| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10773414G>C | CA10588853 | PIEZO2 | c.2783C>G (p.Ser928Ter) n.2840C>G c.2708C>G (p.Ser903Ter) c.2555C>G (p.Ser852Ter) n.151C>G c.2750C>G (p.Ser917Ter) c.2840C>G (p.Ser947Ter) c.2801C>G (p.Ser934Ter) n.3837C>G | ClinVar dbSNP |
| 18 | g.10773414G= | CA2284457525 | PIEZO2 | c.2783C= (p.Ser928=) n.2840C= c.2708C= (p.Ser903=) c.2555C= (p.Ser852=) n.151C= c.2750C= (p.Ser917=) c.2840C= (p.Ser947=) c.2801C= (p.Ser934=) n.3837C= | dbSNP |