Table 3.
Somatic EIF1AX Mutations Previously Unreported in Primary Uveal Melanoma
| Tumor ID | GEP Class | Metastasis | Mutation Position | Mutation Nucleotide Change | Predicted Functional Change | Mutation Type | Exon Involved | Cosmic ID |
|---|---|---|---|---|---|---|---|---|
| MM041 | 1 | No | X:20156731 | C→A | p.G9V | Missense | 2 | NA |
| MM068 | 1 | No | X:20156732 | C→G | p.G9R | Missense | 2 | COSM3372214 |
| MM074 | 1 | No | X:20156732 | C→G | p.G9R | Missense | 2 | COSM3372214 |
| MM078 | 2 | No | X:20156731 | C→A | p.G9V | Missense | 2 | NA |
| MM082 | 1 | No | X:20156731 | C→T | p.G9D | Missense | 2 | COSM3372213 |
| MM094 | 1 | No | X:20156737 | T→C | p.K7R | Missense | 2 | COSM3560352 |
| MM105 | 1 | No | X:20156742 | T→C | Splice acceptor | Splice site | Intron 1 | NA |
| MM131 | 1 | No | X:20156731 | C→T | p.G9D | Missense | 2 | COSM3372213 |
| UMM003 | 1 | No | X:20156734 | C→T | p.G8E | Missense | 2 | COSM4829462 |
| UMM009 | 2 | No | X:20156732 | C→G | p.G9R | Missense | 2 | COSM3372214 |
Abbreviations: GEP, gene expression profile; ID, identification; NA, not available.