Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| COQ2 | ENSG00000173085 | ENST00000311469 | p.F383C | c.1148T>G | Missense_Mutation | - |
| KRT16 | ENSG00000186832 | ENST00000301653 | p.D163N | c.487G>A | Missense_Mutation | - |
| PIGU | ENSG00000101464 | ENST00000374820 | p.S224P | c.670T>C | Missense_Mutation | - |
| COG2 | ENSG00000135775 | ENST00000366669 | NA | NA | Splice_Site | - |
| -- | ENSG00000224457 | ENST00000453700 | p.P788S | c.2362C>T | Missense_Mutation | - |
| HRNR | ENSG00000197915 | ENST00000368801 | p.H774H | c.2322C>T | Silent | - |
| SCRIB | ENSG00000180900 | ENST00000320476 | p.V1367M | c.4099G>A | Missense_Mutation | - |
| NEB | ENSG00000183091 | ENST00000604864 | p.F3808S | c.11423T>C | Missense_Mutation | - |
| CPLANE1 | ENSG00000197603 | ENST00000508244 | p.P2932L | c.8795C>T | Splice_Site | - |
| STK11IP | ENSG00000144589 | ENST00000456909 | p.G27G | c.81C>T | Silent | - |