| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8811701dup | CA16041799 | PMM2 | n.3679dup c.511dup (p.Thr171AsnfsTer11) c.*129dup (n.*129dup) c.*133dup (n.*133dup) c.*51dup (n.*51dup) c.*407dup (n.*407dup) c.*233dup (n.*233dup) c.478dup c.430dup (p.Thr144AsnfsTer11) c.238dup (p.Thr80AsnfsTer11) c.242dup (p.His81GlnfsTer5) c.262dup (p.Thr88AsnfsTer11) c.136dup (p.Thr46AsnfsTer11) | ClinVar dbSNP gnomAD v4 |
| 16 | g.8811701A= | CA3217832054 | PMM2 | n.3679A= c.511A= (p.Thr171=) c.*129A= (n.*129A=) c.*133A= (n.*133A=) c.*51A= (n.*51A=) c.*407A= (n.*407A=) c.*233A= (n.*233A=) c.478A= c.430A= (p.Thr144=) c.238A= (p.Thr80=) c.242A= (p.His81=) c.262A= (p.Thr88=) c.136A= (p.Thr46=) | dbSNP |