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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.31592974G>A
CA256790
TTR
c.148G>A (p.Val50Met)
c.52G>A (p.Val18Met)
n.174G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
18
g.31592974G>C
CA256825
TTR
c.148G>C (p.Val50Leu)
c.52G>C (p.Val18Leu)
n.174G>C
ClinVar
dbSNP
Number of alleles fetched
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