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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.149047930G>A
CA348045
SH3TC2
c.159C>T
c.211C>T (p.Gln71Ter)
n.247C>T
n.281C>T
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.149047930G=
CA1590321533
SH3TC2
c.159C=
c.211C= (p.Gln71=)
n.247C=
n.281C=
dbSNP
dbSNP
Number of alleles fetched
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