Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| -- | ENSG00000196826 | ENST00000339282 | p.T294I | c.881C>T | Missense_Mutation | - |
| MVD | ENSG00000167508 | ENST00000301012 | p.A387S | c.1159G>T | Missense_Mutation | - |
| OR5A1 | ENSG00000172320 | ENST00000302030 | p.L218H | c.653T>A | Missense_Mutation | - |
| -- | ENSG00000187919 | ENST00000334575 | p.L160L | c.480G>A | Silent | - |
| ABI2 | ENSG00000138443 | ENST00000422511 | p.S254G | c.760A>G | Missense_Mutation | - |
| MLXIP | ENSG00000175727 | ENST00000319080 | p.N748S | c.2243A>G | Missense_Mutation | - |
| TMEM169 | ENSG00000163449 | ENST00000295658 | NA | NA | De_novo_Start_OutOfFrame | - |
| HPD | ENSG00000158104 | ENST00000289004 | p.N259K | c.777C>A | Missense_Mutation | - |
| ELMO1 | ENSG00000155849 | ENST00000310758 | p.S95S | c.285G>C | Silent | - |
| RRP12 | ENSG00000052749 | ENST00000370992 | p.R1102L | c.3305G>T | Missense_Mutation | - |