Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88733731C>TCA082796HSALR1,PIEZO1c.2344G>A (p.Gly782Ser)
n.269+2283C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88733731C>ACA397112468HSALR1,PIEZO1c.2344G>T (p.Gly782Cys)
n.269+2283C>A
dbSNP gnomAD v2 gnomAD v4
16g.88733731C=CA2241262079HSALR1,PIEZO1c.2344G= (p.Gly782=)
n.269+2283C=
dbSNP

Number of alleles fetched