Pathogenicity of the variants identified in the patients determined by various prediction programs
| Subject | Variants | Role | CADD | PolyPhen2 | SIFT | PROVEAN | Mutation Taster | Panther |
|---|---|---|---|---|---|---|---|---|
| 1 | POLR3B c.[2818A>T] | Essential splice site | 20.2 | NA | NA | NA | Disease causing | NA |
| POLR3B c.[1244T>C] p.[Met415Thr] | Missense | 24.3 | Benign | Damaging | Deleterious | Disease causing | Not deleterious | |
| 2 | POLR3B c.[2633insT] p.[L880SfsX41] | Indel | NA | NA | NA | NA | Disease causing | NA |
| POLR3B c.[1244T>C] p.[Met415Thr] | Missense | 24.3 | Benign | Damaging | Deleterious | Disease causing | Not deleterious | |
| 3a and 3b | POLR3B c.[1568T>A] p.[(Val523Glu)] | Missense | 18.36 | Benign | Damaging | Deleterious | Disease causing | Does not align |
| POLR3B c.[1199T>C] p.[(Phe400Ser)] | Missense | 23.7 | Benign | Damaging | Deleterious | Disease causing | Does not align | |
| PROKR2 c.[151G>A] p.[A51T] | Missense | 22.9 | Benign | Tolerated | Neutral | Disease causing | NA |
NA, not available; CADD, Combined Annotation Dependent Depletion; PROVEAN, Provean Variation Effect Analyzer; SIFT, Sorting Intolerant From Tolerant.