642C>T
dbSNP
gnomAD v4
Number of alleles fetched
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