| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10671730G>A | CA163196 | PIEZO2 | c.*1497C>T (n.*1497C>T) n.3138C>T n.2293C>T c.1591C>T (n.1591C>T) c.8395C>T (p.Arg2799Cys) c.7867C>T (p.Arg2623Cys) c.7909C>T (p.Arg2637Cys) c.8056C>T (p.Arg2686Cys) c.1927C>T (p.Arg643Cys) c.8131C>T (p.Arg2711Cys) n.532C>T c.8262C>T (n.8262C>T) c.58+960C>T (n.58+960C>T) c.8188C>T (p.Arg2730Cys) c.8098C>T (p.Arg2700Cys) c.8005C>T (p.Arg2669Cys) c.8149C>T (p.Arg2717Cys) | ClinVar dbSNP |
| 18 | g.10671730G>C | CA401912160 | PIEZO2 | c.*1497C>G (n.*1497C>G) n.3138C>G n.2293C>G c.1591C>G (n.1591C>G) c.8395C>G (p.Arg2799Gly) c.7867C>G (p.Arg2623Gly) c.7909C>G (p.Arg2637Gly) c.8056C>G (p.Arg2686Gly) c.1927C>G (p.Arg643Gly) c.8131C>G (p.Arg2711Gly) n.532C>G c.8262C>G (n.8262C>G) c.58+960C>G (n.58+960C>G) c.8188C>G (p.Arg2730Gly) c.8098C>G (p.Arg2700Gly) c.8005C>G (p.Arg2669Gly) c.8149C>G (p.Arg2717Gly) | ClinVar dbSNP |