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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.128566795C>T
CA375049451
SPTAN1
c.91C>T (p.Arg31Trp)
c.55C>T (p.Arg19Trp)
n.223C>T
n.165C>T
ClinVar
dbSNP
9
g.128566795C>A
CA5264098
SPTAN1
c.91C>A (p.Arg31=)
c.55C>A (p.Arg19=)
n.223C>A
n.165C>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Showing alleles 1 - 2 from query results
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