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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.48456207T>C
CA483558281
RB1
c.1818T>C (p.Tyr606=)
c.194+74764T>C
n.517T>C
c.1557T>C (p.Tyr519=)
dbSNP
13
g.48456207T>A
CA026402
RB1
c.1818T>A (p.Tyr606Ter)
c.194+74764T>A
n.517T>A
c.1557T>A (p.Tyr519Ter)
ClinVar
dbSNP
COSMIC
Number of alleles fetched
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