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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.88731721G>C
CA8232557
HSALR1,PIEZO1
c.3181C>G (p.Pro1061Ala)
n.269+273G>C
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
16
g.88731721G>A
CA397107025
HSALR1,PIEZO1
c.3181C>T (p.Pro1061Ser)
n.269+273G>A
dbSNP
gnomAD v4
Number of alleles fetched
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