| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101753525del | CA16609424 | GNPTAB | c.3449del (p.Leu1150ArgfsTer15) c.347del (n.347del) c.3368del (p.Leu1123ArgfsTer15) c.3233del (p.Leu1078ArgfsTer15) c.2222del (p.Leu741ArgfsTer15) | ClinVar dbSNP |
| 12 | g.101753525A= | CA3192155794 | GNPTAB | c.3449T= (p.Leu1150=) c.347T= (n.347T=) c.3368T= (p.Leu1123=) c.3233T= (p.Leu1078=) c.2222T= (p.Leu741=) | dbSNP |