Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88733652C>ACA397112218HSALR1,PIEZO1c.2423G>T (p.Arg808Leu)
n.269+2204C>A
dbSNP gnomAD v4
16g.88733652C>TCA082797HSALR1,PIEZO1c.2423G>A (p.Arg808Gln)
n.269+2204C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched