Table 3 Non-pathogenic CTR9 variants identified in Wilms tumour cases and controls.
From: Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour
Variant | dbSNP | In-silico predictions | Consensus splice | Wilms tumour | Controls | |
|---|---|---|---|---|---|---|
| Â | Â | PolyPhen-2 | SIFT | Â | Â | Â |
c.75G>A(p.=) | rs138850547 | Â | Â | No effect | Â | 1 |
c.303G>C; p.Lys101Asn | Â | Possibly damaging | Tolerated | No effect | 1 | Â |
c.304A>G; p.Asn102Asp | Â | Benign | Tolerated | No effect | 1 | Â |
c.762T>C(p.=) | rs116362368 | Â | Â | No effect | 1 | Â |
c.921G>A(p.=) | rs368868162 | Â | Â | No effect | 1 | Â |
c.1233T>C(p.=) | rs143491141 | Â | Â | No effect | 1 | Â |
c.1329G>T; p.Glu443Asp | Â | Benign | Tolerated | No effect | 2 | Â |
c.1461C>T(p.=) | Â | Â | Â | No effect | Common | Common |
c.1494C>T(p.=) | rs7118399 | Â | Â | No effect | Common | Common |
c.1687-3C>T | rs76650154 | Â | Â | No effect | 5 | Â |
c.1800T>C(p.=) | rs199500868 | Â | Â | No effect | 1 | Â |
c.1873-4A>G | Â | Â | Â | No effect | Â | 3 |
c.2097C>T(p.=) | rs140813178 | Â | Â | No effect | 1 | 8 |
c.2372+4A>C | rs199735513 | Â | Â | No effect | 1 | Â |
c.2445-8T>C | Â | Â | Â | No effect | Â | 1 |
c.2487C>T(p.=) | Â | Â | Â | No effect | Â | 1 |
c.2516G>A; p.Arg839Gln | Â | Benign | Tolerated | No effect | Â | 1 |
c.2610G>A(p.=) | Â | Â | Â | No effect | Â | 1 |
c.2745A>G(p.=) | Â | Â | Â | No effect | 1 | Â |
c.2897G>C; p.Gly966Ala | rs192522878 | Benign | Tolerated | No effect | 1 | Â |
c.2953C>T; p.Arg985Cys | Â | Possibly damaging | Affect protein function | No effect | Â | 1 |
c.3095+8_3095+9dupAT | Â | Â | Â | No effect | Â | 1 |
c.3149A>G; p.Lys1050Arg | rs141131642 | Benign | Tolerated | No effect | 3 | Â |
c.3154T>C; p.Cys1052Arg | rs35696189 | Benign | Tolerated | No effect | 3 | Â |
c.3195G>A(p.=) | rs34200650 | Â | Â | No effect | 1 | Â |
c.3211G>A; p.Gly1071Ser | rs35766432 | Benign | Tolerated | No effect | 2 | 2 |
c.3244G>A; p.Asp1082Asn | rs138871050 | Benign | Tolerated | No effect | 1 | Â |
c.3284G>A; p.Arg1095Lys | rs141434094 | Possibly damaging | Tolerated | No effect | Â | 1 |
c.3292G>A; p.Gly1098Ser | rs376210239 | Benign | Tolerated | No effect | Â | 1 |
c.3402G>A(p.=) | rs147016884 | Â | Â | No effect | 1 | 1 |
c.3449A>G; p.Glu1150Gly | rs35023148 | Benign | Tolerated | No effect | Â | 2 |
c.3512A>G; p.Asp1171Gly | Â | Benign | Deleterious | No effect | 1 | Â |
