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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.88733972C>T
CA397112873
HSALR1,PIEZO1
c.2263G>A (p.Glu755Lys)
n.269+2524C>T
dbSNP
gnomAD v2
gnomAD v4
16
g.88733972C>A
CA352205
HSALR1,PIEZO1
c.2263G>T (p.Glu755Ter)
n.269+2524C>A
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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