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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.32063958G>C
CA1600497
SPAST
c.127G>C (p.Glu43Gln)
c.11G>C
c.3G>C
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.32063958G>T
CA16610962
SPAST
c.127G>T (p.Glu43Ter)
c.11G>T
c.3G>T
ClinVar
dbSNP
Number of alleles fetched
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