Table 4.
RNF213 Deleterious Variants Found Exclusively in Affected or Control Individuals
| Position | Variant | Affected Individuals (n = 233) | Control Individuals (n = 277) | PolyPhen-2 Score | GERP++ Score | Frequency in EVS |
|---|---|---|---|---|---|---|
| 78,264,463 | c.1208_1210del (p.403_404del) | 1 | 0 | 1 | 0 | 0.001917 |
| 78,268,746 | c.1699A>G (p.Met567Val) | 1 | 0 | 0.999 | 2.72 | 0 |
| 78,272,125 | c.2017C>T (p.Arg673Trp) | 3 | 0 | 0.997 | 0.06 | 0 |
| 78,305,962 | c.3674A>G (p.Asp1225Gly) | 1 | 0 | 0.919 | 0 | 0 |
| 78,319,447 | c.7312C>T (p.Arg2438Cys) | 1 | 0 | 0.655 | 2.35 | 0.000077 |
| 78,320,611 | c.8476G>A (p.Ala2826Thr) | 1 | 0 | 1 | 5.59 | 0 |
| 78,321,697 | c.9562G>A (p.Val3188Met) | 1 | 0 | 0.96 | 5.36 | 0 |
| 78,321,844 | c.9709C>A (p.Gln3237Lys) | 3 | 0 | 0.264 | 2.61 | 0 |
| 78,345,744 | c.12496G>A (p.Asp4166Asn) | 1 | 0 | 1 | 5.02 | 0.000923 |
| 78,346,877 | c.12854G>A (p.Ser4285Asn) | 1 | 0 | 0.024 | 2.7 | 0.000077 |
| 78,348,389 | c.13074G>A (p.Lys4358Lys) | 1 | 0 | 1 | 0 | 0 |
| 78,353,451 | c.13577T>C (p.Ile4526Thr) | 3 | 0 | 0.290848 | 2.81 | 0 |
| 78,363,707 | c.15275G>A (p.Arg5092Gln) | 1 | 0 | 0.998 | 3.14 | 0.000077 |
| 78,321,941 | c.9806G>A (p.Arg3269Gln) | 0 | 2 | 1 | 3.02 | 0.000077 |
| 78,328,364 | c.10850C>T (p.Ala3617Val) | 0 | 1 | 0.555 | 4.79 | 0 |
| 78,291,060 | c.2884G>A (p.Glu962Lys) | 0 | 1 | 0.068 | 3.66 | 0 |
| 78,321,560 | c.9425T>C (p.Val3142Ala) | 0 | 1 | 0.998 | 5.09 | 0 |