| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.44669391A>G | CA270118879 | PATL2 | c.953T>C (p.Ile318Thr) c.386T>C (p.Ile129Thr) c.944T>C (p.Ile315Thr) c.731T>C (p.Ile244Thr) c.701T>C (p.Ile234Thr) c.692T>C (p.Ile231Thr) c.518T>C (p.Ile173Thr) c.1067T>C (p.Ile356Thr) c.1058T>C (p.Ile353Thr) c.632T>C (p.Ile211Thr) c.860T>C (p.Ile287Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.44669391A= | CA2173726736 | PATL2 | c.953T= (p.Ile318=) c.386T= (p.Ile129=) c.944T= (p.Ile315=) c.731T= (p.Ile244=) c.701T= (p.Ile234=) c.692T= (p.Ile231=) c.518T= (p.Ile173=) c.1067T= (p.Ile356=) c.1058T= (p.Ile353=) c.632T= (p.Ile211=) c.860T= (p.Ile287=) | dbSNP |