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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.22813238C>A
CA253808
SLC7A7
c.161G>T (p.Gly54Val)
c.-300+6400G>T (n.-300+6400G>T)
n.776G>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
14
g.22813238C=
CA2123167689
SLC7A7
c.161G= (p.Gly54=)
c.-300+6400G= (n.-300+6400G=)
n.776G=
dbSNP
Number of alleles fetched
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