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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.33061326T>C
CA6944273
KL
c.2247T>C (p.Ala749=)
n.2305T>C
c.1326T>C (p.Ala442=)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
13
g.33061326T>A
CA483442756
KL
c.2247T>A (p.Ala749=)
n.2305T>A
c.1326T>A (p.Ala442=)
dbSNP
Number of alleles fetched
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