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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
20
g.10413360C>A
CA408233719
MKKS
c.155G>T (p.Gly52Val)
n.458+436G>T
n.364-4557G>T
n.347-4557G>T
dbSNP
20
g.10413360C>T
CA253459
MKKS
c.155G>A (p.Gly52Asp)
n.458+436G>A
n.364-4557G>A
n.347-4557G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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