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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.161307304G>C
CA123796
MPZ
c.188C>G (p.Ser63Cys)
c.-401C>G (n.-401C>G)
n.251C>G
c.218C>G (p.Ser73Cys)
ClinVar
dbSNP
1
g.161307304G>A
CA257156
MPZ
c.188C>T (p.Ser63Phe)
c.-401C>T (n.-401C>T)
n.251C>T
c.218C>T (p.Ser73Phe)
ClinVar
dbSNP
Number of alleles fetched
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