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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.47574336C>G
CA329057259
SYN1
c.1648G>C (p.Ala550Pro)
c.70+352G>C (n.70+352G>C)
dbSNP
gnomAD v4
X
g.47574336C>T
CA130887
SYN1
c.1648G>A (p.Ala550Thr)
c.70+352G>A (n.70+352G>A)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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