| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101764303del | CA16609429 | GNPTAB | c.2614del (p.Val872LeufsTer?) c.2533del (p.Val845LeufsTer?) c.2398del (p.Val800LeufsTer?) c.1387del (p.Val463LeufsTer?) | ClinVar dbSNP |
| 12 | g.101764303C= | CA2058955348 | GNPTAB | c.2614G= (p.Val872=) c.2533G= (p.Val845=) c.2398G= (p.Val800=) c.1387G= (p.Val463=) | dbSNP dbSNP |