Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88734501C>ACA10603280HSALR1,PIEZO1c.2035G>T (p.Glu679Ter)
n.269+3053C>A
ClinVar dbSNP gnomAD v4
16g.88734501C>TCA286424090HSALR1,PIEZO1c.2035G>A (p.Glu679Lys)
n.269+3053C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched