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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.161307259G>C
CA16609896
MPZ
c.233C>G (p.Ser78Trp)
c.-356C>G (n.-356C>G)
n.296C>G
c.263C>G (p.Ser88Trp)
ClinVar
dbSNP
1
g.161307259G>A
CA123805
MPZ
c.233C>T (p.Ser78Leu)
c.-356C>T (n.-356C>T)
n.296C>T
c.263C>T (p.Ser88Leu)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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