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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.75765055G>T
CA117658
GALK1
c.82C>A (p.Pro28Thr)
n.79C>A
n.103C>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
17
g.75765055G>A
CA401109860
GALK1
c.82C>T (p.Pro28Ser)
n.79C>T
n.103C>T
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Showing alleles 1 - 2 from query results
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