| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10696263G>A | CA10581453 | PIEZO2 | c.*103C>T (n.*103C>T) n.1740C>T c.7001C>T (p.Thr2334Ile) c.6662C>T (p.Thr2221Ile) c.6515C>T (p.Thr2172Ile) c.533C>T (p.Thr178Ile) c.6737C>T (p.Thr2246Ile) c.6868C>T (n.6868C>T) c.6794C>T (p.Thr2265Ile) c.6704C>T (p.Thr2235Ile) c.6611C>T (p.Thr2204Ile) c.6755C>T (p.Thr2252Ile) n.7791C>T | ClinVar dbSNP |
| 18 | g.10696263G= | CA2284420973 | PIEZO2 | c.*103C= (n.*103C=) n.1740C= c.7001C= (p.Thr2334=) c.6662C= (p.Thr2221=) c.6515C= (p.Thr2172=) c.533C= (p.Thr178=) c.6737C= (p.Thr2246=) c.6868C= (n.6868C=) c.6794C= (p.Thr2265=) c.6704C= (p.Thr2235=) c.6611C= (p.Thr2204=) c.6755C= (p.Thr2252=) n.7791C= | dbSNP |