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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.240788191G>A
CA236139
KIF1A
c.223C>T (p.Arg75Trp)
n.381C>T
n.374C>T
n.379C>T
c.246C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.240788191G=
CA1339291473
KIF1A
c.223C= (p.Arg75=)
n.381C=
n.374C=
n.379C=
c.246C=
dbSNP
Number of alleles fetched
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