| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10762977A>G | CA10581454 | PIEZO2 | c.3068T>C (p.Met1023Thr) n.3125T>C c.2993T>C (p.Met998Thr) c.2846T>C (p.Met949Thr) c.3035T>C (p.Met1012Thr) c.3125T>C (p.Met1042Thr) c.3086T>C (p.Met1029Thr) n.4122T>C | ClinVar dbSNP |
| 18 | g.10762977A>C | CA401924125 | PIEZO2 | c.3068T>G (p.Met1023Arg) n.3125T>G c.2993T>G (p.Met998Arg) c.2846T>G (p.Met949Arg) c.3035T>G (p.Met1012Arg) c.3125T>G (p.Met1042Arg) c.3086T>G (p.Met1029Arg) n.4122T>G | dbSNP gnomAD v4 |
| 18 | g.10762977A= | CA2284452621 | PIEZO2 | c.3068T= (p.Met1023=) n.3125T= c.2993T= (p.Met998=) c.2846T= (p.Met949=) c.3035T= (p.Met1012=) c.3125T= (p.Met1042=) c.3086T= (p.Met1029=) n.4122T= | dbSNP |