Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| FBXW2 | ENSG00000119402 | ENST00000608872 | p.V340L | c.1018G>C | Missense_Mutation | - |
| FOCAD | ENSG00000188352 | ENST00000380249 | p.H722H | c.2166C>T | Silent | - |
| WNT2 | ENSG00000105989 | ENST00000265441 | p.C332C | c.996C>T | Silent | - |
| UBD | ENSG00000213886 | ENST00000377050 | p.Y27* | c.81T>A | Nonsense_Mutation | - |
| CACNA1B | ENSG00000148408 | ENST00000371372 | p.Q1337Q | c.4011G>A | Silent | - |
| CACNA1B | ENSG00000148408 | ENST00000371372 | p.I1394F | c.4180A>T | Missense_Mutation | - |
| SENP6 | ENSG00000112701 | ENST00000447266 | p.F1041fs | c.3120_3121insT | Frame_Shift_Ins | - |
| MAGEB6 | ENSG00000176746 | ENST00000379034 | p.P2T | c.4C>A | Missense_Mutation | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | NA | NA | Splice_Site | - |
| FAM72D | ENSG00000215784 | ENST00000400889 | p.S134G | c.400A>G | Missense_Mutation | - |