| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40074161dup | CA16040726 | PPT1 | c.818dup (p.Met273IlefsTer21) c.749dup (p.Met250IlefsTer21) c.512dup (p.Met171IlefsTer21) c.590dup (p.Met197IlefsTer?) c.164dup (p.Met55IlefsTer21) c.*444dup (n.*444dup) c.911dup n.1058dup c.*31dup (n.*31dup) c.243dup c.908dup (p.Met303IlefsTer21) c.*673dup (n.*673dup) c.*250dup (n.*250dup) c.821dup (p.Met274IlefsTer21) n.218dup c.434dup (p.Met145IlefsTer21) c.596dup (p.Met199IlefsTer?) | ClinVar dbSNP |
| 1 | g.40074161A= | CA3071928952 | PPT1 | c.818T= (p.Met273=) c.749T= (p.Met250=) c.512T= (p.Met171=) c.590T= (p.Met197=) c.164T= (p.Met55=) c.*444T= (n.*444T=) c.911T= n.1058T= c.*31T= (n.*31T=) c.243T= c.908T= (p.Met303=) c.*673T= (n.*673T=) c.*250T= (n.*250T=) c.821T= (p.Met274=) n.218T= c.434T= (p.Met145=) c.596T= (p.Met199=) | dbSNP |