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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.114325331C>T
CA205031
CHAMP1
c.1489C>T (p.Arg497Ter)
n.123+10688C>T
n.285+4099C>T
ClinVar
dbSNP
13
g.114325331C>G
CA7070822
CHAMP1
c.1489C>G (p.Arg497Gly)
n.123+10688C>G
n.285+4099C>G
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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