Table 2. Chosen SIFT analysis results.
List of SNVs localized within five highest ranked genes based on prioritization analysis with ToppGene, which were predicted as probably or possibly damaging or deleterious during PolyPhen and SIFT analyzes.
| Chromosome name | Position on chromosome (bp) | Variation Name | Gene | Protein allele | PolyPhen prediction | SIFT prediction |
|---|---|---|---|---|---|---|
| 3 | 112 324 305 | rs114697626 | CCDC80 | Y/H | probably damaging | deleterious |
| 3 | 112 328 836 | rs56683778 | CCDC80 | A/V | probably damaging | deleterious |
| 5 | 82 786 006 | rs140063016 | VCAN | P/S | possibly damaging | deleterious |
| 5 | 82 789 493 | rs141008923 | VCAN | G/R | probably damaging | deleterious |
| 5 | 82 834 362 | rs201704138 | VCAN | T/N | possibly damaging | deleterious |
| 5 | 82 836 706 | rs201327923 | VCAN | N/K | possibly damaging | deleterious |
| 5 | 149 514 363 | rs2229560 | PDGFRB | I/T | possibly damaging | deleterious |
| 8 | 70 515 476 | rs118056333 | SULF1 | I/V | possibly damaging | deleterious |
| 8 | 70 550 806 | rs150467604 | SULF1 | T/M | probably damaging | deleterious |
| 13 | 99 083 321 | rs61730892 | FARP1 | H/Y | probably damaging | deleterious |
| 13 | 99 092 424 | rs200890628 | FARP1 | I/T | probably damaging | deleterious |
| 13 | 99 092 998 | rs61749894 | FARP1 | R/C | probably damaging | deleterious |
| 13 | 99 100 506 | rs143527821 | FARP1 | R/C | probably damaging | deleterious |