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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.149047862C>T
CA339459
SH3TC2
c.227G>A
c.279G>A (p.Lys93=)
n.315G>A
n.349G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
5
g.149047862C=
CA1590321495
SH3TC2
c.227G=
c.279G= (p.Lys93=)
n.315G=
n.349G=
dbSNP
Number of alleles fetched
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