| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.12652440del | CA16041947 | MAN2B1 | c.1851del (p.Pro618LeufsTer6) c.1848del (p.Pro617LeufsTer6) n.457del n.2441del c.444del n.448del c.195-11del c.1854del (p.Pro619LeufsTer6) c.750del (p.Pro251LeufsTer6) | ClinVar dbSNP |
| 19 | g.12652440A= | CA2323501230 | MAN2B1 | c.1851T= (p.Asp617=) c.1848T= (p.Asp616=) n.457T= n.2441T= c.444T= n.448T= c.195-11T= c.1854T= (p.Asp618=) c.750T= (p.Asp250=) | dbSNP dbSNP |